Abdominal-B
Coloration (abdomen; male)
Cis-regulatory,
Unknown
Drosophila santomea
(species) D
Interspecific
Linkage Mapping
Liu Y; Ramos-Womack M; Han C ; et al. (2019)
Changes throughout a Genetic Network Mask the Contribution of Hox Gene Evolution.
GP00002021
Abd-B
P09087
Morphology
change in the iab5 cis-regulatory element (15kb long)- exact causing mutation(s) unknown - decreased AbdB abdominal expression
Drosophila yakuba
(species)
Drosophila santomea
(species) D
Abdominal-B
Drosophila santomea
(species)
Published - Accepted by Curator
Abdominal-B
Coloration (abdomen; setae)
Cis-regulatory,
Unknown
Bombus melanopygus
(species)
Intraspecific
Association Mapping
Tian L; Rahman SR; Ezray BD ; et al. (2019)
A homeotic shift late in development drives mimetic color variation in a bumble bee.
GP00002048
Abd-B
P09087
Morphology
4kb region - probably several mutations according to recombinants with intermediate phenotypes
Bombus melanopygus
(species)
Bombus melanopygus
(species)
Abdominal-B
Bombus melanopygus
(species)
Published - Accepted by Curator
achaete-scute complex
Bristle number (abdomen; female-limited)
Cis-regulatory,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Long AD; Lyman RF; Morgan AH ; et al. (2000)
Both naturally occurring insertions of transposable elements and intermediate frequency polymorphism[...]
GP00000046
sc
P10084
Morphology
transposon insertion in non-coding region
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
achaete-scute complex
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
achaete-scute complex
Bristle number (abdomen)
Cis-regulatory,
Indel
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Long AD; Lyman RF; Morgan AH ; et al. (2000)
Both naturally occurring insertions of transposable elements and intermediate frequency polymorphism[...]
GP00000047
sc
P10084
Morphology
indel MC21 in promoter region of scute
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
achaete-scute complex
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
achaete-scute complex
Bristle number (thorax)
Cis-regulatory,
Indel
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Gruber JD; Genissel A; Macdonald SJ ; et al. (2007)
How repeatable are associations between polymorphisms in achaete-scute and bristle number variation [...]
GP00000048
sc
P10084
Morphology
indel MC22 in promoter region of scute
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
achaete-scute complex
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
achaete-scute complex
Bristle number (thorax)
Cis-regulatory,
Unknown
Drosophila quadrilineata
(species)
Interspecific
Candidate Gene
Marcellini S; Simpson P (2006)
Two or four bristles: functional evolution of an enhancer of scute in Drosophilidae.
GP00000049
sc
P10084
Morphology
Not identified
Drosophila melanogaster
fruit fly - (species)
Drosophila quadrilineata
(species)
achaete-scute complex
Drosophila quadrilineata
(species)
Published - Accepted by Curator
achaete-scute complex
Bristle number (genitalia; leg sex comb)
3 Mutations:
Cis-regulatory
SNP
Drosophila santomea
(species) D
Interspecific
Linkage Mapping
Nagy O; Nuez I; Savisaar R ; et al. (2018)
Correlated Evolution of Two Copulatory Organs via a Single cis-Regulatory Nucleotide Change.
GP00001680
sc
P10084
Morphology
3 mutations
Drosophila yakuba
(species)
Drosophila santomea
(species) D
achaete-scute complex
Drosophila santomea
(species)
Published - Accepted by Curator
aggrecan
Body size (dwarfism)
Cis-regulatory,
SNP
N
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Cavanagh JA; Tammen I; Windsor PA ; et al. (2007)
Bulldog dwarfism in Dexter cattle is caused by mutations in ACAN.
GP00002141
ACAN
P16112
Morphology
−198C>T transition predicted to introduce a new ATG start codon 199 bp upstream of the normal start codon N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
aggrecan
Bos taurus
cattle - (species)
Published - Accepted by Curator
Agouti
Coloration (coat; dorso-ventral)
Cis-regulatory,
Unknown
Peromyscus polionotus leucocephalus
(subspecies) D
Peromyscus polionotus niveiventris
(subspecies) D
Peromyscus polionotus peninsularis
(subspecies) D
Peromyscus polionotus allophrys
(subspecies) D
Peromyscus polionotus trissyllepsis
(subspecies) D
Peromyscus polionotus ammobates
(subspecies) D
Peromyscus polionotus albifrons
(subspecies) D
Peromyscus polionotus subgriseus
(subspecies) D
Intraspecific
Linkage Mapping
Manceau M; Domingues VS; Mallarino R ; et al. (2011)
The developmental role of Agouti in color pattern evolution.
1 Additional References
GP00000057
Asip
Q03288
Morphology
"A closer investigation of this region revealed three SNPs significantly associated with pigment variation, spanning 1,756 bp, in strong linkage disequilibrium (mean r2 = 0.85). A single SNP on chromosome 4 (chr4) at position chr4: 9,845,301 showed a markedly stronger association with pPC1 than the other two (Fig. 3B). This SNP is located between two untranslated exons (exons 1D and 1E), is 120 bp upstream of a cluster of Short Interspersed Nuclear Elements (SINE) in reverse orientation relative to the transcription of Agouti, and is 5,641 bp upstream of the first coding exon (exon 2). "
"Next, we employ an association-mapping approach to identify an ∼2-kb previously uncharacterized noncoding region of Agouti associated with color variation. We then show that this 2-kb region can drive dermal expression in Mus embryos, demonstrating its regulatory activity in the skin during the establishment of pigmentation."
Peromyscus polionotus subgriseus
(subspecies)
Peromyscus polionotus polionotus
(subspecies)
Peromyscus polionotus albifrons
(subspecies)
Peromyscus polionotus leucocephalus
(subspecies) D
Peromyscus polionotus niveiventris
(subspecies) D
Peromyscus polionotus peninsularis
(subspecies) D
Peromyscus polionotus allophrys
(subspecies) D
Peromyscus polionotus trissyllepsis
(subspecies) D
Peromyscus polionotus ammobates
(subspecies) D
Peromyscus polionotus albifrons
(subspecies) D
Peromyscus polionotus subgriseus
(subspecies) D
Agouti
Peromyscus polionotus leucocephalus
(subspecies)
Peromyscus polionotus niveiventris
(subspecies)
Peromyscus polionotus peninsularis
(subspecies)
Peromyscus polionotus allophrys
(subspecies)
Peromyscus polionotus trissyllepsis
(subspecies)
Peromyscus polionotus ammobates
(subspecies)
Peromyscus polionotus albifrons
(subspecies)
Peromyscus polionotus subgriseus
(subspecies)
Published - Accepted by Curator
Agouti
Coloration (coat; dorso-ventral)
Cis-regulatory,
Unknown
Sus scrofa domesticus
domestic pig - (subspecies)
Domesticated
Linkage Mapping
Drögemüller C; Giese A; Martins-Wess F ; et al. (2006)
The mutation causing the black-and-tan pigmentation phenotype of Mangalitza pigs maps to the porcine[...]
GP00000058
Asip
Q03288
Morphology
unknown
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies)
Agouti
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
Agouti
Coloration (coat)
Cis-regulatory,
Insertion
Bos taurus
cattle - (species) D
Domesticated
Candidate Gene
Girardot M; Guibert S; Laforet MP ; et al. (2006)
The insertion of a full-length Bos taurus LINE element is responsible for a transcriptional deregula[...]
GP00000059
Asip
Q03288
Morphology
LINE element insertion in 5' region of gene; over expression of alternative splice forms
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Agouti
Bos taurus
cattle - (species)
Published - Accepted by Curator
Agouti
Coloration (feathers)
Cis-regulatory,
Deletion
Coturnix japonica
Japanese quail - (species) D
Domesticated
Linkage Mapping
Nadeau NJ; Minvielle F; Ito S ; et al. (2008)
Characterization of Japanese quail yellow as a genomic deletion upstream of the avian homolog of the[...]
1 Additional References
GP00000069
Asip
Q03288
Morphology
141162-bp deletion resulting in novel promoter sharing and expression of a RALY-ASIP fusion transcript
Coturnix japonica
Japanese quail - (species)
Coturnix japonica
Japanese quail - (species) D
Agouti
Coturnix japonica
Japanese quail - (species)
Published - Accepted by Curator
Agouti
Coloration (coat)
5 Mutations:
Peromyscus maniculatus
North American deer mouse - (species)
Intraspecific
Association Mapping
Linnen CR; Poh YP; Peterson BK ; et al. (2013)
Adaptive evolution of multiple traits through multiple mutations at a single gene.
1 Additional References
GP00001974
Asip
Q03288
Morphology
5 mutations
Peromyscus maniculatus
North American deer mouse - (species)
Peromyscus maniculatus
North American deer mouse - (species)
Agouti
Peromyscus maniculatus
North American deer mouse - (species)
Published - Accepted by Curator
Agouti
Coloration (coat)
Cis-regulatory,
Insertion
Mus musculus molossinus
Japanese wild mouse - (subspecies) D
Intraspecific
Candidate Gene
Tanave A; Imai Y; Koide T (2019)
Nested retrotransposition in the East Asian mouse genome causes the classical nonagouti mutation.
GP00002386
Asip
Q03288
Morphology
Mus musculus molossinus
Japanese wild mouse - (subspecies)
Mus musculus molossinus
Japanese wild mouse - (subspecies) D
Agouti
Mus musculus molossinus
Japanese wild mouse - (subspecies)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (skin; hair)
Cis-regulatory,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Bonilla C; Boxill LA; Donald SA ; et al. (2005)
The 8818G allele of the agouti signaling protein (ASIP) gene is ancestral and is associated with dar[...]
2 Additional References
GP00000070
Asip
Q03288
Morphology
unknown
Homo sapiens
human - (species)
Homo sapiens
human - (species)
Agouti (ASIP)
Homo sapiens
human - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Cis-regulatory,
SNP
Ovis aries
sheep - (species) D
Domesticated
Candidate Gene
Norris BJ; Whan VA (2008)
A gene duplication affecting expression of the ovine ASIP gene is responsible for white and black sh[...]
GP00001325
Asip
Q03288
Morphology
unidentified promoter silencing
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
Agouti (ASIP)
Ovis aries
sheep - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Cis-regulatory,
Unknown
Vermivora cyanoptera
blue-winged warbler - (species)
Interspecific
Association Mapping
Toews DP; Taylor SA; Vallender R ; et al. (2016)
Plumage Genes and Little Else Distinguish the Genomes of Hybridizing Warblers.
GP00001331
Asip
Q03288
Morphology
unknown - the divergent region falls in the 5prime region that is directly upstream of the associated coding region
Vermivora chrysoptera
Golden-winged warbler - (species)
Vermivora cyanoptera
blue-winged warbler - (species)
Agouti (ASIP)
Vermivora cyanoptera
blue-winged warbler - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Cis-regulatory,
Insertion
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Dreger DL; Schmutz SM (2011 Sep-Oct)
A SINE insertion causes the black-and-tan and saddle tan phenotypes in domestic dogs.
GP00001336
Asip
Q03288
Morphology
A 239bp SINE insertion in reverse orientation in intron 1
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
Agouti (ASIP)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Cis-regulatory,
Unknown
Lepus americanus
snowshoe hare - (species) D
Intraspecific
Association Mapping
Jones MR; Mills LS; Alves PC ; et al. (2018)
Adaptive introgression underlies polymorphic seasonal camouflage in snowshoe hares.
GP00002060
Asip
Q03288
Morphology
exact mutation(s) unknown
Lepus americanus
snowshoe hare - (species)
Lepus americanus
snowshoe hare - (species) D
Agouti (ASIP)
Lepus americanus
snowshoe hare - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Cis-regulatory,
Unknown
Lepus timidus
Mountain hare - (species) D
Intraspecific
Association Mapping
Giska I; Farelo L; Pimenta J ; et al. (2019)
Introgression drives repeated evolution of winter coat color polymorphism in hares.
GP00002061
Asip
Q03288
Morphology
exact mutation(s) unknown
Lepus timidus
Mountain hare - (species)
Lepus timidus
Mountain hare - (species) D
Agouti (ASIP)
Lepus timidus
Mountain hare - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Cis-regulatory,
Insertion
Mus musculus
house mouse - (species) D
Domesticated
Candidate Gene
Morgan HD; Sutherland HG; Martin DI ; et al. (1999)
Epigenetic inheritance at the agouti locus in the mouse.
GP00002107
Asip
Q03288
Morphology
insertion of an intra-cisternal A particle (IAP) retrotransposon upstream of the agouti gene (A). This activates transcription and causes ectopic expression of agouti protein; resulting in yellow fur; obesity; diabetes and increased susceptibility to tumours. The pleiotropic effects of ectopic agouti expression are presumably due to effects of the paracrine signal on other tissues.
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species) D
Agouti (ASIP)
Mus musculus
house mouse - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (skin)
Cis-regulatory,
Unknown
Gallus gallus
chicken - (species)
Domesticated
Candidate Gene
Yu S; Wang G; Liao J (2019)
Association of a novel SNP in the ASIP gene with skin color in black-bone chicken.
GP00002130
Asip
Q03288
Morphology
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
Agouti (ASIP)
Gallus gallus
chicken - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Cis-regulatory,
Insertion
Bubalus bubalis
water buffalo - (species) D
Domesticated
Association Mapping
Liang D; Zhao P; Si J ; et al. (2021)
Genomic Analysis Revealed a Convergent Evolution of LINE-1 in Coat Color: A Case Study in Water Buff[...]
GP00002370
Asip
Q03288
Morphology
"2,809-bp-long LINE-1 insertion in the ASIP (agouti signaling protein) gene is the causative mutation for the white coat phenotype in swamp buffalo (Bubalus bubalis). This LINE-1 insertion (3′ truncated and containing only 5′ UTR) functions as a strong proximal promoter that leads to a 10-fold increase in the transcription of ASIP in white buffalo skin. The 165 bp of 5′ UTR transcribed from the LINE-1 is spliced into the first coding exon of ASIP, resulting in a chimeric transcript. The increased expression of ASIP prevents melanocyte maturation, leading to the absence of pigment in white buffalo skin and hairs. Phylogenetic analyses indicate that the white buffalo-specific ASIP allele originated from a recent genetic transposition event in swamp buffalo. Interestingly, as a similar LINE-1 insertion has been identified in the cattle ASIP gene, we discuss the convergent mechanism of coat color evolution in the Bovini tribe."
Bubalus bubalis
water buffalo - (species)
Bubalus bubalis
water buffalo - (species) D
Agouti (ASIP)
Bubalus bubalis
water buffalo - (species)
Published - Accepted by Curator
Agouti-related peptide 2 (agrp2)
Coloration (stripes)
Cis-regulatory,
Unknown
Haplochromis sauvagei
(species)
Haplochromis chilotes
(species)
Interspecific
Linkage Mapping
Kratochwil CF; Liang Y; Gerwin J ; et al. (2018)
Agouti-related peptide 2 facilitates convergent evolution of stripe patterns across cichlid fish rad[...]
1 Additional References
GP00001764
asip2b
J3JQX9
Morphology
Causal mutation(s) are in a 1.1-kb interval within the first agrp2 intron
Pundamilia nyererei
(species)
Haplochromis sauvagei
(species)
Haplochromis chilotes
(species)
Agouti-related peptide 2 (agrp2)
Haplochromis sauvagei
(species)
Haplochromis chilotes
(species)
Published - Accepted by Curator
Agouti-related peptide 2 (agrp2)
Coloration (stripes)
Cis-regulatory,
Unknown
Haplochromis sauvagei
(species)
Haplochromis chilotes
(species)
Interspecific
Linkage Mapping
Kratochwil CF; Liang Y; Gerwin J ; et al. (2018)
Agouti-related peptide 2 facilitates convergent evolution of stripe patterns across cichlid fish rad[...]
1 Additional References
GP00001960
asip2b
J3JQX9
Morphology
Causal mutation(s) are in a 1.1-kb interval within the first agrp2 intron
Pundamilia nyererei
(species)
Haplochromis sauvagei
(species)
Haplochromis chilotes
(species)
Agouti-related peptide 2 (agrp2)
Haplochromis sauvagei
(species)
Haplochromis chilotes
(species)
Published - Accepted by Curator
alcohol dehydrogenase (Adh)
Xenobiotic resistance (alcohol)
6 Mutations:
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Choudhary M; Laurie CC (1991)
Use of in vitro mutagenesis to analyze the molecular basis of the difference in Adh expression assoc[...]
4 Additional References
GP00001962
Adh
P00334
Physiology
6 mutations
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
alcohol dehydrogenase (Adh)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
alcohol dehydrogenase (Adh)
Xenobiotic resistance (alcohol)
4 Mutations:
Drosophila yakuba
(species)
Interspecific
Candidate Gene
Loehlin DW; Ames JR; Vaccaro K ; et al. (2019)
A major role for noncoding regulatory mutations in the evolution of enzyme activity.
GP00001963
Adh
P00334
Physiology
4 mutations
Drosophila santomea
(species)
Drosophila yakuba
(species)
alcohol dehydrogenase (Adh)
Drosophila yakuba
(species)
Published - Accepted by Curator
alcohol dehydrogenase (Adh)
Xenobiotic resistance (alcohol)
4 Mutations:
Drosophila erecta
(species)
Interspecific
Candidate Gene
Loehlin DW; Ames JR; Vaccaro K ; et al. (2019)
A major role for noncoding regulatory mutations in the evolution of enzyme activity.
GP00001964
Adh
P00334
Physiology
4 mutations
Drosophila orena
(species)
Drosophila erecta
(species)
alcohol dehydrogenase (Adh)
Drosophila erecta
(species)
Published - Accepted by Curator
alcohol dehydrogenase (Adh)
Xenobiotic resistance (alcohol)
5 Mutations:
Drosophila virilis
(species) D
Interspecific
Candidate Gene
Loehlin DW; Ames JR; Vaccaro K ; et al. (2019)
A major role for noncoding regulatory mutations in the evolution of enzyme activity.
GP00001965
Adh
P00334
Physiology
5 mutations
Drosophila americana
(species)
Drosophila virilis
(species) D
alcohol dehydrogenase (Adh)
Drosophila virilis
(species)
Published - Accepted by Curator
alcohol dehydrogenase (Adh)
Xenobiotic resistance (alcohol)
Cis-regulatory,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Strand DJ; McDonald JF (1989)
Insertion of a copia element 5' to the Drosophila melanogaster alcohol dehydrogenase gene (adh) is a[...]
GP00001989
Adh
P00334
Physiology
insertion of a complete 5.2kb copia retroviral-like transposable element 240 bp upstream from the distal (adult) adh transcriptional start site
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
alcohol dehydrogenase (Adh)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
ALMT1
Metal tolerance
Cis-regulatory,
Unknown
Triticum aestivum
bread wheat - (species)
Domesticated
Linkage Mapping
Raman H; Zhang K; Cakir M ; et al. (2005)
Molecular characterization and mapping of ALMT1, the aluminium-tolerance gene of bread wheat (Tritic[...]
2 Additional References
GP00000080
ALMT1
Q76LB1
Physiology
multiple regulatory changes
Triticum aestivum
bread wheat - (species)
Triticum aestivum
bread wheat - (species)
ALMT1
Triticum aestivum
bread wheat - (species)
Published - Accepted by Curator
an2-like (Stan2)
Coloration (tuber skin)
Cis-regulatory,
Unknown
Solanum tuberosum
potato - (species)
Domesticated
Linkage Mapping
Jung CS; Griffiths HM; De Jong DM ; et al. (2009)
The potato developer (D) locus encodes an R2R3 MYB transcription factor that regulates expression of[...]
GP00000088
AN2
A4GRU8
Morphology
unknown
Solanum tuberosum
potato - (species)
Solanum tuberosum
potato - (species)
an2-like (Stan2)
Solanum tuberosum
potato - (species)
Published - Accepted by Curator
anthocyanin2 (an2)
Coloration (fruit)
Cis-regulatory,
Unknown
Capsicum chinense
(species)
Domesticated
Linkage Mapping
Borovsky Y; Oren-Shamir M; Ovadia R ; et al. (2004)
The A locus that controls anthocyanin accumulation in pepper encodes a MYB transcription factor homo[...]
GP00000087
AN2
A4GRU8
Morphology
unknown
Capsicum annuum
(species)
Capsicum chinense
(species)
anthocyanin2 (an2)
Capsicum chinense
(species)
Published - Accepted by Curator
anthocyanin2 (an2)
Coloration (anthocyanin accumulation in entire plant)
Cis-regulatory,
Insertion
Capsicum annuum
(species) D
Domesticated
Candidate Gene
Jung S; Venkatesh J; Kang MY ; et al. (2019)
A non-LTR retrotransposon activates anthocyanin biosynthesis by regulating a MYB transcription facto[...]
GP00002051
AN2
A4GRU8
Morphology; Physiology
insertion of a 4.2 kb non-LTR retrotransposon in the promoter (672 bp upstream of the start codon of CaAn2) which may activate expression of CaAn2 by recruiting transcription factors at the 3' UTR
Capsicum annuum
(species)
Capsicum annuum
(species) D
anthocyanin2 (an2)
Capsicum annuum
(species)
Published - Accepted by Curator
APJ1
Xenobiotic resistance (alcohol, ethanol)
Cis-regulatory,
Unknown
Saccharomyces cerevisiae
baker's yeast - (species)
Domesticated
Linkage Mapping
Swinnen S; Schaerlaekens K; Pais T ; et al. (2012)
Identification of novel causative genes determining the complex trait of high ethanol tolerance in y[...]
GP00000097
APJ1
P53940
Physiology
unknown
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
APJ1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
apontic-like
Coloration (larval color pattern)
Cis-regulatory,
Unknown
Bombyx mori
domestic silkworm - (species) D
Domesticated
Linkage Mapping
Yoda S; Yamaguchi J; Mita K ; et al. (2014)
The transcription factor Apontic-like controls diverse colouration pattern in caterpillars.
2 Additional References
GP00001386
apt
O61602
Morphology
233-kb region around apt-like (pS) refined as 33kb interval in apt-like Intron 1 (+p) with uncharacterized haplotype driving apt-like upregulation in derived phenotypes
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
apontic-like
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
AR
Sensory vibrissae (loss)
Penile spine (loss)
Cis-regulatory,
Deletion
Homo sapiens
human - (species) D
Interspecific
Candidate Gene
McLean CY; Reno PL; Pollen AA ; et al. (2011)
Human-specific loss of regulatory DNA and the evolution of human-specific traits.
GP00000102
AR
P10275
Morphology
Morphology
Enhancer loss
Pan troglodytes
chimpanzee - (species)
Homo sapiens
human - (species) D
AR
Homo sapiens
human - (species)
Published - Accepted by Curator
ARHGEF3
Hematopoiesis (mean blood platelet volume & blood platelet count)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017)
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]
GP00001605
ARHGEF3
Q9NR81
Physiology
T>C at the associated SNP that disrupts a conserved GATA motif. This variant overlaps with a common-myeloid progenitor (CMP-) and megakaryocyte-erythroid progenitor (MEP-) specific regulatory element that affects the transcription of ARHGEF3
Homo sapiens
human - (species)
Homo sapiens
human - (species)
ARHGEF3
Homo sapiens
human - (species)
Published - Accepted by Curator
aristaless
Coloration (wing, Mullerian mimicry)
Cis-regulatory,
Unknown
Heliconius cydno
(species) D
Intraspecific
Linkage Mapping
Westerman EL; VanKuren NW; Massardo D ; et al. (2018)
Aristaless Controls Butterfly Wing Color Variation Used in Mimicry and Mate Choice.
GP00002059
al
Q06453
Morphology
gain of expression - exact mutation unknown
Heliconius cydno
(species)
Heliconius cydno
(species) D
aristaless
Heliconius cydno
(species)
Published - Accepted by Curator
arrow
Coloration (wing)
Cis-regulatory,
Unknown
Danaus chrysippus
African queen - (species)
Intraspecific
Association Mapping
Martin SH; Singh KS; Gordon IJ ; et al. (2020)
Whole-chromosome hitchhiking driven by a male-killing endosymbiont.
GP00002431
cnn
P54623
Morphology
The strongest associations with forewing tip (C locus) occur at the gene arrow and a phylogenetic network for a 100-kb region around this gene similarly clusters individuals by phenotype. In Drosophila Arrow is essential for Wnt signalling in wing development
Danaus chrysippus
African queen - (species)
Danaus chrysippus
African queen - (species)
arrow
Danaus chrysippus
African queen - (species)
Published - Accepted by Curator
AtHKT1
Salt tolerance
Cis-regulatory,
Deletion
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Rus A; Baxter I; Muthukumar B ; et al. (2006)
Natural variants of AtHKT1 enhance Na+ accumulation in two wild populations of Arabidopsis.
1 Additional References
GP00000124
HKT1
Q84TI7
Physiology
725bp deletion of part of upstream repeat region
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AtHKT1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtHKT1
Salt tolerance
Cis-regulatory,
Deletion
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Rus A; Baxter I; Muthukumar B ; et al. (2006)
Natural variants of AtHKT1 enhance Na+ accumulation in two wild populations of Arabidopsis.
1 Additional References
GP00000125
HKT1
Q84TI7
Physiology
687bp deletion of part of upstream repeat region
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AtHKT1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
avpr1a
Male sexual fidelity (monogamous regime)
Cis-regulatory,
Unknown
Microtus ochrogaster
prairie vole - (species)
Intraspecific
Candidate Gene
Okhovat M; Berrio A; Wallace G ; et al. (2015)
Sexual fidelity trade-offs promote regulatory variation in the prairie vole brain.
1 Additional References
GP00000129
Avpr1a
Q62463
Behavior
unknown
Microtus ochrogaster
prairie vole - (species)
Microtus ochrogaster
prairie vole - (species)
avpr1a
Microtus ochrogaster
prairie vole - (species)
Published - Accepted by Curator
AZI1
Root growth (root growth responses to low zinc conditions)
Cis-regulatory,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Association Mapping
Bouain N; Satbhai SB; Korte A ; et al. (2018)
Natural allelic variation of the AZI1 gene controls root growth under zinc-limiting condition.
GP00001769
AZI1
Q9SU35
Physiology
exact causing mutation(s) unknown
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
AZI1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
B2
Coloration (bulb)
Cis-regulatory,
Insertion
N
Allium cepa
onion - (species) D
Domesticated
Linkage Mapping
Jo C; Kim S (2019)
Transposition of a non-autonomous DNA transposon in the gene coding for a bHLH transcription factor [...]
GP00002058
Morphology
577-bp insertion of a transposable element named AcWHITE in the 5′ upstream region of the white allele of B2. A 8-bp target site duplication (GTTATA AC) and a 7-bp terminal inverted repeat (CAAGGTT) were identified at both ends of this insertion - no SNP detected in the coding region N
Allium cepa
onion - (species)
Allium cepa
onion - (species) D
B2
Allium cepa
onion - (species)
Published - Accepted by Curator
B4GALNT2
Fertility (increased ovulation rate)
Cis-regulatory,
Unknown
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Drouilhet L; Mansanet C; Sarry J ; et al. (2013)
The highly prolific phenotype of Lacaune sheep is associated with an ectopic expression of the B4GAL[...]
GP00001979
B4galnt2
Q09199
Physiology
candidate region to 197kb ; putative mutation (g.36938224T>A) in intron 7or (g.37034573A>G) 96 kb away in an intergenic region
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
B4GALNT2
Ovis aries
sheep - (species)
Published - Accepted by Curator
bab
Coloration (abdomen; female)
Cis-regulatory,
Unknown
Drosophila yakuba
(species)
Interspecific
Candidate Gene
Rogers WA; Salomone JR; Tacy DJ ; et al. (2013)
Recurrent modification of a conserved cis-regulatory element underlies fruit fly pigmentation divers[...]
GP00002008
bab1
Q9W0K7
Morphology
causing mutation(s) unknown. Cis-regulatory element assayed with a GFP reporter in D. melanogaster.
Drosophila melanogaster
fruit fly - (species)
Drosophila yakuba
(species)
bab
Drosophila yakuba
(species)
Published - Accepted by Curator
bab
Coloration (abdomen; female)
Cis-regulatory,
Unknown
Drosophila fuyamai
(species)
Interspecific
Candidate Gene
Rogers WA; Salomone JR; Tacy DJ ; et al. (2013)
Recurrent modification of a conserved cis-regulatory element underlies fruit fly pigmentation divers[...]
GP00002009
bab1
Q9W0K7
Morphology
causing mutation(s) unknown. Cis-regulatory element assayed with a GFP reporter in D. melanogaster.
Drosophila melanogaster
fruit fly - (species)
Drosophila fuyamai
(species)
bab
Drosophila fuyamai
(species)
Published - Accepted by Curator
bab
Coloration (abdomen; female)
Cis-regulatory,
Unknown
Drosophila auraria
(species)
Interspecific
Candidate Gene
Rogers WA; Salomone JR; Tacy DJ ; et al. (2013)
Recurrent modification of a conserved cis-regulatory element underlies fruit fly pigmentation divers[...]
GP00002010
bab1
Q9W0K7
Morphology
causing mutation(s) unknown. Cis-regulatory element assayed with a GFP reporter in D. melanogaster.
Drosophila melanogaster
fruit fly - (species)
Drosophila auraria
(species)
bab
Drosophila auraria
(species)
Published - Accepted by Curator
bab
Coloration (abdomen ; sexual trait ; plasticity)
Cis-regulatory,
Deletion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
De Castro S; Peronnet F; Gilles JF ; et al. (2018)
bric à brac (bab), a central player in the gene regulatory network that mediates thermal plasticity [...]
GP00002423
bab1
Q9W0K7
Morphology
a 56-bp deletion that removes two binding sites for Abdominal B (Abd-B), a direct activator of bab, is present in a cis-regulatiry region of bab1 (within the first intron of bab1) in the Dark line.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
bab
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
bab
Insect pheromone attraction
Cis-regulatory,
Unknown
Ostrinia nubilalis
European corn borer - (species)
Intraspecific
Association Mapping
Unbehend M; Kozak GM; Koutroumpa F ; et al. (2021)
bric à brac controls sex pheromone choice by male European corn borer moths.
GP00002424
bab1
Q9W0K7
Behavior; Physiology
A genome-wide association study of pheromone preference under field conditions indicates that preference is controlled by sequence variation within the 293 kb bab intron 1.
Ostrinia nubilalis
European corn borer - (species)
Ostrinia nubilalis
European corn borer - (species)
bab
Ostrinia nubilalis
European corn borer - (species)
Published - Accepted by Curator
bab
Coloration (wing; male ; irridescence)
Cis-regulatory,
Unknown
Interspecific
Linkage Mapping
Ficarrotta V; Hanly JJ; Loh LS ; et al. (2022)
A genetic switch for male UV iridescence in an incipient species pair of sulphur butterflies.
GP00002425
bab1
Q9W0K7
Morphology
no fixed coding variation at the bab locus between the sister species. Lower expression of bab in the irridescent scale species. CRISPR bab mutants show that bab is a negative regulator of irridescent scales.
Colias philodice
clouded sulphur butterfly - (species)
bab
Published - Accepted by Curator
bab
Coloration (abdomen; female)
2 Mutations:
Cis-regulatory
SNP
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Candidate Gene
Rogers WA; Salomone JR; Tacy DJ ; et al. (2013)
Recurrent modification of a conserved cis-regulatory element underlies fruit fly pigmentation divers[...]
GP00002610
bab1
Q9W0K7
Morphology
2 mutations
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
bab
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
bab
Coloration (abdomen; female)
2 Mutations:
Cis-regulatory
SNP
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Candidate Gene
Rogers WA; Salomone JR; Tacy DJ ; et al. (2013)
Recurrent modification of a conserved cis-regulatory element underlies fruit fly pigmentation divers[...]
GP00002611
bab1
Q9W0K7
Morphology
2 mutations
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
bab
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
bab1
Coloration (abdomen)
3 Mutations:
Cis-regulatory
Unknown
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Kopp A; Graze RM; Xu S ; et al. (2003)
Quantitative trait loci responsible for variation in sexually dimorphic traits in Drosophila melanog[...]
1 Additional References
GP00000130
bab1
Q9W0K7
Morphology
3 mutations
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
bab1
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
bab1
Coloration (abdomen)
Cis-regulatory,
Unknown
Drosophila melanogaster
fruit fly - (species) D
Interspecific
Candidate Gene
Williams TM; Selegue JE; Werner T ; et al. (2008)
The regulation and evolution of a genetic switch controlling sexually dimorphic traits in Drosophila[...]
GP00000131
bab1
Q9W0K7
Morphology
inter - ABD-B- and DSX- binding site spacing was reduced in regions I, II, and III
gain of ABD-B binding site 13
Drosophila willistoni
(species)
Drosophila melanogaster
fruit fly - (species) D
bab1
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
BarH1
Coloration (wing; sex-specific; female-specific)
Cis-regulatory,
Insertion
Colias croceus
clouded yellow - (species) D
Intraspecific
Association Mapping
Woronik A; Tunström K; Perry MW ; et al. (2019)
A transposable element insertion is associated with an alternative life history strategy.
GP00002095
B-H1
Q24255
Morphology
insertion of a Jockey-like transposable element 6 kb downstream of the Colias homolog of BarH-1. BarH-1 expression suppresses orange coloration in the wings.
Colias croceus
clouded yellow - (species)
Colias croceus
clouded yellow - (species) D
BarH1
Colias croceus
clouded yellow - (species)
Published - Accepted by Curator
BCMO1
Carotenoid content
2 Mutations:
Cis-regulatory
SNP
Gallus gallus
chicken - (species)
Domesticated
Linkage Mapping
Le Bihan-Duval E; Nadaf J; Berri C ; et al. (2011)
Detection of a Cis [corrected] eQTL controlling BCMO1 gene expression leads to the identification of[...]
GP00000137
BCO1
Q9HAY6
Morphology; Physiology
2 mutations
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
BCMO1
Gallus gallus
chicken - (species)
Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2
Carotenoid content (skin ; shanks)
Cis-regulatory,
Unknown
Gallus sonneratii
gray junglefowl - (species) D
Gallus gallus
chicken - (species) D
Interspecific
Linkage Mapping
Eriksson J; Larson G; Gunnarsson U ; et al. (2008)
Identification of the yellow skin gene reveals a hybrid origin of the domestic chicken.
1 Additional References
GP00000139
BCO2
Q9BYV7
Morphology; Physiology
Not identified
Gallus gallus
chicken - (species)
Gallus sonneratii
gray junglefowl - (species) D
Gallus gallus
chicken - (species) D
BCO2 = beta-carotene oxygenase 2
Gallus sonneratii
gray junglefowl - (species)
Gallus gallus
chicken - (species)
Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2
Coloration (coat)
Cis-regulatory,
Unknown
Vermivora cyanoptera
blue-winged warbler - (species)
Interspecific
Association Mapping
Toews DP; Taylor SA; Vallender R ; et al. (2016)
Plumage Genes and Little Else Distinguish the Genomes of Hybridizing Warblers.
GP00001332
BCO2
Q9BYV7
Morphology
unknown - the divergent region falls in the 5prime region that is directly upstream of the associated coding region
Vermivora chrysoptera
Golden-winged warbler - (species)
Vermivora cyanoptera
blue-winged warbler - (species)
BCO2 = beta-carotene oxygenase 2
Vermivora cyanoptera
blue-winged warbler - (species)
Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2
Coloration (ventral scales)
Cis-regulatory,
Unknown
Podarcis muralis
Common wall lizard - (species)
Intraspecific
Association Mapping
Andrade P; Pinho C; Pérez I de Lanuza G ; et al. (2019)
Regulatory changes in pterin and carotenoid genes underlie balanced color polymorphisms in the wall [...]
GP00002120
Bco2
Q99NF1
Morphology
Podarcis muralis
Common wall lizard - (species)
Podarcis muralis
Common wall lizard - (species)
BCO2 = beta-carotene oxygenase 2
Podarcis muralis
Common wall lizard - (species)
Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2
Coloration (beak)
Cis-regulatory,
Unknown
Geospiza scandens
(species) D
Geospiza fortis
medium ground-finch - (species) D
Geospiza conirostris
(species) D
Geospiza magnirostris
(species) D
Geospiza fuliginosa
(species) D
Camarhynchus parvulus
(species) D
Camarhynchus pauper
(species) D
Camarhynchus pallidus
woodpecker finch - (species) D
Geospiza difficilis
(species) D
Intraspecific
Association Mapping
Enbody ED; Sprehn CG; Abzhanov A ; et al. (2021)
A multispecies BCO2 beak color polymorphism in the Darwin's finch radiation.
GP00002384
BCO2
Q9BYV7
Morphology
"By closely inspecting this region in a combined sample of all 456 finches of the two species we identified a single exonic SNP with a likelihood ratio test (LRT) statistic exceeding 166 (Figure 1C). It is also the only consistently elevated SNP in an analysis of each species alone (Figure S1), is the best fit variant under a recessive model (STAR Methods), and occurs on multiple haplotypes (Figure S1C). This SNP (chr24:6,166,878; p6166878 hereafter) leads to a synonymous change 32 bp into exon 4 of BCO2. "
"The functional importance of the observed synonymous change is uncertain, and the presence of an unidentified linked causal variant cannot be completely ruled out (see Conclusions). However, a functional explanation is possible because codon usage can be under strong selection30 and may have functional consequences on translation,30 RNA stability,31 and transcription.32 Notably, p6166878 changes the highest frequency valine codon (ƒGTG = 27.3%) to the lowest (ƒGTA = 7.6%) in the reference genome. This is in line with the observed phenotypic effect of the yellow mutation because a lower abundance codon is expected to be associated with lower protein expression.33 In this case, less BCO2 activity results in more carotenoid deposition in the yellow morph. In fact, we found that yellow homozygotes showed significantly lower BCO2 expression compared to pink homozygotes in the upper beak of developing embryos (Figure 1F) that were sourced from a variety of different species and islands (Table S1): small sample sizes prohibit species-specific analysis. Among the six heterozygous individuals, the pink allele was expressed more than the yellow allele in five samples tested using a droplet-digital PCR (Figure S2C). Differences in expression between the two alleles, and in the absence of alternative splice variants (STAR Methods), raise the possibility that the synonymous change alters transcription factor binding affinity in exon 4. Further research into tissue-specific expression and the specific transcription factors that regulate BCO2 is warranted."
Geospiza scandens
(species)
Geospiza fortis
medium ground-finch - (species)
Geospiza conirostris
(species)
Geospiza magnirostris
(species)
Geospiza fuliginosa
(species)
Camarhynchus parvulus
(species)
Camarhynchus pauper
(species)
Camarhynchus pallidus
woodpecker finch - (species)
Geospiza difficilis
(species)
Geospiza scandens
(species) D
Geospiza fortis
medium ground-finch - (species) D
Geospiza conirostris
(species) D
Geospiza magnirostris
(species) D
Geospiza fuliginosa
(species) D
Camarhynchus parvulus
(species) D
Camarhynchus pauper
(species) D
Camarhynchus pallidus
woodpecker finch - (species) D
Geospiza difficilis
(species) D
BCO2 = beta-carotene oxygenase 2
Geospiza scandens
(species)
Geospiza fortis
medium ground-finch - (species)
Geospiza conirostris
(species)
Geospiza magnirostris
(species)
Geospiza fuliginosa
(species)
Camarhynchus parvulus
(species)
Camarhynchus pauper
(species)
Camarhynchus pallidus
woodpecker finch - (species)
Geospiza difficilis
(species)
Published - Accepted by Curator
benzoic acid/salicylic acid carboxyl methyltransferase (BSMT)
Fragrance
Cis-regulatory,
Unknown
Petunia axillaris
(species) D
Interspecific
Linkage Mapping
Amrad A; Moser M; Mandel T ; et al. (2016)
Gain and Loss of Floral Scent Production through Changes in Structural Genes during Pollinator-Media[...]
GP00001766
BSMT1
Q6XMI3
Physiology
Allele-specific expression in hybrids - de novo expression in P. axillaris
Petunia integrifolia subsp. inflata
(subspecies)
Petunia axillaris
(species) D
benzoic acid/salicylic acid carboxyl methyltransferase (BSMT)
Petunia axillaris
(species)
Published - Accepted by Curator
benzoyl-CoA:benzylalcohol/2-phenylethanol benzoyltransferase (BPBT)
Fragrance
Cis-regulatory,
Unknown
Petunia axillaris
(species) D
Interspecific
Linkage Mapping
Amrad A; Moser M; Mandel T ; et al. (2016)
Gain and Loss of Floral Scent Production through Changes in Structural Genes during Pollinator-Media[...]
GP00001765
BPBT
A0A172W606
Physiology
Allele-specific expression in hybrids - de novo expression in P. axillaris
Petunia integrifolia subsp. inflata
(subspecies)
Petunia axillaris
(species) D
benzoyl-CoA:benzylalcohol/2-phenylethanol benzoyltransferase (BPBT)
Petunia axillaris
(species)
Published - Accepted by Curator
BMP15
Fertility (increased ovulation rate)
Cis-regulatory,
SNP
Ovis aries
sheep - (species) D
Domesticated
Association Mapping
Demars J; Fabre S; Sarry J ; et al. (2013)
Genome-wide association studies identify two novel BMP15 mutations responsible for an atypical hyper[...]
GP00002329
Bmp15
Q9Z0L4
Physiology
T>A SPN upstream of the BMP15 gene associated with the prolificacy variability (P = 1.93E-11). Effect of +0.20 lamb per lambing at the heterozygous state.
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BMP15
Ovis aries
sheep - (species)
Published - Accepted by Curator
BMP2
Fertility (egg production)
Bird head morphology (male comb)
Cis-regulatory,
Unknown
Gallus gallus
chicken - (species)
Domesticated
Linkage Mapping
Johnsson M; Gustafson I; Rubin CJ ; et al. (2012)
A sexual ornament in chickens is affected by pleiotropic alleles at HAO1 and BMP2, selected during d[...]
1 Additional References
GP00000151
BMP2
Q90751
Physiology
Morphology
unknown; but intergenic QTL peak with decomposed effects on expression of BMP2 and HAO1
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
BMP2
Gallus gallus
chicken - (species)
Published - Accepted by Curator
BMP6
Tooth number
Cis-regulatory,
Unknown
Gasterosteus aculeatus
three-spined stickleback - (species) D
Intraspecific
Linkage Mapping
Cleves PA; Ellis NA; Jimenez MT ; et al. (2014)
Evolved tooth gain in sticklebacks is associated with a cis-regulatory allele of Bmp6.
2 Additional References
GP00000154
Bmp6
P20722
Morphology
Candidate enhancer of 190bp recapitulating tooth and fin expression of BMP6
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species) D
BMP6
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
BOLTING TIME CONTROL 1 (BvBTC1)
Flowering time
Cis-regulatory,
Unknown
Beta vulgaris
(species)
Domesticated
Linkage Mapping
Pin PA; Zhang W; Vogt SH ; et al. (2012)
The role of a pseudo-response regulator gene in life cycle adaptation and domestication of beet.
GP00000155
BTC1
I3NN18
Physiology
unknown
Beta vulgaris
(species)
Beta vulgaris
(species)
BOLTING TIME CONTROL 1 (BvBTC1)
Beta vulgaris
(species)
Published - Accepted by Curator
c1
Coloration (seed)
Cis-regulatory,
Insertion
Zea mays
(species) D
Domesticated
Linkage Mapping
Hattori T; Vasil V; Rosenkrans L ; et al. (1992)
The Viviparous-1 gene and abscisic acid activate the C1 regulatory gene for anthocyanin biosynthesis[...]
1 Additional References
GP00000167
C1
P10290
Morphology
5bp insertion in the proximal promoter that creates a new binding site for VP1; a transcription factor that regulates kernel maturation; so that the pigment pathway is turned on while the kernel matures; giving blue kernels
Zea mays
(species)
Zea mays
(species) D
c1
Zea mays
(species)
Published - Accepted by Curator
Callipyge (CLPG1)
Muscular mass (double-muscling ; paternal effect)
Cis-regulatory,
SNP
Ovis aries
sheep - (species)
Domesticated
Linkage Mapping
Takeda H; Caiment F; Smit M ; et al. (2006)
The callipyge mutation enhances bidirectional long-range DLK1-GTL2 intergenic transcription in cis.
5 Additional References
GP00000168
DIO3
Q6DN07
Morphology; Physiology
1bp change in the regulatory region of the DLK1-GTL2 imprinted gene cluster
Ovis aries
sheep - (species)
Ovis aries
sheep - (species)
Callipyge (CLPG1)
Ovis aries
sheep - (species)
Published - Accepted by Curator
CAST
Meat tenderness
Cis-regulatory,
Unknown
Sus scrofa domesticus
domestic pig - (subspecies)
Domesticated
Linkage Mapping
Nonneman D; Lindholm-Perry AK; Shackelford SD ; et al. (2011)
Predictive markers in calpastatin for tenderness in commercial pig populations.
GP00000170
CAST
P20810
Physiology
4 candidate SNPs in putative enhancers with nuclear factor-binding properties
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies)
CAST
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
catechol-O-methyltransferase (COMT)
Pain sensitivity
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Nackley AG; Shabalina SA; Tchivileva IE ; et al. (2006)
Human catechol-O-methyltransferase haplotypes modulate protein expression by altering mRNA secondary[...]
GP00000171
COMT
P21964
Behavior
G/C - The synonymous mutation(s) affect mRNA stability and loop structures
Homo sapiens
human - (species)
Homo sapiens
human - (species)
catechol-O-methyltransferase (COMT)
Homo sapiens
human - (species)
Published - Accepted by Curator
CCAAT-enhancer-binding protein alpha (CEBPA)
Hematopoiesis (blood basophil count)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017)
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]
GP00001603
CEBPA
P49715
Physiology
C>T at the associated SNP which resides 39kb dowstream from CEBPA near a separate enhancer that influences CEBPA expression along various myeloid lineages. T allele was associated with a 28.6% reduction in enhancer activity.
Homo sapiens
human - (species)
Homo sapiens
human - (species)
CCAAT-enhancer-binding protein alpha (CEBPA)
Homo sapiens
human - (species)
Published - Accepted by Curator
CDKN2A
Coloration (feathers ; sex-linked dilution)
2 Mutations:
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Schwochow Thalmann D; Ring H; Sundström E ; et al. (2017)
The evolution of Sex-linked barring alleles in chickens involves both regulatory and coding changes [...]
1 Additional References
GP00000178
CDKN2A
P42771
Morphology
2 mutations
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
CDKN2A
Gallus gallus
chicken - (species)
Published - Accepted by Curator
CDKN2A
Coloration (feathers ; sex-linked barring)
2 Mutations:
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Schwochow Thalmann D; Ring H; Sundström E ; et al. (2017)
The evolution of Sex-linked barring alleles in chickens involves both regulatory and coding changes [...]
1 Additional References
GP00002162
CDKN2A
P42771
Morphology
2 mutations
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
CDKN2A
Gallus gallus
chicken - (species)
Published - Accepted by Curator
CG11699
Xenobiotic resistance
Cis-regulatory,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Association Mapping
Mateo L; Ullastres A; González J (2014)
A transposable element insertion confers xenobiotic resistance in Drosophila.
GP00001399
Dmel\CG11699
Q9VYX5
Physiology
insertion of a 186bp POGON1 element in the 3'UTR
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
CG11699
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Chalk5
Grain chalkiness
Amylose content
Grain yield
Cis-regulatory,
SNP
Oryza sativa
rice - (species)
Intraspecific
Linkage Mapping
Li Y; Fan C; Xing Y ; et al. (2014)
Chalk5 encodes a vacuolar H(+)-translocating pyrophosphatase influencing grain chalkiness in rice.
GP00001309
Chalk5
A2Y0L3
Morphology
Physiology
Physiology
Two candidate SNPs at positions -721 and - 485 in promoter region
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
Chalk5
Oryza sativa
rice - (species)
Published - Accepted by Curator
Chit beta-GlcNAcase
Silk fineness
Cis-regulatory,
Unknown
Bombyx mori
domestic silkworm - (species) D
Domesticated
Association Mapping
Tong X; Han MJ; Lu K ; et al. (2022)
High-resolution silkworm pan-genome provides genetic insights into artificial selection and ecologic[...]
GP00002401
P49010
Physiology
BmChit β-GlcNAcase gene is expressed at a significantly higher level in fine silk strains (Suxiu, Chunfeng) compared to coarse silk strains. CRISPR-cas9 mediated knockout of the BmChit β-GlcNAcase gene produced coarser silk.
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
Chit beta-GlcNAcase
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
Cinnamate-CoA ligase 1 (CNL1)
Fragrance
3 Mutations:
N
Petunia exserta
(species) D
Interspecific
Linkage Mapping
Amrad A; Moser M; Mandel T ; et al. (2016)
Gain and Loss of Floral Scent Production through Changes in Structural Genes during Pollinator-Media[...]
GP00001391
CNL
A0A172W603
Physiology
3 mutations
Petunia axillaris
(species)
Petunia exserta
(species) D
Cinnamate-CoA ligase 1 (CNL1)
Petunia exserta
(species)
Published - Accepted by Curator
CIS1
Xenobiotic resistance (citrinin)
Cis-regulatory,
Unknown
Saccharomyces paradoxus
(species) D
Domesticated
Association Mapping
Naranjo S; Smith JD; Artieri CG ; et al. (2015)
Dissecting the Genetic Basis of a Complex cis-Regulatory Adaptation.
GP00001313
ATG31
Q12421
Physiology
mutations within 1kb in promotor region
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces paradoxus
(species) D
CIS1
Saccharomyces paradoxus
(species)
Published - Accepted by Curator
CLV3
Fruit size
Cis-regulatory,
Inversion
Solanum lycopersicum
tomato - (species) D
Domesticated
Linkage Mapping
Xu C; Liberatore KL; MacAlister CA ; et al. (2015)
A cascade of arabinosyltransferases controls shoot meristem size in tomato.
GP00001565
CLV3
Q9XF04
Morphology
A 294 kb inversion with a breakpoint 1 kb upstream of CLV3
Solanum pimpinellifolium
(species)
Solanum lycopersicum
tomato - (species) D
CLV3
Solanum lycopersicum
tomato - (species)
Published - Accepted by Curator
cly1
Pollen shedding (Cleistogamy; lodicule size)
Cis-regulatory,
SNP
Hordeum vulgare
(species) D
Domesticated
Linkage Mapping
Nair SK; Wang N; Turuspekov Y ; et al. (2010)
Cleistogamous flowering in barley arises from the suppression of microRNA-guided HvAP2 mRNA cleavage[...]
1 Additional References
GP00001314
AP2
P47927
Morphology
A>G @position 3084; in a miRNA targeting site.
Hordeum vulgare
(species)
Hordeum vulgare
(species) D
cly1
Hordeum vulgare
(species)
Published - Accepted by Curator
cly1
Pollen shedding (Cleistogamy; lodicule size)
Cis-regulatory,
SNP
Hordeum vulgare
(species) D
Domesticated
Linkage Mapping
Nair SK; Wang N; Turuspekov Y ; et al. (2010)
Cleistogamous flowering in barley arises from the suppression of microRNA-guided HvAP2 mRNA cleavage[...]
1 Additional References
GP00001315
AP2
P47927
Morphology
A>C @position 3090; in a miRNA targeting site.
Hordeum vulgare
(species)
Hordeum vulgare
(species) D
cly1
Hordeum vulgare
(species)
Published - Accepted by Curator
cly1
Pollen shedding (Cleistogamy; lodicule size)
Cis-regulatory,
Epigenetic Change
Hordeum vulgare
(species) D
Domesticated
Linkage Mapping
Wang N; Ning S; Wu J ; et al. (2015)
An epiallele at cly1 affects the expression of floret closing (cleistogamy) in barley.
GP00001316
AP2
P47927
Morphology
T>C @position -245; creating differential methylation
Hordeum vulgare
(species)
Hordeum vulgare
(species) D
cly1
Hordeum vulgare
(species)
Published - Accepted by Curator
CmWIP1
Flower sex determination (female vs. hermaphrodite)
Cis-regulatory,
Insertion
Cucumis melo
muskmelon - (species) D
Domesticated
Linkage Mapping
Martin A; Troadec C; Boualem A ; et al. (2009)
A transposon-induced epigenetic change leads to sex determination in melon.
GP00000188
WIP1
Q8GXA4
Physiology
Promoter insertion of a Transcription Factor Binding Site allowing propagation of heritable methylation
Cucumis melo
muskmelon - (species)
Cucumis melo
muskmelon - (species) D
CmWIP1
Cucumis melo
muskmelon - (species)
Published - Accepted by Curator
colored plant 1
Coloration (seed)
Cis-regulatory,
Unknown
Zea mays
(species)
Domesticated
Linkage Mapping
Radicella JP; Brown D; Tolar LA ; et al. (1992)
Allelic diversity of the maize B regulatory gene: different leader and promoter sequences of two B a[...]
GP00000190
b1
W5S3Q3
Morphology
Not identified
Zea mays
(species)
Zea mays
(species)
colored plant 1
Zea mays
(species)
Published - Accepted by Curator
cortex
Coloration (wing ; industrial melanism ; camouflage)
Cis-regulatory,
Insertion
Biston betularia
pepper-and-salt moth - (species) D
Intraspecific
Linkage Mapping
Van't Hof AE; Campagne P; Rigden DJ ; et al. (2016)
The industrial melanism mutation in British peppered moths is a transposable element.
GP00001804
cort
Q960N3
Morphology
Putative transposon insertion within the first intron ; consists of of ~9 kb tandemly repeated 2.3 times + three short tandem subrepeat units
Biston betularia
pepper-and-salt moth - (species)
Biston betularia
pepper-and-salt moth - (species) D
cortex
Biston betularia
pepper-and-salt moth - (species)
Published - Accepted by Curator
cortex
Coloration (wing)
Cis-regulatory,
Deletion
Heliconius melpomene
postman butterfly - (species) D
Domesticated
Association Mapping
Hanly JJ; Livraghi L; Heryanto C ; et al. (2022)
A large deletion at the cortex locus eliminates butterfly wing patterning.
GP00001805
cort
Q960N3
Morphology
78-kb deletion in the 5′ region of the cortex gene that includes a facultative 5′UTR exon detected in larval wing disk transcriptomes. Phenotypic effect confirmed by CRISPR mutagenesis of this exon. The ivory deletion causes the loss of 1 of 2 promoters.
Heliconius melpomene
postman butterfly - (species)
Heliconius melpomene
postman butterfly - (species) D
cortex
Heliconius melpomene
postman butterfly - (species)
Published - Accepted by Curator
cortex
Coloration (wing ; leaf mimicry ; camouflage)
Cis-regulatory,
Complex Change
Kallima inachus
orange oakleaf - (species) D
Intraspecific
Association Mapping
Wang S; Teng D; Li X ; et al. (2022)
The evolution and diversification of oakleaf butterflies.
GP00002413
cort
Q960N3
Morphology
Kallima inachus
orange oakleaf - (species)
Kallima inachus
orange oakleaf - (species) D
cortex
Kallima inachus
orange oakleaf - (species)
Published - Accepted by Curator
cortex
Coloration (wing ; leaf mimicry ; camouflage)
Cis-regulatory,
Unknown
Kallima inachus
orange oakleaf - (species) D
Intraspecific
Association Mapping
Wang S; Teng D; Li X ; et al. (2022)
The evolution and diversification of oakleaf butterflies.
GP00002414
cort
Q960N3
Morphology
Kallima inachus
orange oakleaf - (species)
Kallima inachus
orange oakleaf - (species) D
cortex
Kallima inachus
orange oakleaf - (species)
Published - Accepted by Curator
cortex
Coloration (wing ; leaf mimicry ; camouflage)
Cis-regulatory,
Unknown
Kallima inachus
orange oakleaf - (species) D
Intraspecific
Association Mapping
Wang S; Teng D; Li X ; et al. (2022)
The evolution and diversification of oakleaf butterflies.
GP00002415
cort
Q960N3
Morphology
Kallima inachus
orange oakleaf - (species)
Kallima inachus
orange oakleaf - (species) D
cortex
Kallima inachus
orange oakleaf - (species)
Published - Accepted by Curator
cortex
Coloration (wing ; leaf mimicry ; camouflage)
Cis-regulatory,
Unknown
Kallima inachus
orange oakleaf - (species) D
Intraspecific
Association Mapping
Wang S; Teng D; Li X ; et al. (2022)
The evolution and diversification of oakleaf butterflies.
GP00002416
cort
Q960N3
Morphology
Large inversion and many mutations in the large inverted region.
Kallima inachus
orange oakleaf - (species)
Kallima inachus
orange oakleaf - (species) D
cortex
Kallima inachus
orange oakleaf - (species)
Published - Accepted by Curator
cortex
Coloration (wing; seasonal)
Cis-regulatory,
Unknown
Junonia coenia
buckeye - (species) D
Experimental Evolution
Association Mapping
van der Burg KRL; Lewis JJ; Brack BJ ; et al. (2020)
Genomic architecture of a genetically assimilated seasonal color pattern.
GP00002420
cort
Q960N3
Morphology
No variation in coding region. Strong association with cis-regulatory SNP.
Junonia coenia
buckeye - (species)
Junonia coenia
buckeye - (species) D
cortex
Junonia coenia
buckeye - (species)
Published - Accepted by Curator
cortex
Coloration (wing)
Cis-regulatory,
Insertion
Heliconius melpomene
postman butterfly - (species) D
Intraspecific
Association Mapping
Livraghi L; Hanly JJ; Van Bellghem SM ; et al. (2021)
Cortex cis-regulatory switches establish scale colour identity and pattern diversity in Heliconius.
GP00002660
cort
Q960N3
Morphology
Insertion of two transposable elements (BovB-like and Helitron-like)
Heliconius melpomene
postman butterfly - (species)
Heliconius melpomene
postman butterfly - (species) D
cortex
Heliconius melpomene
postman butterfly - (species)
Published - Accepted by Curator
CS
Plant secondary metabolite (pungency)
Cis-regulatory,
Deletion
N
Capsicum annuum
(species) D
Domesticated
Candidate Gene
Kim S; Park M; Yeom SI ; et al. (2014)
Genome sequence of the hot pepper provides insights into the evolution of pungency in Capsicum speci[...]
1 Additional References
GP00001447
csy1
Q09UW1
Physiology
Large 2.5 kb deletion spanning 1.8 kb of the putative promoter and 0.7 kb of the first exon was observed in the C. annuum Bellpeppers N
Capsicum frutescens
(species)
Capsicum annuum
(species) D
CS
Capsicum annuum
(species)
Published - Accepted by Curator
csf1
Coloration
Cis-regulatory,
Unknown
Oryzias woworae
(species) D
Interspecific
Linkage Mapping
Ansai S; Mochida K; Fujimoto S ; et al. (2021)
Genome editing reveals fitness effects of a gene for sexual dichromatism in Sulawesian fishes.
GP00002366
CSF1
P09603
Morphology
Oryzias celebensis
Celebes medaka - (species)
Oryzias woworae
(species) D
csf1
Oryzias woworae
(species)
Published - Accepted by Curator
csf1a
Coloration (loss of stripes)
Cis-regulatory,
Unknown
Danio albolineatus
pearl danio - (species) D
Interspecific
Candidate Gene
Patterson LB; Bain EJ; Parichy DM (2014)
Pigment cell interactions and differential xanthophore recruitment underlying zebrafish stripe reite[...]
GP00002123
csf1a
A0A0B5JQ49
Morphology
Danio rerio
zebrafish - (species)
Danio albolineatus
pearl danio - (species) D
csf1a
Danio albolineatus
pearl danio - (species)
Published - Accepted by Curator
CYC-like HaCYC2c
Flower morphology
Cis-regulatory,
Insertion
Helianthus annuus
common sunflower - (species) D
Intraspecific
Linkage Mapping
Chapman MA; Tang S; Draeger D ; et al. (2012)
Genetic analysis of floral symmetry in Van Gogh's sunflowers reveals independent recruitment of CYCL[...]
GP00000193
CYC
O49250
Morphology
999bp insertion in promoter
Helianthus annuus
common sunflower - (species)
Helianthus annuus
common sunflower - (species) D
CYC-like HaCYC2c
Helianthus annuus
common sunflower - (species)
Published - Accepted by Curator
CYCD5;1
Endoreduplication
Cis-regulatory,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Sterken R; Kiekens R; Boruc J ; et al. (2012)
Combined linkage and association mapping reveals CYCD5;1 as a quantitative trait gene for endoredupl[...]
GP00000196
CYCD5-1
Q2V3B2
Physiology
unknown
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
CYCD5;1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Cycloidea (Lcyc)
Flower morphology
Cis-regulatory,
Epigenetic Change
Linaria vulgaris
common toadflax - (species) D
Intraspecific
Linkage Mapping
Cubas P; Vincent C; Coen E (1999)
An epigenetic mutation responsible for natural variation in floral symmetry.
GP00000197
CYC
O49250
Morphology
Stable methylation
Linaria vulgaris
common toadflax - (species)
Linaria vulgaris
common toadflax - (species) D
Cycloidea (Lcyc)
Linaria vulgaris
common toadflax - (species)
Published - Accepted by Curator
CYP19A1
Coloration (feathers)
Cis-regulatory,
Insertion
Gallus gallus
chicken - (species) D
Domesticated
Candidate Gene
Li J; Davis BW; Jern P ; et al. (2019)
Characterization of the endogenous retrovirus insertion in CYP19A1 associated with henny feathering [...]
GP00002050
CYP19A1
P11511
Morphology
7524 bp insertion at the 5'end of CYP19A1 of an intact endogenous retrovirus (99% sequence identity to the avian leukosis virus ev-1 and ev-21 strains suggesting a recent integration) - The ERV 3'LTR contains a powerful transcriptional enhancer and core promoter with TATA box.
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
CYP19A1
Gallus gallus
chicken - (species)
Published - Accepted by Curator
CYP321A8
Xenobiotic resistance (organophosphate; chlorpyrifos; pyrethroid; cypermethrin; deltamethrin)
Cis-regulatory,
SNP
Spodoptera exigua
beet armyworm - (species) D
Intraspecific
Candidate Gene
Hu B; Huang H; Hu S ; et al. (2021)
Changes in both trans- and cis-regulatory elements mediate insecticide resistance in a lepidopteron [...]
GP00002394
CYP321A8
A0A286QUG5
Physiology
A > G at position -197bp in a cis-regulatory region, leading to increased expression of the gene
Spodoptera exigua
beet armyworm - (species)
Spodoptera exigua
beet armyworm - (species) D
CYP321A8
Spodoptera exigua
beet armyworm - (species)
Published - Accepted by Curator
CYP392E8
Xenobiotic resistance
Cis-regulatory,
Unknown
Tetranychus urticae
two-spotted spider mite - (species) D
Intraspecific
Linkage Mapping
Fotoukkiaii SM; Wybouw N; Kurlovs AH ; et al. (2021)
High-resolution genetic mapping reveals cis-regulatory and copy number variation in loci associated [...]
GP00002397
Physiology
increase in transcription of CYP392E8.
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species) D
CYP392E8
Tetranychus urticae
two-spotted spider mite - (species)
Published - Accepted by Curator
CYP6AY1
Xenobiotic resistance (imidacloprid; buprofezin)
Cis-regulatory,
Unknown
Nilaparvata lugens
brown planthopper - (species) D
Intraspecific
Candidate Gene
Pang R; Li Y; Dong Y ; et al. (2014)
Identification of promoter polymorphisms in the cytochrome P450 CYP6AY1 linked with insecticide resi[...]
GP00002399
CYP6AY1
A0A1L1VFS3
Physiology
CYP6AY1 is expressed at a higher level in a field-collected BPH strain that is highly resistant to both imidacloprid and buprofezin. Polymorphism in the promoter region associated with various levels of resistance.
Nilaparvata lugens
brown planthopper - (species)
Nilaparvata lugens
brown planthopper - (species) D
CYP6AY1
Nilaparvata lugens
brown planthopper - (species)
Published - Accepted by Curator
CYP6BG1
Xenobiotic resistance (insecticide)
Cis-regulatory,
Unknown
Plutella xylostella
diamondback moth - (species) D
Intraspecific
Candidate Gene
Li X; Shan C; Li F ; et al. (2019)
Transcription factor FTZ-F1 and cis-acting elements mediate expression of CYP6BG1 conferring resista[...]
1 Additional References
GP00002064
CYP6BG1
A0A222NX20
Physiology
promoters tested in luciferase assays
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species) D
CYP6BG1
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
CYP6CM1
Xenobiotic resistance (insecticide; imidacloprid)
Cis-regulatory,
SNP
Bemisia tabaci
(species) D
Intraspecific
Candidate Gene
Karunker I; Benting J; Lueke B ; et al. (2008)
Over-expression of cytochrome P450 CYP6CM1 is associated with high resistance to imidacloprid in the[...]
GP00002608
A0A6C0PTH9
Physiology
three single-nucleotide polymorphic (SNP) markers in the intron region of CYP6CM1 that discriminate between the resistant and susceptible CYP6CM1 alleles
Bemisia tabaci
(species)
Bemisia tabaci
(species) D
CYP6CM1
Bemisia tabaci
(species)
Published - Accepted by Curator
CYP6CY3
Xenobiotic resistance (insecticide; neonicotinoid; host plant)
Cis-regulatory,
Insertion
Myzus persicae
green peach aphid - (species) D
Intraspecific
Candidate Gene
Bass C; Zimmer CT; Riveron JM ; et al. (2013)
Gene amplification and microsatellite polymorphism underlie a recent insect host shift.
1 Additional References
GP00001474
CYP6CY3
V5SQ25
Physiology
Expansion of a AC dinucleotide microsatellite (from 15 to 48 repeat units) in the promoter 198 bp upstream of the start codon that enhances gene expression
Myzus persicae
green peach aphid - (species)
Myzus persicae
green peach aphid - (species) D
CYP6CY3
Myzus persicae
green peach aphid - (species)
Published - Accepted by Curator
CYP6D1
Xenobiotic resistance (insecticide)
Cis-regulatory,
Insertion
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Gao J; Scott JG (2006)
Role of the transcriptional repressor mdGfi-1 in CYP6D1v1-mediated insecticide resistance in the hou[...]
GP00002118
CYP6D1
Q27698
Physiology
15 bp insertion which disrupts a putative mdGfi-1 binding site in the CYP6D1v1 promoter. mdGfi-1 is a negative regulator of transcription so this leads to increased expression of CYP6D1
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
CYP6D1
Musca domestica
house fly - (species)
Published - Accepted by Curator
CYP6ER1
Xenobiotic resistance (insecticide; imidacloprid)
Cis-regulatory,
Unknown
Nilaparvata lugens
brown planthopper - (species) D
Intraspecific
Candidate Gene
Zimmer CT; Garrood WT; Singh KS ; et al. (2018)
Neofunctionalization of Duplicated P450 Genes Drives the Evolution of Insecticide Resistance in the [...]
GP00002475
cyp6er1
A0A2I8B6P1
Physiology
A significant (up to 9.5-fold) increase in expression driven by the promoter of CYP6ER1vA was observed in comparison to all other promoter variants. This suggests that cis-acting elements in the region upstream of CYP6ER1vA are responsible for the high expression of this variant in BPH populations across Southeast Asia.
Nilaparvata lugens
brown planthopper - (species)
Nilaparvata lugens
brown planthopper - (species) D
CYP6ER1
Nilaparvata lugens
brown planthopper - (species)
Published - Accepted by Curator
CYP6FU1
Xenobiotic resistance (insecticide; deltamethrin)
Cis-regulatory,
Unknown
Laodelphax striatellus
small brown planthopper - (species) D
Intraspecific
Candidate Gene
Pu J; Sun H; Wang J ; et al. (2016)
Multiple cis-acting elements involved in up-regulation of a cytochrome P450 gene conferring resistan[...]
GP00002117
CYP6FU1
A0A1S5R631
Physiology
Four cis-acting elements were identified whose influence on up-regulation was much more pronounced in combination than when present singly.
Laodelphax striatellus
small brown planthopper - (species)
Laodelphax striatellus
small brown planthopper - (species) D
CYP6FU1
Laodelphax striatellus
small brown planthopper - (species)
Published - Accepted by Curator
cyp6g1
Xenobiotic resistance (insecticide)
4 Mutations:
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Chung H; Bogwitz MR; McCart C ; et al. (2007)
Cis-regulatory elements in the Accord retrotransposon result in tissue-specific expression of the Dr[...]
GP00000207
Cyp6g1
Q9V674
Physiology
4 mutations
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
cyp6g1
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
cyp6g1
Xenobiotic resistance (insecticide)
Cis-regulatory,
Insertion
Drosophila simulans
(species) D
Intraspecific
Candidate Gene
Schlenke TA; Begun DJ (2004)
Strong selective sweep associated with a transposon insertion in Drosophila simulans.
GP00002019
Cyp6g1
Q9V674
Physiology
insertion of a Doc transposable element around 200 bp upstream of the putative transcription start site - mutation associated with increased expression of the gene
Drosophila simulans
(species)
Drosophila simulans
(species) D
cyp6g1
Drosophila simulans
(species)
Published - Accepted by Curator
cyp6g1
Xenobiotic resistance (insecticide)
Cis-regulatory,
Insertion
Drosophila simulans
(species) D
Intraspecific
Candidate Gene
Wurmser F; Mary-Huard T; Daudin JJ ; et al. (2013)
Variation of gene expression associated with colonisation of an anthropized environment: comparison [...]
GP00002020
Cyp6g1
Q9V674
Physiology
insertion of a Juan transposable element in the regulatory sequence. The insertion is almost fixed in the Rhône Valley but barely present in Mayotte - mutation associated with increased expression of the gene
Drosophila simulans
(species)
Drosophila simulans
(species) D
cyp6g1
Drosophila simulans
(species)
Published - Accepted by Curator
CYP6P9 cluster (CYP6P9a and CYP6P9b)
Xenobiotic resistance (insecticide)
Cis-regulatory,
Unknown
Anopheles funestus
African malaria mosquito - (species) D
Intraspecific
Candidate Gene
Riveron JM; Irving H; Ndula M ; et al. (2013)
Directionally selected cytochrome P450 alleles are driving the spread of pyrethroid resistance in th[...]
1 Additional References
GP00000208
CYP2C9
P11712
Physiology
Cis-regulatory variation in CYP6P9b gene
Anopheles funestus
African malaria mosquito - (species)
Anopheles funestus
African malaria mosquito - (species) D
CYP6P9 cluster (CYP6P9a and CYP6P9b)
Anopheles funestus
African malaria mosquito - (species)
Published - Accepted by Curator
CYP6P9; CYP6P4 cluster
Xenobiotic resistance (insecticide)
5 Mutations:
Anopheles funestus
African malaria mosquito - (species) D
Intraspecific
Linkage Mapping
Wondji CS; Irving H; Morgan J ; et al. (2009)
Two duplicated P450 genes are associated with pyrethroid resistance in Anopheles funestus, a major m[...]
2 Additional References
GP00000209
Q2YH43
Physiology
5 mutations
Anopheles funestus
African malaria mosquito - (species)
Anopheles funestus
African malaria mosquito - (species) D
CYP6P9; CYP6P4 cluster
Anopheles funestus
African malaria mosquito - (species)
Published - Accepted by Curator
CYP81F2
Glucosinolate content
Herbivore resistance (aphids)
Cis-regulatory,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Pfalz M; Vogel H; Kroymann J (2009)
The gene controlling the indole glucosinolate modifier1 quantitative trait locus alters indole gluco[...]
GP00000212
CYP81F2
Q9LVD6
Physiology
Physiology
unknown
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
CYP81F2
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Dca (=smp-30)
Wing size
Cis-regulatory,
Unknown
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Candidate Gene
Lee SF; Chen Y; Varan AK ; et al. (2011)
Molecular basis of adaptive shift in body size in Drosophila melanogaster: functional and sequence a[...]
1 Additional References
GP00000214
smp-30
Q9VFG5
Morphology
Non-coding
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
Dca (=smp-30)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
DDB1
Resistance to UV irradiation (sun exposure to skin)
Cis-regulatory,
Complex Change
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Crawford NG; Kelly DE; Hansen MEB ; et al. (2017)
Loci associated with skin pigmentation identified in African populations.
GP00001363
DDB1
Q16531
Morphology
most strongly associated SNPs are located in a region conserved across vertebrates flanked by TMEM138 and TMEM216 ~36 to 44 kb upstream of DDB1 and in high LD ; includes rs7948623 located 172 bp downstream of TMEM138 which shows enhancer activity in melanoma cells and interacts with the promoters of DDB1
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
DDB1
Homo sapiens
human - (species)
Published - Accepted by Curator
DEFICIENS
Fruit shape
Cis-regulatory,
Epigenetic Change
Elaeis guineensis
African oil palm - (species) D
Domesticated
Association Mapping
Ong-Abdullah M; Ordway JM; Jiang N ; et al. (2015)
Loss of Karma transposon methylation underlies the mantled somaclonal variant of oil palm.
GP00002100
AP3
P35632
Morphology
hypomethylation of the 3.2 kb oil palm Karma transposable element located within an intron of the DEFICIENS gene - this results in unmasking of a cryptic splice acceptor site and a premature termination signal and causes the mantled fruit phenotype- epigenetic derepression of a TE associated with a deleterious phenotype
Elaeis guineensis
African oil palm - (species)
Elaeis guineensis
African oil palm - (species) D
DEFICIENS
Elaeis guineensis
African oil palm - (species)
Published - Accepted by Curator
Delta
Bristle number (abdomen)
Cis-regulatory,
Unknown
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Long AD; Lyman RF; Langley CH ; et al. (1998)
Two sites in the Delta gene region contribute to naturally occurring variation in bristle number in [...]
1 Additional References
GP00000216
Dl
P10041
Morphology
unknown; associated site in intron 5
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
Delta
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Delta
Bristle number (thorax)
Cis-regulatory,
Unknown
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Long AD; Lyman RF; Langley CH ; et al. (1998)
Two sites in the Delta gene region contribute to naturally occurring variation in bristle number in [...]
1 Additional References
GP00000217
Dl
P10041
Morphology
unknown; associated site in intron 2
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
Delta
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
desatF
Pheromone production
Cis-regulatory,
Unknown
Drosophila melanogaster
fruit fly - (species)
Interspecific
Candidate Gene
Legendre A; Miao XX; Da Lage JL ; et al. (2008)
Evolution of a desaturase involved in female pheromonal cuticular hydrocarbon biosynthesis and court[...]
1 Additional References
GP00000219
desatF
A7DZ97
Physiology
Enrichment/gain of DSX binding sites
Drosophila
(subgenus)
Drosophila melanogaster
fruit fly - (species)
desatF
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
desatF
Pheromone production
Cis-regulatory,
Deletion
Drosophila
(subgenus) D
Interspecific
Candidate Gene
Shirangi TR; Dufour HD; Williams TM ; et al. (2009)
Rapid evolution of sex pheromone-producing enzyme expression in Drosophila.
GP00000220
desatF
A7DZ97
Physiology
Inactivation of DSX-binding site
Drosophila takahashii
(species)
Drosophila
(subgenus) D
desatF
Drosophila
(subgenus)
Published - Accepted by Curator
desaturase 2 (desat2)
Pheromone production
Cis-regulatory,
Deletion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Takahashi A; Tsaur SC; Coyne JA ; et al. (2001)
The nucleotide changes governing cuticular hydrocarbon variation and their evolution in Drosophila m[...]
1 Additional References
GP00000221
Desat2
Q9VG68
Physiology
16bp deletion about 150bp upstream of transcription start site
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
desaturase 2 (desat2)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
determinant of gall color (dgc)
Coloration (induced gall)
Cis-regulatory,
Unknown
Hormaphis cornu
(species)
Intraspecific
Association Mapping
Korgaonkar A; Han C; Lemire AL ; et al. (2021)
A novel family of secreted insect proteins linked to plant gall development.
GP00002392
Morphology
almost complete silencing of dgc expression in salivary glands of aphids carrying the red gall allele
Hormaphis cornu
(species)
Hormaphis cornu
(species)
determinant of gall color (dgc)
Hormaphis cornu
(species)
Published - Accepted by Curator
Distal-less
Coloration (wing)
Cis-regulatory,
Unknown
Bicyclus anynana
squinting bush brown - (species)
Domesticated
Linkage Mapping
Beldade P; Brakefield PM; Long AD (2002)
Contribution of Distal-less to quantitative variation in butterfly eyespots.
GP00000229
Dll
P20009
Morphology
unknown
Bicyclus anynana
squinting bush brown - (species)
Bicyclus anynana
squinting bush brown - (species)
Distal-less
Bicyclus anynana
squinting bush brown - (species)
Published - Accepted by Curator
DOG1 (DELAY OF GERMINATION 1)
Seed dormancy
Cis-regulatory,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Bentsink L; Jowett J; Hanhart CJ ; et al. (2006)
Cloning of DOG1, a quantitative trait locus controlling seed dormancy in Arabidopsis.
3 Additional References
GP00000231
DOG1
A0SVK0
Physiology
Not identified (possibly polyallelic as each cross to the Ler accession showed different DOG1 effects)
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
DOG1 (DELAY OF GERMINATION 1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
DOG1 (DELAY OF GERMINATION 1)
Seed dormancy
Cis-regulatory,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Association Mapping
Kerdaffrec E; Filiault DL; Korte A ; et al. (2016)
Multiple alleles at a single locus control seed dormancy in Swedish Arabidopsis.
GP00001397
DOG1
A0SVK0
Physiology
At least 3 haplotypes defined by 4 SNPs in a putative regulatory region of DOG-1.
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
DOG1 (DELAY OF GERMINATION 1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Dopa-decarboxylase
Bristle number (abdomen)
Cis-regulatory,
Unknown
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Mackay TF; Lyman RF (2005)
Drosophila bristles and the nature of quantitative genetic variation.
GP00000232
Ddc
P05031
Morphology
Promoter variation
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
Dopa-decarboxylase
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Doublesex
Bristle number (male sex comb tooth number)
Cis-regulatory,
Complex Change
obscura group
(species group)
Interspecific
Candidate Gene
Tanaka K; Barmina O; Sanders LE ; et al. (2011)
Evolution of sex-specific traits through changes in HOX-dependent doublesex expression.
GP00000235
dsx
P23023
Morphology
Acquisition of Scr binding sites in enhancer
Sophophora
(subgenus)
obscura group
(species group)
Doublesex
obscura group
(species group)
Published - Accepted by Curator
Doublesex (or neighbouring gene prospero)
Wing shape (sex-specific)
Cis-regulatory,
Unknown
Nasonia giraulti
(species)
Interspecific
Linkage Mapping
Loehlin DW; Oliveira DC; Edwards R ; et al. (2010)
Non-coding changes cause sex-specific wing size differences between closely related species of Nason[...]
GP00000236
dsx
P23023
Morphology
various
Nasonia vitripennis
jewel wasp - (species)
Nasonia giraulti
(species)
Doublesex (or neighbouring gene prospero)
Nasonia giraulti
(species)
Published - Accepted by Curator
Drip
Fertility
Cis-regulatory,
Unknown
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Bergland AO; Chae HS; Kim YJ ; et al. (2012)
Fine-scale mapping of natural variation in fly fecundity identifies neuronal domain of expression an[...]
GP00000237
Drip
Q9V5Z7
Physiology
unknown
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
Drip
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Duffy
Pathogen resistance (Plasmodium; malaria parasite) (malaria)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Tournamille C; Colin Y; Cartron JP ; et al. (1995)
Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy-n[...]
GP00000240
ACKR1
Q16570
Physiology
T to C substitution in 5' region at pos -46
Homo sapiens
human - (species)
Homo sapiens
human - (species)
Duffy
Homo sapiens
human - (species)
Published - Accepted by Curator
E2F1
Silk yield
Cis-regulatory,
Unknown
Bombyx mori
domestic silkworm - (species) D
Domesticated
Association Mapping
Tong X; Han MJ; Lu K ; et al. (2022)
High-resolution silkworm pan-genome provides genetic insights into artificial selection and ecologic[...]
GP00002400
E2f1
Q27368
Physiology
There are one deletion and three insertions in the cis-regulatory region and introns of the E2F1 gene of the improved strain. Higher expression in the improves strain. CRISPR-cas9 mediated knockout of BmE2F1 reduces the number of silk gland cells by 7.68% and silk yield by 22%.
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
E2F1
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
ebony
Coloration (abdomen)
Cis-regulatory,
Unknown
Drosophila novamexicana
(species) D
Intraspecific
Linkage Mapping
Wittkopp PJ; Stewart EE; Arnold LL ; et al. (2009)
Intraspecific polymorphism to interspecific divergence: genetics of pigmentation in Drosophila.
1 Additional References
GP00000248
e
O76858
Morphology
Not identified
Drosophila americana
(species)
Drosophila novamexicana
(species) D
ebony
Drosophila novamexicana
(species)
Published - Accepted by Curator
ebony
Coloration (thorax)
Cis-regulatory,
Unknown
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Takahashi A; Takahashi K; Ueda R ; et al. (2007)
Natural variation of ebony gene controlling thoracic pigmentation in Drosophila melanogaster.
1 Additional References
GP00000249
e
O76858
Morphology
Not identified
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
ebony
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
ebony
Coloration (posterior abdomen)
Cis-regulatory,
Unknown
Drosophila auraria
(species) D
Intraspecific
Candidate Gene
Johnson WC; Ordway AJ; Watada M ; et al. (2015)
Genetic Changes to a Transcriptional Silencer Element Confers Phenotypic Diversity within and betwee[...]
GP00000250
e
O76858
Morphology
Inactivation of a conserved silencer resulting in gain-of-expression; the increase in ebony expression in the light strain occurred primarily through mutations affecting the ebony male-specific silencer element
Drosophila auraria
(species)
Drosophila auraria
(species) D
ebony
Drosophila auraria
(species)
Published - Accepted by Curator
ebony
Coloration (posterior abdomen)
Cis-regulatory,
Unknown
Drosophila serrata
(species) D
Interspecific
Candidate Gene
Johnson WC; Ordway AJ; Watada M ; et al. (2015)
Genetic Changes to a Transcriptional Silencer Element Confers Phenotypic Diversity within and betwee[...]
GP00000251
e
O76858
Morphology
loss of the ebony male-specific silencer function - increased expression of ebony
Drosophila jambulina
(species)
Drosophila serrata
(species) D
ebony
Drosophila serrata
(species)
Published - Accepted by Curator
ebony
Coloration (posterior abdomen)
Cis-regulatory,
Unknown
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Takahashi A; Takano-Shimizu T (2011)
Divergent enhancer haplotype of ebony on inversion In(3R)Payne associated with pigmentation variatio[...]
GP00000252
e
O76858
Morphology
17 nucleotide sites and 2 indels in complete association with the thoracic trident pigmentation intensity in a 13kb region
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
ebony
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
ebony
Coloration (posterior abdomen)
5 Mutations:
Cis-regulatory
SNP
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Rebeiz M; Pool JE; Kassner VA ; et al. (2009)
Stepwise modification of a modular enhancer underlies adaptation in a Drosophila population.
GP00000253
e
O76858
Morphology
5 mutations
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
ebony
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
ebony
Coloration (male-specific)
Cis-regulatory,
SNP
Drosophila malerkotliana
(species)
Intraspecific
Linkage Mapping
Signor SA; Liu Y; Rebeiz M ; et al. (2016)
Genetic Convergence in the Evolution of Male-Specific Color Patterns in Drosophila.
GP00001544
e
O76858
Morphology
5 changes including 4 SNP and 1bp indel in the first intron
Drosophila malerkotliana
(species)
Drosophila malerkotliana
(species)
ebony
Drosophila malerkotliana
(species)
Published - Accepted by Curator
ebony
Coloration (male-specific)
Cis-regulatory,
Unknown
Drosophila pseudoananassae
(species)
Intraspecific
Linkage Mapping
Signor SA; Liu Y; Rebeiz M ; et al. (2016)
Genetic Convergence in the Evolution of Male-Specific Color Patterns in Drosophila.
GP00001545
e
O76858
Morphology
unknown
Drosophila pseudoananassae
(species)
Drosophila pseudoananassae
(species)
ebony
Drosophila pseudoananassae
(species)
Published - Accepted by Curator
ebony
Coloration (abdomen; male)
Cis-regulatory,
Insertion
Drosophila santomea
(species) D
Interspecific
Linkage Mapping
Liu Y; Ramos-Womack M; Han C ; et al. (2019)
Changes throughout a Genetic Network Mask the Contribution of Hox Gene Evolution.
GP00002024
e
O76858
Morphology
insertion of a partial 481 bp fragment related to a transposable element of the helitron class - maybe other causing mutations as well at this ebony locus (including one fixed amino acid change whose phenotypic effect has not been investigated) - increased expression associated with lighter pigmentation
Drosophila yakuba
(species)
Drosophila santomea
(species) D
ebony
Drosophila santomea
(species)
Published - Accepted by Curator
Ecdysone oxidase
Developmental time
Cis-regulatory,
Insertion
Bombyx mori
domestic silkworm - (species) D
Domesticated
Candidate Gene
Sun W; Shen YH; Han MJ ; et al. (2014)
An adaptive transposable element insertion in the regulatory region of the EO gene in the domesticat[...]
1 Additional References
GP00001102
Eo
Q9VY01
Physiology
insertion of a 512bp fragment of a Taguchi transposable element 462 bp upstream of the transcription start site of the EO gene. The TE insertion enhances the transcription of flanking genes after 20-hydroxyecdysone treatment.
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
Ecdysone oxidase
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
Ectodysplasin (EDA)
Dermal bone (loss of armor plates)
Cis-regulatory,
Unknown
Gasterosteus aculeatus
three-spined stickleback - (species) D
Interspecific
Linkage Mapping
Colosimo PF; Hosemann KE; Balabhadra S ; et al. (2005)
Widespread parallel evolution in sticklebacks by repeated fixation of Ectodysplasin alleles.
2 Additional References
GP00000254
Eda
O54693
Morphology
large haplotype- includes a T-> G regulatory change that affect expression based on differential responsiveness to Wnt signaling
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species) D
Ectodysplasin (EDA)
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
EDN3
Coloration
Cis-regulatory,
Unknown
Ambystoma mexicanum
axolotl - (species) D
Domesticated
Candidate Gene
Woodcock MR; Vaughn-Wolfe J; Elias A ; et al. (2017)
Identification of Mutant Genes and Introgressed Tiger Salamander DNA in the Laboratory Axolotl, Amby[...]
GP00002377
EDN3
P14138
Morphology
Ambystoma mexicanum
axolotl - (species)
Ambystoma mexicanum
axolotl - (species) D
EDN3
Ambystoma mexicanum
axolotl - (species)
Published - Accepted by Curator
edn3b
Coloration (reduced number of stripes)
Cis-regulatory,
Unknown
Danio nigrofasciatus
dwarf danio - (species)
Interspecific
Candidate Gene
Spiewak JE; Bain EJ; Liu J ; et al. (2018)
Evolution of Endothelin signaling and diversification of adult pigment pattern in Danio fishes.
GP00002124
edn3b
E9QFS0
Morphology
pigment pattern differences between these species are clearly polygenic, and it seems likely that additional loci, of the endothelin pathway or other pathways, will be identified as contributing to attenuated stripes and interstripes of D. nigrofasciatus compared to D. rerio.
Danio rerio
zebrafish - (species)
Danio nigrofasciatus
dwarf danio - (species)
edn3b
Danio nigrofasciatus
dwarf danio - (species)
Published - Accepted by Curator
EGNL1
High-altitude adaptation
Hypoxia response
Cis-regulatory,
Unknown
Anas cyanoptera
cinnamon teal - (species) D
Intraspecific
Candidate Gene
Graham AM; McCracken KG (2019)
Convergent evolution on the hypoxia-inducible factor (HIF) pathway genes EGLN1 and EPAS1 in high-alt[...]
GP00002134
EGLN1
Q9GZT9
Physiology
Physiology
probably cis-regulatory because no nonsynonymous mutations in the coding exon with high Fst
Anas cyanoptera
cinnamon teal - (species)
Anas cyanoptera
cinnamon teal - (species) D
EGNL1
Anas cyanoptera
cinnamon teal - (species)
Published - Accepted by Curator
Endothelin receptor B2
Coloration (feathers ; white-spotting)
Cis-regulatory,
Unknown
Anas platyrhynchos
mallard - (species) D
Domesticated
Association Mapping
Xi Y; Xu Q; Huang Q ; et al. (2021)
Genome-wide association analysis reveals that EDNRB2 causes a dose-dependent loss of pigmentation in[...]
GP00002383
EDNRB2
W8VUK4
Morphology
"The GWAS results identified a 198 kb (Chr4: 10,149,651 bp to 10,348,068 bp) genetic region that was significantly associated with the black spot phenotype. The conditional GWAS and linkage disequilibrium (LD) analysis further narrowed the ultimate candidate region to 167 kb (Chr4: 10,180,939 bp to 10,348,068 bp). A key gene regulating melanoblast migration and differentiation, EDNRB2 (Endothelin B receptor-like), was found in the candidate region and having significant mRNA expression level changes in embryonic duck skin tissue with different spot sizes. The significant SNPs (single nucleotide polymorphisms) associated with the EDNRB2 gene were annotated, and two mutations (Chr4: 10,180,939 T > C and Chr4: 10,190,671 A > T) were found to result in the loss of binding sites for two trans-factors, XBP1 and cMYB. The phenotypic effect of these two mutations suggested that they can regulate the size of black spots in a dose-dependent manner, and Chr4: 10,180,939 T > C was the major allele locus."
Anas platyrhynchos
mallard - (species)
Anas platyrhynchos
mallard - (species) D
Endothelin receptor B2
Anas platyrhynchos
mallard - (species)
Published - Accepted by Curator
engrailed
Coloration (wing ; Batesian mimicry)
Cis-regulatory,
Unknown
Papilio dardanus
African swallowtail butterfly - (species) D
Intraspecific
Linkage Mapping
Timmermans MJTN; Srivathsan A; Collins S ; et al. (2020)
Mimicry diversification in Papilio dardanus via a genomic inversion in the regulatory region of engr[...]
GP00002428
en
P02836
Morphology
Association with many nucleotide changes in a cis-regulatory region of engrailed. The diverged region exhibits a discrete chromosomal inversion of 40 kb relative to the ancestral orientation that is associated with the cenea morph, but not with the bottom-recessive hippocoonides morph or with non-mimetic allopatric populations.
Papilio dardanus
African swallowtail butterfly - (species)
Papilio dardanus
African swallowtail butterfly - (species) D
engrailed
Papilio dardanus
African swallowtail butterfly - (species)
Published - Accepted by Curator
Epithiospecifier Modifier1 (ESM1)
Nitrile content
Cis-regulatory,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Zhang Z; Ober JA; Kliebenstein DJ (2006)
The gene controlling the quantitative trait locus EPITHIOSPECIFIER MODIFIER1 alters glucosinolate hy[...]
GP00000277
ESM1
Q9LJG3
Physiology
Not identified
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Epithiospecifier Modifier1 (ESM1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Epithiospecifier protein (ESP)
Plant secondary metabolite (glucosinolate)
Herbivore resistance
Cis-regulatory,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Lambrix V; Reichelt M; Mitchell-Olds T ; et al. (2001)
The Arabidopsis epithiospecifier protein promotes the hydrolysis of glucosinolates to nitriles and i[...]
GP00000278
ESP
Q8RY71
Physiology
Physiology
Not identified
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Epithiospecifier protein (ESP)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
ESR1
Aggression behavior
Cis-regulatory,
Unknown
Zonotrichia albicollis
white-throated sparrow - (species) D
Intraspecific
Linkage Mapping
Merritt JR; Grogan KE; Zinzow-Kramer WM ; et al. (2020)
A supergene-linked estrogen receptor drives alternative phenotypes in a polymorphic songbird.
GP00002440
Esr1
P19785
Behavior
Increase in expression of the gene in the white-striped morph. Differential allelic expression in heterozygotes.
Zonotrichia albicollis
white-throated sparrow - (species)
Zonotrichia albicollis
white-throated sparrow - (species) D
ESR1
Zonotrichia albicollis
white-throated sparrow - (species)
Published - Accepted by Curator
eve
Developmental time
Cis-regulatory,
Deletion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Palsson A; Wesolowska N; Reynisdóttir S ; et al. (2014)
Naturally occurring deletions of hunchback binding sites in the even-skipped stripe 3+7 enhancer.
GP00001986
eve
P06602
Physiology
72bp deletion that removes one of the hb protein-binding sites in the stripe 3+7 enhancer of eve. The deletion also removes half of a putative slp1 protein-binding site.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
eve
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
exp-1
Aggregation behavior
Cis-regulatory,
Unknown
Caenorhabditis elegans
(species)
Intraspecific
Linkage Mapping
Bendesky A; Pitts J; Rockman MV ; et al. (2012)
Long-range regulatory polymorphisms affecting a GABA receptor constitute a quantitative trait locus [...]
GP00000300
exp-1
G5ECJ0
Behavior
unidentified; 6.2kb wide genetic interval 3' of the exp-1 gene
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species)
exp-1
Caenorhabditis elegans
(species)
Published - Accepted by Curator
FaO-methyl-transferase (FaOMT)
Fragrance (flavor)
Cis-regulatory,
Unknown
Fragaria x ananassa
strawberry - (species)
Domesticated
Linkage Mapping
Zorrilla-Fontanesi Y; Rambla JL; Cabeza A ; et al. (2012)
Genetic analysis of strawberry fruit aroma and identification of O-methyltransferase FaOMT as the lo[...]
GP00000303
omt1
Q9M602
Physiology
Promoter variation _ there are several single nucleotide polymorphisms (SNPs); insertion/deletions (indels); and rearrangements in the promoter
Fragaria x ananassa
strawberry - (species)
Fragaria x ananassa
strawberry - (species)
FaO-methyl-transferase (FaOMT)
Fragaria x ananassa
strawberry - (species)
Published - Accepted by Curator
fasciated
Fruit size
Fruit architecture
Cis-regulatory,
Unknown
Solanum lycopersicum
tomato - (species)
Domesticated
Linkage Mapping
Cong B; Barrero LS; Tanksley SD (2008)
Regulatory change in YABBY-like transcription factor led to evolution of extreme fruit size during t[...]
GP00000305
fasciated
B2YHV8
Morphology
Morphology
Possibly 7-bp and 6- to 8-kb insertion in the first intron
Solanum pennellii
(species)
Solanum lycopersicum
tomato - (species)
fasciated
Solanum lycopersicum
tomato - (species)
Published - Accepted by Curator
fatty acid synthase
Dessication tolerance
Pheromone production (mbCHC)
Cis-regulatory,
Unknown
Drosophila birchii
(species)
Interspecific
Candidate Gene
Chung H; Loehlin DW; Dufour HD ; et al. (2014)
A single gene affects both ecological divergence and mate choice in Drosophila.
GP00002063
FASN3
Q7PLB8
Physiology
Physiology
No expression of the gene in D. birchii. The coding region of the D. birchii gene is intact. Cis-regulatory region tested in reporter assays in D. melanogaster - exact causing mutation(s) unknown. RNAi against mFAS/CG17354 in D. serrata recapitylates the D. birchii phenotype.
Drosophila serrata
(species)
Drosophila birchii
(species)
fatty acid synthase
Drosophila birchii
(species)
Published - Accepted by Curator
Fezf2
Cerebral cortex layered organization
Cis-regulatory,
Complex Change
Mammalia
mammals - (class) D
Intergeneric or Higher
Candidate Gene
Shim S; Kwan KY; Li M ; et al. (2012)
Cis-regulatory control of corticospinal system development and evolution.
GP00000307
Fezf2
Q9ESP5
Morphology
Acquisition of SOX binding sites in enhancer E4
Amniota
amniotes - (no rank)
Mammalia
mammals - (class) D
Fezf2
Mammalia
mammals - (class)
Published - Accepted by Curator
FGFR2
Hair thickness
Cis-regulatory,
Unknown
Homo sapiens
human - (species)
Intraspecific
Candidate Gene
Fujimoto A; Nishida N; Kimura R ; et al. (2009)
FGFR2 is associated with hair thickness in Asian populations.
GP00000314
FGFR2
P21802
Morphology
Unknown
Homo sapiens
human - (species)
Homo sapiens
human - (species)
FGFR2
Homo sapiens
human - (species)
Published - Accepted by Curator
fiz
Body size
3 Mutations:
Cis-regulatory
SNP
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Glaser-Schmitt A; Parsch J (2018)
Functional characterization of adaptive variation within a cis-regulatory element influencing Drosop[...]
GP00002017
fiz
Q9VY04
Morphology
3 mutations
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
fiz
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Fkh
Silk yield
Cis-regulatory,
Unknown
Bombyx mori
domestic silkworm - (species) D
Domesticated
Association Mapping
Xia Q; Guo Y; Zhang Z ; et al. (2009)
Complete resequencing of 40 genomes reveals domestication events and genes in silkworm (Bombyx).
GP00002411
fkh
P14734
Physiology
Increased expression in high yield strains. The Fkh gene encodes a transcription factor that activates glue genes together with Sage in salivary glands of Drosophila melanogaster.
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
Fkh
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
flavonoid 3'-hydroxylase (F3'H)
Coloration (flowers)
Cis-regulatory,
Insertion
Glycine max
soybean - (species) D
Domesticated
Candidate Gene
Zabala G; Vodkin LO (2005)
The wp mutation of Glycine max carries a gene-fragment-rich transposon of the CACTA superfamily.
GP00000318
CYP75B1
Q9SD85
Morphology
Transposon insertion in intron 2
Glycine max
soybean - (species)
Glycine max
soybean - (species) D
flavonoid 3'-hydroxylase (F3'H)
Glycine max
soybean - (species)
Published - Accepted by Curator
flavonoid 3';5'-hydroxylase (F3'5'H)
Coloration (flowers)
Cis-regulatory,
Unknown
Phlox drummondii
(species)
Intraspecific
Linkage Mapping
Hopkins R; Rausher MD (2011)
Identification of two genes causing reinforcement in the Texas wildflower Phlox drummondii.
GP00000325
CYP75A2
P37120
Morphology
unknown
Phlox drummondii
(species)
Phlox drummondii
(species)
flavonoid 3';5'-hydroxylase (F3'5'H)
Phlox drummondii
(species)
Published - Accepted by Curator
flavonoid 3';5'-hydroxylase (F3'5'H)
Coloration (tuber skin)
Cis-regulatory,
Unknown
Solanum tuberosum
potato - (species)
Domesticated
Linkage Mapping
Jung CS; Griffiths HM; De Jong DM ; et al. (2005)
The potato P locus codes for flavonoid 3',5'-hydroxylase.
GP00000328
CYP75A2
P37120
Morphology
unknown
Solanum tuberosum
potato - (species)
Solanum tuberosum
potato - (species)
flavonoid 3';5'-hydroxylase (F3'5'H)
Solanum tuberosum
potato - (species)
Published - Accepted by Curator
FLC (Flowering Locus C)
Flowering time
2 Mutations:
Cis-regulatory
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Coustham V; Li P; Strange A ; et al. (2012)
Quantitative modulation of polycomb silencing underlies natural variation in vernalization.
1 Additional References
GP00000331
FLC
Q9S7Q7
Physiology
2 mutations
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
FLC (Flowering Locus C)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
FLC (Flowering Locus C)
Flowering time
Cis-regulatory,
Insertion
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Michaels SD; He Y; Scortecci KC ; et al. (2003)
Attenuation of FLOWERING LOCUS C activity as a mechanism for the evolution of summer-annual flowerin[...]
3 Additional References
GP00000332
FLC
Q9S7Q7
Physiology
TE insertion in intron 1; a region required for normal FLC regulation. The transposable element renders FLC-Ler subject to repressive chromatin modifications mediated by short interfering RNAs generated from homologous transposable elements in the genome.
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
FLC (Flowering Locus C)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
FLC (Flowering Locus C)
Flowering time
Cis-regulatory,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Michaels SD; He Y; Scortecci KC ; et al. (2003)
Attenuation of FLOWERING LOCUS C activity as a mechanism for the evolution of summer-annual flowerin[...]
1 Additional References
GP00000333
FLC
Q9S7Q7
Physiology
Not identified
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
FLC (Flowering Locus C)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
FLC (Flowering Locus C)
Flowering time
Cis-regulatory,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Werner JD; Borevitz JO; Uhlenhaut NH ; et al. (2005)
FRIGIDA-independent variation in flowering time of natural Arabidopsis thaliana accessions.
1 Additional References
GP00000334
FLC
Q9S7Q7
Physiology
unknown
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
FLC (Flowering Locus C)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
FLC (Flowering Locus C)
Flowering time
Cis-regulatory,
Deletion
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Sánchez-Bermejo E; Méndez-Vigo B; Picó FX ; et al. (2012)
Novel natural alleles at FLC and LVR loci account for enhanced vernalization responses in Arabidopsi[...]
1 Additional References
GP00000336
FLC
Q9S7Q7
Physiology
50bp deletion in 5'UTR
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
FLC (Flowering Locus C)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
FLC-2
Flowering time
Cis-regulatory,
Unknown
Brassica rapa
field mustard - (species)
Domesticated
Linkage Mapping
Zhao J; Kulkarni V; Liu N ; et al. (2010)
BrFLC2 (FLOWERING LOCUS C) as a candidate gene for a vernalization response QTL in Brassica rapa.
GP00000340
FLC
Q9S7Q7
Physiology
unknown
Brassica rapa
field mustard - (species)
Brassica rapa
field mustard - (species)
FLC-2
Brassica rapa
field mustard - (species)
Published - Accepted by Curator
Flowering locus T (=HvFT=VRN3)
Flowering time
Cis-regulatory,
Unknown
Hordeum vulgare
(species)
Domesticated
Linkage Mapping
Yan L; Fu D; Li C ; et al. (2006)
The wheat and barley vernalization gene VRN3 is an orthologue of FT.
GP00000343
FT
Q9SXZ2
Physiology
Regulatory variation in first intron
Hordeum vulgare
(species)
Hordeum vulgare
(species)
Flowering locus T (=HvFT=VRN3)
Hordeum vulgare
(species)
Published - Accepted by Curator
Flowering locus T (=TaFT=VRN3)
Flowering time
Cis-regulatory,
Insertion
Triticum aestivum
bread wheat - (species) D
Domesticated
Linkage Mapping
Yan L; Fu D; Li C ; et al. (2006)
The wheat and barley vernalization gene VRN3 is an orthologue of FT.
GP00000344
FT
Q9SXZ2
Physiology
Retrotranspostion in promoter region
Triticum aestivum
bread wheat - (species)
Triticum aestivum
bread wheat - (species) D
Flowering locus T (=TaFT=VRN3)
Triticum aestivum
bread wheat - (species)
Published - Accepted by Curator
Flowering locus T (FT)
Flowering time
Cis-regulatory,
Unknown
Arabidopsis thaliana
thale cress - (species)
Domesticated
Linkage Mapping
Kojima S; Takahashi Y; Kobayashi Y ; et al. (2002)
Hd3a, a rice ortholog of the Arabidopsis FT gene, promotes transition to flowering downstream of Hd1[...]
1 Additional References
GP00000345
FT
Q9SXZ2
Physiology
Promoter region
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Flowering locus T (FT)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Flowering locus T (LpFT3)
Flowering time
Cis-regulatory,
Unknown
Lolium perenne
(species)
Domesticated
Candidate Gene
Skøt L; Sanderson R; Thomas A ; et al. (2011)
Allelic variation in the perennial ryegrass FLOWERING LOCUS T gene is associated with changes in flo[...]
GP00000347
FT
Q9SXZ2
Physiology
unknown
Lolium perenne
(species)
Lolium perenne
(species)
Flowering locus T (LpFT3)
Lolium perenne
(species)
Published - Accepted by Curator
FMO2
Xenobiotic resistance (insecticide)
Cis-regulatory,
Insertion
Plutella xylostella
diamondback moth - (species) D
Intraspecific
Candidate Gene
Mallott M; Hamm S; Troczka BJ ; et al. (2019)
A flavin-dependent monooxgenase confers resistance to chlorantraniliprole in the diamondback moth, P[...]
GP00002065
FMO2
Q99518
Physiology
a putatative transposon (233bp) insertion in the HAW promoter sequence just 140 bp upstream of the start codon of PxFMO2 which was absent in the ROTH promoter, the boundaries of all copies of this element were found to be defined by 34 bp imperfect terminal inverted repeats, increase the expression of the gene PxFMO2 downstream
Plutella xylostella
diamondback moth - (species)
Plutella xylostella
diamondback moth - (species) D
FMO2
Plutella xylostella
diamondback moth - (species)
Published - Accepted by Curator
foraging
Food-search behavior
Cis-regulatory,
SNP
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Osborne KA; Robichon A; Burgess E ; et al. (1997)
Natural behavior polymorphism due to a cGMP-dependent protein kinase of Drosophila.
2 Additional References
GP00000350
for
Q03043
Behavior
The fors (sitter) and forR (rover) alleles differ in a SNP that lies within a predicted Mad protein-binding site in a region upstream of the pr4 transcription start site. The SNP is a C in fors and an A in forR (the latter is predicted to reduce Mad protein binding).
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
foraging
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
FOXL2
Horns absence
Somatic sex change
Cis-regulatory,
Deletion
Capra hircus
goat - (species) D
Domesticated
Linkage Mapping
Pailhoux E; Vigier B; Chaffaux S ; et al. (2001)
A 11.7-kb deletion triggers intersexuality and polledness in goats.
2 Additional References
GP00000352
FOXL2
Q8MIP2
Morphology
Physiology
11.7 kbp deletion of mainly repetitive sequences ; Alters transcription of two flanking genes; but FOXL2 in particular is proposed as the main determinant of the phenotype
Capra hircus
goat - (species)
Capra hircus
goat - (species) D
FOXL2
Capra hircus
goat - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Water use efficiency
Cis-regulatory,
Deletion
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Lovell JT; Juenger TE; Michaels SD ; et al. (2013)
Pleiotropy of FRIGIDA enhances the potential for multivariate adaptation.
GP00000375
FRI
P0DH90
Physiology
Physiology
376 bp deletion within the promoter of the TSU-1 FRI allele
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
FRIZZLED8
Neocortex development
Cis-regulatory,
Unknown
Homo sapiens
human - (species) D
Interspecific
Candidate Gene
Boyd JL; Skove SL; Rouanet JP ; et al. (2015)
Human-chimpanzee differences in a FZD8 enhancer alter cell-cycle dynamics in the developing neocorte[...]
GP00001443
FZD8
Q9H461
Morphology
10 mutations fixed on the human branch in the Hs-HARE5 genomic locus resulting in enhancer activity in developing neocortex
Pan troglodytes
chimpanzee - (species)
Homo sapiens
human - (species) D
FRIZZLED8
Homo sapiens
human - (species)
Published - Accepted by Curator
FRM2
Xenobiotic resistance (citrinin)
Cis-regulatory,
Unknown
Saccharomyces paradoxus
(species) D
Domesticated
Association Mapping
Naranjo S; Smith JD; Artieri CG ; et al. (2015)
Dissecting the Genetic Basis of a Complex cis-Regulatory Adaptation.
GP00001311
FRM2
P37261
Physiology
mutations within 1kb in promotor region
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces paradoxus
(species) D
FRM2
Saccharomyces paradoxus
(species)
Published - Accepted by Curator
FST/MOCS2
coloration (head feathers)
Cis-regulatory,
Unknown
Erythrura gouldiae
Gouldian finch - (species)
Intraspecific
Association Mapping
Toomey MB; Marques CI; Andrade P ; et al. (2018)
A non-coding region near Follistatin controls head colour polymorphism in the Gouldian finch.
1 Additional References
GP00002125
Morphology
candidate locus is a small (approx. 70 kb) non-coding region mapping to the Z chromosome near the FST and MOCS2
Erythrura gouldiae
Gouldian finch - (species)
Erythrura gouldiae
Gouldian finch - (species)
FST/MOCS2
Erythrura gouldiae
Gouldian finch - (species)
Published - Accepted by Curator
FTO
Body size (weight; variance)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Frayling TM; Timpson NJ; Weedon MN ; et al. (2007)
A common variant in the FTO gene is associated with body mass index and predisposes to childhood and[...]
4 Additional References
GP00000378
FTO
Q9C0B1
Morphology; Physiology
rs1421085 T-to-C single-nucleotide variant disrupts a conserved motif for the ARID5B repressor
Homo sapiens
human - (species)
Homo sapiens
human - (species)
FTO
Homo sapiens
human - (species)
Published - Accepted by Curator
FUMARASE 2
Plant metabolism (fumarate/malate ratio)
Plant growth (bio-mass production)
Cis-regulatory,
Indel
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Riewe D; Jeon HJ; Lisec J ; et al. (2016)
A naturally occurring promoter polymorphism of the Arabidopsis FUM2 gene causes expression variation[...]
1 Additional References
GP00001286
FUM2
Q9FI53
Physiology
Physiology
2068 bp in promotor region @position -395. AND 3833bp in promotor region @position -1107
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
FUMARASE 2
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
FW2.2
Fruit size
Cis-regulatory,
Unknown
Solanum lycopersicum
tomato - (species)
Domesticated
Linkage Mapping
Frary A; Nesbitt TC; Grandillo S ; et al. (2000)
fw2.2: a quantitative trait locus key to the evolution of tomato fruit size.
1 Additional References
GP00000383
ORFX
Q9LKV7
Morphology
Not identified
Lycopersicon
(subgenus)
Solanum lycopersicum
tomato - (species)
FW2.2
Solanum lycopersicum
tomato - (species)
Published - Accepted by Curator
GADD45G
Brain development
Cis-regulatory,
Deletion
Pan troglodytes
chimpanzee - (species) D
Interspecific
Association Mapping
McLean CY; Reno PL; Pollen AA ; et al. (2011)
Human-specific loss of regulatory DNA and the evolution of human-specific traits.
GP00000384
GADD45G
O95257
Morphology
Enhancer loss
Homo sapiens
human - (species)
Pan troglodytes
chimpanzee - (species) D
GADD45G
Pan troglodytes
chimpanzee - (species)
Published - Accepted by Curator
GAL1
Carbohydrate metabolism (galactose)
Cis-regulatory,
Complex Change
Saccharomyces cerevisiae
baker's yeast - (species)
Intergeneric or Higher
Candidate Gene
Hittinger CT; Carroll SB (2007)
Gene duplication and the adaptive evolution of a classic genetic switch.
GP00000385
GAL1
P09608
Physiology
Helical phasing of GAL4 elements in promoter region following duplication
Kluyveromyces lactis
(species)
Saccharomyces cerevisiae
baker's yeast - (species)
GAL1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
GAL1
Carbohydrate metabolism
Cis-regulatory,
Unknown
Saccharomyces cerevisiae
baker's yeast - (species) D
Interspecific
Candidate Gene
Roop JI; Chang KC; Brem RB (2016)
Polygenic evolution of a sugar specialization trade-off in yeast.
GP00001425
GAL1
P04385
Physiology
unknown
Saccharomyces bayanus
(species)
Saccharomyces cerevisiae
baker's yeast - (species) D
GAL1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
GAL10
Carbohydrate metabolism
Cis-regulatory,
Unknown
Saccharomyces cerevisiae
baker's yeast - (species) D
Interspecific
Candidate Gene
Roop JI; Chang KC; Brem RB (2016)
Polygenic evolution of a sugar specialization trade-off in yeast.
GP00001428
GAL10
P04397
Physiology
unknown
Saccharomyces bayanus
(species)
Saccharomyces cerevisiae
baker's yeast - (species) D
GAL10
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
GAL3
Carbohydrate metabolism
Cis-regulatory,
Unknown
Saccharomyces cerevisiae
baker's yeast - (species) D
Interspecific
Candidate Gene
Roop JI; Chang KC; Brem RB (2016)
Polygenic evolution of a sugar specialization trade-off in yeast.
GP00001426
GAL3
P13045
Physiology
unknown
Saccharomyces bayanus
(species)
Saccharomyces cerevisiae
baker's yeast - (species) D
GAL3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
GAL4
Carbohydrate metabolism
Cis-regulatory,
Unknown
Saccharomyces cerevisiae
baker's yeast - (species) D
Interspecific
Candidate Gene
Roop JI; Chang KC; Brem RB (2016)
Polygenic evolution of a sugar specialization trade-off in yeast.
GP00001427
GAL4
P04386
Physiology
unknown
Saccharomyces bayanus
(species)
Saccharomyces cerevisiae
baker's yeast - (species) D
GAL4
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
GATA-binding protein 2 (GATA2)
Hematopoiesis (blood basophil count)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017)
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]
GP00001610
GATA2
P23769
Physiology
G>A at the associated SNP. Another variant (rs6782812) in a pleiotropic myeloid enhancer near GATA2 reduced enhancer activity by 69%
Homo sapiens
human - (species)
Homo sapiens
human - (species)
GATA-binding protein 2 (GATA2)
Homo sapiens
human - (species)
Published - Accepted by Curator
GDF6
Dermal bone size (armor plates)
Cis-regulatory,
Unknown
Gasterosteus aculeatus
three-spined stickleback - (species) D
Intraspecific
Linkage Mapping
Indjeian VB; Kingman GA; Jones FC ; et al. (2016)
Evolving New Skeletal Traits by cis-Regulatory Changes in Bone Morphogenetic Proteins.
GP00000388
GDF6
Q6KF10
Morphology
gain of a flank enhancer activity involving a complex repeat region; 1.2kb L2 LINE insertion; 18 small indels and 89 SNPs - the LINE insertion is required but not sufficient, to produce increased flank expression
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species) D
GDF6
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
GDF6
Limb morphology (hindlimb;skeleton)
Cis-regulatory,
Deletion
Homininae
(subfamily) D
Intergeneric or Higher
Candidate Gene
Indjeian VB; Kingman GA; Jones FC ; et al. (2016)
Evolving New Skeletal Traits by cis-Regulatory Changes in Bone Morphogenetic Proteins.
GP00000389
GDF6
Q6KF10
Morphology
Loss of a limb specific enhancer, the deletion is 5.6 kb
Homo sapiens
human - (species)
Homininae
(subfamily) D
GDF6
Homininae
(subfamily)
Published - Accepted by Curator
GDF7
Feathers (loss)
Cis-regulatory,
Insertion
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Mou C; Pitel F; Gourichon D ; et al. (2011)
Cryptic patterning of avian skin confers a developmental facility for loss of neck feathering.
GP00002185
Gdf7
P43029
Morphology
a large insertion approximately 260kb downstream from the BMP12 gene (now known as GFD7) increasing the expression of this gene in embryonic skin
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
GDF7
Gallus gallus
chicken - (species)
Published - Accepted by Curator
glycerol-3-phosphate dehydrogenase (Gpdh)
Enzymatic activity
Cis-regulatory,
Unknown
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Bewley Glenn C (1981
)
Genetic control of the developmental program of L‐glycerol‐3‐phosphate dehydrogenase isozymes in Dro[...]
GP00001992
Gpdh
P13706
Physiology
Exact causal mutation(s) unknown.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
glycerol-3-phosphate dehydrogenase (Gpdh)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
glycerol-3-phosphate dehydrogenase (Gpdh)
Enzymatic activity
Cis-regulatory,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Wilanowski TM; Gibson JB; Symonds JE (1995)
Retrotransposon insertion induces an isozyme of sn-glycerol-3-phosphate dehydrogenase in Drosophila [...]
GP00001998
Gpdh
P13706
Physiology
insertion of a 8kb blood retrotransposon in the 3' region of the Gpdh gene 66bp downstream of the stop codon. This mutation induces a GPDH isozyme-GPDH-4-and alters the pattern of expression of the three normal isozymes-GPDH-1 to GPDH-3.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
glycerol-3-phosphate dehydrogenase (Gpdh)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Glypican-3 (Gpc3)
Body size (weight)
Cis-regulatory,
Unknown
Mus musculus
house mouse - (species)
Domesticated
Linkage Mapping
Oliver F; Christians JK; Liu X ; et al. (2005)
Regulatory variation at glypican-3 underlies a major growth QTL in mice.
GP00000407
Gpc3
Q8CFZ4
Physiology
unknown; possible 3'UTR variation
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species)
Glypican-3 (Gpc3)
Mus musculus
house mouse - (species)
Published - Accepted by Curator
goldentouch
Coloration
Cis-regulatory,
Insertion
Amphilophus citrinellus
Midas cichlid - (species)
Intraspecific
Association Mapping
Kratochwil CF; Kautt AF; Nater A ; et al. (2022)
An intronic transposon insertion associates with a trans-species color polymorphism in Midas cichlid[...]
GP00002362
Morphology
"Using a new haplotype-resolved long-read assembly we discover an 8.2 kb, transposon-derived inverted repeat in an intron of an undescribed gene, which we term goldentouch in reference to the Greek myth of King Midas. The gene goldentouch is differentially expressed between morphs, presumably due to structural implications of inverted repeats in both DNA and/or RNA (cruciform and hairpin formation). The near-perfect association of the insertion with the phenotype across independent populations suggests that it likely underlies this trans-specific, stable polymorphism."
Amphilophus citrinellus
Midas cichlid - (species)
Amphilophus citrinellus
Midas cichlid - (species)
goldentouch
Amphilophus citrinellus
Midas cichlid - (species)
Published - Accepted by Curator
GPR133
Body size (weight)
Cis-regulatory,
Unknown
Mus musculus
house mouse - (species)
Domesticated
Association Mapping
Chan YF; Jones FC; McConnell E ; et al. (2012)
Parallel selection mapping using artificially selected mice reveals body weight control loci.
GP00000411
ADGRD1
Q6QNK2
Physiology
unknown
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species)
GPR133
Mus musculus
house mouse - (species)
Published - Accepted by Curator
GPR22
Coloration (coat)
Cis-regulatory,
Insertion
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Batcher K; Varney S; Affolter VK ; et al. (2022)
An SNN retrocopy insertion upstream of GPR22 is associated with dark red coat color in Poodles.
GP00002389
GPR22
Q99680
Morphology
A SNNL1 retrocopy element is inserted within the intron of COG5 and 2.8kbp upstream of and in the same orientation as GPR22. It is likely disrupting regulation of the CPR22 gene, resulting in higher gene expression and atypical expression in the skin.
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
GPR22
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
GPX2
Xenobiotic resistance (citrinin)
Cis-regulatory,
Unknown
Saccharomyces paradoxus
(species) D
Interspecific
Association Mapping
Naranjo S; Smith JD; Artieri CG ; et al. (2015)
Dissecting the Genetic Basis of a Complex cis-Regulatory Adaptation.
GP00001310
GPX2
P38143
Physiology
mutations within 1kb in promotor region
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces paradoxus
(species) D
GPX2
Saccharomyces paradoxus
(species)
Published - Accepted by Curator
GRAIN INCOMPLETE FILLING 1
Grain weight
Cis-regulatory,
Unknown
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Wang E; Wang J; Zhu X ; et al. (2008)
Control of rice grain-filling and yield by a gene with a potential signature of domestication.
GP00000413
CIN2
Q0JDC5
Morphology
unknown
Oryza rufipogon
(species)
Oryza sativa
rice - (species)
GRAIN INCOMPLETE FILLING 1
Oryza sativa
rice - (species)
Published - Accepted by Curator
GRAMD3
Coloration (skin)
Cis-regulatory,
Unknown
Gallus gallus
chicken - (species)
Domesticated
Association Mapping
Xu J; Lin S; Gao X ; et al. (2017)
Mapping of Id locus for dermal shank melanin in a Chinese indigenous chicken breed.
GP00002391
GRAMD3
F1NDM3
Morphology
No coding mutation in GRAMD3. The expression of GRAMD3 gene in the dermis tissues of the shank was significantly (P = 0.010738 < 0.05) higher in 350-day-old Gushi chickens characterized by the dermal shank pigmentation than in one-day-old Gushi chickens. Variation in the flanking region of GRAMD3 probably leads to the abnormal expression of GRAMD3.
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
GRAMD3
Gallus gallus
chicken - (species)
Published - Accepted by Curator
grassy tillers1
Plant architecture (number of ears)
Cis-regulatory,
Unknown
Zea mays
(species)
Domesticated
Linkage Mapping
Wills DM; Whipple CJ; Takuno S ; et al. (2013)
From many, one: genetic control of prolificacy during maize domestication.
GP00000414
gt1
G1AQA5
Morphology
unknown but narrow 2.7kb interval
Zea mays
(species)
Zea mays
(species)
grassy tillers1
Zea mays
(species)
Published - Accepted by Curator
GS5
Grain size
Cis-regulatory,
Unknown
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Li Y; Fan C; Xing Y ; et al. (2011)
Natural variation in GS5 plays an important role in regulating grain size and yield in rice.
GP00000418
GS5
B8AYD6
Morphology
Promoter variation
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
GS5
Oryza sativa
rice - (species)
Published - Accepted by Curator
GW7
Grain shape
Grain quality
Cis-regulatory,
Unknown
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Wang S; Li S; Liu Q ; et al. (2015)
The OsSPL16-GW7 regulatory module determines grain shape and simultaneously improves rice yield and [...]
GP00001540
TON1A
Q9FQ25
Morphology
Physiology
18 SNPs and 9 indels observed in the promoter region and exon 1 and in particular an 11-bp deletion and 18-bp insertion near GTAC motifs which are normally binded by OsSPL16 repressor (reduced binding increasing transcription)
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
GW7
Oryza sativa
rice - (species)
Published - Accepted by Curator
HAO1
Fertility (egg production)
Bird head morphology (male comb)
Cis-regulatory,
Unknown
Gallus gallus
chicken - (species)
Domesticated
Linkage Mapping
Johnsson M; Gustafson I; Rubin CJ ; et al. (2012)
A sexual ornament in chickens is affected by pleiotropic alleles at HAO1 and BMP2, selected during d[...]
1 Additional References
GP00000437
HAO1
E1BRR7
Physiology
Morphology
unknown; but intergenic QTL peak with decomposed effects on expression of BMP2 and HAO1
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
HAO1
Gallus gallus
chicken - (species)
Published - Accepted by Curator
HAS2
Wrinkled skin (Shar-Pei dogs)
Cis-regulatory,
Unknown
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Akey JM; Ruhe AL; Akey DT ; et al. (2010)
Tracking footprints of artificial selection in the dog genome.
GP00000438
HAS2
J9PB16
Morphology
unknown
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
HAS2
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
HBS1L-MYB
Hematopoiesis (mean blood corpuscular hemoglobin)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017)
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]
GP00001607
HBS1L
Q9Y450
Physiology
T>C at the associated SNP. Variants in MEP/erythroid-specific elements are putative functional variants
Homo sapiens
human - (species)
Homo sapiens
human - (species)
HBS1L-MYB
Homo sapiens
human - (species)
Published - Accepted by Curator
HBS1L-MYB
Hematopoiesis (mean blood corpuscular hemoglobin)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017)
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]
GP00001608
HBS1L
Q9Y450
Physiology
A>G at the associated SNP. Variants in MEP/erythroid-specific elements are putative functional variants
Homo sapiens
human - (species)
Homo sapiens
human - (species)
HBS1L-MYB
Homo sapiens
human - (species)
Published - Accepted by Curator
HBS1L-MYB
Hematopoiesis (red blood cell count)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017)
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]
GP00001609
HBS1L
Q9Y450
Physiology
C>T at the associated SNP. Variants in MEP/erythroid-specific elements are putative functional variants
Homo sapiens
human - (species)
Homo sapiens
human - (species)
HBS1L-MYB
Homo sapiens
human - (species)
Published - Accepted by Curator
HEADING DATE 1
Flowering time (latitudinal adaptation)
Cis-regulatory,
Insertion
N
Oryza sativa Japonica Group
Japanese rice - (no rank) D
Domesticated
Candidate Gene
Goretti D; Martignago D; Landini M ; et al. (2017)
Transcriptional and Post-transcriptional Mechanisms Limit Heading Date 1 (Hd1) Function to Adapt Ric[...]
GP00001674
HD1
Q9FDX8
Physiology
Hd1(EH) allele with a 4.4 kb mobile element inserted at position -166pb that suppressed gene transcription N
Oryza sativa
rice - (species)
Oryza sativa Japonica Group
Japanese rice - (no rank) D
HEADING DATE 1
Oryza sativa Japonica Group
Japanese rice - (no rank)
Published - Accepted by Curator
heavy metal atpase4 (HMA4)
Metal tolerance
Cis-regulatory,
Unknown
Arabidopsis halleri
(species)
Interspecific
Linkage Mapping
Hanikenne M; Talke IN; Haydon MJ ; et al. (2008)
Evolution of metal hyperaccumulation required cis-regulatory changes and triplication of HMA4.
1 Additional References
GP00000449
HMA4
O64474
Physiology
unknown
Arabidopsis thaliana
thale cress - (species)
Arabidopsis halleri
(species)
heavy metal atpase4 (HMA4)
Arabidopsis halleri
(species)
Published - Accepted by Curator
herfst
Coloration (wing; seasonal)
Cis-regulatory,
Unknown
Junonia coenia
buckeye - (species) D
Experimental Evolution
Association Mapping
van der Burg KRL; Lewis JJ; Brack BJ ; et al. (2020)
Genomic architecture of a genetically assimilated seasonal color pattern.
GP00002422
rk
Q7KTA0
Morphology
No variation in coding region. Strong association with cis-regulatory SNP. CRISPR mutant clones for the herfst gene display light tan scales.
Junonia coenia
buckeye - (species)
Junonia coenia
buckeye - (species) D
herfst
Junonia coenia
buckeye - (species)
Published - Accepted by Curator
HLA-DQA1
Histocompatibility
Cis-regulatory,
Unknown
Papio
baboons - (genus)
Intraspecific
Candidate Gene
Loisel DA; Rockman MV; Wray GA ; et al. (2006)
Ancient polymorphism and functional variation in the primate MHC-DQA1 5' cis-regulatory region.
GP00000478
HLA-DQA1
P01909
Physiology
Promoter variation
Papio
baboons - (genus)
Papio
baboons - (genus)
HLA-DQA1
Papio
baboons - (genus)
Published - Accepted by Curator
HMX1
Organ size (ear; cropped)
Cis-regulatory,
Insertion
Bos taurus
cattle - (species) D
Domesticated
Association Mapping
Koch CT; Bruggmann R; Tetens J ; et al. (2013)
A non-coding genomic duplication at the HMX1 locus is associated with crop ears in highland cattle.
GP00002191
HMX1
Q9NP08
Morphology
76bp duplication in an ultra-conserved enhancer located 148 kb apart of the coding region of HMX1
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
HMX1
Bos taurus
cattle - (species)
Published - Accepted by Curator
Hooded
Flower morphology
Cis-regulatory,
Insertion
Hordeum vulgare
(species) D
Domesticated
Linkage Mapping
Müller KJ; Romano N; Gerstner O ; et al. (1995)
The barley Hooded mutation caused by a duplication in a homeobox gene intron.
GP00000488
KNOX3
Q43484
Morphology
305bp duplication in intron 4
Hordeum vulgare
(species)
Hordeum vulgare
(species) D
Hooded
Hordeum vulgare
(species)
Published - Accepted by Curator
Hoxb8
Feather (bird face)
Cis-regulatory,
Insertion
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Guo Y; Gu X; Sheng Z ; et al. (2016)
A Complex Structural Variation on Chromosome 27 Leads to the Ectopic Expression of HOXB8 and the Muf[...]
GP00002193
Hoxb8
P09632
Morphology
Complex Structural Variation with 3 CNVs including a 14.8kb copy of hoxb7 + hoxb8 ; results in ectopic (unrepressed) expression of hoxb8 in feathers especially in the facial region
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
Hoxb8
Gallus gallus
chicken - (species)
Published - Accepted by Curator
HOXC8 - uncertain
Feathers (crest morphology)
Cis-regulatory,
Unknown
Gallus gallus
chicken - (species)
Domesticated
Association Mapping
Wang Y; Gao Y; Imsland F ; et al. (2012)
The crest phenotype in chicken is associated with ectopic expression of HOXC8 in cranial skin.
GP00000489
HOXC8
Q9YH13
Morphology
unknown
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species)
HOXC8 - uncertain
Gallus gallus
chicken - (species)
Published - Accepted by Curator
hsp70Ba
Temperature tolerance
Cis-regulatory,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Lerman DN; Michalak P; Helin AB ; et al. (2003)
Modification of heat-shock gene expression in Drosophila melanogaster populations via transposable e[...]
GP00002004
Hsp70Ba
Q8INI8
Physiology
A 1447 bp fragment corresponding to the 39 end of a jockey element is inserted 107 bps upstream of the hsp70Ba transcription start site in the T strain. The insertion intervenes between HSEs 2 and 3; displacing HSEs 3 and 4 as well as three GAGA elements.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
hsp70Ba
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
hsp70Ba
Temperature tolerance
Cis-regulatory,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Lerman DN; Michalak P; Helin AB ; et al. (2003)
Modification of heat-shock gene expression in Drosophila melanogaster populations via transposable e[...]
GP00002005
Hsp70Ba
Q8INI8
Physiology
Insertion of a 1222bp non-autonomous P-element at position -184 relative to the Hsp70Ba transcription start site. The P-element intervenes between the second and third heat shock response elements (HSEs).
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
hsp70Ba
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
hsp70Ba
Temperature tolerance
Cis-regulatory,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Lerman DN; Michalak P; Helin AB ; et al. (2003)
Modification of heat-shock gene expression in Drosophila melanogaster populations via transposable e[...]
GP00002006
Hsp70Ba
Q8INI8
Physiology
A non-autonomous 1383bp P-element is inserted 97bp upstream of the Hsp70Ba transcription start site. The P-element intervenes between the second and third heat shock response elements (HSEs).
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
hsp70Ba
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
IGF2BP1
Body size (weight)
Cis-regulatory,
Unknown
Anas platyrhynchos
mallard - (species) D
Domesticated
Linkage Mapping
Zhou Z; Li M; Cheng H ; et al. (2018)
An intercross population study reveals genes associated with body size and plumage color in ducks.
GP00002128
IGF2BP1
O42254
Morphology
We found that the phenotypic values of body size related traits together with IGF2BP1 expression levels were successfully fine-mapped of the causal variation in an ~100-kb region (chr28: 4,413,785-4,513,671) located on the 148 kb upstream of the IGF2BP1 gene
Anas platyrhynchos
mallard - (species)
Anas platyrhynchos
mallard - (species) D
IGF2BP1
Anas platyrhynchos
mallard - (species)
Published - Accepted by Curator
IIL1
Plant growth (pleiotropic growth abnormalities)
Cis-regulatory,
Insertion
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Sureshkumar S; Todesco M; Schneeberger K ; et al. (2009)
A genetic defect caused by a triplet repeat expansion in Arabidopsis thaliana.
1 Additional References
GP00001229
IIL1
Q94AR8
Morphology
expansion of a GAA/TTC trinucleotide repeat in the third intron
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
IIL1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
IL4
Immune response
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Linkage Mapping
Rockman MV; Hahn MW; Soranzo N ; et al. (2003)
Positive selection on a human-specific transcription factor binding site regulating IL4 expression.
GP00000497
IL4
P05112
Physiology
_524T promoter single base-pair substitution affecting binding of the NFAT transcription factor
Homo sapiens
human - (species)
Homo sapiens
human - (species)
IL4
Homo sapiens
human - (species)
Published - Accepted by Curator
Immune deficiency
Pathogen resistance
Cis-regulatory,
Unknown
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Candidate Gene
Lazzaro BP; Sceurman BK; Clark AG (2004)
Genetic basis of natural variation in D. melanogaster antibacterial immunity.
GP00000499
imd
Q9NHG0
Physiology
unknown
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
Immune deficiency
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Insulin-like growth factor 1 (IGF1)
Body size
Cis-regulatory,
Unknown
Canis lupus familiaris
dog - (subspecies)
Domesticated
Association Mapping
Sutter NB; Bustamante CD; Chase K ; et al. (2007)
A single IGF1 allele is a major determinant of small size in dogs.
1 Additional References
GP00000501
Igf1
P05017
Morphology
Not identified / several haplotypes
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies)
Insulin-like growth factor 1 (IGF1)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Insulin-like growth factor 2 (IGF2)
Muscular mass
Fat deposition
Heart size
Cis-regulatory,
SNP
Sus scrofa domesticus
domestic pig - (subspecies)
Domesticated
Linkage Mapping
Van Laere AS; Nguyen M; Braunschweig M ; et al. (2003)
A regulatory mutation in IGF2 causes a major QTL effect on muscle growth in the pig.
GP00000502
Igf2
P09535
Morphology
Physiology
Morphology
1bp change
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies)
Insulin-like growth factor 2 (IGF2)
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
interleukin-4
Immune response
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Interspecific
Candidate Gene
Rockman MV; Hahn MW; Soranzo N ; et al. (2003)
Positive selection on a human-specific transcription factor binding site regulating IL4 expression.
GP00000504
IL4R
P24394
Physiology
1bp substitution in promoter
Primates
(order)
Homo sapiens
human - (species)
interleukin-4
Homo sapiens
human - (species)
Published - Accepted by Curator
IRF2BP2
Hair type (woolly)
Cis-regulatory,
Insertion
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Demars J; Cano M; Drouilhet L ; et al. (2017)
Genome-Wide Identification of the Mutation Underlying Fleece Variation and Discriminating Ancestral [...]
GP00002195
IRF2BP2
Q7Z5L9
Morphology
insertion of an antisense EIF2S2 retrogene (asEIF2S2) into the 3′ UTR of the IRF2BP2 gene ; RNA-RNA hybrid creates a long endogenous double-stranded RNA which alters the expression of both EIF2S2 and IRF2BP2 mRNA
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
IRF2BP2
Ovis aries
sheep - (species)
Published - Accepted by Curator
IRF4
Coloration (skin)
Cis-regulatory,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Praetorius C; Grill C; Stacey SN ; et al. (2013)
A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway[...]
1 Additional References
GP00001364
IRF4
Q15306
Morphology
a C>T substitution in intron4 located within an enhancer
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
IRF4
Homo sapiens
human - (species)
Published - Accepted by Curator
Jheh1-Jheh2-Jheh3 complex
Oxidative stress resistance
Cis-regulatory,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Association Mapping
González J; Macpherson JM; Petrov DA (2009)
A recent adaptive transposable element insertion near highly conserved developmental loci in Drosoph[...]
1 Additional References
GP00001782
JHEH
Q6U6J0
Physiology
insertion of a transposable element Bari-Jheh associated with downregulation of Juvenile hormone epoxy hydroxylase 2 (Jheh2) and Jheh3 in nonstress conditions and with upregulation of Jheh1 and Jheh2 and downregulation of Jheh3 under oxidative stress conditions
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Jheh1-Jheh2-Jheh3 complex
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Cis-regulatory,
Insertion
Felis catus
domestic cat - (species) D
Domesticated
Association Mapping
David VA; Menotti-Raymond M; Wallace AC ; et al. (2014)
Endogenous retrovirus insertion in the KIT oncogene determines white and white spotting in domestic [...]
GP00000517
Kit
P05532
Morphology
full-length (7125 bp) FERV1 endogenous retrovirus insertion in intron
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
Kit (type III receptor protein-tyrosine kinase)
Felis catus
domestic cat - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Cis-regulatory,
Deletion
Felis catus
domestic cat - (species) D
Domesticated
Association Mapping
David VA; Menotti-Raymond M; Wallace AC ; et al. (2014)
Endogenous retrovirus insertion in the KIT oncogene determines white and white spotting in domestic [...]
GP00000519
Kit
P05532
Morphology
Excision of the full-length FERV1 elevement leaving the two LTR residues
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
Kit (type III receptor protein-tyrosine kinase)
Felis catus
domestic cat - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Cis-regulatory,
Deletion
Vulpes vulpes
red fox - (species) D
Domesticated
Linkage Mapping
Johnson JL; Kozysa A; Kharlamova AV ; et al. (2015)
Platinum coat color in red fox (Vulpes vulpes) is caused by a mutation in an autosomal copy of KIT.
GP00000521
Kit
P05532
Morphology
splice mutation; G to A substitution in the first nucleotide of intron 17; leads to skipping of exon 17.
Vulpes vulpes
red fox - (species)
Vulpes vulpes
red fox - (species) D
Kit (type III receptor protein-tyrosine kinase)
Vulpes vulpes
red fox - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Cis-regulatory,
Insertion
Sus scrofa domesticus
domestic pig - (subspecies) D
Domesticated
Candidate Gene
Rubin CJ; Megens HJ; Martinez Barrio A ; et al. (2012)
Strong signatures of selection in the domestic pig genome.
1 Additional References
GP00001326
Kit
P05532
Morphology
4.3kb duplication (DUP2) located about 100 kb upstream of KIT
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies) D
Kit (type III receptor protein-tyrosine kinase)
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Cis-regulatory,
Insertion
Sus scrofa domesticus
domestic pig - (subspecies) D
Domesticated
Candidate Gene
Rubin CJ; Megens HJ; Martinez Barrio A ; et al. (2012)
Strong signatures of selection in the domestic pig genome.
1 Additional References
GP00002196
Kit
P05532
Morphology
the patch allele comprises a 450kb duplication that includes KIT (roughly in the middle)
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies) D
Kit (type III receptor protein-tyrosine kinase)
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Cis-regulatory,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Holl HM; Brooks SA; Carpenter ML ; et al. (2017)
A novel splice mutation within equine KIT and the W15 allele in the homozygous state lead to all whi[...]
GP00002217
Kit
P05532
Morphology
c.756+1G>C (putative splicing mutation)
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Cis-regulatory,
Deletion
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Capomaccio S; Milanesi M; Nocelli C ; et al. (2017)
Splicing site disruption in the KIT gene as strong candidate for white dominant phenotype in an Ital[...]
GP00002218
Kit
P05532
Morphology
g.77736559C>T (putative splicing mutation)
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Kit (type III receptor protein-tyrosine kinase)
Equus caballus
horse - (species)
Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)
Coloration (coat)
Cis-regulatory,
Deletion
Sus scrofa domesticus
domestic pig - (subspecies) D
Domesticated
Linkage Mapping
Lim HT; Zhong T; Cho IC ; et al. (2011)
Novel alternative splicing by exon skipping in KIT associated with whole-body roan in an intercrosse[...]
1 Additional References
GP00002227
Kit
P05532
Morphology
U(26) repeat in intron 5 of the KIT gene with a single G interruption likely to mediate skipping of exon 5 of the gene in some tissues including skin ; the WT allele has an U(27) repeat interrupted by 5 G
Sus scrofa domesticus
domestic pig - (subspecies)
Sus scrofa domesticus
domestic pig - (subspecies) D
Kit (type III receptor protein-tyrosine kinase)
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
Kit ligand
Coloration (coat)
Cis-regulatory,
Unknown
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Miller CT; Beleza S; Pollen AA ; et al. (2007)
cis-Regulatory changes in Kit ligand expression and parallel evolution of pigmentation in sticklebac[...]
1 Additional References
GP00000522
KITLG
P21583
Morphology
unknown
Homo sapiens
human - (species)
Homo sapiens
human - (species)
Kit ligand
Homo sapiens
human - (species)
Published - Accepted by Curator
Kit ligand
Coloration (gills; ventrum)
Cis-regulatory,
Unknown
Gasterosteus aculeatus
three-spined stickleback - (species)
Intraspecific
Linkage Mapping
Miller CT; Beleza S; Pollen AA ; et al. (2007)
cis-Regulatory changes in Kit ligand expression and parallel evolution of pigmentation in sticklebac[...]
GP00000523
KITLG
P21583
Morphology
Not identified
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species)
Kit ligand
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
Kit ligand
Coloration (hair)
Cis-regulatory,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Guenther CA; Tasic B; Luo L ; et al. (2014)
A molecular basis for classic blond hair color in Europeans.
GP00001349
KITLG
P21583
Morphology
A>G SNP(rs12821256) 350kb upstream of transcription start
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
Kit ligand
Homo sapiens
human - (species)
Published - Accepted by Curator
KUK
Root development
2 Mutations:
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Association Mapping
Meijón M; Satbhai SB; Tsuchimatsu T ; et al. (2014)
Genome-wide association study using cellular traits identifies a new regulator of root development i[...]
GP00001233
At1g60370
O80758
Morphology
2 mutations
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
KUK
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
lactase (LCT)
Lactose tolerance (adult)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Linkage Mapping
Enattah NS; Sahi T; Savilahti E ; et al. (2002)
Identification of a variant associated with adult-type hypolactasia.
1 Additional References
GP00000529
LCT
P09848
Physiology
C-13910T
Homo sapiens
human - (species)
Homo sapiens
human - (species)
lactase (LCT)
Homo sapiens
human - (species)
Published - Accepted by Curator
lactase (LCT)
Lactose tolerance (adult)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Tishkoff SA; Reed FA; Ranciaro A ; et al. (2007)
Convergent adaptation of human lactase persistence in Africa and Europe.
GP00000530
LCT
P09848
Physiology
C-13907G
Homo sapiens
human - (species)
Homo sapiens
human - (species)
lactase (LCT)
Homo sapiens
human - (species)
Published - Accepted by Curator
lactase (LCT)
Lactose tolerance (adult)
Cis-regulatory,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Tishkoff SA; Reed FA; Ranciaro A ; et al. (2007)
Convergent adaptation of human lactase persistence in Africa and Europe.
GP00000531
LCT
P09848
Physiology
T-13915G
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
lactase (LCT)
Homo sapiens
human - (species)
Published - Accepted by Curator
lactase (LCT)
Lactose tolerance (adult)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Tishkoff SA; Reed FA; Ranciaro A ; et al. (2007)
Convergent adaptation of human lactase persistence in Africa and Europe.
1 Additional References
GP00000532
LCT
P09848
Physiology
G14010C ; In Khoe Pastoralist group lactase persistence (LP)-regulatory region 2 SNPs with greatest frequencies 13910C>T and 14010G>C
Homo sapiens
human - (species)
Homo sapiens
human - (species)
lactase (LCT)
Homo sapiens
human - (species)
Published - Accepted by Curator
lactase (LCT)
Lactose tolerance (adult)
Cis-regulatory,
SNP
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Jones BL; Raga TO; Liebert A ; et al. (2013)
Diversity of lactase persistence alleles in Ethiopia: signature of a soft selective sweep.
1 Additional References
GP00001714
LCT
P09848
Physiology
T14009G (rs869051967) (ss 820486563)
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
lactase (LCT)
Homo sapiens
human - (species)
Published - Accepted by Curator
lactate dehydrogenase-B (Ldh-B)
Stress response
Cis-regulatory,
Unknown
Fundulus heteroclitus
mummichog - (species)
Intraspecific
Linkage Mapping
Schulte PM; Glemet HC; Fiebig AA ; et al. (2000)
Adaptive variation in lactate dehydrogenase-B gene expression: role of a stress-responsive regulator[...]
GP00000533
ldhb
P20373
Physiology
unknown - candidate 1 bp change in southern populatin generates mammary tumor virus glucocorticoid responsive element
Fundulus heteroclitus
mummichog - (species)
Fundulus heteroclitus
mummichog - (species)
lactate dehydrogenase-B (Ldh-B)
Fundulus heteroclitus
mummichog - (species)
Published - Accepted by Curator
Latexin (Lxn)
Stem cell number (hematopoietic precursors)
Cis-regulatory,
Unknown
Mus musculus
house mouse - (species)
Intraspecific
Linkage Mapping
Liang Y; Jansen M; Aronow B ; et al. (2007)
The quantitative trait gene latexin influences the size of the hematopoietic stem cell population in[...]
GP00000534
Lxn
P70202
Morphology
Not identified
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species)
Latexin (Lxn)
Mus musculus
house mouse - (species)
Published - Accepted by Curator
Lectin-24A
Pathogen resistance (parasitic wasp)
Cis-regulatory,
Deletion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Arunkumar Ramesh; Zhou Shuyu Olivia; Day Jonathan P ; et al. (2022
)
Recurrent loss of an immunity gene that protects Drosophila against a major natural parasite
GP00002655
lectin-24A
Q9VQU4
Physiology
A cis-regulatory polymorphism in the gene Lectin-24A abolishes expression after infection and strongly reduces survival. 21bp indel (c.-171_-151del)
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Lectin-24A
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
LeSPL-CNR
Fruit ripening
Cis-regulatory,
Epigenetic Change
Solanum lycopersicum
tomato - (species) D
Domesticated
Linkage Mapping
Manning K; Tör M; Poole M ; et al. (2006)
A naturally occurring epigenetic mutation in a gene encoding an SBP-box transcription factor inhibit[...]
GP00000539
101256245
Q0PY35
Physiology
Stable methylation in a 286bp region of the promoter
Solanum cheesmaniae
(species)
Solanum lycopersicum
tomato - (species) D
LeSPL-CNR
Solanum lycopersicum
tomato - (species)
Published - Accepted by Curator
LIGHT AREAS1 (LAR1)
Coloration (flowers)
Cis-regulatory,
Unknown
Erythranthe lewisii
(species)
Interspecific
Linkage Mapping
Yuan YW; Rebocho AB; Sagawa JM ; et al. (2016)
Competition between anthocyanin and flavonol biosynthesis produces spatial pattern variation of flor[...]
GP00000543
LAR1
A0A0S2T0F2
Morphology
unknown
Erythranthe lewisii
(species)
Erythranthe lewisii
(species)
LIGHT AREAS1 (LAR1)
Erythranthe lewisii
(species)
Published - Accepted by Curator
lin-48
Excretory duct position
4 Mutations:
Cis-regulatory
Unknown
Caenorhabditis elegans
(species) D
Interspecific
Candidate Gene
Wang X; Chamberlin HM (2002)
Multiple regulatory changes contribute to the evolution of the Caenorhabditis lin-48 ovo gene.
1 Additional References
GP00000544
lin-48
G5EDU6
Morphology
4 mutations
Caenorhabditis briggsae
(species)
Caenorhabditis remanei
(species)
Caenorhabditis japonica
(species)
Caenorhabditis elegans
(species) D
lin-48
Caenorhabditis elegans
(species)
Published - Accepted by Curator
LPAR1
Hematopoiesis (blood monocyte count)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Guo MH; Nandakumar SK; Ulirsch JC ; et al. (2017)
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mech[...]
GP00001612
LPAR1
Q92633
Physiology
A>G at the associated SNP. 2 variants located in an uncharacterized long noncoding RNA
Homo sapiens
human - (species)
Homo sapiens
human - (species)
LPAR1
Homo sapiens
human - (species)
Published - Accepted by Curator
MADS AFFECTING FLOWERING 2 (MAF2)
Flowering time
Cis-regulatory,
Insertion
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Rosloski SM; Jali SS; Balasubramanian S ; et al. (2010)
Natural diversity in flowering responses of Arabidopsis thaliana caused by variation in a tandem gen[...]
GP00000561
MAF2
Q84J38
Physiology
Insertion alleles - several
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
MADS AFFECTING FLOWERING 2 (MAF2)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
MaMyb2
Coloration (flowers)
Cis-regulatory,
Unknown
Diplacus aurantiacus
(species)
Intraspecific
Linkage Mapping
Streisfeld MA; Young WN; Sobel JM (2013)
Divergent selection drives genetic differentiation in an R2R3-MYB transcription factor that contribu[...]
GP00000563
Myb2
M9QXG2
Morphology
unknown expression-phenotype co-vary
Diplacus aurantiacus
(species)
Diplacus aurantiacus
(species)
MaMyb2
Diplacus aurantiacus
(species)
Published - Accepted by Curator
MATE1/AltSB/SbMATE
Metal tolerance
Cis-regulatory,
Unknown
Sorghum bicolor
sorghum - (species)
Domesticated
Linkage Mapping
Magalhaes JV; Liu J; Guimarães CT ; et al. (2007)
A gene in the multidrug and toxic compound extrusion (MATE) family confers aluminum tolerance in sor[...]
GP00000565
Physiology
unknown
Sorghum bicolor
sorghum - (species)
Sorghum bicolor
sorghum - (species)
MATE1/AltSB/SbMATE
Sorghum bicolor
sorghum - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Cis-regulatory,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Dürig N; Letko A; Lepori V ; et al. (2018)
Two MC1R loss-of-function alleles in cream-coloured Australian Cattle Dogs and white Huskies.
GP00002302
MC1R
Q01726
Morphology
single nucleotide variant within the MITF binding site of the canine MC1R promoter
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
MC1R
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
MdMYB10
Coloration (fruit flesh; foliage)
Cis-regulatory,
Unknown
Malus domestica
apple - (species)
Domesticated
Linkage Mapping
Chagné D; Carlisle CM; Blond C ; et al. (2007)
Mapping a candidate gene (MdMYB10) for red flesh and foliage colour in apple.
1 Additional References
GP00000639
MYB1
A0SQ35
Morphology
unknown
Malus domestica
apple - (species)
Malus domestica
apple - (species)
MdMYB10
Malus domestica
apple - (species)
Published - Accepted by Curator
MdMYB110a
Coloration (fruit flesh)
Cis-regulatory,
Unknown
Malus domestica
apple - (species)
Domesticated
Linkage Mapping
Chagné D; Lin-Wang K; Espley RV ; et al. (2013)
An ancient duplication of apple MYB transcription factors is responsible for novel red fruit-flesh p[...]
GP00000640
K4FA06
Morphology
unknown
Malus domestica
apple - (species)
Malus domestica
apple - (species)
MdMYB110a
Malus domestica
apple - (species)
Published - Accepted by Curator
metallothionein (MtnA)
Oxidative stress resistance
Cis-regulatory,
Deletion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Association Mapping
Catalán A; Glaser-Schmitt A; Argyridou E ; et al. (2016)
An Indel Polymorphism in the MtnA 3' Untranslated Region Is Associated with Gene Expression Variatio[...]
GP00002018
MtnA
P04357
Physiology
49bp deletion in the MtnA 3'UTR
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
metallothionein (MtnA)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
MFSD12
Coloration (skin)
Cis-regulatory,
Complex Change
N
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Crawford NG; Kelly DE; Hansen MEB ; et al. (2017)
Loci associated with skin pigmentation identified in African populations.
GP00002246
MFSD12
Q6NUT3
Morphology
eight potentially causal SNPs cluster in two regions: one within MFSD12 (intronic SNP and synonymous SNP in exon 9) and the other ~7600 to 9000 base pairs (bp) upstream of MFSD12 ; many SNPs are in predicted regulatory regions active in melanocytes and/or keratinocytes show enhancer activity in luciferase expression assays N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
MFSD12
Homo sapiens
human - (species)
Published - Accepted by Curator
MGAM
Starch processing
Cis-regulatory,
Unknown
Canis lupus familiaris
dog - (subspecies)
Domesticated
Association Mapping
Axelsson E; Ratnakumar A; Arendt ML ; et al. (2013)
The genomic signature of dog domestication reveals adaptation to a starch-rich diet.
GP00000654
MGAM
O43451
Physiology
unknown
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies)
MGAM
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Microphtalmia-associated transcription factor
Coloration (coat)
Cis-regulatory,
Deletion
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Karlsson EK; Baranowska I; Wade CM ; et al. (2007)
Efficient mapping of mendelian traits in dogs through genome-wide association.
1 Additional References
GP00000657
Mitf
Q08874
Morphology
g.21836232_21836427ins>del - this SINE-insertion variant is the first of three possible regulatory variants described by Karlsson et al. (2007). Its genomic location and description were kindly provided by Professor Claire Wade in August 2018. OMIA 000214-9615
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
Microphtalmia-associated transcription factor
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Microphtalmia-associated transcription factor
Coloration (coat)
Cis-regulatory,
Insertion
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Hauswirth R; Haase B; Blatter M ; et al. (2012)
Mutations in MITF and PAX3 cause "splashed white" and other white spotting phenotypes in horses.
GP00000658
Mitf
Q08874
Morphology
11bp insertion in melanocyte-specific promoter; disrupting PAX3 binding site
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Microphtalmia-associated transcription factor
Equus caballus
horse - (species)
Published - Accepted by Curator
Microphtalmia-associated transcription factor
Coloration (feathers)
Cis-regulatory,
Insertion
Anas platyrhynchos
mallard - (species) D
Domesticated
Linkage Mapping
Zhou Z; Li M; Cheng H ; et al. (2018)
An intercross population study reveals genes associated with body size and plumage color in ducks.
GP00002127
Mitf
Q08874
Morphology
6.6kb insertion between exon 1M and exon 2, leads to lower expression of isoform MITF M in pekin white ducks
Anas platyrhynchos
mallard - (species)
Anas platyrhynchos
mallard - (species) D
Microphtalmia-associated transcription factor
Anas platyrhynchos
mallard - (species)
Published - Accepted by Curator
Microphtalmia-associated transcription factor a (MITFA)
Coloration (amelanism)
Cis-regulatory,
Deletion
Betta splendens
Siamese fighting fish - (species) D
Domesticated
Linkage Mapping
Wang L; Sun F; Wan ZY ; et al. (2021)
Genomic Basis of Striking Fin Shapes and Colors in the Fighting Fish.
GP00002379
Q6P0E9NULL
Morphology
"Comparison between homozygous albino and wild-type pigmented fish revealed a cluster of indels and SNPs about 25 kb upstream of mitfa, including a 366-bp deletion in the albino mutant. Genotyping this deletion in ∼1,000 fish revealed that this deletion was strictly correlated with the albino phenotype (supplementary fig. S14 and table S9, Supplementary Material online). These data suggest that the 366-bp deletion is a distant cis-regulatory element and could underlie the albino phenotype."
Betta splendens
Siamese fighting fish - (species)
Betta splendens
Siamese fighting fish - (species) D
Microphtalmia-associated transcription factor a (MITFA)
Betta splendens
Siamese fighting fish - (species)
Published - Accepted by Curator
miR-15a-16
Body size (weight)
Cis-regulatory,
Insertion
N
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Jia X; Lin H; Nie Q ; et al. (2016)
A short insertion mutation disrupts genesis of miR-16 and causes increased body weight in domesticat[...]
GP00002247
Morphology
54-bp insertion introducing splicing site that affect the mature transcript N
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
miR-15a-16
Gallus gallus
chicken - (species)
Published - Accepted by Curator
mir-92a
Trichome pattern (leg)
Cis-regulatory,
Unknown
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Arif S; Murat S; Almudi I ; et al. (2013)
Evolution of mir-92a underlies natural morphological variation in Drosophila melanogaster.
GP00000661
Morphology
Not identified
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
mir-92a
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Molybdenum transporter1 (MOT1)
Metal tolerance
Cis-regulatory,
Deletion
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Baxter I; Muthukumar B; Park HC ; et al. (2008)
Variation in molybdenum content across broadly distributed populations of Arabidopsis thaliana is co[...]
1 Additional References
GP00000676
MOT1
Q9SL95
Physiology
53bp deletion in promoter
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Molybdenum transporter1 (MOT1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
MYB-FL
Coloration (flower ; UV absorbance)
Cis-regulatory,
Insertion
Petunia axillaris
(species) D
Interspecific
Linkage Mapping
Sheehan H; Moser M; Klahre U ; et al. (2016)
MYB-FL controls gain and loss of floral UV absorbance, a key trait affecting pollinator preference a[...]
GP00001589
MYB-FL
A0A0S3CVD3
Morphology
A 977-kb insertion 12 bp upstream of the predicted TATA-binding box is causing upregulation of the promoter
Petunia integrifolia
(species)
Petunia axillaris
(species) D
MYB-FL
Petunia axillaris
(species)
Published - Accepted by Curator
MYB1
Coloration (inner flesh)
Cis-regulatory,
Unknown
Beta vulgaris
(species)
Domesticated
Candidate Gene
Hatlestad GJ; Akhavan NA; Sunnadeniya RM ; et al. (2015)
The beet Y locus encodes an anthocyanin MYB-like protein that activates the betalain red pigment pat[...]
GP00001396
MYB1
M1ETA5
Physiology
unknown mutations within 460bp of putative 5 prime UTR
Beta vulgaris
(species)
Beta vulgaris
(species)
MYB1
Beta vulgaris
(species)
Published - Accepted by Curator
MYB1
Coloration (inner flesh)
Cis-regulatory,
Epigenetic Change
Raphanus sativus
radish - (species) D
Domesticated
Candidate Gene
Wang Q; Wang Y; Sun H ; et al. (2020)
Transposon-induced methylation of the RsMYB1 promoter disturbs the anthocyanin accumulation in red-f[...]
GP00002094
MYB1
M1ETA5
Physiology
The taproot white-fleshed mutant is the result of altered DNA methylation in the RsMYB1 promoter. This heritable epigenetic change is due to a hypermethylated CACTA transposon (a 7372-bp TE) which induces the spreading of DNA methylation to the promoter region of RsMYB1. RsMYB1 expression is considerably downregulated and this inhibits anthocyanin biosynthesis in white-fleshed mutants.
Raphanus sativus
radish - (species)
Raphanus sativus
radish - (species) D
MYB1
Raphanus sativus
radish - (species)
Published - Accepted by Curator
Myogenic factor 5 (Myf5)
Rib morphology (skeleton)
Cis-regulatory,
SNP
Pantherophis guttatus guttatus
(subspecies) D
Malayopython reticulatus
reticulated python - (species) D
Boa constrictor
boa - (species) D
Intergeneric or Higher
Candidate Gene
Guerreiro I; Nunes A; Woltering JM ; et al. (2013)
Role of a polymorphism in a Hox/Pax-responsive enhancer in the evolution of the vertebrate spine.
GP00001716
Myf5
P24699
Morphology
one nucleotide change at a Hox binding site (CTAATTG to CCAATTG) - mouse transgenics and protein-DNA binding assay
Squamata
squamates - (order)
Pantherophis guttatus guttatus
(subspecies) D
Malayopython reticulatus
reticulated python - (species) D
Boa constrictor
boa - (species) D
Myogenic factor 5 (Myf5)
Pantherophis guttatus guttatus
(subspecies)
Malayopython reticulatus
reticulated python - (species)
Boa constrictor
boa - (species)
Published - Accepted by Curator
Myogenic factor 5 (Myf5)
Rib morphology (skeleton)
Cis-regulatory,
SNP
Trichechus manatus
West Indian manatee - (species) D
Procavia capensis
Cape rock hyrax - (species) D
Loxodonta africana
African savanna elephant - (species) D
Intergeneric or Higher
Candidate Gene
Guerreiro I; Nunes A; Woltering JM ; et al. (2013)
Role of a polymorphism in a Hox/Pax-responsive enhancer in the evolution of the vertebrate spine.
GP00001717
Myf5
P24699
Morphology
one nucleotide change at a Hox binding site (CTAATTG to CCAATTG) - mouse transgenics and protein-DNA binding assay
Eutheria
placentals - (no rank)
Trichechus manatus
West Indian manatee - (species) D
Procavia capensis
Cape rock hyrax - (species) D
Loxodonta africana
African savanna elephant - (species) D
Myogenic factor 5 (Myf5)
Trichechus manatus
West Indian manatee - (species)
Procavia capensis
Cape rock hyrax - (species)
Loxodonta africana
African savanna elephant - (species)
Published - Accepted by Curator
Myosin heavy chain 9
Heat tolerance
Racing performance
Cis-regulatory,
SNP
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Huson HJ; vonHoldt BM; Rimbault M ; et al. (2012)
Breed-specific ancestry studies and genome-wide association analysis highlight an association betwee[...]
GP00000684
MYH9
P35579
Physiology
Physiology
Several candidate SNPs - exact causing mutation(s) unknown
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
Myosin heavy chain 9
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Myostatin (MSTN = GDF8)
Muscular mass (double muscling)
Cis-regulatory,
SNP
Ovis aries
sheep - (species)
Domesticated
Linkage Mapping
Clop A; Marcq F; Takeda H ; et al. (2006)
A mutation creating a potential illegitimate microRNA target site in the myostatin gene affects musc[...]
GP00000695
MSTN
O14793
Morphology
1bp change; generates binding site for two muscle-expressed miRNAs; causing mRNA degradation and lower levels of circulating myostatin
G to A transition in the 3' UTR that creates a target site for mir1 and mir206 microRNAs
Ovis aries
sheep - (species)
Ovis aries
sheep - (species)
Myostatin (MSTN = GDF8)
Ovis aries
sheep - (species)
Published - Accepted by Curator
Myostatin (MSTN = GDF8)
Muscular mass (double muscling)
Cis-regulatory,
SNP
Sus scrofa domesticus
domestic pig - (subspecies)
Domesticated
Candidate Gene
Stinckens A; Luyten T; Bijttebier J ; et al. (2008)
Characterization of the complete porcine MSTN gene and expression levels in pig breeds differing in [...]
GP00000696
MSTN
O14793
Morphology
Possible promoter disruption ; changes the G nucleotide at position 8 of the MEF3 binding site into an A nucleotide, thus disrupting the MEF3 binding site
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies)
Myostatin (MSTN = GDF8)
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
Myostatin (MSTN = GDF8)
Racing performance
Cis-regulatory,
Insertion
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Binns MM; Boehler DA; Lambert DH (2010)
Identification of the myostatin locus (MSTN) as having a major effect on optimum racing distance in [...]
3 Additional References
GP00000698
MSTN
O14793
Morphology; Physiology
227-bp SINE insertion in promoter
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
Myostatin (MSTN = GDF8)
Equus caballus
horse - (species)
Published - Accepted by Curator
ndp (norrin)
Coloration (plumage)
Cis-regulatory,
Insertion
Corvus cornix
hooded crow - (species) D
Intraspecific
Association Mapping
Knief U; Bossu CM; Saino N ; et al. (2019)
Epistatic mutations under divergent selection govern phenotypic variation in the crow hybrid zone.
2 Additional References
GP00002148
Ndp
P48744
Morphology
2.25-kb LTR retrotransposon insertion reducing expression of the NDP gene and candidate gene LRP6 and a large LD haplotype in chr.18 also show a signal
Corvus corone corone
(subspecies)
Corvus cornix
hooded crow - (species) D
ndp (norrin)
Corvus cornix
hooded crow - (species)
Published - Accepted by Curator
ndp (norrin)
Coloration (plumage)
Cis-regulatory,
Insertion
N
Columba livia
rock pigeon - (species) D
Columba guinea
speckled pigeon - (species) D
Intraspecific
Association Mapping
Vickrey AI; Bruders R; Kronenberg Z ; et al. (2018)
Introgression of regulatory alleles and a missense coding mutation drive plumage pattern diversity i[...]
GP00002251
Ndp
P48744
Morphology
CNV driven by tandem repeats with one (bar) two (checker) or four (T-checker) copies per chromosome between approximative positions 1790000 and 1805600 N
Columba livia
rock pigeon - (species)
Columba livia
rock pigeon - (species) D
Columba guinea
speckled pigeon - (species) D
ndp (norrin)
Columba livia
rock pigeon - (species)
Columba guinea
speckled pigeon - (species)
Published - Accepted by Curator
NUDT7
Meat color
Cis-regulatory,
Unknown
Sus scrofa domesticus
domestic pig - (subspecies)
Domesticated
Linkage Mapping
Taniguchi M; Hayashi T; Nii M ; et al. (2010)
Fine mapping of quantitative trait loci for meat color on Sus scrofa chromosome 6: analysis of the s[...]
1 Additional References
GP00000741
Nudt7
Q99P30
Physiology
unknown
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies)
NUDT7
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
Oca2
Coloration (eyes; skin, hair)
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Eiberg H; Troelsen J; Nielsen M ; et al. (2008)
Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory el[...]
5 Additional References
GP00000747
Oca2
Q62052
Morphology
Causative SNP in enhancer localized in intron of neighbor gene HERC2 : likely rs12913832 within HERC2 which influences on OCA2 expression in eye hair and skin pigmentation
Homo sapiens
human - (species)
Homo sapiens
human - (species)
Oca2
Homo sapiens
human - (species)
Published - Accepted by Curator
ODORANT1 [pseudo-replication between 2 ODO1 entries due to possible homology between alleles]
Fragrance
Cis-regulatory,
Unknown
Petunia exserta
(species)
Interspecific
Linkage Mapping
Klahre U; Gurba A; Hermann K ; et al. (2011)
Pollinator choice in Petunia depends on two major genetic Loci for floral scent production.
GP00000750
ODO1
Q50EX6
Physiology
Not identified; but probably homologous to P. hybrida Mitchell x R27 promoter variation since these P. hybrida accessions are derived from a P. axillaris x P. integrifolia cross
Petunia axillaris
(species)
Petunia exserta
(species)
ODORANT1 [pseudo-replication between 2 ODO1 entries due to possible homology between alleles]
Petunia exserta
(species)
Published - Accepted by Curator
ODORANT1 [pseudo-replication between 2 ODO1 entries due to possible homology between alleles]
Fragrance
Cis-regulatory,
SNP
Petunia x hybrida
(species)
Domesticated
Linkage Mapping
Van Moerkercke A; Haring MA; Schuurink RC (2011)
The transcription factor EMISSION OF BENZENOIDS II activates the MYB ODORANT1 promoter at a MYB bind[...]
GP00000751
ODO1
Q50EX6
Physiology
C/T substitution in enhancer region MYB-TF binding site
Petunia x hybrida
(species)
Petunia x hybrida
(species)
ODORANT1 [pseudo-replication between 2 ODO1 entries due to possible homology between alleles]
Petunia x hybrida
(species)
Published - Accepted by Curator
opaque2 (O2)
Lysine content (endosperm)
Cis-regulatory,
Insertion
Zea mays
(species) D
Domesticated
Linkage Mapping
Schmidt RJ; Burr FA; Burr B (1987)
Transposon tagging and molecular analysis of the maize regulatory locus opaque-2.
GP00000754
O2
P12959
Physiology
insertion of a non-autonomous rbg transposable element in the untranslated leader sequence of the O2 gene
Zea mays
(species)
Zea mays
(species) D
opaque2 (O2)
Zea mays
(species)
Published - Accepted by Curator
Optix
Coloration (wing, Mullerian mimicry)
Cis-regulatory,
Unknown
Heliconius pachinus
(species)
Intraspecific
Linkage Mapping
Reed RD; Papa R; Martin A ; et al. (2011)
optix drives the repeated convergent evolution of butterfly wing pattern mimicry.
1 Additional References
GP00000795
Optix
Q95RW8
Morphology
Not identified
Heliconius cydno
(species)
Heliconius pachinus
(species)
Optix
Heliconius pachinus
(species)
Published - Accepted by Curator
Optix
Coloration (wing, Mullerian mimicry)
Cis-regulatory,
Unknown
Heliconius himera
(species)
Intraspecific
Linkage Mapping
Reed RD; Papa R; Martin A ; et al. (2011)
optix drives the repeated convergent evolution of butterfly wing pattern mimicry.
1 Additional References
GP00000796
Optix
Q95RW8
Morphology
Not identified
Heliconius erato
crimson-patched longwing - (species)
Heliconius himera
(species)
Optix
Heliconius himera
(species)
Published - Accepted by Curator
Optix
Coloration (wing, Mullerian mimicry)
Cis-regulatory,
Unknown
Heliconius erato
crimson-patched longwing - (species)
Intraspecific
Linkage Mapping
Reed RD; Papa R; Martin A ; et al. (2011)
optix drives the repeated convergent evolution of butterfly wing pattern mimicry.
1 Additional References
GP00000797
Optix
Q95RW8
Morphology
Not identified
Heliconius erato
crimson-patched longwing - (species)
Heliconius erato
crimson-patched longwing - (species)
Optix
Heliconius erato
crimson-patched longwing - (species)
Published - Accepted by Curator
Optix
Coloration (wing, Mullerian mimicry)
Cis-regulatory,
Unknown
Heliconius melpomene
postman butterfly - (species)
Intraspecific
Linkage Mapping
Reed RD; Papa R; Martin A ; et al. (2011)
optix drives the repeated convergent evolution of butterfly wing pattern mimicry.
1 Additional References
GP00000798
Optix
Q95RW8
Morphology
Not identified
Heliconius melpomene
postman butterfly - (species)
Heliconius melpomene
postman butterfly - (species)
Optix
Heliconius melpomene
postman butterfly - (species)
Published - Accepted by Curator
ORGANIC CATION TRANSPORTER 1
Root growth (root length response to exogenous cadaverine)
Cis-regulatory,
Unknown
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Strohm AK; Vaughn LM; Masson PH (2015)
Natural variation in the expression of ORGANIC CATION TRANSPORTER 1 affects root length responses to[...]
GP00001279
OCT1
Q9CAT6
Physiology
unknown
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
ORGANIC CATION TRANSPORTER 1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
OsCKX2=Gn1a
Grain yield
Cis-regulatory,
Unknown
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Ashikari M; Sakakibara H; Lin S ; et al. (2005)
Cytokinin oxidase regulates rice grain production.
GP00000808
CKX2
Q4ADV8
Morphology
Not identified
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
OsCKX2=Gn1a
Oryza sativa
rice - (species)
Published - Accepted by Curator
OsCKX2=Gn1a
Grain yield
Cis-regulatory,
Unknown
Triticum aestivum
bread wheat - (species)
Domesticated
Linkage Mapping
Zhang L; Zhao YL; Gao LF ; et al. (2012)
TaCKX6-D1, the ortholog of rice OsCKX2, is associated with grain weight in hexaploid wheat.
GP00000809
CKX2
Q4ADV8
Morphology
unknown
Triticum aestivum
bread wheat - (species)
Triticum aestivum
bread wheat - (species)
OsCKX2=Gn1a
Triticum aestivum
bread wheat - (species)
Published - Accepted by Curator
OsGA20ox1
Seedling vigor
Cis-regulatory,
Unknown
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Abe A; Takagi H; Fujibe T ; et al. (2012)
OsGA20ox1, a candidate gene for a major QTL controlling seedling vigor in rice.
GP00000810
GA20OX1
P93771
Physiology
unknown ; no coding variation
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
OsGA20ox1
Oryza sativa
rice - (species)
Published - Accepted by Curator
OsLG1
Seed shattering (panicle shape)
Cis-regulatory,
Unknown
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Ishii T; Numaguchi K; Miura K ; et al. (2013)
OsLG1 regulates a closed panicle trait in domesticated rice.
GP00000811
SPL8
Q7XPY1
Morphology
unknown but fine-mapped 9.3kb region
Oryza rufipogon
(species)
Oryza sativa
rice - (species)
OsLG1
Oryza sativa
rice - (species)
Published - Accepted by Curator
OsSPL13
Grain size
Cis-regulatory,
Insertion
Oryza sativa Japonica Group
Japanese rice - (no rank) D
Domesticated
Association Mapping
Si L; Chen J; Huang X ; et al. (2016)
OsSPL13 controls grain size in cultivated rice.
GP00001572
SPL13
Q6Z461
Morphology
a CACTTC tandem repeat sequence in the 5' UTR is causing reduced expression
Oryza sativa
rice - (species)
Oryza sativa Japonica Group
Japanese rice - (no rank) D
OsSPL13
Oryza sativa Japonica Group
Japanese rice - (no rank)
Published - Accepted by Curator
OsSPL14 / WFP
Grain yield
Cis-regulatory,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Jiao Y; Wang Y; Xue D ; et al. (2010)
Regulation of OsSPL14 by OsmiR156 defines ideal plant architecture in rice.
1 Additional References
GP00000813
IPA1
D8WJ58
Morphology
Point mutation resulting in altered binding of a micro-RNA
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
OsSPL14 / WFP
Oryza sativa
rice - (species)
Published - Accepted by Curator
OsSPL16
Grain size
Grain shape
Cis-regulatory,
Unknown
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Wang S; Wu K; Yuan Q ; et al. (2012)
Control of grain size, shape and quality by OsSPL16 in rice.
1 Additional References
GP00000814
SPL16
L0AP48
Morphology
Morphology
Promoter variation
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
OsSPL16
Oryza sativa
rice - (species)
Published - Accepted by Curator
pannier
Coloration (elytra)
Cis-regulatory,
Unknown
Harmonia axyridis
(species)
Intraspecific
Association Mapping
Ando T; Niimi T (2019)
Development and evolution of color patterns in ladybird beetles: A case study in Harmonia axyridis.
2 Additional References
GP00001705
pnr
P52168
Morphology
exact mutation(s) unknown
Harmonia axyridis
(species)
Harmonia axyridis
(species)
pannier
Harmonia axyridis
(species)
Published - Accepted by Curator
pannier
Coloration (elytra)
Cis-regulatory,
Unknown
Harmonia axyridis
(species)
Intraspecific
Association Mapping
Ando T; Niimi T (2019)
Development and evolution of color patterns in ladybird beetles: A case study in Harmonia axyridis.
2 Additional References
GP00001706
pnr
P52168
Morphology
exact mutation(s) unknown
Harmonia axyridis
(species)
Harmonia axyridis
(species)
pannier
Harmonia axyridis
(species)
Published - Accepted by Curator
pannier
Coloration (elytra)
Cis-regulatory,
Unknown
Harmonia axyridis
(species)
Intraspecific
Association Mapping
Ando T; Niimi T (2019)
Development and evolution of color patterns in ladybird beetles: A case study in Harmonia axyridis.
2 Additional References
GP00001707
pnr
P52168
Morphology
exact mutation(s) unknown
Harmonia axyridis
(species)
Harmonia axyridis
(species)
pannier
Harmonia axyridis
(species)
Published - Accepted by Curator
Patched1 (Ptc1)
Cranio-facial morphology
Cis-regulatory,
Unknown
Maylandia mbenjii
(species) D
Interspecific
Linkage Mapping
Roberts RB; Hu Y; Albertson RC ; et al. (2011)
Craniofacial divergence and ongoing adaptation via the hedgehog pathway.
1 Additional References
GP00000856
ptch1
Q98864
Morphology
Uncharacterized cis-regulatory change - with ancestral Labeotropheus (LF) allele exhibiting relatively higher levels of expression
Labeotropheus fuelleborni
blue mbuna - (species)
Maylandia mbenjii
(species) D
Patched1 (Ptc1)
Maylandia mbenjii
(species)
Published - Accepted by Curator
pax3a
Coloration (scales)
Cis-regulatory,
SNP
Tropheops sp. 'red cheek'
(species)
Interspecific
Linkage Mapping
Albertson RC; Powder KE; Hu Y ; et al. (2014)
Genetic basis of continuous variation in the levels and modular inheritance of pigmentation in cichl[...]
GP00001417
pax3a
Q6DHA7
Morphology
C>T SNP within 5UTR
Labeotropheus fuelleborni
blue mbuna - (species)
Tropheops sp. 'red cheek'
(species)
pax3a
Tropheops sp. 'red cheek'
(species)
Published - Accepted by Curator
Pax7
Coloration (scales)
Cis-regulatory,
Unknown
Maylandia zebra
zebra mbuna - (species)
Interspecific
Linkage Mapping
Roberts RB; Ser JR; Kocher TD (2009)
Sexual conflict resolved by invasion of a novel sex determiner in Lake Malawi cichlid fishes.
GP00000857
Pax7
P47239
Morphology
Not identified
Labeotropheus fuelleborni
blue mbuna - (species)
Maylandia zebra
zebra mbuna - (species)
Pax7
Maylandia zebra
zebra mbuna - (species)
Published - Accepted by Curator
pax7a
Coloration (scales)
Cis-regulatory,
Unknown
Labeotropheus trewavasae
(species)
Intraspecific
Candidate Gene
Roberts RB; Moore EC; Kocher TD (2017)
An allelic series at pax7a is associated with colour polymorphism diversity in Lake Malawi cichlid f[...]
GP00001422
Pax7
P47239
Morphology
unknown
Labeotropheus trewavasae
(species)
Labeotropheus trewavasae
(species)
pax7a
Labeotropheus trewavasae
(species)
Published - Accepted by Curator
pax7a
Coloration (scales)
Cis-regulatory,
Unknown
Labeotropheus trewavasae
(species)
Intraspecific
Candidate Gene
Roberts RB; Moore EC; Kocher TD (2017)
An allelic series at pax7a is associated with colour polymorphism diversity in Lake Malawi cichlid f[...]
GP00001423
Pax7
P47239
Morphology
unknown
Labeotropheus trewavasae
(species)
Labeotropheus trewavasae
(species)
pax7a
Labeotropheus trewavasae
(species)
Published - Accepted by Curator
pax7a
Coloration (scales)
Cis-regulatory,
Unknown
Labeotropheus trewavasae
(species)
Intraspecific
Candidate Gene
Roberts RB; Moore EC; Kocher TD (2017)
An allelic series at pax7a is associated with colour polymorphism diversity in Lake Malawi cichlid f[...]
GP00001424
Pax7
P47239
Morphology
unknown
Labeotropheus trewavasae
(species)
Labeotropheus trewavasae
(species)
pax7a
Labeotropheus trewavasae
(species)
Published - Accepted by Curator
pdm3
Coloration (female abdomen)
Cis-regulatory,
Complex Change
Drosophila serrata
(species) D
Intraspecific
Linkage Mapping
Yassin A; Delaney EK; Reddiex AJ ; et al. (2016)
The pdm3 Locus Is a Hotspot for Recurrent Evolution of Female-Limited Color Dimorphism in Drosophila[...]
GP00001400
pdm3
A0A0B4LEG2
Morphology
1st intron variant divergent in length and sequence. Dark haplotype contains four tandem sets of three motifs.
Drosophila serrata
(species)
Drosophila serrata
(species) D
pdm3
Drosophila serrata
(species)
Published - Accepted by Curator
pdm3
Coloration (female abdomen)
Cis-regulatory,
Unknown
Drosophila kikkawai
(species)
Intraspecific
Linkage Mapping
Yassin A; Delaney EK; Reddiex AJ ; et al. (2016)
The pdm3 Locus Is a Hotspot for Recurrent Evolution of Female-Limited Color Dimorphism in Drosophila[...]
GP00001401
pdm3
A0A0B4LEG2
Morphology
associated SNPs occur in the intergenic upstream region except one in the second intron
Drosophila kikkawai
(species)
Drosophila kikkawai
(species)
pdm3
Drosophila kikkawai
(species)
Published - Accepted by Curator
pdm3
Coloration (abdomen; male)
Cis-regulatory,
Unknown
Drosophila santomea
(species) D
Interspecific
Linkage Mapping
Liu Y; Ramos-Womack M; Han C ; et al. (2019)
Changes throughout a Genetic Network Mask the Contribution of Hox Gene Evolution.
GP00002022
pdm3
A0A0B4LEG2
Morphology
change in a cis-regulatory region - exact causing mutation(s) unknown - increased pdm3 abdominal expression associated with lighter color
Drosophila yakuba
(species)
Drosophila santomea
(species) D
pdm3
Drosophila santomea
(species)
Published - Accepted by Curator
PDSS2
Feather
Cis-regulatory,
SNP
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Feng C; Gao Y; Dorshorst B ; et al. (2014)
A cis-regulatory mutation of PDSS2 causes silky-feather in chickens.
GP00002254
Q86YH6NULL
Morphology
Only variant explaining homozygous phenotype is c.-103C>G and shown to reduce PDSS2 promoter activity in vitro
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
PDSS2
Gallus gallus
chicken - (species)
Published - Accepted by Curator
pericarp color1 (P1)
Coloration (seed)
Cis-regulatory,
Insertion
Zea mays
(species) D
Domesticated
Linkage Mapping
Lechelt C; Peterson T; Laird A ; et al. (1989)
Isolation and molecular analysis of the maize P locus.
GP00000859
P1
O24579
Morphology
insertion of transposable element Ac within a large intron; affecting transcripts. The five transcripts found in P-RR plants are absent in P-VV. A chimeric transcript containing part of Ac sequence is found.
Zea mays
(species)
Zea mays
(species) D
pericarp color1 (P1)
Zea mays
(species)
Published - Accepted by Curator
phosphoenolpyruvate carboxylase (PEPC)
C3-C4 photosynthesis (enzymatic properties)
Cis-regulatory,
Insertion
Flaveria trinervia
(species) D
Interspecific
Candidate Gene
Akyildiz M; Gowik U; Engelmann S ; et al. (2007)
Evolution and function of a cis-regulatory module for mesophyll-specific gene expression in the C4 d[...]
GP00000868
PPCA
P30694
Physiology
insertion of tetranucleotide CACT
Flaveria pringlei
(species)
Flaveria trinervia
(species) D
phosphoenolpyruvate carboxylase (PEPC)
Flaveria trinervia
(species)
Published - Accepted by Curator
phosphoenolpyruvate carboxylase (PEPC)
C3-C4 photosynthesis (enzymatic properties)
Cis-regulatory,
SNP
Flaveria trinervia
(species)
Interspecific
Candidate Gene
Akyildiz M; Gowik U; Engelmann S ; et al. (2007)
Evolution and function of a cis-regulatory module for mesophyll-specific gene expression in the C4 d[...]
GP00000869
PPCA
P30694
Physiology
G->A
Flaveria pringlei
(species)
Flaveria trinervia
(species)
phosphoenolpyruvate carboxylase (PEPC)
Flaveria trinervia
(species)
Published - Accepted by Curator
Pit
Pathogen resistance (rice blast disease; fungal pathogen; Magnaporthe grisea)
Cis-regulatory,
Insertion
Oryza sativa
rice - (species) D
Domesticated
Linkage Mapping
Hayashi K; Yoshida H (2009)
Refunctionalization of the ancient rice blast disease resistance gene Pit by the recruitment of a re[...]
GP00002052
Pit
B9A1G4
Physiology
insertion of a 5.5-kb LTR retrotransposon Renovator upstream of the gene (256‐bp upstream of the predicted start codon for NBSt2K59; in the same orientation as the gene)
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
Pit
Oryza sativa
rice - (species)
Published - Accepted by Curator
Pitx1
Limb Identity (feathered feet)
Cis-regulatory,
Deletion
Columba livia
rock pigeon - (species) D
Domesticated
Linkage Mapping
Domyan ET; Kronenberg Z; Infante CR ; et al. (2016)
Molecular shifts in limb identity underlie development of feathered feet in two domestic avian speci[...]
GP00000885
PITX1
P56673
Morphology
44kb deletion
Columba livia
rock pigeon - (species)
Columba livia
rock pigeon - (species) D
Pitx1
Columba livia
rock pigeon - (species)
Published - Accepted by Curator
pitx1
Pelvis morphology (loss of ventral spines)
Cis-regulatory,
Deletion
Gasterosteus aculeatus
three-spined stickleback - (species) D
Intraspecific
Linkage Mapping
Shapiro MD; Marks ME; Peichel CL ; et al. (2004)
Genetic and developmental basis of evolutionary pelvic reduction in threespine sticklebacks.
1 Additional References
GP00000886
Pitx1
P70314
Morphology
488bp promoter region : deletion 1 ; 5 kb deletion
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species) D
pitx1
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
pitx1
Pelvis morphology (loss of ventral spines)
Cis-regulatory,
Deletion
Gasterosteus aculeatus
three-spined stickleback - (species) D
Intraspecific
Linkage Mapping
Shapiro MD; Marks ME; Peichel CL ; et al. (2004)
Genetic and developmental basis of evolutionary pelvic reduction in threespine sticklebacks.
1 Additional References
GP00000887
Pitx1
P70314
Morphology
488bp promoter region : deletion 2 ; 757bp deletion present in the pelvic-reduced BEPA population from Alaska
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species) D
pitx1
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
pitx1
Pelvis morphology (loss of ventral spines)
Cis-regulatory,
Deletion
Gasterosteus aculeatus
three-spined stickleback - (species) D
Intraspecific
Linkage Mapping
Shapiro MD; Marks ME; Peichel CL ; et al. (2004)
Genetic and developmental basis of evolutionary pelvic reduction in threespine sticklebacks.
1 Additional References
GP00000888
Pitx1
P70314
Morphology
488bp promoter region : deletion 3 ; 3.5 kb deletion
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species) D
pitx1
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
pitx1
Pelvis morphology (loss of ventral spines)
Cis-regulatory,
Deletion
Gasterosteus aculeatus
three-spined stickleback - (species) D
Intraspecific
Linkage Mapping
Shapiro MD; Marks ME; Peichel CL ; et al. (2004)
Genetic and developmental basis of evolutionary pelvic reduction in threespine sticklebacks.
1 Additional References
GP00000889
Pitx1
P70314
Morphology
488bp promoter region : deletion 4 ; 757 bp deletion
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species) D
pitx1
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
pitx1
Pelvis morphology (loss of ventral spines)
Cis-regulatory,
Deletion
Gasterosteus aculeatus
three-spined stickleback - (species) D
Intraspecific
Linkage Mapping
Shapiro MD; Marks ME; Peichel CL ; et al. (2004)
Genetic and developmental basis of evolutionary pelvic reduction in threespine sticklebacks.
1 Additional References
GP00000890
Pitx1
P70314
Morphology
488bp promoter region : deletion 5 ; 2 kb deletion
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species) D
pitx1
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
pitx1
Pelvis morphology (loss of ventral spines)
Cis-regulatory,
Deletion
Gasterosteus aculeatus
three-spined stickleback - (species) D
Intraspecific
Linkage Mapping
Shapiro MD; Marks ME; Peichel CL ; et al. (2004)
Genetic and developmental basis of evolutionary pelvic reduction in threespine sticklebacks.
1 Additional References
GP00000891
Pitx1
P70314
Morphology
488bp promoter region : deletion 6 ; 973bp deletion present in the Hump Lake AK pelvic-reduced population (HUMP)
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species) D
pitx1
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
pitx1
Pelvis morphology (loss of ventral spines)
Cis-regulatory,
Deletion
Gasterosteus aculeatus
three-spined stickleback - (species) D
Intraspecific
Linkage Mapping
Shapiro MD; Marks ME; Peichel CL ; et al. (2004)
Genetic and developmental basis of evolutionary pelvic reduction in threespine sticklebacks.
1 Additional References
GP00000892
Pitx1
P70314
Morphology
488bp promoter region : deletion 7 ; 1868bp deletion
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species) D
pitx1
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
pitx1
Pelvis morphology (loss of ventral spines)
Cis-regulatory,
Deletion
Gasterosteus aculeatus
three-spined stickleback - (species) D
Intraspecific
Linkage Mapping
Shapiro MD; Marks ME; Peichel CL ; et al. (2004)
Genetic and developmental basis of evolutionary pelvic reduction in threespine sticklebacks.
1 Additional References
GP00000893
Pitx1
P70314
Morphology
488bp promoter region : deletion 8 ; 8 kb deletion
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species) D
pitx1
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
pitx1
Pelvis morphology (loss of ventral spines)
Cis-regulatory,
Deletion
Gasterosteus aculeatus
three-spined stickleback - (species) D
Intraspecific
Linkage Mapping
Shapiro MD; Marks ME; Peichel CL ; et al. (2004)
Genetic and developmental basis of evolutionary pelvic reduction in threespine sticklebacks.
1 Additional References
GP00000894
Pitx1
P70314
Morphology
488bp promoter region : deletion 9 ; 8 kb deletion
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species) D
pitx1
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
PLAG1
Body size (height; weight)
Cis-regulatory,
Insertion
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Karim L; Takeda H; Lin L ; et al. (2011)
Variants modulating the expression of a chromosome domain encompassing PLAG1 influence bovine statur[...]
GP00001569
PLAG1
E1BEA5
Morphology
a (CCG)n trinucleotide repeat with 9> 11 copies and a SNP A>G immediately upstream of PLAG1 transcriptional start site
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
PLAG1
Bos taurus
cattle - (species)
Published - Accepted by Curator
PMEL17
Coloration (coat)
Cis-regulatory,
Insertion
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Clark LA; Wahl JM; Rees CA ; et al. (2006)
Retrotransposon insertion in SILV is responsible for merle patterning of the domestic dog.
GP00002072
Pmel
Q60696
Morphology
due to a short interspersed element (SINE) insertion at the intron 10/exon 11 boundary. The SINE segregates with the merle phenotype in multiple breeds (Collie, Border Collie, Australian Shepherd, Cardigan Welsh Corgi, Dachshund, and Great Dane) and is absent from dogs representing breeds that do not have merle patterning. All examined harlequin Great Danes harbored the insertion in either a heterozygous or homozygous state.
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
PMEL17
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
PMEL17
Coloration (coat)
Cis-regulatory,
Insertion
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Langevin M; Synkova H; Jancuskova T ; et al. (2018)
Merle phenotypes in dogs - SILV SINE insertions from Mc to Mh.
1 Additional References
GP00002266
Pmel
Q60696
Morphology
Allele of the Merle SINE insertaiion : Mc (208-230bp)
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
PMEL17
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
PMEL17
Coloration (coat)
Cis-regulatory,
Insertion
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Langevin M; Synkova H; Jancuskova T ; et al. (2018)
Merle phenotypes in dogs - SILV SINE insertions from Mc to Mh.
1 Additional References
GP00002267
Pmel
Q60696
Morphology
Allele of the Merle SINE insertion : Mc+ (231-245bp)
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
PMEL17
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
PMEL17
Coloration (coat)
Cis-regulatory,
Insertion
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Langevin M; Synkova H; Jancuskova T ; et al. (2018)
Merle phenotypes in dogs - SILV SINE insertions from Mc to Mh.
1 Additional References
GP00002268
Pmel
Q60696
Morphology
Allele of the Merle SINE insertion : Ma (247-254bp)
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
PMEL17
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
PMEL17
Coloration (coat)
Cis-regulatory,
Insertion
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Langevin M; Synkova H; Jancuskova T ; et al. (2018)
Merle phenotypes in dogs - SILV SINE insertions from Mc to Mh.
1 Additional References
GP00002269
Pmel
Q60696
Morphology
Allele of the Merle SINE insertion : Ma+ (255-264bp)
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
PMEL17
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
PMEL17
Coloration (coat)
Cis-regulatory,
Insertion
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Langevin M; Synkova H; Jancuskova T ; et al. (2018)
Merle phenotypes in dogs - SILV SINE insertions from Mc to Mh.
1 Additional References
GP00002270
Pmel
Q60696
Morphology
Allele of the Merle SINE insertion : Mh (269-277bp)
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
PMEL17
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
POLLED locus
Horns absence
Cis-regulatory,
Indel
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Medugorac I; Seichter D; Graf A ; et al. (2012)
Bovine polledness--an autosomal dominant trait with allelic heterogeneity.
2 Additional References
GP00000916
Morphology
complex 202-bp insertion-deletion in a non-coding region resulting in a long non-coding RNA (lncRNA) ectopic expression
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
POLLED locus
Bos taurus
cattle - (species)
Published - Accepted by Curator
POLLED locus
Horns absence
Cis-regulatory,
Insertion
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Medugorac I; Seichter D; Graf A ; et al. (2012)
Bovine polledness--an autosomal dominant trait with allelic heterogeneity.
3 Additional References
GP00002029
Morphology
a 80kb duplication is the "single causal mutation" in Holstein-Friesian cattle complex
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
POLLED locus
Bos taurus
cattle - (species)
Published - Accepted by Curator
POLLED locus
Horns absence
Cis-regulatory,
Complex Change
Bos taurus
cattle - (species) D
Bos grunniens
domestic yak - (species) D
Domesticated
Association Mapping
Medugorac I; Graf A; Grohs C ; et al. (2017)
Whole-genome analysis of introgressive hybridization and characterization of the bovine legacy of Mo[...]
GP00002030
Morphology
a complex 219-bp duplication–insertion (P219ID) beginning at 1;976;128 bp and a 7-bp deletion and 6-bp insertion (P1ID) located 621 bp upstream of this position. This rearrangement results in duplication of an 11-bp motif (5′-AAAGAAGCAAA-3′) that is entirely conserved among Bovidae and that is also duplicated in the 80-kb duplication responsible for Friesian polledness.
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Bos grunniens
domestic yak - (species) D
POLLED locus
Bos taurus
cattle - (species)
Bos grunniens
domestic yak - (species)
Published - Accepted by Curator
POLLED locus
Horns absence
Cis-regulatory,
Insertion
Bos taurus
cattle - (species) D
Domesticated
Association Mapping
Utsunomiya YT; Torrecilha RBP; Milanesi M ; et al. (2019)
Hornless Nellore cattle (Bos indicus) carrying a novel 110 kbp duplication variant of the polled loc[...]
GP00002031
Morphology
duplication of the region BTA1: 1;893;790–2;004;553 (about 110 kb)
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
POLLED locus
Bos taurus
cattle - (species)
Published - Accepted by Curator
PPAR-gamma
Fertility
Cis-regulatory,
SNP
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Association Mapping
Hoedjes KM; Kostic H; Flatt T ; et al. (2023)
A Single Nucleotide Variant in the PPARγ-homolog Eip75B Affects Fecundity in Drosophila.
GP00002664
Eip75B
P17672
Physiology
This SNP is biallelic with the “T” variant being more common in the late-reproducing long-lived populations (average frequency: 0.84 “T” / 0.16 “G”) as compared to the early-reproducing populations (average frequency: 0.52 “T” / 0.48 “G”).
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
PPAR-gamma
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
prodynorphin (PDYN)
Neuroendocronological homeostasis
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Interspecific
Candidate Gene
Rockman MV; Hahn MW; Soranzo N ; et al. (2005)
Ancient and recent positive selection transformed opioid cis-regulation in humans.
1 Additional References
GP00000924
PDYN
P01213
Physiology
up to 5 polymorphisms in 5' regulatory region
Primates
(order)
Homo sapiens
human - (species)
prodynorphin (PDYN)
Homo sapiens
human - (species)
Published - Accepted by Curator
Prolactin (deciduous Prolactin; dPRL)
Gene expression change (quantitative; increase)
Cis-regulatory,
SNP
Homininae
(subfamily)
Intergeneric or Higher
Candidate Gene
Emera D; Wagner GP (2012)
Transformation of a transposon into a derived prolactin promoter with function during human pregnanc[...]
GP00000926
PRL
P01236
Physiology
Acquisition of enhancer activity in transposons via several base-pair substitutions
Primates
(order)
Homininae
(subfamily)
Prolactin (deciduous Prolactin; dPRL)
Homininae
(subfamily)
Published - Accepted by Curator
Prolactin receptor
Fertility
Cis-regulatory,
Insertion
Sus scrofa domesticus
domestic pig - (subspecies) D
Domesticated
Linkage Mapping
Sironen A; Fischer D; Laiho A ; et al. (2014)
A recent L1 insertion within SPEF2 gene is associated with changes in PRLR expression in sow reprodu[...]
1 Additional References
GP00002339
PRLR
P16471
Physiology
L1 insertion in sperm-factor SPEF2 gene causes sperm defect but also downregulation of PRLR
Sus scrofa domesticus
domestic pig - (subspecies)
Sus scrofa domesticus
domestic pig - (subspecies) D
Prolactin receptor
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
Prolactin releasing hormone receptor (Prlhr/GPR10)
Body size (weight)
Cis-regulatory,
Unknown
Mus musculus
house mouse - (species)
Domesticated
Association Mapping
Chan YF; Jones FC; McConnell E ; et al. (2012)
Parallel selection mapping using artificially selected mice reveals body weight control loci.
GP00000928
PRLHR
P49683
Physiology
unknown
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species)
Prolactin releasing hormone receptor (Prlhr/GPR10)
Mus musculus
house mouse - (species)
Published - Accepted by Curator
Proline specific permease PUT4
Nitrogen use (growth rate on proline)
Cis-regulatory,
Unknown
Saccharomyces cerevisiae
baker's yeast - (species) D
Intraspecific
Linkage Mapping
Ibstedt S; Stenberg S; Bagés S ; et al. (2015)
Concerted evolution of life stage performances signals recent selection on yeast nitrogen use.
GP00001501
PUT4
P15380
Physiology
several synonymous and promoter mutations
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Proline specific permease PUT4
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
prolyl endopeptidase (PREP)
Coloration (scales)
Cis-regulatory,
Unknown
Uta stansburiana
(species) D
Intraspecific
Association Mapping
Corl A; Bi K; Luke C ; et al. (2018)
The Genetic Basis of Adaptation following Plastic Changes in Coloration in a Novel Environment.
GP00002108
PREP
P48147
Morphology
no coding mutation associated with the phenotype - 2 differentiated SNPs in introns and one is a synonymous change.
Uta stansburiana
(species)
Uta stansburiana
(species) D
prolyl endopeptidase (PREP)
Uta stansburiana
(species)
Published - Accepted by Curator
protein kinase cAMP-dependent type I regulatory subunit alpha (PRKAR1A)
Coloration (scales)
Cis-regulatory,
Unknown
Uta stansburiana
(species) D
Intraspecific
Association Mapping
Corl A; Bi K; Luke C ; et al. (2018)
The Genetic Basis of Adaptation following Plastic Changes in Coloration in a Novel Environment.
GP00002109
Prkar1a
Q9DBC7
Morphology
no coding mutation associated with the phenotype - one differentiated SNP in an intron in the 5' UTR
Uta stansburiana
(species)
Uta stansburiana
(species) D
protein kinase cAMP-dependent type I regulatory subunit alpha (PRKAR1A)
Uta stansburiana
(species)
Published - Accepted by Curator
Prx1 = Mhox = Prrx1
Limb length
Cis-regulatory,
Unknown
Carollia perspicillata
Seba's short-tailed bat - (species)
Intergeneric or Higher
Candidate Gene
Cretekos CJ; Wang Y; Green ED ; et al. (2008)
Regulatory divergence modifies limb length between mammals.
GP00000934
Prrx1
P63013
Morphology
Not identified
Mus musculus
house mouse - (species)
Carollia perspicillata
Seba's short-tailed bat - (species)
Prx1 = Mhox = Prrx1
Carollia perspicillata
Seba's short-tailed bat - (species)
Published - Accepted by Curator
Ptch1
Limb morphology (skeleton)
Cis-regulatory,
Unknown
Bos taurus
cattle - (species) D
Intergeneric or Higher
Candidate Gene
Lopez-Rios J; Duchesne A; Speziale D ; et al. (2014)
Attenuated sensing of SHH by Ptch1 underlies evolution of bovine limbs.
GP00001389
Ptch1
Q61115
Morphology
LRM enhancer located between coding exons 15 and 19 at 37 kb of the transcription start site - exact causing mutation(s) unknown - Loss of activity of the LRM enhancer that normally upregulates Ptch1 expression in the limb-bud mesenchyme in response to SHH signalling
Mus musculus
house mouse - (species)
Bos taurus
cattle - (species) D
Ptch1
Bos taurus
cattle - (species)
Published - Accepted by Curator
PTS/TKD1
Leaf shape
Cis-regulatory,
Deletion
Solanum galapagense
(species) D
Interspecific
Linkage Mapping
Kimura S; Koenig D; Kang J ; et al. (2008)
Natural variation in leaf morphology results from mutation of a novel KNOX gene.
GP00000938
PTS
B2Y2G9
Morphology
1bp deletion at -1232 from start Met
Solanum cheesmaniae
(species)
Solanum galapagense
(species) D
PTS/TKD1
Solanum galapagense
(species)
Published - Accepted by Curator
Purple (Pr)
Plant color
Cis-regulatory,
Unknown
Brassica oleracea var. botrytis
(varietas)
Domesticated
Linkage Mapping
Chiu LW; Zhou X; Burke S ; et al. (2010)
The purple cauliflower arises from activation of a MYB transcription factor.
GP00000939
MYB2
E5D8F5
Morphology
unknown
Brassica oleracea
wild cabbage - (species)
Brassica oleracea var. botrytis
(varietas)
Purple (Pr)
Brassica oleracea var. botrytis
(varietas)
Published - Accepted by Curator
qSH1
Seed shattering
Cis-regulatory,
SNP
Oryza sativa
rice - (species)
Domesticated
Linkage Mapping
Konishi S; Izawa T; Lin SY ; et al. (2006)
An SNP caused loss of seed shattering during rice domestication.
GP00000942
qSH1
Q941S9
Physiology
1bp change
Oryza sativa
rice - (species)
Oryza sativa
rice - (species)
qSH1
Oryza sativa
rice - (species)
Published - Accepted by Curator
qSH1 (REPLUMLESS)
Seed shattering
Cis-regulatory,
SNP
Brassicaceae
mustard family - (family)
Interspecific
Candidate Gene
Arnaud N; Lawrenson T; Østergaard L ; et al. (2011)
The same regulatory point mutation changed seed-dispersal structures in evolution and domestication.
GP00000943
qSH1
Q941S9
Physiology
1bp change
Brassicaceae
mustard family - (family)
Brassicaceae
mustard family - (family)
qSH1 (REPLUMLESS)
Brassicaceae
mustard family - (family)
Published - Accepted by Curator
R-spondin-2 (RSPO2)
Hair length (moustache / eyebrows)
Cis-regulatory,
Insertion
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Cadieu E; Neff MW; Quignon P ; et al. (2009)
Coat variation in the domestic dog is governed by variants in three genes.
GP00000945
Rspo2
Q8BFU0
Morphology
a 167bp insertion within the 3'UTR at position which leads to a threefold increase in transcription of RSPO2 in muzzle skin of dogs with furnishings
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
R-spondin-2 (RSPO2)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
R2R3-Myb
Coloration (flowers)
Cis-regulatory,
Unknown
Phlox drummondii
(species)
Intraspecific
Linkage Mapping
Hopkins R; Rausher MD (2011)
Identification of two genes causing reinforcement in the Texas wildflower Phlox drummondii.
GP00000948
H8ZS70
Morphology
unknown
Phlox drummondii
(species)
Phlox drummondii
(species)
R2R3-Myb
Phlox drummondii
(species)
Published - Accepted by Curator
RALY (hnRNP associated with lethal yellow)
Coloration (coat)
Cis-regulatory,
Insertion
Canis lupus
gray wolf - (species) D
Intraspecific
Association Mapping
Dreger DL; Parker HG; Ostrander EA ; et al. (2013 May-Jun)
Identification of a mutation that is associated with the saddle tan and black-and-tan phenotypes in [...]
GP00001366
RALY
Q9UKM9
Morphology
16 bpduplication g.1875_1890dupCCCCAGGTCAGAGTTT in intron
Canis lupus
gray wolf - (species)
Canis lupus
gray wolf - (species) D
RALY (hnRNP associated with lethal yellow)
Canis lupus
gray wolf - (species)
Published - Accepted by Curator
Rap2.7 (vgt1)
Flowering time
Cis-regulatory,
Unknown
Zea mays
(species)
Domesticated
Linkage Mapping
Salvi S; Sponza G; Morgante M ; et al. (2007)
Conserved noncoding genomic sequences associated with a flowering-time quantitative trait locus in m[...]
1 Additional References
GP00000951
RAP2-7
Q9SK03
Physiology
2kb-sequence located 70kb upstream of the Vg1 transcription start site - insertion of a miniature transposon (MITE) belonging to the Tourist family
Zea mays
(species)
Zea mays
(species)
Rap2.7 (vgt1)
Zea mays
(species)
Published - Accepted by Curator
RAS2
Sporulation efficiency
Cis-regulatory,
Insertion
Saccharomyces cerevisiae
baker's yeast - (species) D
Domesticated
Linkage Mapping
Ben-Ari G; Zenvirth D; Sherman A ; et al. (2006)
Four linked genes participate in controlling sporulation efficiency in budding yeast.
GP00000956
RAS2
P01120
Physiology
1bp insertion in promoter
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
RAS2
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
RCO-A
Leaf shape (simplification)
Cis-regulatory,
Unknown
Capsella grandiflora
(species)
Interspecific
Linkage Mapping
Sicard A; Thamm A; Marona C ; et al. (2014)
Repeated evolutionary changes of leaf morphology caused by mutations to a homeobox gene.
GP00000961
RCO
A0A023NDU4
Morphology
Complex haplotype
Capsella rubella
(species)
Capsella grandiflora
(species)
RCO-A
Capsella grandiflora
(species)
Published - Accepted by Curator
REC8
Recombination rate (male)
Cis-regulatory,
SNP
Bos taurus
cattle - (species)
Domesticated
Linkage Mapping
Sandor C; Li W; Coppieters W ; et al. (2012)
Genetic variants in REC8, RNF212, and PRDM9 influence male recombination in cattle.
GP00001638
REC8
E1BL69
Physiology
A>G in intron 12 with reduction in Genome-wide recombination rate
Bos taurus
cattle - (species)
Bos taurus
cattle - (species)
REC8
Bos taurus
cattle - (species)
Published - Accepted by Curator
Rhg1
Pathogen resistance (cyst nematode)
Cis-regulatory,
Insertion
Glycine max
soybean - (species) D
Intraspecific
Linkage Mapping
Bayless AM; Zapotocny RW; Han S ; et al. (2019)
The rhg1-a (Rhg1 low-copy) nematode resistance source harbors a copia-family retrotransposon within [...]
GP00002049
rhg1s
Q8L3Y5
Physiology
insertion of a copia retrotransposon within the gene Rhg1 Glyma.18G022500 (α-SNAP-encoding). This transposable element is intact and resides within intron 1; anti-sense to the rhg1-a α-SNAP open reading frame.
Glycine max
soybean - (species)
Glycine max
soybean - (species) D
Rhg1
Glycine max
soybean - (species)
Published - Accepted by Curator
RHO2
Temperature tolerance / virulence
Cis-regulatory,
Unknown
Saccharomyces cerevisiae
baker's yeast - (species)
Intraspecific
Linkage Mapping
Steinmetz LM; Sinha H; Richards DR ; et al. (2002)
Dissecting the architecture of a quantitative trait locus in yeast.
1 Additional References
GP00000986
RHO2
P06781
Physiology
3'UTR polymorphism
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
RHO2
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
RME1
Sporulation efficiency
Cis-regulatory,
Deletion
Saccharomyces cerevisiae
baker's yeast - (species) D
Domesticated
Linkage Mapping
Deutschbauer AM; Davis RW (2005)
Quantitative trait loci mapped to single-nucleotide resolution in yeast.
GP00000994
RME1
P32338
Physiology
single nucleotide deletion in promoter region
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
RME1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
RME1 [possible pseudo-replicate of laboratory strain entry]
Sporulation efficiency
Cis-regulatory,
Deletion
Saccharomyces cerevisiae
baker's yeast - (species) D
Intraspecific
Linkage Mapping
Gerke J; Lorenz K; Cohen B (2009)
Genetic interactions between transcription factors cause natural variation in yeast.
GP00000995
RME1
P32338
Physiology
single nucleotide deletion in promoter region
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
RME1 [possible pseudo-replicate of laboratory strain entry]
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
RNF11
Body size (dwarfism)
Cis-regulatory,
Deletion
Bos taurus
cattle - (species) D
Domesticated
Association Mapping
Sartelet A; Druet T; Michaux C ; et al. (2012)
A splice site variant in the bovine RNF11 gene compromises growth and regulation of the inflammatory[...]
GP00002275
RNF11
Q9Y3C5
Morphology
g.95601696A>G c.124-2A>G affecting splicing site
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
RNF11
Bos taurus
cattle - (species)
Published - Accepted by Curator
Root System Architecture 1
Root growth (allometry of lateral roots)
Cis-regulatory,
SNP
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Association Mapping
Rosas U; Cibrian-Jaramillo A; Ristova D ; et al. (2013)
Integration of responses within and across Arabidopsis natural accessions uncovers loci controlling [...]
GP00001285
Root System Architecture 1
F4JL94
Morphology
348bp upstream of the 5'UTR
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
Root System Architecture 1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
ROSE INTENSITY1 (ROI1)
Coloration (flowers)
Cis-regulatory,
Unknown
Erythranthe lewisii
(species)
Interspecific
Linkage Mapping
Yuan YW; Sagawa JM; Young RC ; et al. (2013)
Genetic dissection of a major anthocyanin QTL contributing to pollinator-mediated reproductive isola[...]
GP00000996
ROI1
L7VK04
Morphology
unknown but coding variation was ruled out
Erythranthe lewisii
(species)
Erythranthe lewisii
(species)
ROSE INTENSITY1 (ROI1)
Erythranthe lewisii
(species)
Published - Accepted by Curator
RTA1
Xenobiotic resistance (citrinin)
Cis-regulatory,
Unknown
Saccharomyces paradoxus
(species) D
Domesticated
Association Mapping
Naranjo S; Smith JD; Artieri CG ; et al. (2015)
Dissecting the Genetic Basis of a Complex cis-Regulatory Adaptation.
GP00001312
RTA1
P53047
Physiology
unknown
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces paradoxus
(species) D
RTA1
Saccharomyces paradoxus
(species)
Published - Accepted by Curator
Ruby
Coloration (fruit; cold-dependent)
Cis-regulatory,
Insertion
Citrus sinensis
sweet orange - (species) D
Domesticated
Candidate Gene
Butelli E; Licciardello C; Zhang Y ; et al. (2012)
Retrotransposons control fruit-specific, cold-dependent accumulation of anthocyanins in blood orange[...]
GP00001017
Ruby
H6U1F1
Morphology
TE (Tcs2) insertion triggering cold-dependent expression
Citrus
(genus)
Citrus sinensis
sweet orange - (species) D
Ruby
Citrus sinensis
sweet orange - (species)
Published - Accepted by Curator
Ruby
Coloration (fruit; cold-dependent)
Cis-regulatory,
Insertion
Citrus sinensis
sweet orange - (species) D
Domesticated
Candidate Gene
Butelli E; Licciardello C; Zhang Y ; et al. (2012)
Retrotransposons control fruit-specific, cold-dependent accumulation of anthocyanins in blood orange[...]
GP00001018
Ruby
H6U1F1
Morphology
TE (Tcs1) insertion triggering cold-dependent expression
Citrus
(genus)
Citrus sinensis
sweet orange - (species) D
Ruby
Citrus sinensis
sweet orange - (species)
Published - Accepted by Curator
Ruby
Coloration (fruit; cold-dependent)
Cis-regulatory,
Deletion
Citrus sinensis
sweet orange - (species) D
Domesticated
Candidate Gene
Butelli E; Licciardello C; Zhang Y ; et al. (2012)
Retrotransposons control fruit-specific, cold-dependent accumulation of anthocyanins in blood orange[...]
GP00002106
Ruby
H6U1F1
Morphology
Recombination between the LTRs of the TE (Tcs1) insertion which led to just one LTR. The single LTR still confers responsiveness to cold temperatures. This recombination event results in enhanced expression of Ruby in Maro (I).
Citrus
(genus)
Citrus sinensis
sweet orange - (species) D
Ruby
Citrus sinensis
sweet orange - (species)
Published - Accepted by Curator
Rx1
Color vision (expression of SWS2b opsin)
Cis-regulatory,
Indel
Tramitichromis intermedius
(species)
Interspecific
Linkage Mapping
Schulte JE; O'Brien CS; Conte MA ; et al. (2014)
Interspecific variation in Rx1 expression controls opsin expression and causes visual system diversi[...]
GP00001441
rx1
O42356
Physiology
413bp deletion located 2.5-kb upstream of the Rx1 translation start site correlating with decreased Rx1 expression
Aulonocara baenschi
Nkhomo-benga peacock cichlid - (species)
Tramitichromis intermedius
(species)
Rx1
Tramitichromis intermedius
(species)
Published - Accepted by Curator
sage
Silk yield
Cis-regulatory,
Unknown
Bombyx mori
domestic silkworm - (species) D
Domesticated
Association Mapping
Xia Q; Guo Y; Zhang Z ; et al. (2009)
Complete resequencing of 40 genomes reveals domestication events and genes in silkworm (Bombyx).
GP00002410
sage
Q9VHG3
Physiology
Increased expression in high yield strains. The sage gene encodes a transcription factor that activates glue genes in salivary glands of Drosophila melanogaster.
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
sage
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
SAP (Sterile Apetala)
Petal size
Cis-regulatory,
SNP
Capsella rubella
(species) D
Interspecific
Linkage Mapping
Sicard A; Kappel C; Lee YW ; et al. (2016)
Standing genetic variation in a tissue-specific enhancer underlies selfing-syndrome evolution in Cap[...]
GP00001371
SAP
Q9FKH1
Morphology
5 SNP in intron in particular
Capsella grandiflora
(species)
Capsella rubella
(species) D
SAP (Sterile Apetala)
Capsella rubella
(species)
Published - Accepted by Curator
SAP-2
Xenobiotic resistance (insecticide; pyrethroid)
Cis-regulatory,
Unknown
Anopheles gambiae
African malaria mosquito - (species) D
Intraspecific
Association Mapping
Ingham VA; Anthousi A; Douris V ; et al. (2020)
A sensory appendage protein protects malaria vectors from pyrethroids.
GP00002432
SAP-2
Q6H8Z3
Physiology
The gene is highly overexpressed in the appendages of pyrethroid-resistant mosquitoes and its expression is further induced by insecticide exposure. Silencing of SAP2 almost completely restored susceptibility to the pyrethroid deltamethrin and also significantly increased the susceptibility to the other two pyrethroids (permethrin and alpha-cypermethrin).
Anopheles gambiae
African malaria mosquito - (species)
Anopheles gambiae
African malaria mosquito - (species) D
SAP-2
Anopheles gambiae
African malaria mosquito - (species)
Published - Accepted by Curator
SCARB1
Coloration (silk; carotenoids)
Cis-regulatory,
Unknown
Bombyx mori
domestic silkworm - (species) D
Domesticated
Linkage Mapping
Sakudoh T; Iizuka T; Narukawa J ; et al. (2010)
A CD36-related transmembrane protein is coordinated with an intracellular lipid-binding protein in s[...]
GP00001905
Cameo2
D2KXB3
Morphology
difference in expression levels - three non synonymous mutations are also observed in the coding region - the gene is also named Cameo2
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
SCARB1
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
SELF PRUNING 5G (SP5G)
Flowering time
Cis-regulatory,
Unknown
Solanum lycopersicum
tomato - (species)
Domesticated
Linkage Mapping
Soyk S; Müller NA; Park SJ ; et al. (2017)
Variation in the flowering gene SELF PRUNING 5G promotes day-neutrality and early yield in tomato.
GP00001564
SP5G
Q84XK9
Physiology
several candidate SNPs and structural variants
Solanum pimpinellifolium
(species)
Solanum lycopersicum
tomato - (species)
SELF PRUNING 5G (SP5G)
Solanum lycopersicum
tomato - (species)
Published - Accepted by Curator
shattering4 - sh4
Seed shattering
Cis-regulatory,
Unknown
Oryza glaberrima
African rice - (species) D
Domesticated
Association Mapping
Wang M; Yu Y; Haberer G ; et al. (2014)
The genome sequence of African rice (Oryza glaberrima) and evidence for independent domestication.
GP00001045
sh4
Q1PIH9
Physiology
several candidate mutations: ten SNPs and five small insertion/deletions leading to reduced expression
Oryza barthii
(species)
Oryza glaberrima
African rice - (species) D
shattering4 - sh4
Oryza glaberrima
African rice - (species)
Published - Accepted by Curator
shrunken-2 (Sh2) = endosperm ADP-glucose pyrophosphorylase large subunit
Feather
Cis-regulatory,
Insertion
Zea mays
(species) D
Domesticated
Linkage Mapping
Preiss J; Danner S; Summers PS ; et al. (1990)
Molecular Characterization of the Brittle-2 Gene Effect on Maize Endosperm ADPglucose Pyrophosphoryl[...]
1 Additional References
GP00001050
SH2
P55241
Physiology
insertion of the transposable element Dissociation
Zea mays
(species)
Zea mays
(species) D
shrunken-2 (Sh2) = endosperm ADP-glucose pyrophosphorylase large subunit
Zea mays
(species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (albinism)
Cis-regulatory,
Complex Change
Oryzias latipes
Japanese medaka - (species) D
Domesticated
Candidate Gene
Fukamachi S; Kinoshita M; Tsujimura T ; et al. (2008)
Rescue from oculocutaneous albinism type 4 using medaka slc45a2 cDNA driven by its own promoter.
GP00002287
SLC45A2
Q9UMX9
Morphology
Promoter complex change resulting in loss of expression : an inversion of 167 bp ; an insertion of 48 bp ; and a deletion of 172 bp
Oryzias latipes
Japanese medaka - (species)
Oryzias latipes
Japanese medaka - (species) D
SLC45A2=MATP
Oryzias latipes
Japanese medaka - (species)
Published - Accepted by Curator
SLCO1B3
Coloration (blue eggs)
Cis-regulatory,
Insertion
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Wang Z; Qu L; Yao J ; et al. (2013)
An EAV-HP insertion in 5' Flanking region of SLCO1B3 causes blue eggshell in the chicken.
GP00001064
SLCO1B3
Q9NPD5
Morphology
TE (EAV-HP) promoter insertion resulting in uterus expression
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
SLCO1B3
Gallus gallus
chicken - (species)
Published - Accepted by Curator
SLCO1B3
Coloration (blue eggs)
Cis-regulatory,
Insertion
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Wang Z; Qu L; Yao J ; et al. (2013)
An EAV-HP insertion in 5' Flanking region of SLCO1B3 causes blue eggshell in the chicken.
GP00001065
SLCO1B3
Q9NPD5
Morphology
TE (EAV-HP) promoter insertion resulting in uterus expression
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
SLCO1B3
Gallus gallus
chicken - (species)
Published - Accepted by Curator
slowpoke (slo)
Courtship song (sine song frequency)
Cis-regulatory,
Insertion
Drosophila simulans
(species) D
Intraspecific
Linkage Mapping
Ding Y; Berrocal A; Morita T ; et al. (2016)
Natural courtship song variation caused by an intronic retroelement in an ion channel gene.
GP00001066
slo
Q03720
Behavior
6.7kb "Shelder" retroelement insertion in slowpoke intron; with effect on splicing
Drosophila simulans
(species)
Drosophila simulans
(species) D
slowpoke (slo)
Drosophila simulans
(species)
Published - Accepted by Curator
SMAD family member 2 (SMAD2)
Body size (weight)
Cis-regulatory,
Deletion
Homo sapiens
human - (species) D
Domesticated
Association Mapping
Rimbault M; Beale HC; Schoenebeck JJ ; et al. (2013)
Derived variants at six genes explain nearly half of size reduction in dog breeds.
GP00001477
SMAD2
E2RP23
Morphology
9.9 kb deletion 24-kb dowstream from coding region
Canis lupus
gray wolf - (species)
Homo sapiens
human - (species) D
SMAD family member 2 (SMAD2)
Homo sapiens
human - (species)
Published - Accepted by Curator
SOX10
Coloration (feathers)
Cis-regulatory,
Deletion
Columba livia
rock pigeon - (species) D
Domesticated
Linkage Mapping
Domyan ET; Guernsey MW; Kronenberg Z ; et al. (2014)
Epistatic and combinatorial effects of pigmentary gene mutations in the domestic pigeon.
GP00001067
Sox10
Q04888
Morphology
melanocyte conserved enhancer deletion
Columba livia
rock pigeon - (species)
Columba livia
rock pigeon - (species) D
SOX10
Columba livia
rock pigeon - (species)
Published - Accepted by Curator
SOX10
Coloration (feathers)
Cis-regulatory,
Deletion
Columba livia
rock pigeon - (species) D
Domesticated
Linkage Mapping
Domyan ET; Guernsey MW; Kronenberg Z ; et al. (2014)
Epistatic and combinatorial effects of pigmentary gene mutations in the domestic pigeon.
GP00001068
Sox10
Q04888
Morphology
melanocyte conserved enhancer deletion
Columba livia
rock pigeon - (species)
Columba livia
rock pigeon - (species) D
SOX10
Columba livia
rock pigeon - (species)
Published - Accepted by Curator
SOX10
Coloration (feathers)
Cis-regulatory,
Deletion
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Gunnarsson U; Kerje S; Bed'hom B ; et al. (2011)
The Dark brown plumage color in chickens is caused by an 8.3-kb deletion upstream of SOX10.
1 Additional References
GP00001069
Sox10
Q04888
Morphology
8.3kb deletion upstream of the SOX10 transcription start site
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
SOX10
Gallus gallus
chicken - (species)
Published - Accepted by Curator
SOX5
Bird head comb (reduced comb and wattles)
Cis-regulatory,
Insertion
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Wright D; Boije H; Meadows JR ; et al. (2009)
Copy number variation in intron 1 of SOX5 causes the Pea-comb phenotype in chickens.
GP00001070
Sox5
P35710
Morphology
Copy Number Variation in Intron 1 - about 30 copies of a 3 kb sequence - corresponding to about 85 kb of extra sequence
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
SOX5
Gallus gallus
chicken - (species)
Published - Accepted by Curator
Sox5/6
Coloration (wing; mimicry)
Cis-regulatory,
Unknown
Hypolimnas misippus
(species)
Intraspecific
Association Mapping
VanKuren NW; Massardo D; Nallu S ; et al. (2019)
Butterfly Mimicry Polymorphisms Highlight Phylogenetic Limits of Gene Reuse in the Evolution of Dive[...]
GP00002429
Morphology
A 10 kb intergenic region located 48kb upstream of the Sox5/6 gene is strongly associated with the wing phenotype. This cis-regulatory change may also affect another neighboring gene, such as pink.
Hypolimnas misippus
(species)
Hypolimnas misippus
(species)
Sox5/6
Hypolimnas misippus
(species)
Published - Accepted by Curator
spineless (ss)
Color vision (eye; photoreceptor composition)
Cis-regulatory,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Anderson C; Reiss I; Zhou C ; et al. (2017)
Natural variation in stochastic photoreceptor specification and color preference in Drosophila.
GP00001987
ss
E1JIM6
Physiology
Single base insertion in the ss regulatory region upstream of the ss transcription start site. The insertion affects the stochastic on/off expression of the ss protein seen in the R7 photoreceptors: the presence of the insertion results in a significant decrease in the ratio of ss expressing to non-expressing R7 cells.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
spineless (ss)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
SPR
Coloration (ventral scales)
Cis-regulatory,
Unknown
Podarcis muralis
Common wall lizard - (species)
Intraspecific
Association Mapping
Andrade P; Pinho C; Pérez I de Lanuza G ; et al. (2019)
Regulatory changes in pterin and carotenoid genes underlie balanced color polymorphisms in the wall [...]
GP00002119
Spr
Q64105
Morphology
Podarcis muralis
Common wall lizard - (species)
Podarcis muralis
Common wall lizard - (species)
SPR
Podarcis muralis
Common wall lizard - (species)
Published - Accepted by Curator
srx-43
Pheromone response (ascaroside)
Cis-regulatory,
Unknown
Caenorhabditis elegans
(species) D
Intraspecific
Linkage Mapping
Greene JS; Brown M; Dobosiewicz M ; et al. (2016)
Balancing selection shapes density-dependent foraging behaviour.
1 Additional References
GP00001319
srx-43
O45767
Physiology
unknown
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
srx-43
Caenorhabditis elegans
(species)
Published - Accepted by Curator
srx-44
Pheromone response (ascaroside)
Cis-regulatory,
Unknown
Caenorhabditis elegans
(species) D
Intraspecific
Linkage Mapping
Greene JS; Dobosiewicz M; Butcher RA ; et al. (2016)
Regulatory changes in two chemoreceptor genes contribute to a Caenorhabditis elegans QTL for foragin[...]
1 Additional References
GP00001504
srx-43
O45767
Physiology
Phenotypic change mapped to a small region located between 34bp and 72 bp upstream of the srx-44 start codon. This DNA region contains 9 changes between N2 strain and MY14 strain.
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
srx-44
Caenorhabditis elegans
(species)
Published - Accepted by Curator
stanniocalcin 2 (STC2)
Body size (weight)
Cis-regulatory,
SNP
Homo sapiens
human - (species) D
Domesticated
Association Mapping
Rimbault M; Beale HC; Schoenebeck JJ ; et al. (2013)
Derived variants at six genes explain nearly half of size reduction in dog breeds.
GP00001478
STC2
O76061
Morphology
T>A 20-kb downstream from coding region
Canis lupus
gray wolf - (species)
Homo sapiens
human - (species) D
stanniocalcin 2 (STC2)
Homo sapiens
human - (species)
Published - Accepted by Curator
Style2.1
Flower morphology (style length)
Autogamy
Cis-regulatory,
Unknown
Solanum lycopersicum
tomato - (species) D
Domesticated
Linkage Mapping
Chen KY; Cong B; Wing R ; et al. (2007)
Changes in regulation of a transcription factor lead to autogamy in cultivated tomatoes.
GP00001081
100301942
B6CG44
Morphology
Physiology
Not identified
Solanum pennellii
(species)
Solanum lycopersicum
tomato - (species) D
Style2.1
Solanum lycopersicum
tomato - (species)
Published - Accepted by Curator
Svb/ovo
Trichome pattern (larva)
9 Mutations:
Cis-regulatory
Drosophila sechellia
(species) D
Interspecific
Linkage Mapping
McGregor AP; Orgogozo V; Delon I ; et al. (2007)
Morphological evolution through multiple cis-regulatory mutations at a single gene.
1 Additional References
GP00001085
ovo
P51521
Morphology
9 mutations
Drosophila simulans
(species)
Drosophila mauritiana
(species)
Drosophila sechellia
(species) D
Svb/ovo
Drosophila sechellia
(species)
Published - Accepted by Curator
Svb/ovo
Trichome pattern (larva)
Cis-regulatory,
Unknown
Drosophila ezoana
(species)
Interspecific
Candidate Gene
Frankel N; Wang S; Stern DL (2012)
Conserved regulatory architecture underlies parallel genetic changes and convergent phenotypic evolu[...]
1 Additional References
GP00001086
ovo
P51521
Morphology
unknown
virilis group
(species group)
Drosophila ezoana
(species)
Svb/ovo
Drosophila ezoana
(species)
Published - Accepted by Curator
SWS2
Xenobiotic resistance (alcohol, ethanol)
Cis-regulatory,
Unknown
Saccharomyces cerevisiae
baker's yeast - (species)
Domesticated
Linkage Mapping
Swinnen S; Schaerlaekens K; Pais T ; et al. (2012)
Identification of novel causative genes determining the complex trait of high ethanol tolerance in y[...]
GP00001088
SWS2
P53937
Physiology
unknown
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
SWS2
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
SWS2
Sporulation efficiency
Cis-regulatory,
Unknown
Saccharomyces cerevisiae
baker's yeast - (species)
Domesticated
Linkage Mapping
Ben-Ari G; Zenvirth D; Sherman A ; et al. (2006)
Four linked genes participate in controlling sporulation efficiency in budding yeast.
GP00001089
SWS2
P53937
Physiology
unknown
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
SWS2
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
syntaxin-17
Coloration (hair ; graying with age)
Cis-regulatory,
Insertion
Equus caballus
horse - (species) D
Domesticated
Association Mapping
Rosengren Pielberg G; Golovko A; Sundström E ; et al. (2008)
A cis-acting regulatory mutation causes premature hair graying and susceptibility to melanoma in the[...]
2 Additional References
GP00002272
STX17
P56962
Morphology
4.6-kb duplication in intron 6 of STX17 ; in transgenic zebrafish a construct containing two copies of the duplicated sequence acts as a strong enhancer in neural crest cells and has subsequent melanophore-specific activity whereas a single copy of the duplicated sequence acts as a weak enhancer - consistent with the phenotypic manifestation of the mutation in horses
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
syntaxin-17
Equus caballus
horse - (species)
Published - Accepted by Curator
syntaxin1a
Eusociality
Cis-regulatory,
Unknown
Lasioglossum albipes
(species) D
Intraspecific
Association Mapping
Kocher SD; Mallarino R; Rubin BER ; et al. (2018)
The genetic basis of a social polymorphism in halictid bees.
GP00002624
Syx1A
Q24547
Behavior
Increased expression in eusocial individuals compared to solitary individuals
Lasioglossum albipes
(species)
Lasioglossum albipes
(species) D
syntaxin1a
Lasioglossum albipes
(species)
Published - Accepted by Curator
T-box transcription factor (TBX3)
Coloration (coat)
Cis-regulatory,
SNP
Equus caballus
horse - (species) D
Intraspecific
Linkage Mapping
Imsland F; McGowan K; Rubin CJ ; et al. (2016)
Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation that underlies Dun camouflage colo[...]
GP00001461
TBX3
O15119
Morphology
G>T predicted to affect binding of the CCAT box-binding transcription factors NF-Y and NF-I ; Differs from the wild-type allele by a SNP downstream of the wild-type TBX3 sequence (located 1067bp downstream of the start of the larger nd2 deletion described in the nd2 entry) with allele nd1 = T compared with the wild-type D allele = G); an ancient variant
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
T-box transcription factor (TBX3)
Equus caballus
horse - (species)
Published - Accepted by Curator
T-box transcription factor (TBX3)
Coloration (coat)
Cis-regulatory,
Deletion
Equus caballus
horse - (species) D
Domesticated
Linkage Mapping
Imsland F; McGowan K; Rubin CJ ; et al. (2016)
Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation that underlies Dun camouflage colo[...]
GP00001462
TBX3
O15119
Morphology
missing sequence of nearly contiguous 1609bp and 8 bp segments
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
T-box transcription factor (TBX3)
Equus caballus
horse - (species)
Published - Accepted by Curator
tan
Coloration (abdomen; female)
Cis-regulatory,
Unknown
Drosophila erecta
(species) D
Intraspecific
Linkage Mapping
Yassin A; Bastide H; Chung H ; et al. (2016)
Ancient balancing selection at tan underlies female colour dimorphism in Drosophila erecta.
GP00001097
t
Q9W369
Morphology
exact causing mutation(s) unknown - the t_MSE enhancer from the dark allele drives higher levels of GFP expression in D. melanogaster than from the light allele
Drosophila erecta
(species)
Drosophila erecta
(species) D
tan
Drosophila erecta
(species)
Published - Accepted by Curator
tan
Coloration (abdomen)
Cis-regulatory,
Unknown
Drosophila novamexicana
(species) D
Intraspecific
Linkage Mapping
Wittkopp PJ; Stewart EE; Arnold LL ; et al. (2009)
Intraspecific polymorphism to interspecific divergence: genetics of pigmentation in Drosophila.
GP00001098
t
Q9W369
Morphology
2.7kb non-coding interval; 13 SNPs + 2 indels differing between species
Drosophila americana
(species)
Drosophila novamexicana
(species) D
tan
Drosophila novamexicana
(species)
Published - Accepted by Curator
tan
Coloration (abdomen; male)
2 Mutations:
Cis-regulatory
SNP
Drosophila santomea
(species) D
Interspecific
Linkage Mapping
Jeong S; Rebeiz M; Andolfatto P ; et al. (2008)
The evolution of gene regulation underlies a morphological difference between two Drosophila sister [...]
1 Additional References
GP00001099
t
Q9W369
Morphology
2 mutations
Drosophila yakuba
(species)
Drosophila santomea
(species) D
tan
Drosophila santomea
(species)
Published - Accepted by Curator
tan
Coloration (abdomen; male)
Cis-regulatory,
Deletion
Drosophila santomea
(species) D
Interspecific
Linkage Mapping
Jeong S; Rebeiz M; Andolfatto P ; et al. (2008)
The evolution of gene regulation underlies a morphological difference between two Drosophila sister [...]
1 Additional References
GP00001100
t
Q9W369
Morphology
san MSE del30 (30bp deletion)
Drosophila yakuba
(species)
Drosophila santomea
(species) D
tan
Drosophila santomea
(species)
Published - Accepted by Curator
tan
Coloration (abdomen; male)
Cis-regulatory,
Deletion
Drosophila santomea
(species) D
Interspecific
Linkage Mapping
Jeong S; Rebeiz M; Andolfatto P ; et al. (2008)
The evolution of gene regulation underlies a morphological difference between two Drosophila sister [...]
1 Additional References
GP00001101
t
Q9W369
Morphology
san MSE del212 (212bp deletion)
Drosophila yakuba
(species)
Drosophila santomea
(species) D
tan
Drosophila santomea
(species)
Published - Accepted by Curator
tan
Coloration (thorax; abdomen; trident)
Cis-regulatory,
Unknown
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Association Mapping
Bastide H; Betancourt A; Nolte V ; et al. (2013)
A genome-wide, fine-scale map of natural pigmentation variation in Drosophila melanogaster.
3 Additional References
GP00002622
t
Q9W369
Morphology
exact causing mutation(s) unknown
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
tan
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
TAO3
Sporulation efficiency
Cis-regulatory,
SNP
Saccharomyces cerevisiae
baker's yeast - (species)
Domesticated
Linkage Mapping
Deutschbauer AM; Davis RW (2005)
Quantitative trait loci mapped to single-nucleotide resolution in yeast.
GP00001103
TAO3
P40468
Physiology
E1493Q
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
TAO3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
tartan
Organ size (genitalia; clasper)
Bristle number (genitalia; clasper)
Cis-regulatory,
Unknown
Drosophila mauritiana
(species) D
Interspecific
Linkage Mapping
Hagen JFD; Mendes CC; Blogg A ; et al. (2019)
tartan underlies the evolution of Drosophila male genital morphology.
GP00002047
trn
Q9VU51
Morphology
Morphology
no coding changes
Drosophila simulans
(species)
Drosophila mauritiana
(species) D
tartan
Drosophila mauritiana
(species)
Published - Accepted by Curator
TBX15
Ear shape
Cis-regulatory,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Adhikari K; Reales G; Smith AJ ; et al. (2015)
A genome-wide association study identifies multiple loci for variation in human ear morphology.
GP00001113
TBX15
Q96SF7
Morphology
Tbx15 enhancer variation including rs17023457 T or C alleles that affect CART1 binding on a conserved site
Homo sapiens
human - (species)
Homo sapiens
human - (species)
TBX15
Homo sapiens
human - (species)
Published - Accepted by Curator
Tbx5
Limb Identity (feathered feet)
Cis-regulatory,
Unknown
Columba livia
rock pigeon - (species) D
Domesticated
Linkage Mapping
Domyan ET; Kronenberg Z; Infante CR ; et al. (2016)
Molecular shifts in limb identity underlie development of feathered feet in two domestic avian speci[...]
GP00001114
TBX5
Q9PWE8
Morphology
unknown
Columba livia
rock pigeon - (species)
Columba livia
rock pigeon - (species) D
Tbx5
Columba livia
rock pigeon - (species)
Published - Accepted by Curator
teosinte branched 1 (tb1)
Plant architecture
Inflorescence architecture
Cis-regulatory,
Insertion
Zea mays
(species) D
Domesticated
Linkage Mapping
Clark RM; Wagler TN; Quijada P ; et al. (2006)
A distant upstream enhancer at the maize domestication gene tb1 has pleiotropic effects on plant and[...]
2 Additional References
GP00001116
TB1
Q93WI2
Morphology
Morphology
Hopscotch TE insertion
Zea mays
(species)
Zea mays
(species) D
teosinte branched 1 (tb1)
Zea mays
(species)
Published - Accepted by Curator
TFL1/FvTFL1
Flowering time
Seasonal growth
Cis-regulatory,
Unknown
Fragaria vesca
wild strawberry - (species)
Intraspecific
Linkage Mapping
Koskela EA; Mouhu K; Albani MC ; et al. (2012)
Mutation in TERMINAL FLOWER1 reverses the photoperiodic requirement for flowering in the wild strawb[...]
GP00001120
TFL1
P93003
Physiology
Physiology
unknown
Fragaria vesca
wild strawberry - (species)
Fragaria vesca
wild strawberry - (species)
TFL1/FvTFL1
Fragaria vesca
wild strawberry - (species)
Published - Accepted by Curator
thyroid-stimulating hormone-beta-2
Metabolic rate
Thyroid Hormone (plasma concentration)
Cis-regulatory,
Unknown
Gasterosteus aculeatus
three-spined stickleback - (species) D
Intraspecific
Candidate Gene
Kitano J; Lema SC; Luckenbach JA ; et al. (2010)
Adaptive divergence in the thyroid hormone signaling pathway in the stickleback radiation.
GP00001288
tshba
B3DJU0
Physiology
Physiology
unknown
Gasterosteus aculeatus
three-spined stickleback - (species)
Gasterosteus aculeatus
three-spined stickleback - (species) D
thyroid-stimulating hormone-beta-2
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
tra-2
Fertility (self-fertility; hermaphrodite spermatogenesis)
Cis-regulatory,
Insertion
Caenorhabditis elegans
(species)
Interspecific
Candidate Gene
Kuwabara PE (1996)
Interspecies comparison reveals evolution of control regions in the nematode sex-determining gene tr[...]
2 Additional References
GP00001132
tra-2
P34709
Physiology
Tandem duplication of GLD-1 binding sites in 3'UTR; see also fog-2 entry
Caenorhabditis briggsae
(species)
Caenorhabditis elegans
(species)
tra-2
Caenorhabditis elegans
(species)
Published - Accepted by Curator
trehalase
Coloration (wing; seasonal)
Cis-regulatory,
Unknown
Junonia coenia
buckeye - (species) D
Experimental Evolution
Association Mapping
van der Burg KRL; Lewis JJ; Brack BJ ; et al. (2020)
Genomic architecture of a genetically assimilated seasonal color pattern.
GP00002421
Treh
Q9W2M2
Morphology
Increased expression of the trehalase gene in the Red line. No variation in coding region. Strong association with cis-regulatory SNP.
Junonia coenia
buckeye - (species)
Junonia coenia
buckeye - (species) D
trehalase
Junonia coenia
buckeye - (species)
Published - Accepted by Curator
Tret1-like
Diapause
Cis-regulatory,
Unknown
Bombyx mori
domestic silkworm - (species) D
Domesticated
Association Mapping
Tong X; Han MJ; Lu K ; et al. (2022)
High-resolution silkworm pan-genome provides genetic insights into artificial selection and ecologic[...]
GP00002402
Tret1-1
A1Z8N1
Physiology
The expression level of BmTret1-like in homozygotes (pnd/pnd) is significantly lower (p < 0.01, t test) than that in heterozygotes (pnd/+). CRISPR BmTret1-like knockout lines generate non-diapause eggs. A 747 bp deletion is present in the 3′-untranslated region (3′-UTR) of BmTret1-like in pnd homozygotes
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
Tret1-like
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
TRPM1
Coloration (coat)
Cis-regulatory,
Insertion
Equus caballus
horse - (species) D
Intraspecific
Linkage Mapping
Bellone RR; Forsyth G; Leeb T ; et al. (2010)
Fine-mapping and mutation analysis of TRPM1: a candidate gene for leopard complex (LP) spotting and [...]
3 Additional References
GP00001140
TRPM1
Q7Z4N2
Morphology
a 1378 bp retroviral LTR insertion in intron 1 of TRPM1
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
TRPM1
Equus caballus
horse - (species)
Published - Accepted by Curator
Twist2
Coloration (coat; white belt)
Cis-regulatory,
Insertion
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Awasthi Mishra N; Drögemüller C; Jagannathan V ; et al. (2017)
A structural variant in the 5'-flanking region of the TWIST2 gene affects melanocyte development in [...]
2 Additional References
GP00002035
Twist2
Q9D030
Morphology
quadruplication (CNV) of a 6 kb non-coding sequence located approximately 16 kb upstream of the TWIST2 gene
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Twist2
Bos taurus
cattle - (species)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (coat)
Cis-regulatory,
Insertion
N
Neovison vison
American mink - (species) D
Domesticated
Candidate Gene
Cirera S; Markakis MN; Kristiansen T ; et al. (2016)
A large insertion in intron 2 of the TYRP1 gene associated with American Palomino phenotype in Ameri[...]
GP00002241
Tyrp1
P07147
Morphology
Large insertion in intron 2 resulting in aberrant transcript N
Neovison vison
American mink - (species)
Neovison vison
American mink - (species) D
tyrosinase-related protein 1 (TYRP1)
Neovison vison
American mink - (species)
Published - Accepted by Curator
Tyrosine hydroxylase
Coloration (body)
Cis-regulatory,
Unknown
Bombyx mori
domestic silkworm - (species) D
Domesticated
Candidate Gene
Yu HS; Shen YH; Yuan GX ; et al. (2011)
Evidence of selection at melanin synthesis pathway loci during silkworm domestication.
GP00001158
ple
P18459
Morphology
Variation in intron; possibly loss of AbdA binding site
Bombyx mandarina
wild silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
Tyrosine hydroxylase
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
Ultrabithorax (Ubx)
Trichome pattern (leg)
Cis-regulatory,
Unknown
Drosophila simulans
(species)
Interspecific
Candidate Gene
Stern DL (1998)
A role of Ultrabithorax in morphological differences between Drosophila species.
GP00001161
Ubx
P83949
Morphology
Not identified
Drosophila melanogaster
fruit fly - (species)
Drosophila simulans
(species)
Ultrabithorax (Ubx)
Drosophila simulans
(species)
Published - Accepted by Curator
Unpaired-like
Wing shape (sex-specific)
Wing size
Cis-regulatory,
Unknown
Nasonia giraulti
(species)
Interspecific
Linkage Mapping
Loehlin DW; Werren JH (2012)
Evolution of shape by multiple regulatory changes to a growth gene.
GP00001163
upd1
O96525
Morphology
Morphology
three regions
Nasonia vitripennis
jewel wasp - (species)
Nasonia giraulti
(species)
Unpaired-like
Nasonia giraulti
(species)
Published - Accepted by Curator
Vertnin (VRTN)
Vertebrae number
Cis-regulatory,
Unknown
Sus scrofa domesticus
domestic pig - (subspecies)
Domesticated
Linkage Mapping
Mikawa S; Sato S; Nii M ; et al. (2011)
Identification of a second gene associated with variation in vertebral number in domestic pigs.
GP00001165
Vrtn
Q3SYK4
Morphology
unknown ; observed transposon insertion in intron and promoter variation
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies)
Vertnin (VRTN)
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
VRN1
Flowering time
Cis-regulatory,
Indel
Lolium perenne
(species)
Intraspecific
Candidate Gene
Asp T; Byrne S; Gundlach H ; et al. (2011)
Comparative sequence analysis of VRN1 alleles of Lolium perenne with the co-linear regions in barley[...]
GP00001183
VRN1
Q8L3W1
Physiology
8.6kb indel in first intron
Lolium perenne
(species)
Lolium perenne
(species)
VRN1
Lolium perenne
(species)
Published - Accepted by Curator
VRN1
Flowering time
Cis-regulatory,
Deletion
Triticum aestivum
bread wheat - (species) D
Domesticated
Linkage Mapping
Trevaskis B; Bagnall DJ; Ellis MH ; et al. (2003)
MADS box genes control vernalization-induced flowering in cereals.
GP00001184
VRN1
Q8L3W1
Physiology
Deletion
Triticum aestivum
bread wheat - (species)
Triticum aestivum
bread wheat - (species) D
VRN1
Triticum aestivum
bread wheat - (species)
Published - Accepted by Curator
VRN1
Flowering time
Cis-regulatory,
Unknown
Triticum monococcum
(species)
Domesticated
Linkage Mapping
Yan L; Loukoianov A; Tranquilli G ; et al. (2003)
Positional cloning of the wheat vernalization gene VRN1.
GP00001185
VRN1
Q8L3W1
Physiology
Not identified
Triticum monococcum
(species)
Triticum monococcum
(species)
VRN1
Triticum monococcum
(species)
Published - Accepted by Curator
VRN1
Flowering time
Cis-regulatory,
Insertion
Triticum turgidum
(species) D
Domesticated
Linkage Mapping
Chu CG; Tan CT; Yu GT ; et al. (2011)
A Novel Retrotransposon Inserted in the Dominant Vrn-B1 Allele Confers Spring Growth Habit in Tetrap[...]
GP00002105
VRN1
Q8L3W1
Physiology
5463-bp insertion in the 5'-UTR region of the Vrn-B1 allele. This insertion is a novel retrotransposon (designated as retrotrans_VRN), which is flanked by a 5-bp target site duplication and contains primer binding site and polypurine tract motifs; a 325-bp long terminal repeat and an open reading frame encoding 1231 amino acids. The insertion of retrotrans_VRN results in expression of Vrn-B1 without vernalization.
Triticum turgidum
(species)
Triticum turgidum
(species) D
VRN1
Triticum turgidum
(species)
Published - Accepted by Curator
VTE3(1)
Vitamin-E synthesis
Cis-regulatory,
Epigenetic Change
Solanum lycopersicum
tomato - (species)
Domesticated
Linkage Mapping
Quadrana L; Almeida J; Asís R ; et al. (2014)
Natural occurring epialleles determine vitamin E accumulation in tomato fruits.
GP00001684
VTE3
Q9LY74
Physiology
Solanum lycopersicum
tomato - (species)
Solanum lycopersicum
tomato - (species)
VTE3(1)
Solanum lycopersicum
tomato - (species)
Published - Accepted by Curator
VvMYBA1
Coloration (fruit)
Cis-regulatory,
Insertion
Vitis vinifera
wine grape - (species) D
Domesticated
Candidate Gene
Kobayashi S; Goto-Yamamoto N; Hirochika H (2004)
Retrotransposon-induced mutations in grape skin color.
GP00001192
VvmybA1
Q6L973
Morphology
Gret1 retrotransposon insertion
Vitis vinifera
wine grape - (species)
Vitis vinifera
wine grape - (species) D
VvMYBA1
Vitis vinifera
wine grape - (species)
Published - Accepted by Curator
VvMYBA1
Coloration (fruit)
Cis-regulatory,
Deletion
Vitis vinifera
wine grape - (species) D
Domesticated
Candidate Gene
Kobayashi S; Goto-Yamamoto N; Hirochika H (2004)
Retrotransposon-induced mutations in grape skin color.
1 Additional References
GP00001194
VvmybA1
Q6L973
Morphology
Gret1 retrotransposon deletion; leaving behind its 3'-LTR flanked by 5 bp of a duplicated target site
Vitis vinifera
wine grape - (species)
Vitis vinifera
wine grape - (species) D
VvMYBA1
Vitis vinifera
wine grape - (species)
Published - Accepted by Curator
VvMYBA1
Coloration (fruit)
Cis-regulatory,
Deletion
Vitis vinifera
wine grape - (species) D
Domesticated
Candidate Gene
Ferreira V; Matus JT; Pinto-Carnide O ; et al. (2019)
Genetic analysis of a white-to-red berry skin color reversion and its transcriptomic and metabolic c[...]
GP00002096
VvmybA1
Q6L973
Morphology
partial excision of the Gret1 retrotransposon from the promoter region of the MYBA1 anthocyanin regulator - associated with white-to-red berry skin color reversion
Vitis vinifera
wine grape - (species)
Vitis vinifera
wine grape - (species) D
VvMYBA1
Vitis vinifera
wine grape - (species)
Published - Accepted by Curator
VvMYBA1
Coloration (fruit)
Cis-regulatory,
Insertion
Vitis vinifera
wine grape - (species) D
Domesticated
Candidate Gene
Shimazaki M; Fujita K; Kobayashi H ; et al. (2011)
Pink-colored grape berry is the result of short insertion in intron of color regulatory gene.
GP00002097
VvmybA1
Q6L973
Morphology
33 bp insertion in the second intron of the MYBA1 red allele which affects messenger RNA (mRNA) stability - 16 bp of the 3' end in the insertion is a key structure for a defect in splicing of MybA1 transcripts
Vitis vinifera
wine grape - (species)
Vitis vinifera
wine grape - (species) D
VvMYBA1
Vitis vinifera
wine grape - (species)
Published - Accepted by Curator
VvMYBA3
Coloration (fruit)
Cis-regulatory,
SNP
Vitis vinifera
wine grape - (species)
Domesticated
Linkage Mapping
Fournier-Level A; Le Cunff L; Gomez C ; et al. (2009)
Quantitative genetic bases of anthocyanin variation in grape (Vitis vinifera L. ssp. sativa) berry: [...]
GP00001196
VvmybA3
Q6L9M7
Morphology
Substitution in promoter
Vitis vinifera
wine grape - (species)
Vitis vinifera
wine grape - (species)
VvMYBA3
Vitis vinifera
wine grape - (species)
Published - Accepted by Curator
Waxy /GBSS
Amylose content
Cis-regulatory,
Deletion
Hordeum vulgare
(species) D
Domesticated
Linkage Mapping
Domon E; Fuijita M; Ishikawa N (2002)
The insertion/deletion polymorphisms in the waxy gene of barley genetic resources from East Asia.
GP00001197
waxy
Q8L699
Physiology
403-bp deletion spanning from position –129 bp to position +274 relative to the deduced starting point of transcription in the barley waxy gene and
Hordeum vulgare
(species)
Hordeum vulgare
(species) D
Waxy /GBSS
Hordeum vulgare
(species)
Published - Accepted by Curator
Waxy /GBSS
Amylose content
Cis-regulatory,
Insertion
Setaria italica
foxtail millet - (species) D
Domesticated
Candidate Gene
Kawase M; Fukunaga K; Kato K (2005)
Diverse origins of waxy foxtail millet crops in East and Southeast Asia mediated by multiple transpo[...]
GP00001198
waxy
Q8L699
Physiology
Transposon insertion TSI-11 (Intron 12)
Setaria italica
foxtail millet - (species)
Setaria italica
foxtail millet - (species) D
Waxy /GBSS
Setaria italica
foxtail millet - (species)
Published - Accepted by Curator
Waxy /GBSS
Amylose content
Cis-regulatory,
Insertion
Setaria italica
foxtail millet - (species) D
Domesticated
Linkage Mapping
Kawase M; Fukunaga K; Kato K (2005)
Diverse origins of waxy foxtail millet crops in East and Southeast Asia mediated by multiple transpo[...]
GP00001199
waxy
Q8L699
Physiology
Transposon insertion TSI-2 (intron 1)
Setaria italica
foxtail millet - (species)
Setaria italica
foxtail millet - (species) D
Waxy /GBSS
Setaria italica
foxtail millet - (species)
Published - Accepted by Curator
Waxy /GBSS
Amylose content
Cis-regulatory,
Insertion
Setaria italica
foxtail millet - (species) D
Domesticated
Candidate Gene
Kawase M; Fukunaga K; Kato K (2005)
Diverse origins of waxy foxtail millet crops in East and Southeast Asia mediated by multiple transpo[...]
GP00001200
waxy
Q8L699
Physiology
Transposon insertion TSI-10 (Intron 12)
Setaria italica
foxtail millet - (species)
Setaria italica
foxtail millet - (species) D
Waxy /GBSS
Setaria italica
foxtail millet - (species)
Published - Accepted by Curator
Waxy /GBSS
Amylose content
Cis-regulatory,
Deletion
Setaria italica
foxtail millet - (species) D
Domesticated
Candidate Gene
Kawase M; Fukunaga K; Kato K (2005)
Diverse origins of waxy foxtail millet crops in East and Southeast Asia mediated by multiple transpo[...]
GP00001203
waxy
Q8L699
Physiology
2.4kb deletion (intron 1)
Setaria italica
foxtail millet - (species)
Setaria italica
foxtail millet - (species) D
Waxy /GBSS
Setaria italica
foxtail millet - (species)
Published - Accepted by Curator
wingless (wg)
Coloration (wing)
3 Mutations:
Cis-regulatory
Unknown
Drosophila guttifera
(species) D
Interspecific
Candidate Gene
Koshikawa S; Giorgianni MW; Vaccaro K ; et al. (2015)
Gain of cis-regulatory activities underlies novel domains of wingless gene expression in Drosophila.
1 Additional References
GP00001384
wg
P09615
Morphology
3 mutations
Drosophila melanogaster
fruit fly - (species)
Drosophila guttifera
(species) D
wingless (wg)
Drosophila guttifera
(species)
Published - Accepted by Curator
Wnt receptor
Fin morphology (skeleton; dorsal fin)
Cis-regulatory,
Unknown
Carassius auratus
goldfish - (species) D
Domesticated
Association Mapping
Kon T; Omori Y; Fukuta K ; et al. (2020)
The Genetic Basis of Morphological Diversity in Domesticated Goldfish.
GP00002347
Lrp6
O88572
Morphology
Lrp6 gene expression is reduced in goldfish with the dorsal fin loss phenotype. Only four amino acid substitutions in the coding region and all of them are conserved or semi-conserved in zebrafish or medaka lrp6 orthologs. There is a 313-bp deletion in intron 21 of lrp6S in goldfish with the dorsal fin loss phenotype. This intronic deletion may affect induction and proper production of lrp6S mRNA at embryonic stages.
Carassius auratus
goldfish - (species)
Carassius auratus
goldfish - (species) D
Wnt receptor
Carassius auratus
goldfish - (species)
Published - Accepted by Curator
Wnt1
Coloration (larval color pattern)
Cis-regulatory,
Complex Change
Bombyx mori
domestic silkworm - (species) D
Domesticated
Linkage Mapping
Yamaguchi J; Banno Y; Mita K ; et al. (2013)
Periodic Wnt1 expression in response to ecdysteroid generates twin-spot markings on caterpillars.
2 Additional References
GP00001385
wg
P09615
Morphology
Fine-resolution mapping of a 34kb regulatory region driving Ecdysteroid-dependent Wnt gain-of-function. The L-specific structural variations upstream of Wnt1-1 may cause its ectopic expression in the spot marking region of the epidermis, resulting in the L phenotype.
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
Wnt1
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
Wnt1
Coloration (larval color pattern)
Cis-regulatory,
Deletion
Bombyx mori
domestic silkworm - (species) D
Domesticated
Association Mapping
Tong X; Han MJ; Lu K ; et al. (2022)
High-resolution silkworm pan-genome provides genetic insights into artificial selection and ecologic[...]
GP00002403
wg
P09615
Morphology
A specific large deletion (271 kb) is present in the 3′-flanking region of Wnt1. Wnt1 expression is significantly higher in the epidermis of heterozygous LC (LC/+) mutants than in normal strains (+/+).
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
Wnt1
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
WntA
Coloration (wing, Mullerian mimicry)
Cis-regulatory,
Unknown
Heliconius erato
crimson-patched longwing - (species)
Intraspecific
Association Mapping
Martin A; Papa R; Nadeau NJ ; et al. (2012)
Diversification of complex butterfly wing patterns by repeated regulatory evolution of a Wnt ligand.
GP00001205
WntA
A0A077DF90
Morphology
unknown
Heliconius erato
crimson-patched longwing - (species)
Heliconius erato
crimson-patched longwing - (species)
WntA
Heliconius erato
crimson-patched longwing - (species)
Published - Accepted by Curator
WntA
Coloration (wing, Mullerian mimicry)
Cis-regulatory,
Unknown
Heliconius hecale
(species)
Intraspecific
Linkage Mapping
Martin A; Papa R; Nadeau NJ ; et al. (2012)
Diversification of complex butterfly wing patterns by repeated regulatory evolution of a Wnt ligand.
GP00001206
WntA
A0A077DF90
Morphology
unknown
Heliconius hecale
(species)
Heliconius hecale
(species)
WntA
Heliconius hecale
(species)
Published - Accepted by Curator
WntA
Coloration (wing, Mullerian mimicry)
Cis-regulatory,
Unknown
Heliconius ismenius
(species)
Intraspecific
Linkage Mapping
Martin A; Papa R; Nadeau NJ ; et al. (2012)
Diversification of complex butterfly wing patterns by repeated regulatory evolution of a Wnt ligand.
GP00001207
WntA
A0A077DF90
Morphology
unknown
Heliconius ismenius
(species)
Heliconius ismenius
(species)
WntA
Heliconius ismenius
(species)
Published - Accepted by Curator
WntA
Coloration (wing; Batesian mimicry)
Cis-regulatory,
Unknown
Limenitis arthemis
white admiral - (species)
Intraspecific
Linkage Mapping
Gallant JR; Imhoff VE; Martin A ; et al. (2014)
Ancient homology underlies adaptive mimetic diversity across butterflies.
GP00001208
WntA
A0A077DF90
Morphology
Complex Haplotype in first intron perfectly associated with phenotype: 173 fixed single-nucleotide polymorphisms (SNPs) in complete linkage disequilibrium (LD) located 23
Limenitis arthemis
white admiral - (species)
Limenitis arthemis
white admiral - (species)
WntA
Limenitis arthemis
white admiral - (species)
Published - Accepted by Curator
WntA
Coloration (wing, Mullerian mimicry)
Cis-regulatory,
Indel
Heliconius cydno
(species)
Intraspecific
Linkage Mapping
Gallant JR; Imhoff VE; Martin A ; et al. (2014)
Ancient homology underlies adaptive mimetic diversity across butterflies.
1 Additional References
GP00001209
WntA
A0A077DF90
Morphology
1.8-kb indel that was perfectly associated with variation in forewing melanin patterning
Heliconius cydno
(species)
Heliconius cydno
(species)
WntA
Heliconius cydno
(species)
Published - Accepted by Curator
WntA
Coloration (wing, Mullerian mimicry)
Cis-regulatory,
Unknown
Heliconius pachinus
(species)
Intraspecific
Linkage Mapping
Martin A; Papa R; Nadeau NJ ; et al. (2012)
Diversification of complex butterfly wing patterns by repeated regulatory evolution of a Wnt ligand.
1 Additional References
GP00001210
WntA
A0A077DF90
Morphology
Complex cis-regulatory haplotype : 170 fixed differences were detected among comparisons of allopatric H. c. galanthus and H. pachinus
Heliconius cydno
(species)
Heliconius pachinus
(species)
WntA
Heliconius pachinus
(species)
Published - Accepted by Curator
WntA
Coloration (wing, Mullerian mimicry)
Cis-regulatory,
Unknown
Heliconius erato
crimson-patched longwing - (species)
Intraspecific
Linkage Mapping
Martin A; Papa R; Nadeau NJ ; et al. (2012)
Diversification of complex butterfly wing patterns by repeated regulatory evolution of a Wnt ligand.
GP00001211
WntA
A0A077DF90
Morphology
Not identified
Heliconius himera
(species)
Heliconius erato
crimson-patched longwing - (species)
WntA
Heliconius erato
crimson-patched longwing - (species)
Published - Accepted by Curator
WntA
Coloration (wing, Mullerian mimicry)
Cis-regulatory,
Unknown
Heliconius erato
crimson-patched longwing - (species)
Intraspecific
Linkage Mapping
Martin A; Papa R; Nadeau NJ ; et al. (2012)
Diversification of complex butterfly wing patterns by repeated regulatory evolution of a Wnt ligand.
GP00001212
WntA
A0A077DF90
Morphology
Not identified
Heliconius himera
(species)
Heliconius erato
crimson-patched longwing - (species)
WntA
Heliconius erato
crimson-patched longwing - (species)
Published - Accepted by Curator
WntA
Coloration (wing, Mullerian mimicry)
Cis-regulatory,
Unknown
Heliconius erato
crimson-patched longwing - (species)
Intraspecific
Linkage Mapping
Martin A; Papa R; Nadeau NJ ; et al. (2012)
Diversification of complex butterfly wing patterns by repeated regulatory evolution of a Wnt ligand.
GP00001213
WntA
A0A077DF90
Morphology
Not identified
Heliconius himera
(species)
Heliconius erato
crimson-patched longwing - (species)
WntA
Heliconius erato
crimson-patched longwing - (species)
Published - Accepted by Curator
WntA
Coloration (wing, Mullerian mimicry)
Cis-regulatory,
Unknown
Heliconius melpomene
postman butterfly - (species)
Intraspecific
Linkage Mapping
Martin A; Papa R; Nadeau NJ ; et al. (2012)
Diversification of complex butterfly wing patterns by repeated regulatory evolution of a Wnt ligand.
GP00001214
WntA
A0A077DF90
Morphology
unknown ; non-coding with effect on spatial gene expression
Heliconius melpomene
postman butterfly - (species)
Heliconius melpomene
postman butterfly - (species)
WntA
Heliconius melpomene
postman butterfly - (species)
Published - Accepted by Curator
yellow
Coloration (abdomen)
Cis-regulatory,
Unknown
Drosophila kikkawai
(species)
Interspecific
Candidate Gene
Jeong S; Rokas A; Carroll SB (2006)
Regulation of body pigmentation by the Abdominal-B Hox protein and its gain and loss in Drosophila e[...]
GP00001220
y
P09957
Morphology
indel and/or SNP located within a cis-regulatory element
Drosophila melanogaster
fruit fly - (species)
Drosophila kikkawai
(species)
yellow
Drosophila kikkawai
(species)
Published - Accepted by Curator
yellow
Coloration (wing spot)
Cis-regulatory,
SNP
Drosophila gunungcola
(species)
Interspecific
Candidate Gene
Prud'homme B; Gompel N; Rokas A ; et al. (2006)
Repeated morphological evolution through cis-regulatory changes in a pleiotropic gene.
1 Additional References
GP00001221
y
P09957
Morphology
within a 740bp-element; at least two and no more than seven point mutations involved
Drosophila elegans
(species)
Drosophila gunungcola
(species)
yellow
Drosophila gunungcola
(species)
Published - Accepted by Curator
yellow
Coloration (wing spot)
Cis-regulatory,
Unknown
Drosophila biarmipes
(species) D
Interspecific
Candidate Gene
Gompel N; Prud'homme B; Wittkopp PJ ; et al. (2005)
Chance caught on the wing: cis-regulatory evolution and the origin of pigment patterns in Drosophila[...]
GP00001222
y
P09957
Morphology
wing spot activator element; within a 196bp fragment; sequences required for activation in the spot are located within or overlap with bp 425-453
Drosophila
(subgenus)
Drosophila biarmipes
(species) D
yellow
Drosophila biarmipes
(species)
Published - Accepted by Curator
yellow
Coloration (wing spot)
Cis-regulatory,
Unknown
Drosophila biarmipes
(species) D
Interspecific
Candidate Gene
Gompel N; Prud'homme B; Wittkopp PJ ; et al. (2005)
Chance caught on the wing: cis-regulatory evolution and the origin of pigment patterns in Drosophila[...]
GP00001223
y
P09957
Morphology
wing spot repressor element; within a 675-bp fragment;
Drosophila
(subgenus)
Drosophila biarmipes
(species) D
yellow
Drosophila biarmipes
(species)
Published - Accepted by Curator
yellow
Coloration (wing spot)
Cis-regulatory,
Unknown
Drosophila mimetica
(species)
Interspecific
Candidate Gene
Prud'homme B; Gompel N; Rokas A ; et al. (2006)
Repeated morphological evolution through cis-regulatory changes in a pleiotropic gene.
GP00001224
y
P09957
Morphology
within a 740bp-element
Drosophila
(subgenus)
Drosophila mimetica
(species)
yellow
Drosophila mimetica
(species)
Published - Accepted by Curator
yellow
Coloration (wing spot)
Cis-regulatory,
Unknown
Drosophila tristis
(species)
Interspecific
Candidate Gene
Prud'homme B; Gompel N; Rokas A ; et al. (2006)
Repeated morphological evolution through cis-regulatory changes in a pleiotropic gene.
GP00001225
y
P09957
Morphology
within a 927 bp-element
Drosophila
(subgenus)
Drosophila tristis
(species)
yellow
Drosophila tristis
(species)
Published - Accepted by Curator
yellow
Coloration (body; wing)
Cis-regulatory,
Inversion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Zakharenko LP; p6acheva EM; Romanova OA ; et al. (2000)
hobo-induced rearrangements are responsible for mutation bursts at the yellow locus in a natural pop[...]
GP00001961
y
P09957
Morphology
y[2-717] - Inversion that occurred between two hobo elements: one located 129 bp from the start site of yellow transcription and the other in the distal telomere region. The yellow phenotype is caused by the separation of the body and wing enhancers from the transcription unit.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
yellow
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
yellow
Coloration (abdomen; male)
Cis-regulatory,
Unknown
Drosophila santomea
(species) D
Interspecific
Linkage Mapping
Liu Y; Ramos-Womack M; Han C ; et al. (2019)
Changes throughout a Genetic Network Mask the Contribution of Hox Gene Evolution.
GP00002023
y
P09957
Morphology
change in a cis-regulatory region - exact causing mutation(s) unknown - decreased yellow abdominal expression associated with lighter color
Drosophila yakuba
(species)
Drosophila santomea
(species) D
yellow
Drosophila santomea
(species)
Published - Accepted by Curator
yellow
Coloration (wing)
Cis-regulatory,
Unknown
Danaus chrysippus
African queen - (species)
Intraspecific
Association Mapping
Martin SH; Singh KS; Gordon IJ ; et al. (2020)
Whole-chromosome hitchhiking driven by a male-killing endosymbiont.
GP00002430
y
P09957
Morphology
A cluster of SNPs most strongly associated with background colour (B locus) is found just upstream of the gene yellow and a phylogenetic network for a 30-kb region around yellow groups individuals nearly perfectly by phenotype; although some individuals classed as heterozygous were intermingled with homozygotes.
Danaus chrysippus
African queen - (species)
Danaus chrysippus
African queen - (species)
yellow
Danaus chrysippus
African queen - (species)
Published - Accepted by Curator
zeb1a
Coloration (fish fins)
Cis-regulatory,
SNP
Tropheops sp. 'red cheek'
(species)
Interspecific
Linkage Mapping
Albertson RC; Powder KE; Hu Y ; et al. (2014)
Genetic basis of continuous variation in the levels and modular inheritance of pigmentation in cichl[...]
GP00001418
zeb1a
F1QMZ5
Morphology
intronic SNP
Labeotropheus fuelleborni
blue mbuna - (species)
Tropheops sp. 'red cheek'
(species)
zeb1a
Tropheops sp. 'red cheek'
(species)
Published - Accepted by Curator
zic1/zic4
Fin morphology (skeleton; dorsal fin; caudal fin)
Pigmentation (ventralized trunk)
Cis-regulatory,
Insertion
Oryzias latipes
Japanese medaka - (species) D
Intraspecific
Linkage Mapping
Moriyama Y; Kawanishi T; Nakamura R ; et al. (2012)
The medaka zic1/zic4 mutant provides molecular insights into teleost caudal fin evolution.
1 Additional References
GP00002038
Zic1
P46684
Morphology
Morphology
The mutant phenotype is caused by a dramatic decrease of zic1/zic4 expression in the dorsal somites. The insertion of a transposon (“Albatross”) into an enhancer region (downstream of zic4) of the transcription factors zic1 and zic4 causes this phenotype. Both genes are expressed by a bi-directional promoter. The transposon insertion is proposed to interfere with the transcriptional regulation of zic1/zic4; resulting in the disturbance of the expression of the transcription factors in the dorsal somites (the expression of zic1/zic4 in other parts of the body is not affected in this mutant) and ultimately causing a ventralized trunk phenotype. In Inoue et al. (2017) it was shown that the transposon “Albatross” is actually larger than originally predicted; and is now called “Teratorn”. Teratorn is around 180kb long and appears to originate from the fusion of a DNA transposon and a herpesvirus.
Oryzias latipes
Japanese medaka - (species)
Oryzias latipes
Japanese medaka - (species) D
zic1/zic4
Oryzias latipes
Japanese medaka - (species)
Published - Accepted by Curator
zic1/zic4
Fin morphology (skeleton; caudal fin)
Cis-regulatory,
Deletion
Betta splendens
Siamese fighting fish - (species) D
Domesticated
Linkage Mapping
Wang L; Sun F; Wan ZY ; et al. (2021)
Genomic Basis of Striking Fin Shapes and Colors in the Fighting Fish.
GP00002385
Zic1
P46684
Morphology
"We further sequenced the genomes of both homozygous single- and double-tail fish and found in double tail no large sequence variation except for a ∼180-bp deletion ∼15-kb downstream of zic4 (fig. 4C and supplementary fig. S19a, Supplementary Material online). This deletion was located in a cluster of CNEs and coincided with predicted CNE.006008 (supplementary fig. S19b, Supplementary Material online)."
"We observed that the wild-type ST allele significantly enhanced green fluorescent protein (GFP) expression in embryos at 24 hpf, when both zic1 and zic4 show differential expression between double-tail and wild-type fish (Moriyama et al. 2012), whereas no visible GFP expression was detected for the st allele (fig. 4E and supplementary table S11, Supplementary Material online). The efficiency of the two alleles as candidate enhancers was further examined using a Dual-Luciferase Reporter Assay, which showed that the ST allele enhanced luciferase expression by ∼10× relative to st allele in Singapore grouper embryonic cell line (fig. 4F)."
"Finally, we deleted this enhancer using the CRISPR-Cas9 system in fighting fish. Considering the efficiency of tested gRNAs and the cluster of CNEs that could have unpredicted functions, we limited the modification to the CNE.006008 region and did not involve the other CNEs (supplementary fig. S20, Supplementary Material online). Genetic analysis revealed that none of these fish had completely deleted CNE.006008, suggesting nonsimultaneous cutting at multiple targeted gRNA positions. These mosaic fish (n = 7) had significantly more fin rays than the noninjected controls (P < 0.01; fig. 4G). "
Betta splendens
Siamese fighting fish - (species)
Betta splendens
Siamese fighting fish - (species) D
zic1/zic4
Betta splendens
Siamese fighting fish - (species)
Published - Accepted by Curator
ZmCCT
Flowering time
Cis-regulatory,
Insertion
Zea mays
(species) D
Domesticated
Linkage Mapping
Ducrocq S; Giauffret C; Madur D ; et al. (2009)
Fine mapping and haplotype structure analysis of a major flowering time quantitative trait locus on [...]
2 Additional References
GP00001227
GHD7
E5RQA1
Physiology
insertion of a CACTA-like transposon into the promoter of ZmCCT. This insertion suppresses ZmCCT expression through methylation and reduces maize sensitivity to photoperiod.
Zea mays
(species)
Zea mays
(species) D
ZmCCT
Zea mays
(species)
Published - Accepted by Curator
ZmNAC111
Drought tolerance
Cis-regulatory,
Insertion
N
Zea mays
(species) D
Domesticated
Association Mapping
Yang Q; Li Z; Li W ; et al. (2013)
CACTA-like transposable element in ZmCCT attenuated photoperiod sensitivity and accelerated the post[...]
GP00002084
Morphology; Physiology
MITE insertion within the ZmCCT promoter which results in histone hypermethylation and represses the expression of NAC; resulting in a higher drought tolerance. N
Zea mays
(species)
Zea mays
(species) D
ZmNAC111
Zea mays
(species)
Published - Accepted by Curator
Zmr1
Xenobiotic resistance (fungicide)
Melanin content
2 Mutations:
Cis-regulatory
Zymoseptoria tritici
(species)
Intraspecific
Linkage Mapping
Krishnan P; Meile L; Plissonneau C ; et al. (2018)
Transposable element insertions shape gene regulation and melanin production in a fungal pathogen of[...]
GP00001715
CMR1
Q06F33
Physiology
Physiology
2 mutations
Zymoseptoria tritici
(species)
Zymoseptoria tritici
(species)
Zmr1
Zymoseptoria tritici
(species)
Published - Accepted by Curator
ZmVPP1
Drought tolerance
Cis-regulatory,
Insertion
Zea mays
(species)
Intraspecific
Association Mapping
Wang X; Wang H; Liu S ; et al. (2016)
Genetic variation in ZmVPP1 contributes to drought tolerance in maize seedlings.
GP00001567
GRMZM2G170927
A0A172DSU8
Physiology
A 366-bp insertion in the promoter containing 3 MYB cis elements confers drought-inducible expression of ZmVPP1 in drought-tolerant genotypes
Zea mays
(species)
Zea mays
(species)
ZmVPP1
Zea mays
(species)
Published - Accepted by Curator