ABCA2
Xenobiotic resistance (insecticide; Bt Cry2Ab toxin)
Coding,
Insertion
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Tay WT; Mahon RJ; Heckel DG ; et al. (2015)
Insect Resistance to Bacillus thuringiensis Toxin Cry2Ab Is Conferred by Mutations in an ABC Transpo[...]
GP00000004
ABCA2
A0A0S0G7V0
Physiology
5bp (GAATA) nucleotide duplication inducing a frameshift N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
ABCA2
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
ABCA2
Xenobiotic resistance (insecticide; Bt Cry2Ab toxin)
Coding,
Insertion
N
Trichoplusia ni
cabbage looper - (species) D
Intraspecific
Linkage Mapping
Yang X; Chen W; Song X ; et al. (2019)
Mutation of ABC transporter ABCA2 confers resistance to Bt toxin Cry2Ab in Trichoplusia ni.
GP00002054
ABCA2
A0A0S0G7V0
Physiology
insertion of a transposon Tntransib (2581 bp) in ABCA2 which changes splicing sites in the transcript and lead to an indel in the coding region: change of 1551VETLAHALGFLRHLDKR1567 into 1551AHWGK- LYGSNTQN1563 N
Trichoplusia ni
cabbage looper - (species)
Trichoplusia ni
cabbage looper - (species) D
ABCA2
Trichoplusia ni
cabbage looper - (species)
Published - Accepted by Curator
ABCA2
Xenobiotic resistance (insecticide; Bt Cry2Ab toxin)
Coding,
Insertion
N
Pectinophora gossypiella
pink bollworm - (species) D
Intraspecific
Candidate Gene
Mathew LG; Ponnuraj J; Mallappa B ; et al. (2018)
ABC transporter mis-splicing associated with resistance to Bt toxin Cry2Ab in laboratory- and field-[...]
GP00002057
ABCA2
A0A0S0G7V0
Physiology
loss of exon 6 caused by alternative splicing N
Pectinophora gossypiella
pink bollworm - (species)
Pectinophora gossypiella
pink bollworm - (species) D
ABCA2
Pectinophora gossypiella
pink bollworm - (species)
Published - Accepted by Curator
ABCA2
Xenobiotic resistance (insecticide; Bt Cry2Ab)
Coding,
Insertion
N
Trichoplusia ni
cabbage looper - (species) D
Intraspecific
Linkage Mapping
Yang X; Chen W; Song X ; et al. (2019)
Mutation of ABC transporter ABCA2 confers resistance to Bt toxin Cry2Ab in Trichoplusia ni.
GP00002467
ABCA2
Q9BZC7
Physiology
insertion of a 2581-bp transposon Tntransib in ABCA2. This insertion disrupts splicing sites and leads to indels in the protein sequence. CRISPR ABCA2 mutants are highly resistant to Cry2Ab. N
Trichoplusia ni
cabbage looper - (species)
Trichoplusia ni
cabbage looper - (species) D
ABCA2
Trichoplusia ni
cabbage looper - (species)
Published - Accepted by Curator
ABCB1
Plant size (dwarfism)
Coding,
Insertion
N
Sorghum bicolor
sorghum - (species)
Domesticated
Candidate Gene
Multani DS; Briggs SP; Chamberlin MA ; et al. (2003)
Loss of an MDR transporter in compact stalks of maize br2 and sorghum dw3 mutants.
GP00000007
ABCB1
Q9ZR72
Morphology
882bp direct duplication in exon 5 of the dw3 allele driving loss-of-function N
Sorghum bicolor
sorghum - (species)
Sorghum bicolor
sorghum - (species)
ABCB1
Sorghum bicolor
sorghum - (species)
Published - Accepted by Curator
ABCB4
Xenobiotic resistance (insecticide)
Gene Amplification,
Insertion
Aedes aegypti
yellow fever mosquito - (species) D
Intraspecific
Candidate Gene
Bariami V; Jones CM; Poupardin R ; et al. (2012)
Gene amplification, ABC transporters and cytochrome P450s: unraveling the molecular basis of pyrethr[...]
GP00002607
Abcb4
P21440
Physiology
ABCB4 gene amplified about 6–7 times
Aedes aegypti
yellow fever mosquito - (species)
Aedes aegypti
yellow fever mosquito - (species) D
ABCB4
Aedes aegypti
yellow fever mosquito - (species)
Published - Accepted by Curator
ABCC2
Xenobiotic resistance (insecticide)
Coding,
Insertion
Bombyx mori
domestic silkworm - (species) D
Domesticated
Linkage Mapping
Atsumi S; Miyamoto K; Yamamoto K ; et al. (2012)
Single amino acid mutation in an ATP-binding cassette transporter gene causes resistance to Bt toxin[...]
GP00000011
ABCC2
A0A0E3ZDK3
Physiology
1a.a. insertion at codon 234 (Tyr)
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
ABCC2
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
ABO histo blood group glycosyltransferase
ABO antigen blood type
Coding,
Insertion
N
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Hosseini-Maaf B; Irshaid NM; Hellberg A ; et al. (2005)
New and unusual O alleles at the ABO locus are implicated in unexpected blood group phenotypes.
1 Additional References
GP00000021
ABO
P16442
Physiology
1bp insertion resulting in premature stop codon N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
ABO histo blood group glycosyltransferase
Homo sapiens
human - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
3 Mutations:
Aphis gossypii
cotton aphid - (species)
Intraspecific
Candidate Gene
Shang Q; Pan Y; Fang K ; et al. (2014)
Extensive Ace2 duplication and multiple mutations on Ace1 and Ace2 are related with high level of or[...]
4 Additional References
GP00000036
Ace
P07140
Physiology
3 mutations
Aphis gossypii
cotton aphid - (species)
Aphis gossypii
cotton aphid - (species)
Acetylcholinesterase (Ace-1)
Aphis gossypii
cotton aphid - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Gene Amplification,
Insertion
Anopheles gambiae
African malaria mosquito - (species) D
Intraspecific
Candidate Gene
Assogba BS; Milesi P; Djogbénou LS ; et al. (2016)
The ace-1 Locus Is Amplified in All Resistant Anopheles gambiae Mosquitoes: Fitness Consequences of [...]
1 Additional References
GP00001372
Ace
P07140
Physiology
Strict tandem duplication of 203kb encompassing 12 genes ; ace1 heterogeneous gene duplication (susceptible G119 and resistant S119 copies)
Anopheles gambiae
African malaria mosquito - (species)
Anopheles gambiae
African malaria mosquito - (species) D
Acetylcholinesterase (Ace-1)
Anopheles gambiae
African malaria mosquito - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Gene Amplification,
Insertion
Anopheles gambiae
African malaria mosquito - (species)
Intraspecific
Candidate Gene
Assogba BS; Milesi P; Djogbénou LS ; et al. (2016)
The ace-1 Locus Is Amplified in All Resistant Anopheles gambiae Mosquitoes: Fitness Consequences of [...]
GP00001373
Ace
P07140
Physiology
Strict tandem 3 times duplication of 203kb encompassing 12 genes with partial internal deletion of 97kb in the third copy - ace1 homogeneous gene duplications (all 3 copies S119 resistant)
Anopheles gambiae
African malaria mosquito - (species)
Anopheles gambiae
African malaria mosquito - (species)
Acetylcholinesterase (Ace-1)
Anopheles gambiae
African malaria mosquito - (species)
Published - Accepted by Curator
Acetylcholinesterase (Ace-1)
Xenobiotic resistance (insecticide)
Gene Amplification,
Insertion
Anopheles gambiae
African malaria mosquito - (species) D
Intraspecific
Candidate Gene
Assogba BS; Milesi P; Djogbénou LS ; et al. (2016)
The ace-1 Locus Is Amplified in All Resistant Anopheles gambiae Mosquitoes: Fitness Consequences of [...]
GP00001374
Ace
P07140
Physiology
Strict tandem 5 times duplication of 203kb encompassing 12 genes - ace1 homogeneous gene duplications (all 5 copies S119 resistant)
Anopheles gambiae
African malaria mosquito - (species)
Anopheles gambiae
African malaria mosquito - (species) D
Acetylcholinesterase (Ace-1)
Anopheles gambiae
African malaria mosquito - (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
aggrecan
Body size (dwarfism)
Coding,
Insertion
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.
GP00002140
ACAN
P16112
Morphology
2266_2267insGGCA mutation introduces a frameshift and a premature termination codon into exon 11; the frameshift occurs at amino acid position 756 ; the termination codon occurs at position 914 compared to the normal aggrecan product of 2327 amino acids N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
aggrecan
Bos taurus
cattle - (species)
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)
Gene Amplification,
Insertion
Coturnix japonica
Japanese quail - (species) D
Domesticated
Linkage Mapping
Robic A; Morisson M; Leroux S ; et al. (2019)
Two new structural mutations in the 5' region of the ASIP gene cause diluted feather color phenotype[...]
GP00001973
Asip
Q03288
Morphology
71-kb tandem duplication that comprises one unchanged copy of ASIP and one copy present in the ITCH-ASIP fusion gene which leads to a transcript coding for a normal ASIP protein
Coturnix japonica
Japanese quail - (species)
Coturnix japonica
Japanese quail - (species) D
Agouti
Coturnix japonica
Japanese quail - (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 (coat)
Gene Amplification,
Insertion
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[...]
1 Additional References
GP00001324
Asip
Q03288
Morphology
~190kb gene duplication causing dominant white phenotype. Duplication was facilitated by homologous recombination between two non-LTR SINE sequences flanking the duplicated segment ; possible involvement of gene conversion.
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,
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)
Coding,
Insertion
N
Oryctolagus cuniculus
rabbit - (species) D
Domesticated
Candidate Gene
Fontanesi L; Forestier L; Allain D ; et al. (2010)
Characterization of the rabbit agouti signaling protein (ASIP) gene: transcripts and phylogenetic an[...]
1 Additional References
GP00001968
Asip
Q03288
Morphology
an insertion in exon 2 of the black nonagouti allele = c.5_6insA mutation which causes a frameshift and a predicted truncated protein of only 21 amino acids N
Oryctolagus cuniculus
rabbit - (species)
Oryctolagus cuniculus
rabbit - (species) D
Agouti (ASIP)
Oryctolagus cuniculus
rabbit - (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 (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 (ASIP)
Coloration (coat; dorso-ventral)
Coding,
Insertion
N
Oryctolagus cuniculus
rabbit - (species) D
Domesticated
Candidate Gene
Letko A; Ammann B; Jagannathan V ; et al. (2020)
A deletion spanning the promoter and first exon of the hair cycle-specific ASIP transcript isoform i[...]
GP00002373
Asip
Q03288
Morphology
"The structural variant represented an approximately 11 kb deletion (NC_013672.1:g.5,455,408_5,466,123del; Fig. 2). In rabbit, there are currently two ASIP transcript isoforms annotated (NCBI annotation release 102). The deletion removes the entire first 5′-untranslated exon of one of these transcripts (NM_001122939.1). (...) he deletion removed the transcription start site and the first untranslated exon of the presumably hair cycle-specific transcript isoform, suggesting that this is the most likely causative variant for the black and tan phenotype." N
Oryctolagus cuniculus
rabbit - (species)
Oryctolagus cuniculus
rabbit - (species) D
Agouti (ASIP)
Oryctolagus cuniculus
rabbit - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration
Gene Amplification,
Insertion
Capra hircus
goat - (species) D
Domesticated
Association Mapping
Guo J; Sun X; Mao A ; et al. (2022)
A 13.42-kb tandem duplication at the ASIP locus is strongly associated with the depigmentation pheno[...]
GP00002380
Asip
Q03288
Morphology
"We confirmed that a genomic region harboring the ASIP gene is a major locus affecting the coat color phenotype of Swiss markings in goats. Although the molecular genetic mechanisms remain unsolved, the 13,420-bp duplication upstream of ASIP is a necessary but not sufficient condition for this phenotype in goats. Moreover, the variations in the copy number of the duplication across different goat breeds do not lead to phenotypic heterogeneity."
Capra hircus
goat - (species)
Capra hircus
goat - (species) D
Agouti (ASIP)
Capra hircus
goat - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Gene Amplification,
Insertion
Capra hircus
goat - (species) D
Domesticated
Candidate Gene
Henkel J; Dubacher A; Bangerter E ; et al. (2021)
Introgression of ASIP and TYRP1 Alleles Explains Coat Color Variation in Valais Goats.
GP00002381
Asip
Q03288
Morphology
"The white Capra Sempione carried one copy of the AWt allele, which is commonly found in Saanen and Appenzell goats. AWt involves a triplication of ~155 kb comprising the coding sequence of the ASIP, AHCY and ITCH genes (Fontanesi et al. 2009; Henkel et al. 2019). Closer inspection of the short-read alignments revealed that the sequenced Capra Sempione had acquired additional smaller structural alterations compared to the original AWt allele, which comprised a duplication of 1053 bp inserted into a 10 194 bp deletion of the original AWt CNV allele (Supplementary Figure S1)."
Capra hircus
goat - (species)
Capra hircus
goat - (species) D
Agouti (ASIP)
Capra hircus
goat - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Gene Amplification,
Insertion
Capra hircus
goat - (species) D
Domesticated
Candidate Gene
Henkel J; Dubacher A; Bangerter E ; et al. (2021)
Introgression of ASIP and TYRP1 Alleles Explains Coat Color Variation in Valais Goats.
GP00002382
Asip
Q03288
Morphology
"The greyish Grüenochte goat carried one copy of the Apc allele, which causes the characteristic black and white pattern of Swiss Peacock goats (Henkel et al. 2019). The Apc allele consists of a central quadruplication of ~45 kb with triplicated adjacent flanking regions comprising ~28 kb and ~42 kb, respectively."
Capra hircus
goat - (species)
Capra hircus
goat - (species) D
Agouti (ASIP)
Capra hircus
goat - (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)
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
alcohol dehydrogenase (Adh)
Xenobiotic resistance (alcohol)
Coding,
Insertion
N
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Freeth AL; Gibson JB; Wilks AV (1990)
Aberrant splicing of a naturally occurring alcohol dehydrogenase null activity allele in Drosophila [...]
1 Additional References
GP00001990
Adh
P00334
Physiology
eight extra nucleotides (in two groups of four) in the second intron commencing six bases 3' from the 5' splice site. A stop codon was also found in exon 2. S1 nuclease protection experiments have shown that the insertions in intron 2 disrupt the correct splicing of intron 2. The null allele produces a transcript approximately 100 bases longer than the normal mature adult transcript, and the amount of the null allele transcript is only about 10% of the normal level. N
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
alcohol dehydrogenase (Adh)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
amelogenin (AMEL)
Tooth absence (no enamel production)
3 Mutations:
Coding
N
Gallus gallus
chicken - (species) D
Intergeneric or Higher
Candidate Gene
Sire JY; Delgado SC; Girondot M (2008)
Hen's teeth with enamel cap: from dream to impossibility.
GP00001933
Amelx
P63277
Physiology
3 mutations
Paleosuchus palpebrosus
Cuvier's dwarf caiman - (species)
Gallus gallus
chicken - (species) D
amelogenin (AMEL)
Gallus gallus
chicken - (species)
Published - Accepted by Curator
amylase
Starch processing
Gene Amplification,
Insertion
Mus musculus
house mouse - (species) D
Domesticated
Candidate Gene
Pajic P; Pavlidis P; Dean K ; et al. (2019)
Independent amylase gene copy number bursts correlate with dietary preferences in mammals.
GP00001867
Amy1
P00687
Physiology
Copy Number Variation
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species) D
amylase
Mus musculus
house mouse - (species)
Published - Accepted by Curator
amylase
Starch processing
Gene Amplification,
Insertion
Rattus norvegicus
Norway rat - (species) D
Domesticated
Candidate Gene
Pajic P; Pavlidis P; Dean K ; et al. (2019)
Independent amylase gene copy number bursts correlate with dietary preferences in mammals.
GP00001868
Amy1
P00687
Physiology
Copy Number Variation
Rattus norvegicus
Norway rat - (species)
Rattus norvegicus
Norway rat - (species) D
amylase
Rattus norvegicus
Norway rat - (species)
Published - Accepted by Curator
amylase
Starch processing
Gene Amplification,
Insertion
Sus scrofa
pig - (species) D
Domesticated
Candidate Gene
Pajic P; Pavlidis P; Dean K ; et al. (2019)
Independent amylase gene copy number bursts correlate with dietary preferences in mammals.
GP00001869
Amy1
P00687
Physiology
Copy Number Variation
Sus scrofa
pig - (species)
Sus scrofa
pig - (species) D
amylase
Sus scrofa
pig - (species)
Published - Accepted by Curator
amylase
Starch processing
Gene Amplification,
Insertion
Cebus capucinus
white-faced sapajou - (species) D
Intergeneric or Higher
Candidate Gene
Pajic P; Pavlidis P; Dean K ; et al. (2019)
Independent amylase gene copy number bursts correlate with dietary preferences in mammals.
GP00001870
Amy1
P00687
Physiology
3-4 copies of the amylase gene; which coincides with increased levels of amylase activity in saliva
Aotus trivirgatus
douroucouli - (species)
Callithrix jacchus
white-tufted-ear marmoset - (species)
Cebus capucinus
white-faced sapajou - (species) D
amylase
Cebus capucinus
white-faced sapajou - (species)
Published - Accepted by Curator
amylase
Starch processing
Gene Amplification,
Insertion
Papio anubis
olive baboon - (species) D
Intergeneric or Higher
Candidate Gene
Pajic P; Pavlidis P; Dean K ; et al. (2019)
Independent amylase gene copy number bursts correlate with dietary preferences in mammals.
GP00001871
Amy1
P00687
Physiology
3-4 copies of the amylase gene; which coincides with increased levels of amylase activity in saliva
Cercocebus atys
sooty mangabey - (species)
Macaca mulatta
Rhesus monkey - (species)
Papio anubis
olive baboon - (species) D
amylase
Papio anubis
olive baboon - (species)
Published - Accepted by Curator
amylase
Starch processing
Gene Amplification,
Insertion
Meles leucurus
Asian badger - (species) D
Intraspecific
Candidate Gene
Abduriyim Shamshidin; Nishita Yoshinori; Abramov AV ; et al. (2019
)
Variation in pancreatic amylase gene copy number among Eurasian badgers (Carnivora, Mustelidae, Mele[...]
GP00001907
Amy1
P00687
Physiology
Copy Number Variation varies between one and four in this species
Meles leucurus
Asian badger - (species)
Meles leucurus
Asian badger - (species) D
amylase
Meles leucurus
Asian badger - (species)
Published - Accepted by Curator
amylase 1 (AMY1)
Starch processing
Gene Amplification,
Insertion
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Perry GH; Dominy NJ; Claw KG ; et al. (2007)
Diet and the evolution of human amylase gene copy number variation.
2 Additional References
GP00000085
AMY1A
P04745
Physiology
Probably gene duplication
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
amylase 1 (AMY1)
Homo sapiens
human - (species)
Published - Accepted by Curator
amylase 2B (AMY2B)
Starch processing
Gene Amplification,
Insertion
Canis lupus familiaris
dog - (subspecies) D
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.
4 Additional References
GP00000086
LOC479922
L7N0N6
Physiology
Copy Number Variation
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
amylase 2B (AMY2B)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
anthocyanin2 (an2)
Coloration (flowers)
Coding,
Insertion
N
Petunia axillaris
(species) D
Intraspecific
Candidate Gene
Quattrocchio F; Wing J; van der Woude K ; et al. (1999)
Molecular analysis of the anthocyanin2 gene of petunia and its role in the evolution of flower color[...]
GP00000090
AN2
A4GRU8
Morphology
4bp insertion at a.a. 127; premature stop N
Petunia integrifolia
(species)
Petunia axillaris
(species) D
anthocyanin2 (an2)
Petunia axillaris
(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
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species) D
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000113
GA20OX1
Q39110
Morphology
+1bp "G" at +256 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species) D
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000114
GA20OX1
Q39110
Morphology
+7bp "G" at +961 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species) D
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000115
GA20OX1
Q39110
Morphology
+1bp at +1270 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AtGA20ox1 (=GA5=Sd1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
AtGA20ox1 (=GA5=Sd1)
Plant size (dwarfism)
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species) D
Domesticated
Linkage Mapping
Barboza L; Effgen S; Alonso-Blanco C ; et al. (2013)
Arabidopsis semidwarfs evolved from independent mutations in GA20ox1, ortholog to green revolution d[...]
GP00000116
GA20OX1
Q39110
Morphology
Transposon insertion at +1355 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
AtGA20ox1 (=GA5=Sd1)
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
BADH2
Fragrance
Coding,
Insertion
N
Oryza sativa
rice - (species) D
Domesticated
Candidate Gene
Kovach MJ; Calingacion MN; Fitzgerald MA ; et al. (2009)
The origin and evolution of fragrance in rice (Oryza sativa L.).
GP00001774
BADH2
Q84LK3
Physiology
insertion of 1 bp (T) in exon 10 N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
BADH2
Oryza sativa
rice - (species)
Published - Accepted by Curator
BADH2
Fragrance
Coding,
Insertion
N
Oryza sativa
rice - (species) D
Domesticated
Candidate Gene
Kovach MJ; Calingacion MN; Fitzgerald MA ; et al. (2009)
The origin and evolution of fragrance in rice (Oryza sativa L.).
GP00001779
BADH2
Q84LK3
Physiology
1-bp insertion (G) in exon 14 N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
BADH2
Oryza sativa
rice - (species)
Published - Accepted by Curator
BADH2
Fragrance
Coding,
Insertion
N
Oryza sativa
rice - (species) D
Domesticated
Candidate Gene
Kovach MJ; Calingacion MN; Fitzgerald MA ; et al. (2009)
The origin and evolution of fragrance in rice (Oryza sativa L.).
GP00001780
BADH2
Q84LK3
Physiology
3-bp insertion (TAT) in exon 13 - causes a frameshift N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
BADH2
Oryza sativa
rice - (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
BCMA
Glucosinolate content
Herbivore resistance
3 Mutations:
Boechera stricta
(species)
Intraspecific
Linkage Mapping
Prasad KV; Song BH; Olson-Manning C ; et al. (2012)
A gain-of-function polymorphism controlling complex traits and fitness in nature.
GP00000136
J9QWI9
Physiology
Physiology
3 mutations
Boechera stricta
(species)
Boechera stricta
(species)
BCMA
Boechera stricta
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Insertion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001833
TUB2
P02557
Physiology
Trans_3538426_3538832 – insertion of a transposable element = a cut and paste DNA transposon Tc5B - which is part of the TcMar-Tc4 transposon superfamily– 406bp of the reference sequence seem to be disrupted- Steffen Hahnel comment : Since we didn't re-amplify the insertion by PCR; we don't know its exact location; sequence and size. Its identification is only based on the illumina reads of genome sequencing of JU3125. N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Insertion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001842
TUB2
P02557
Physiology
Ins_3539575_3539576 – Steffen Hahnel comment: 1 bp insertion in coding exon 4 N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
beta-tubulin (ben-1)
Xenobiotic resistance (benzimidazole)
Coding,
Insertion
N
Caenorhabditis elegans
(species) D
Intraspecific
Association Mapping
Hahnel SR; Zdraljevic S; Rodriguez BC ; et al. (2018)
Extreme allelic heterogeneity at a Caenorhabditis elegans beta-tubulin locus explains natural resist[...]
GP00001857
TUB2
P02557
Physiology
Ins_3541547_3541548 – 1 bp insertion in first coding exon N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
beta-tubulin (ben-1)
Caenorhabditis elegans
(species)
Published - Accepted by Curator
bHLH2
Coloration (flower; seed)
Coding,
Insertion
N
Ipomoea purpurea
common morning-glory - (species) D
Domesticated
Candidate Gene
Park KI; Ishikawa N; Morita Y ; et al. (2007)
A bHLH regulatory gene in the common morning glory, Ipomoea purpurea, controls anthocyanin biosynthe[...]
GP00002078
BHLH2
Q9CAD0
Morphology
two copies of 3.9-kb Tip100 integrated into bHLH2 exon 7 and intron 2 N
Ipomoea purpurea
common morning-glory - (species)
Ipomoea purpurea
common morning-glory - (species) D
bHLH2
Ipomoea purpurea
common morning-glory - (species)
Published - Accepted by Curator
bHLH2
Coloration (flower; seed)
Coding,
Insertion
N
Ipomoea purpurea
common morning-glory - (species) D
Domesticated
Candidate Gene
Park KI; Ishikawa N; Morita Y ; et al. (2007)
A bHLH regulatory gene in the common morning glory, Ipomoea purpurea, controls anthocyanin biosynthe[...]
GP00002085
BHLH2
Q9CAD0
Morphology
only one copy of Tip100 in exon 7 and no apparent footprint of Tip100 in intron 2 N
Ipomoea purpurea
common morning-glory - (species)
Ipomoea purpurea
common morning-glory - (species) D
bHLH2
Ipomoea purpurea
common morning-glory - (species)
Published - Accepted by Curator
bHLH2
Coloration (flower; seed)
Coding,
Insertion
N
Ipomoea purpurea
common morning-glory - (species) D
Domesticated
Candidate Gene
Park KI; Ishikawa N; Morita Y ; et al. (2007)
A bHLH regulatory gene in the common morning glory, Ipomoea purpurea, controls anthocyanin biosynthe[...]
GP00002086
BHLH2
Q9CAD0
Morphology
insertion of 838 bp IpMu1 in exon 2 N
Ipomoea purpurea
common morning-glory - (species)
Ipomoea purpurea
common morning-glory - (species) D
bHLH2
Ipomoea purpurea
common morning-glory - (species)
Published - Accepted by Curator
bHLH2
Coloration (flowers; seeds)
Coding,
Insertion
N
Ipomoea tricolor
(species) D
Domesticated
Candidate Gene
Park KI; Choi JD; Hoshino A ; et al. (2004)
An intragenic tandem duplication in a transcriptional regulatory gene for anthocyanin biosynthesis c[...]
GP00002091
BHLH2
Q9CAD0
Morphology
intragenic tandem duplication of 3.3 kbp of the bHLH2 gene. Each of the tandem repeats is flanked by a 3-bp sequence AAT; indicating that the 3-bp microhomology is used to generate the tandem duplication. The transcripts in the pale-blue flower buds of the mutant contain an internal 583-bp tandem duplication that results in the production of a truncated polypeptide lacking the bHLH domain. The mRNA accumulation of most of the structural genes encoding enzymes for anthocyanin biosynthesis in the flower buds of the mutant was significantly reduced. The transcripts identical to the wild-type mRNAs for the transcriptional activator were present abundantly in blue spots of the variegated flowers whereas the transcripts containing the 583-bp tandem duplication were predominant in the pale-blue background of the same flowers. The flower and seed variegations studied here are likely to be caused by somatic homologous recombination between an intragenic tandem duplication in the gene encoding a bHLH transcriptional activator for anthocyanin biosynthesis. N
Ipomoea tricolor
(species)
Ipomoea tricolor
(species) D
bHLH2
Ipomoea tricolor
(species)
Published - Accepted by Curator
bHLH2
Coloration (flowers)
Coding,
Insertion
N
Petunia axillaris
(species) D
Domesticated
Candidate Gene
Spelt C; Quattrocchio F; Mol J ; et al. (2002)
ANTHOCYANIN1 of petunia controls pigment synthesis, vacuolar pH, and seed coat development by geneti[...]
GP00002092
BHLH2
Q9CAD0
Morphology
insertion of a dTph1 transposon in the AN1 gene N
Petunia axillaris
(species)
Petunia axillaris
(species) D
bHLH2
Petunia axillaris
(species)
Published - Accepted by Curator
BMP15
Fertility (increased ovulation rate)
Coding,
Insertion
N
Ovis aries
sheep - (species) D
Domesticated
Candidate Gene
Lassoued N; Benkhlil Z; Woloszyn F ; et al. (2017)
FecX a Novel BMP15 mutation responsible for prolificacy and female sterility in Tunisian Barbarine [...]
GP00002159
Bmp15
Q9Z0L4
Physiology
C insertion (c.310insC) in the ovine BMP15 cDNA leading to a frame shift at protein position 101 N
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BMP15
Ovis aries
sheep - (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
cadherin
Xenobiotic resistance (insecticide)
Coding,
Insertion
N
Heliothis virescens
tobacco budworm - (species) D
Intraspecific
Linkage Mapping
Gahan LJ; Gould F; Heckel DG (2001)
Identification of a gene associated with Bt resistance in Heliothis virescens.
GP00000161
BtR
Q19KJ3
Physiology
Insertion of retrotransposon N
Heliothis virescens
tobacco budworm - (species)
Heliothis virescens
tobacco budworm - (species) D
cadherin
Heliothis virescens
tobacco budworm - (species)
Published - Accepted by Curator
cadherin
Xenobiotic resistance (insecticide; Bt Cry2Ab toxin)
Coding,
Insertion
N
Pectinophora gossypiella
pink bollworm - (species) D
Experimental Evolution
Candidate Gene
Morin S; Biggs RW; Sisterson MS ; et al. (2003)
Three cadherin alleles associated with resistance to Bacillus thuringiensis in pink bollworm.
1 Additional References
GP00002449
A0A1B0RHM4
Physiology
insertion into PgCad1 of an active chicken repeat (CR1) retrotransposon designated CR1-1_Pg. Unlike most other CR1 elements CR1-1_Pg is intact and transcribed by a flanking promoter. It contains target site duplications and has a relatively low number of copies. Examination of transcripts from the PgCad1 locus revealed that CR1-1_Pg disrupts both the cadherin protein and a long noncoding RNA of unknown function. N
Pectinophora gossypiella
pink bollworm - (species)
Pectinophora gossypiella
pink bollworm - (species) D
cadherin
Pectinophora gossypiella
pink bollworm - (species)
Published - Accepted by Curator
cardinal
Coloration (eyes)
Coding,
Insertion
N
Tribolium castaneum
red flour beetle - (species) D
Domesticated
Candidate Gene
Shirai Y; Daimon T (2020)
Mutations in cardinal are responsible for the red-1 and peach eye color mutants of the red flour bee[...]
GP00002665
cd
Q9VCW2
Morphology
A fragment of a transposable element (about 5 kb - 99% identical in amino acids to a putative retrotransposon (XP_015838217)) is inserted into exon 6. This insertion introduced a premature stop codon just after the insertion site. Amino acid residues near the C-terminal end of the haem peroxidase domain are thus disrupted. N
Tribolium castaneum
red flour beetle - (species)
Tribolium castaneum
red flour beetle - (species) D
cardinal
Tribolium castaneum
red flour beetle - (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
Chalcone synthase D (CHS-D)
Coloration (flower)
Unknown,
Insertion
Ipomoea purpurea
common morning-glory - (species) D
Intraspecific
Candidate Gene
Habu Y; Hisatomi Y; Iida S (1998)
Molecular characterization of the mutable flaked allele for flower variegation in the common morning[...]
GP00001459
CHSD
O22045
Morphology
insertion of a 3.9kb long transposable element Tip100 in intron
Ipomoea purpurea
common morning-glory - (species)
Ipomoea purpurea
common morning-glory - (species) D
Chalcone synthase D (CHS-D)
Ipomoea purpurea
common morning-glory - (species)
Published - Accepted by Curator
Chalcone synthase D (CHS-D)
Coloration (flower)
Unknown,
Insertion
Ipomoea purpurea
common morning-glory - (species) D
Intraspecific
Candidate Gene
Habu Y; Hisatomi Y; Iida S (1998)
Molecular characterization of the mutable flaked allele for flower variegation in the common morning[...]
GP00001460
CHSD
O22045
Morphology
2 insertions of Tip100 in opposite orientation at different sites within the same intron
Ipomoea purpurea
common morning-glory - (species)
Ipomoea purpurea
common morning-glory - (species) D
Chalcone synthase D (CHS-D)
Ipomoea purpurea
common morning-glory - (species)
Published - Accepted by Curator
CHKov1
Pathogen resistance
Xenobiotic resistance (insecticide)
Coding,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Magwire MM; Bayer F; Webster CL ; et al. (2011)
Successive increases in the resistance of Drosophila to viral infection through a transposon inserti[...]
1 Additional References
GP00000182
CHKov1
Q961V7
Physiology
Physiology
Insertion of a Doc TE element resulting in novel; seemingly functional short protein
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
CHKov1
Drosophila melanogaster
fruit fly - (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
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,
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
Cpm1
Xenobiotic resistance (insecticide; toxin produced by Bacillus sphaericus)
Coding,
Insertion
N
Culex pipiens
northern house mosquito - (species) D
Intraspecific
Candidate Gene
Darboux I; Charles JF; Pauchet Y ; et al. (2007)
Transposon-mediated resistance to Bacillus sphaericus in a field-evolved population of Culex pipiens[...]
GP00002103
Q95WY5
Physiology
Insertion of a 451-bpTE into the exon 2 of the toxin receptor gene. The insertion induces a new mRNA splicing event that creates a shorter transcript. This new transcript encodes an altered receptor unable to interact with the toxin resulting in resistance to this insecticide. The missing portion includes GPI-anchoring signals N
Culex pipiens
northern house mosquito - (species)
Culex pipiens
northern house mosquito - (species) D
Cpm1
Culex pipiens
northern house mosquito - (species)
Published - Accepted by Curator
CPR
Xenobiotic resistance
Gene Amplification,
Insertion
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 [...]
GP00002398
Cpr
Q27597
Physiology
Pyflubumide resistant populations are estimated to harbor three CPR copies by two methods, whereas susceptible populations have a single CPR copy.
Tetranychus urticae
two-spotted spider mite - (species)
Tetranychus urticae
two-spotted spider mite - (species) D
CPR
Tetranychus urticae
two-spotted spider mite - (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
CYP(T)
Flower morphology (style length)
Coding,
Insertion
N
Primula vulgaris
(species) D
Intraspecific
Linkage Mapping
Li J; Cocker JM; Wright J ; et al. (2016)
Genetic architecture and evolution of the S locus supergene in Primula vulgaris.
GP00001394
CYP734A1
O48786
Morphology
single base insertion in exon 2 introduces a disruptive premature stop codon N
Primula vulgaris
(species)
Primula vulgaris
(species) D
CYP(T)
Primula vulgaris
(species)
Published - Accepted by Curator
Cyp12d1
Xenobiotic resistance (caffeine tolerance)
Gene Amplification,
Insertion
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Linkage Mapping
Najarro MA; Hackett JL; Smith BR ; et al. (2015)
Identifying Loci Contributing to Natural Variation in Xenobiotic Resistance in Drosophila.
GP00000198
Cyp12d1-d
Q7KR10
Physiology
Copy number Variant
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
Cyp12d1
Drosophila melanogaster
fruit fly - (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
Cyp28d1
Xenobiotic resistance (nicotine ; larval stage)
Gene Amplification,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Chakraborty M; VanKuren NW; Zhao R ; et al. (2018)
Hidden genetic variation shapes the structure of functional elements in Drosophila.
2 Additional References
GP00001407
Cyp28d1
Q9VMT5
Physiology
insertion of a partial 1.5kb Accord transposable element and a Cyp28d1 gene tandem duplication (CNV - 3754 bp) that may play complementary role in resistance levels
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Cyp28d1
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Cyp28d1
Xenobiotic resistance (nicotine ; larval stage)
Coding,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Chakraborty M; Emerson JJ; Macdonald SJ ; et al. (2019)
Structural variants exhibit widespread allelic heterogeneity and shape variation in complex traits.
GP00002113
Cyp28d1
Q9VMT5
Physiology
insertion of a FW element (4720 bp) into the coding region (exon) of the second copy of the Cyp28d1 (there is still another copy of the gene left due to a duplication). Associated with a decrease in Cyp28d2 gene expression and a decrease in nicotin resistance.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Cyp28d1
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Cyp28d1-Cyp28d2
Xenobiotic resistance (nicotine ; larval stage)
Gene Amplification,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Chakraborty M; Emerson JJ; Macdonald SJ ; et al. (2019)
Structural variants exhibit widespread allelic heterogeneity and shape variation in complex traits.
GP00002112
Cyp28d1
Q9VMT5
Physiology
duplication of 6063 bp which includes genes Cyp28d1; Cyp28d2 and CG7742. Associated with increased expression of Cyp28d2 and increased resistance to nicotin
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Cyp28d1-Cyp28d2
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
Cyp28d1-Cyp28d2
Xenobiotic resistance (nicotine ; larval stage)
Gene Amplification,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Linkage Mapping
Chakraborty M; Emerson JJ; Macdonald SJ ; et al. (2019)
Structural variants exhibit widespread allelic heterogeneity and shape variation in complex traits.
GP00002114
Cyp28d1
Q9VMT5
Physiology
duplication of a 15297-bp region; which encompasses 5 genes: Msp300 Cyp28d2 Cyp28d1 CG7742 and CG14034. Associated with increased expression of Cyp28d1 gene expression and increased nicotin resistance
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Cyp28d1-Cyp28d2
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
CYP337B3
Xenobiotic resistance (insecticide; pyrethroid)
Coding,
Insertion
Helicoverpa zea
corn earworm - (species) D
Intraspecific
Candidate Gene
Walsh TK; Joussen N; Tian K ; et al. (2018)
Multiple recombination events between two cytochrome P450 loci contribute to global pyrethroid resis[...]
1 Additional References
GP00002485
CYP337B3
A0A0H3V333
Physiology
Introgression of the CYP337B3v2 resistant allele from Helicoverpa armigera
Helicoverpa zea
corn earworm - (species)
Helicoverpa zea
corn earworm - (species) D
CYP337B3
Helicoverpa zea
corn earworm - (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
CYP6CY3-CYP6CY4
Xenobiotic resistance (insecticide; neonicotinoid; host plant)
Gene Amplification,
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.
3 Additional References
GP00001473
CYP6CY3
V5SQ25
Physiology
gene amplification (from 2 to 14-100 copies) - CYP6CY3 and neighboring gene CYP6CY4 are duplicated in M. p. nicotianae as a large amplicon of ~325 kb creating characteristic breakpoints identifying the region. CYP6CY4 and CYP6CY3 are highly effective at metabolizing nicotine to its nontoxic metabolite cotinine.
Myzus persicae
green peach aphid - (species)
Myzus persicae
green peach aphid - (species) D
CYP6CY3-CYP6CY4
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
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
CYP76AD1
Coloration
Coding,
Insertion
N
Beta vulgaris
(species) D
Domesticated
Linkage Mapping
Hatlestad GJ; Sunnadeniya RM; Akhavan NA ; et al. (2012)
The beet R locus encodes a new cytochrome P450 required for red betalain production.
GP00000210
CYP76AD1
I3PFJ5
Morphology
5bp insertion resulting in frameshift N
Beta vulgaris
(species)
Beta vulgaris
(species) D
CYP76AD1
Beta vulgaris
(species)
Published - Accepted by Curator
CYP9A
Xenobiotic resistance (insecticide; deltamethrin)
Gene Amplification,
Insertion
Spodoptera frugiperda
fall armyworm - (species)
Intraspecific
Association Mapping
Gimenez S; Abdelgaffar H; Goff GL ; et al. (2020)
Adaptation by copy number variation increases insecticide resistance in the fall armyworm.
GP00002476
Physiology
In sensitive alleles the gene cluster is composed of 12 CYP9A genes and two alcohol dehydrogenase genes. All 30 resistant alleles have two copies of this unit while 28 and 6 alleles of the sensitive individuals had one and two copies; respectively.
Spodoptera frugiperda
fall armyworm - (species)
Spodoptera frugiperda
fall armyworm - (species)
CYP9A
Spodoptera frugiperda
fall armyworm - (species)
Published - Accepted by Curator
CYP9J26
Xenobiotic resistance (insecticide)
Gene Amplification,
Insertion
Aedes aegypti
yellow fever mosquito - (species) D
Intraspecific
Candidate Gene
Bariami V; Jones CM; Poupardin R ; et al. (2012)
Gene amplification, ABC transporters and cytochrome P450s: unraveling the molecular basis of pyrethr[...]
GP00002606
CYP9J
Q8T4S7
Physiology
CYP9J26 gene amplified about 6–7 times
Aedes aegypti
yellow fever mosquito - (species)
Aedes aegypti
yellow fever mosquito - (species) D
CYP9J26
Aedes aegypti
yellow fever mosquito - (species)
Published - Accepted by Curator
CYP9M6
Xenobiotic resistance (insecticide)
Gene Amplification,
Insertion
Aedes aegypti
yellow fever mosquito - (species) D
Experimental Evolution
Candidate Gene
Kasai S; Komagata O; Itokawa K ; et al. (2014)
Mechanisms of pyrethroid resistance in the dengue mosquito vector, Aedes aegypti: target site insens[...]
1 Additional References
GP00002448
CYP9M6
X5ICI6
Physiology
CYP9M6 has the capability to metabolize permethrin and is over expressed in the resistant strain partially due to gene amplification. The average copy number of the CYP9M9 gene is 4.6-fold more than the standard strain based on qPCR.
Aedes aegypti
yellow fever mosquito - (species)
Aedes aegypti
yellow fever mosquito - (species) D
CYP9M6
Aedes aegypti
yellow fever mosquito - (species)
Published - Accepted by Curator
DCAR-032551
Carotenoid content
Coding,
Insertion
N
Daucus carota
carrot - (species) D
Domesticated
Linkage Mapping
Iorizzo M; Ellison S; Senalik D ; et al. (2016)
A high-quality carrot genome assembly provides new insights into carotenoid accumulation and asterid[...]
GP00001568
DCAR_032551
A0A162A3G8
Morphology
A 212-nt insertion in exon 2 that creates a frameshift mutation N
Daucus carota
carrot - (species)
Daucus carota
carrot - (species) D
DCAR-032551
Daucus carota
carrot - (species)
Published - Accepted by Curator
Delta-1-pyrroline-5-carboxylate synthase A
Drought response (drought-induced proline accumulation)
2 Mutations:
Coding
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Kesari R; Lasky JR; Villamor JG ; et al. (2012)
Intron-mediated alternative splicing of Arabidopsis P5CS1 and its association with natural variation[...]
GP00001280
P5CSA
P54887
Physiology
2 mutations
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Delta-1-pyrroline-5-carboxylate synthase A
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Dihydroflavonol 4 reductase (MlDfr)
Coloration (flower)
Coding,
Insertion
N
Erythranthe lewisii
(species) D
Intraspecific
Candidate Gene
Wu CA; Streisfeld MA; Nutter LI ; et al. (2013)
The genetic basis of a rare flower color polymorphism in Mimulus lewisii provides insight into the r[...]
GP00001457
DFRA
P51102
Morphology
A 2 nt (TG) insertion at position 265 causing a frameshift and a greatly truncated protein of 106 aa only about one-fourth of its functional length N
Erythranthe lewisii
(species)
Erythranthe lewisii
(species) D
Dihydroflavonol 4 reductase (MlDfr)
Erythranthe lewisii
(species)
Published - Accepted by Curator
Drosomycin-like 5
Pathogen resistance (fungi)
Gene Amplification,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Chakraborty M; Emerson JJ; Macdonald SJ ; et al. (2019)
Structural variants exhibit widespread allelic heterogeneity and shape variation in complex traits.
GP00002111
Drsl5
Q9VZR2
Physiology
Duplication of the gene and insertion of a 4993-bp region (which comes from part of a neighboring gene). Associated with a >1000-fold expression increase of the gene.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
Drosomycin-like 5
Drosophila melanogaster
fruit fly - (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)
Scales (loss)
Femoral glands (absent)
Tooth number
Coding,
Insertion
Pogona vitticeps
central bearded dragon - (species) D
Intraspecific
Candidate Gene
Di-Poï N; Milinkovitch MC (2016)
The anatomical placode in reptile scale morphogenesis indicates shared ancestry among skin appendage[...]
GP00002040
Eda
O54693
Morphology
Morphology
Morphology
5′688–bp insertion of a transposon of the LTR-Gypsy family which generates a new splice donor site (gt) 42 bases upstream of the wild-type donor site; thus generating a 14–amino acid deletion in the corresponding transcript
Pogona vitticeps
central bearded dragon - (species)
Pogona vitticeps
central bearded dragon - (species) D
Ectodysplasin (EDA)
Pogona vitticeps
central bearded dragon - (species)
Published - Accepted by Curator
EDNRA
Coloration (coat ; white-spotting)
Gene Amplification,
Insertion
Capra hircus
goat - (species) D
Domesticated
Association Mapping
Menzi F; Keller I; Reber I ; et al. (2016)
Genomic amplification of the caprine EDNRA locus might lead to a dose dependent loss of pigmentation[...]
GP00002170
Ednra
Q61614
Morphology
1 Mb copy number variant (CNV) harboring 5 genes including EDNRA ; The duplicated EDNRA copies contain a missense variant (p.Tyr129His) predicted to increase the affinity of the encoded mutant receptor for endothelin 3. Menzi et al. proposed a hypothesis whereby ectopic overexpression of a mutant EDNRA scavenges EDN3 required for EDNRB signaling and normal melanocyte development and thus likely leads to an absence of melanocytes in the non-pigmented body areas of Boer goats (thanks to OMIA for the summary)
Capra hircus
goat - (species)
Capra hircus
goat - (species) D
EDNRA
Capra hircus
goat - (species)
Published - Accepted by Curator
enamelin (ENAM)
Tooth composition (no enamel production)
3 Mutations:
Coding
N
Orycteropus afer
aardvark - (species) D
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Murphy WJ ; et al. (2009)
Molecular decay of the tooth gene Enamelin (ENAM) mirrors the loss of enamel in the fossil record of[...]
GP00001943
ENAM
Q9NRM1
Physiology
3 mutations
Elephantulus rufescens
East African long-eared elephant shrew - (species)
Orycteropus afer
aardvark - (species) D
enamelin (ENAM)
Orycteropus afer
aardvark - (species)
Published - Accepted by Curator
enamelysin (MMP20)
Tooth absence (no enamel production)
Coding,
Insertion
N
Balaenoptera physalus
Fin whale - (species) D
Balaena mysticetus
bowhead whale - (species) D
Megaptera novaeangliae
humpback whale - (species) D
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Cheng J ; et al. (2011)
Pseudogenization of the tooth gene enamelysin (MMP20) in the common ancestor of extant baleen whales[...]
GP00001940
MMP20
O60882
Physiology
insertion of a CHR-2 SINE retroposon in exon 2 of MMP20 which would result in premature truncation of the MMP20 protein owing to stop codons in all possible reading frames of the CHR-2 SINE. The length of the MMP20 SINE ranges from 302 bp (B. musculus) to 318 bp (B. physalus). This mutation is found in eight investigated species of baleen whales. Other inactivating mutations (nonsense and frameshift mutations) are found in various species N
Physeter catodon
sperm whale - (species)
Balaenoptera physalus
Fin whale - (species) D
Balaena mysticetus
bowhead whale - (species) D
Megaptera novaeangliae
humpback whale - (species) D
enamelysin (MMP20)
Balaenoptera physalus
Fin whale - (species)
Balaena mysticetus
bowhead whale - (species)
Megaptera novaeangliae
humpback whale - (species)
Published - Accepted by Curator
EOMES (eomesodermin)
Bird head comb (reduced)
Gene Amplification,
Insertion
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Dorshorst B; Harun-Or-Rashid M; Bagherpoor AJ ; et al. (2015)
A genomic duplication is associated with ectopic eomesodermin expression in the embryonic chicken co[...]
GP00000271
Eomes
O54839
Morphology
a 20 Kb tandem duplication containing several conserved putative regulatory elements located 200 Kb upstream of the eomesodermin gene
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
EOMES (eomesodermin)
Gallus gallus
chicken - (species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Gene Amplification,
Insertion
Amaranthus palmeri
(species) D
Intraspecific
Candidate Gene
Gaines TA; Zhang W; Wang D ; et al. (2010)
Gene amplification confers glyphosate resistance in Amaranthus palmeri.
GP00001883
At2g45300
P05466
Physiology
Genomes of resistant plants contain from 5-fold to more than 160-fold more copies of the EPSPS gene than did genomes of susceptible plants - the duplicated section of DNA including the 10 kb EPSPS gene is at least 30 kb long
Amaranthus palmeri
(species)
Amaranthus palmeri
(species) D
EPSPS
Amaranthus palmeri
(species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Gene Amplification,
Insertion
Amaranthus tuberculatus
(species) D
Intraspecific
Candidate Gene
Tranel PJ; Riggins CW; Bell MS ; et al. (2011)
Herbicide resistances in Amaranthus tuberculatus: a call for new options.
GP00001884
At2g45300
P05466
Physiology
4 copies of the EPSPS gene
Amaranthus tuberculatus
(species)
Amaranthus tuberculatus
(species) D
EPSPS
Amaranthus tuberculatus
(species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Gene Amplification,
Insertion
Lolium multiflorum
Italian ryegrass - (species) D
Intraspecific
Candidate Gene
Salas RA; Dayan FE; Pan Z ; et al. (2012)
EPSPS gene amplification in glyphosate-resistant Italian ryegrass (Lolium perenne ssp. multiflorum) [...]
GP00001885
At2g45300
P05466
Physiology
15-25 copies of the EPSPS gene
Lolium multiflorum
Italian ryegrass - (species)
Lolium multiflorum
Italian ryegrass - (species) D
EPSPS
Lolium multiflorum
Italian ryegrass - (species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Gene Amplification,
Insertion
Bassia scoparia
(species) D
Intraspecific
Candidate Gene
Sammons RD; Gaines TA (2014)
Glyphosate resistance: state of knowledge.
GP00001886
At2g45300
P05466
Physiology
15-25 copies of the EPSPS gene
Bassia scoparia
(species)
Bassia scoparia
(species) D
EPSPS
Bassia scoparia
(species)
Published - Accepted by Curator
EPSPS
Xenobiotic resistance (herbicides; glyphosate)
Gene Amplification,
Insertion
Amaranthus spinosus
(species) D
Intraspecific
Candidate Gene
Sammons RD; Gaines TA (2014)
Glyphosate resistance: state of knowledge.
GP00001887
At2g45300
P05466
Physiology
26-37 copies of the EPSPS gene
Amaranthus spinosus
(species)
Amaranthus spinosus
(species) D
EPSPS
Amaranthus spinosus
(species)
Published - Accepted by Curator
ERG3
Xenobiotic resistance (drug)
Coding,
Insertion
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gerstein AC; Lo DS; Otto SP (2012)
Parallel genetic changes and nonparallel gene-environment interactions characterize the evolution of[...]
GP00001750
ERG3
P32353
Physiology
29-bp duplication in line 28 at nucleotide position 641 N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
ERG3
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
esterase A8 and B8
Xenobiotic resistance (insecticide)
Gene Amplification,
Insertion
Culex pipiens
northern house mosquito - (species) D
Intraspecific
Candidate Gene
Qiao CL; Marquine M; Pasteur N ; et al. (1998)
A new esterase gene amplification involved in OP resistance in Culex pipiens mosquitoes from China.
GP00002641
B1
P16854
Physiology
coamplification of both esterase loci (Est-2 and Est-3)
Culex pipiens
northern house mosquito - (species)
Culex pipiens
northern house mosquito - (species) D
esterase A8 and B8
Culex pipiens
northern house mosquito - (species)
Published - Accepted by Curator
esterase B4
Xenobiotic resistance (insecticide; chlorpyrifos)
Gene Amplification,
Insertion
Culex pipiens
northern house mosquito - (species) D
Intraspecific
Candidate Gene
Poirié M; Raymond M; Pasteur N (1992)
Identification of two distinct amplifications of the esterase B locus in Culex pipiens (L.) mosquito[...]
GP00002639
B1
P16854
Physiology
The production of the esterase B is approximately 50- and 500-fold higher in mosquitoes from France and Cyprus (respectively) than in susceptible insects whereas the number of gene copies is about 25 and 250. Differences of about 7- and 95-fold were also found in the degree of chlorpyrifos resistance.
Culex pipiens
northern house mosquito - (species)
Culex pipiens
northern house mosquito - (species) D
esterase B4
Culex pipiens
northern house mosquito - (species)
Published - Accepted by Curator
esterase B5
Xenobiotic resistance (insecticide; chlorpyrifos)
Gene Amplification,
Insertion
Culex pipiens
northern house mosquito - (species) D
Intraspecific
Candidate Gene
Poirié M; Raymond M; Pasteur N (1992)
Identification of two distinct amplifications of the esterase B locus in Culex pipiens (L.) mosquito[...]
GP00002640
B1
P16854
Physiology
The production of the esterase B is approximately 50- and 500-fold higher in mosquitoes from France and Cyprus (respectively) than in susceptible insects whereas the number of gene copies is about 25 and 250. Differences of about 7- and 95-fold were also found in the degree of chlorpyrifos resistance.
Culex pipiens
northern house mosquito - (species)
Culex pipiens
northern house mosquito - (species) D
esterase B5
Culex pipiens
northern house mosquito - (species)
Published - Accepted by Curator
esterase FE4
Xenobiotic resistance (insecticide)
Gene Amplification,
Insertion
Myzus persicae
green peach aphid - (species) D
Intraspecific
Candidate Gene
Blackman RL; Spence JM; Field LM ; et al. (1999
)
Variation in the chromosomal distribution of amplified esterase (FE4) genes in Greek field populatio[...]
2 Additional References
GP00002642
P35502
Physiology
Gene amplification
Myzus persicae
green peach aphid - (species)
Myzus persicae
green peach aphid - (species) D
esterase FE4
Myzus persicae
green peach aphid - (species)
Published - Accepted by Curator
esterase NI-EST1
Xenobiotic resistance (organophosphorus insecticides)
Gene Amplification,
Insertion
Nilaparvata lugens
brown planthopper - (species) D
Intraspecific
Candidate Gene
Small GJ; Hemingway J (2000)
Molecular characterization of the amplified carboxylesterase gene associated with organophosphorus i[...]
GP00002638
Ces1
Q8VCC2
Physiology
Southern analysis of genomic DNA from the Sri Lankan OP-resistant and susceptible strains suggests that the Nl-EST1 esterase gene is amplified in the resistant strain
Nilaparvata lugens
brown planthopper - (species)
Nilaparvata lugens
brown planthopper - (species) D
esterase NI-EST1
Nilaparvata lugens
brown planthopper - (species)
Published - Accepted by Curator
esterase type I
Xenobiotic resistance (insecticide)
Gene Amplification,
Insertion
Schizaphis graminum
greenbug - (species) D
Intraspecific
Candidate Gene
Ono M; Swanson JJ; Field LM ; et al. (1999)
Amplification and methylation of an esterase gene associated with insecticide-resistance in greenbug[...]
1 Additional References
GP00002637
P35501
Physiology
The type I esterase is amplified 4- to 8-fold in resistant S. graminum and that the amplified sequences contain 5-methylcytosine at MspI/HpaII sites.
Schizaphis graminum
greenbug - (species)
Schizaphis graminum
greenbug - (species) D
esterase type I
Schizaphis graminum
greenbug - (species)
Published - Accepted by Curator
FAD2 (BnaA.FAD2.a)
Oil composition
Oil yield
Coding,
Insertion
N
Brassica napus
rape - (species) D
Domesticated
Linkage Mapping
Yang Q; Fan C; Guo Z ; et al. (2012)
Identification of FAD2 and FAD3 genes in Brassica napus genome and development of allele-specific ma[...]
GP00000302
FAD2
P46313
Physiology
Physiology
4bp insertion resulting in frameshift and premature stop codon N
Brassica napus
rape - (species)
Brassica napus
rape - (species) D
FAD2 (BnaA.FAD2.a)
Brassica napus
rape - (species)
Published - Accepted by Curator
FAD2B
Oil composition (oleate levels)
Coding,
Insertion
N
Arachis hypogaea
peanut - (species) D
Domesticated
Candidate Gene
Patel M; Jung S; Moore K ; et al. (2004)
High-oleate peanut mutants result from a MITE insertion into the FAD2 gene.
GP00002073
FAD2B
Q9LKK6
Physiology
insertion of 205-bp miniature inverted-repeat transposable element (MITE) called ahMITE1 at position 665 near the center of the coding region in the case of MF; which causes a frameshift N
Arachis hypogaea
peanut - (species)
Arachis hypogaea
peanut - (species) D
FAD2B
Arachis hypogaea
peanut - (species)
Published - Accepted by Curator
FAD2B
Oil composition (oleate levels)
Coding,
Insertion
N
Arachis hypogaea
peanut - (species) D
Domesticated
Candidate Gene
Patel M; Jung S; Moore K ; et al. (2004)
High-oleate peanut mutants result from a MITE insertion into the FAD2 gene.
GP00002074
FAD2B
Q9LKK6
Physiology
insertion of 205-bp miniature inverted-repeat transposable element (MITE) called ahMITE1 at position 997 of the coding region; which causes a frameshift N
Arachis hypogaea
peanut - (species)
Arachis hypogaea
peanut - (species) D
FAD2B
Arachis hypogaea
peanut - (species)
Published - Accepted by Curator
Fads2
Fatty acid metabolism (fatty acid desaturation)
Gene Amplification,
Insertion
Gasterosteus aculeatus
three-spined stickleback - (species) D
Interspecific
Linkage Mapping
Ishikawa A; Kabeya N; Ikeya K ; et al. (2019)
A key metabolic gene for recurrent freshwater colonization and radiation in fishes.
GP00001959
fads2
Q9DEX7
Physiology
Fads2 locus is duplicated in G. aculeatus increasing DHA intake and the propensity to invade of freshwater environments. The ancestral copy is on linkage group 19 and the derived copy is on linkage group 12.
Gasterosteus nipponicus
(species)
Gasterosteus aculeatus
three-spined stickleback - (species) D
Fads2
Gasterosteus aculeatus
three-spined stickleback - (species)
Published - Accepted by Curator
Fads2
Fatty acid metabolism (fatty acid desaturation)
Gene Amplification,
Insertion
Pungitius tymensis
Sakhalin sticlkeback - (species) D
Pungitius kaibarae
(species) D
Interspecific
Candidate Gene
Ishikawa A; Kabeya N; Ikeya K ; et al. (2019)
A key metabolic gene for recurrent freshwater colonization and radiation in fishes.
GP00002053
fads2
Q9DEX7
Physiology
higher number of copies of Fads2.
Pungitius pungitius
ninespine stickleback - (species)
Pungitius tymensis
Sakhalin sticlkeback - (species) D
Pungitius kaibarae
(species) D
Fads2
Pungitius tymensis
Sakhalin sticlkeback - (species)
Pungitius kaibarae
(species)
Published - Accepted by Curator
FGF4 retrogene
Limb size
Unknown,
Insertion
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Parker HG; VonHoldt BM; Quignon P ; et al. (2009)
An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs.
GP00000309
FGF4
J9P3I7
Morphology
Gene retroposition : 5kb insertion containing a FGF4 retrogene; 25Mb away from the complete (original) FGF4 gene
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
FGF4 retrogene
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
FGF5
Hair length (length)
Coding,
Insertion
N
Felis catus
domestic cat - (species) D
Domesticated
Candidate Gene
Drögemüller C; Rüfenacht S; Wichert B ; et al. (2007)
Mutations within the FGF5 gene are associated with hair length in cats.
1 Additional References
GP00002172
Fgf5
P15656
Morphology
c.ins356T resulting in frameshift N
Felis catus
domestic cat - (species)
Felis catus
domestic cat - (species) D
FGF5
Felis catus
domestic cat - (species)
Published - Accepted by Curator
FGF5
Hair length
Coding,
Insertion
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Dierks C; Mömke S; Philipp U ; et al. (2013)
Allelic heterogeneity of FGF5 mutations causes the long-hair phenotype in dogs.
1 Additional References
GP00002176
Fgf5
P15656
Morphology
c.559_560dupGG p.R188Afs*73
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
FGF5
Canis lupus familiaris
dog - (subspecies)
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'-hydroxylase (F3'H)
Coloration (flowers)
Coding,
Insertion
N
Ipomoea purpurea
common morning-glory - (species) D
Domesticated
Candidate Gene
Zufall RA; Rausher MD (2003 Nov-Dec)
The genetic basis of a flower color polymorphism in the common morning glory (Ipomoea purpurea).
3 Additional References
GP00000319
CYP75B1
Q9SD85
Morphology
insertion of the 0.55-kb DNA transposable element Tip201 belonging to the Ac/Ds superfamily. No excision of Tip201 from the F3'H gene could be detected. Both splicing and polyadenylation patterns of the F3'H transcripts were affected by the Tip201 integration. N
Ipomoea purpurea
common morning-glory - (species)
Ipomoea purpurea
common morning-glory - (species) D
flavonoid 3'-hydroxylase (F3'H)
Ipomoea purpurea
common morning-glory - (species)
Published - Accepted by Curator
flavonoid 3'-hydroxylase (F3'H)
Coloration (flowers)
Coding,
Insertion
N
Ipomoea tricolor
(species) D
Domesticated
Candidate Gene
Hoshino A; Morita Y; Choi JD ; et al. (2003)
Spontaneous mutations of the flavonoid 3'-hydroxylase gene conferring reddish flowers in the three m[...]
GP00002088
CYP75B1
Q9SD85
Morphology
a single T insertion generating the stop codon TAG. The accumulation of the F3'H transcripts is drastically reduced by the nonsense-mediated RNA decay. N
Ipomoea tricolor
(species)
Ipomoea tricolor
(species) D
flavonoid 3'-hydroxylase (F3'H)
Ipomoea tricolor
(species)
Published - Accepted by Curator
flavonoid 3';5'-hydroxylase (F3'5'H)
Coloration (flowers; pubescence; seeds)
Coding,
Insertion
N
Glycine soja
(species) D
Intraspecific
Candidate Gene
Guo Y; Qiu LJ (2013)
Allele-specific marker development and selection efficiencies for both flavonoid 3'-hydroxylase and [...]
GP00000322
CYP75A2
P37120
Morphology
53bp insertion at +1352 N
Glycine max
soybean - (species)
Glycine soja
(species) D
flavonoid 3';5'-hydroxylase (F3'5'H)
Glycine soja
(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
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
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
follistatin
Limb morphology (wing dimorphism)
Flight behavior (wing dimorphism)
Gene Amplification,
Insertion
Acyrthosiphon pisum
pea aphid - (species) D
Intraspecific
Linkage Mapping
Li B; Bickel RD; Parker BJ ; et al. (2020)
A large genomic insertion containing a duplicated follistatin gene is linked to the pea aphid male w[...]
GP00002138
Fs
Q86NV3
Morphology
Behavior
the api allele from winged males is a 120kb insertion that includes a copy of the follistatin gene
Acyrthosiphon pisum
pea aphid - (species)
Acyrthosiphon pisum
pea aphid - (species) D
follistatin
Acyrthosiphon pisum
pea aphid - (species)
Published - Accepted by Curator
February 9, 2021 22:00
FOXI3
Hair (hypotrichosis)
Coding,
Insertion
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Drögemüller C; Karlsson EK; Hytönen MK ; et al. (2008)
A mutation in hairless dogs implicates FOXI3 in ectodermal development.
GP00000351
FOXI3
B5RHS5
Morphology
Frameshift; 7-bp duplication within exon 1 N
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
FOXI3
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
FPN2
Metal tolerance
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Morrissey J; Baxter IR; Lee J ; et al. (2009)
The ferroportin metal efflux proteins function in iron and cobalt homeostasis in Arabidopsis.
GP00000354
IREG2
F4KGN5
Physiology
1bp insertion resulting in frameshift N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
FPN2
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Le Corre V; Roux F; Reboud X (2002)
DNA polymorphism at the FRIGIDA gene in Arabidopsis thaliana: extensive nonsynonymous variation is c[...]
GP00000361
FRI
P0DH90
Physiology
1bp insertion at 766 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Le Corre V; Roux F; Reboud X (2002)
DNA polymorphism at the FRIGIDA gene in Arabidopsis thaliana: extensive nonsynonymous variation is c[...]
1 Additional References
GP00000362
FRI
P0DH90
Physiology
Insertion 1 bp at 1454 in exon 1 N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Shindo C; Aranzana MJ; Lister C ; et al. (2005)
Role of FRIGIDA and FLOWERING LOCUS C in determining variation in flowering time of Arabidopsis.
GP00000371
FRI
P0DH90
Physiology
insertion; I490* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Frigida (FRI)
Flowering time
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Candidate Gene
Shindo C; Aranzana MJ; Lister C ; et al. (2005)
Role of FRIGIDA and FLOWERING LOCUS C in determining variation in flowering time of Arabidopsis.
GP00000372
FRI
P0DH90
Physiology
insertion; T258* N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Frigida (FRI)
Arabidopsis thaliana
thale cress - (species)
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
GLABROUS1
Trichome density (leaf)
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Hauser MT; Harr B; Schlötterer C (2001)
Trichome distribution in Arabidopsis thaliana and its close relative Arabidopsis lyrata: molecular a[...]
1 Additional References
GP00001240
GL1
P27900
Morphology
+1bp at position 352 causing premature stop N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
GLABROUS1
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
GLO(T)
Flower morphology (anther elevation)
Coding,
Insertion
N
Primula vulgaris
(species) D
Intraspecific
Linkage Mapping
Li J; Cocker JM; Wright J ; et al. (2016)
Genetic architecture and evolution of the S locus supergene in Primula vulgaris.
GP00001393
GLO
Q03378
Morphology
A 2.5 kb retrotransposon in exon 2 severely truncates the protein N
Primula vulgaris
(species)
Primula vulgaris
(species) D
GLO(T)
Primula vulgaris
(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
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
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
GPRC6A
Cell signaling (membrane receptor activity)
Coding,
Insertion
Homo sapiens
human - (species) D
Intraspecific
Candidate Gene
Jørgensen S; Have CT; Underwood CR ; et al. (2017)
Genetic Variations in the Human G Protein-coupled Receptor Class C, Group 6, Member A (GPRC6A) Contr[...]
GP00001669
GPRC6A
Q5T6X5
Physiology
insertion of KL (6 bp) resulting in sequence KGKKLY in the third intracellular loop (ICL3) with surface expression and function greatly reduced
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
GPRC6A
Homo sapiens
human - (species)
Published - Accepted by Curator
GSS (glutathione synthetase)
Xenobiotic resistance (arsenic)
Gene Amplification,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Chakraborty M; Emerson JJ; Macdonald SJ ; et al. (2019)
Structural variants exhibit widespread allelic heterogeneity and shape variation in complex traits.
1 Additional References
GP00002115
Gss2
Q86B44
Physiology
tandem duplication creating the Gss1/Gss2 gene pair. Associated with increased expression of Gss1.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
GSS (glutathione synthetase)
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
GST
Xenobiotic resistance (pyrethroid)
Gene Amplification,
Insertion
Nilaparvata lugens
brown planthopper - (species) D
Intraspecific
Candidate Gene
Vontas JG; Small GJ; Nikou DC ; et al. (2002)
Purification, molecular cloning and heterologous expression of a glutathione S-transferase involved [...]
GP00002643
GstD1
P20432
Physiology
nlgst1-1 is overexpressed in resistant insects. Southern analysis of genomic DNA from the resistant and susceptible strains indicated that GST-based insecticide resistance may be associated with gene amplification in N. lugens.
Nilaparvata lugens
brown planthopper - (species)
Nilaparvata lugens
brown planthopper - (species) D
GST
Nilaparvata lugens
brown planthopper - (species)
Published - Accepted by Curator
GW2
Grain size
Coding,
Insertion
N
Triticum aestivum
bread wheat - (species) D
Domesticated
Linkage Mapping
Yang Z; Bai Z; Li X ; et al. (2012)
SNP identification and allelic-specific PCR markers development for TaGW2, a gene linked to wheat ke[...]
GP00000425
GW2
A4GWX9
Morphology
1bp insertion resulting in premature stop codon N
Triticum aestivum
bread wheat - (species)
Triticum aestivum
bread wheat - (species) D
GW2
Triticum aestivum
bread wheat - (species)
Published - Accepted by Curator
Ha_BtR
Xenobiotic resistance (insecticide; Bt Cry1Ac toxin)
Coding,
Insertion
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Yang Y; Chen H; Wu S ; et al. (2006)
Identification and molecular detection of a deletion mutation responsible for a truncated cadherin o[...]
1 Additional References
GP00000428
ABCA2
A0A0S0G7V0
Physiology
Insertion of a LTR retrotransposon N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
Ha_BtR
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
Ha_BtR
Xenobiotic resistance (insecticide; Bt Cry1Ac toxin)
Coding,
Insertion
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Yang Y; Chen H; Wu S ; et al. (2006)
Identification and molecular detection of a deletion mutation responsible for a truncated cadherin o[...]
1 Additional References
GP00000429
ABCA2
A0A0S0G7V0
Physiology
Insertion of a LTR retrotransposon N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
Ha_BtR
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
Ha_BtR
Xenobiotic resistance (insecticide; Bt Cry1Ac toxin)
Coding,
Insertion
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Zhao J; Jin L; Yang Y ; et al. (2010)
Diverse cadherin mutations conferring resistance to Bacillus thuringiensis toxin Cry1Ac in Helicover[...]
1 Additional References
GP00000430
ABCA2
A0A0S0G7V0
Physiology
Insertion of an incomplete RNA transposon (1498bp) N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
Ha_BtR
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
Ha_BtR
Xenobiotic resistance (insecticide; Bt Cry1Ac toxin)
Coding,
Insertion
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Zhao J; Jin L; Yang Y ; et al. (2010)
Diverse cadherin mutations conferring resistance to Bacillus thuringiensis toxin Cry1Ac in Helicover[...]
1 Additional References
GP00000431
ABCA2
A0A0S0G7V0
Physiology
Insertion of a DNA transposon N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
Ha_BtR
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
Ha_BtR
Xenobiotic resistance (insecticide; Bt Cry1Ac toxin)
Coding,
Insertion
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Zhao J; Jin L; Yang Y ; et al. (2010)
Diverse cadherin mutations conferring resistance to Bacillus thuringiensis toxin Cry1Ac in Helicover[...]
1 Additional References
GP00000432
ABCA2
A0A0S0G7V0
Physiology
Insertion of a LTR retrotransposon N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
Ha_BtR
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
Ha_BtR
Xenobiotic resistance (insecticide; Bt Cry1Ac toxin)
Coding,
Insertion
N
Helicoverpa armigera
cotton bollworm - (species) D
Intraspecific
Candidate Gene
Zhao J; Jin L; Yang Y ; et al. (2010)
Diverse cadherin mutations conferring resistance to Bacillus thuringiensis toxin Cry1Ac in Helicover[...]
1 Additional References
GP00000433
ABCA2
A0A0S0G7V0
Physiology
Insertion of a LTR retrotransposon N
Helicoverpa armigera
cotton bollworm - (species)
Helicoverpa armigera
cotton bollworm - (species) D
Ha_BtR
Helicoverpa armigera
cotton bollworm - (species)
Published - Accepted by Curator
Hd1
Flowering time
Coding,
Insertion
N
Oryza sativa
rice - (species) D
Domesticated
Candidate Gene
Doi K; Izawa T; Fuse T ; et al. (2004)
Ehd1, a B-type response regulator in rice, confers short-day promotion of flowering and controls FT-[...]
GP00000439
HD1
Q9FDX8
Physiology
Retro-element-like inserted in exon 2 N
Oryza glaberrima
African rice - (species)
Oryza sativa
rice - (species) D
Hd1
Oryza sativa
rice - (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
HM1 = HC toxin reductase (HCTR) [possible pseudo-replicate from other Maize entry]
Pathogen resistance
Coding,
Insertion
N
Zea mays
(species) D
Domesticated
Linkage Mapping
Johal GS; Briggs SP (1992)
Reductase activity encoded by the HM1 disease resistance gene in maize.
1 Additional References
GP00000481
hm1
O49163
Physiology
256-bp transposable element insertion in exon 4 N
Zea mays
(species)
Zea mays
(species) D
HM1 = HC toxin reductase (HCTR) [possible pseudo-replicate from other Maize entry]
Zea mays
(species)
Published - Accepted by Curator
HM2 = HC toxin reductase (HCTR)
Pathogen resistance
Coding,
Insertion
N
Zea mays
(species) D
Domesticated
Candidate Gene
Chintamanani S; Multani DS; Ruess H ; et al. (2008)
Distinct mechanisms govern the dosage-dependent and developmentally regulated resistance conferred b[...]
GP00000483
hm2
B8QWA3
Physiology
8-bp insertion in exon 1 that disrupt the reading frame and introduces a stop codon shortly after the beginning of the gene N
Zea mays
(species)
Zea mays
(species) D
HM2 = HC toxin reductase (HCTR)
Zea mays
(species)
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
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
HSP90
Developmental time
Unknown,
Insertion
Locusta migratoria
migratory locust - (species) D
Intraspecific
Candidate Gene
Chen B; Zhang B; Xu L ; et al. (2017)
Transposable Element-Mediated Balancing Selection at Hsp90 Underlies Embryo Developmental Variation.
GP00002437
daf-21
Q18688
Physiology
an Lm1 SINE insertion in the third exon of the Hsp90 gene produces an alternative splicing form associated with faster development and higher developmental synchrony. Found by scanning Lm1 insertions in natural locust populations.
Locusta migratoria
migratory locust - (species)
Locusta migratoria
migratory locust - (species) D
HSP90
Locusta migratoria
migratory locust - (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
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
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
Coloration (coat ; white-spotting)
Coding,
Insertion
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Wong AK; Ruhe AL; Robertson KR ; et al. (2013)
A de novo mutation in KIT causes white spotting in a subpopulation of German Shepherd dogs.
GP00002228
Kit
P05532
Morphology
a 1-bp insertion of an adenine 70 bases downstream of the beginning of exon 2 resulting in frameshift N
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
Kit
Canis lupus familiaris
dog - (subspecies)
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)
2 Mutations:
Sus scrofa domesticus
domestic pig - (subspecies) D
Domesticated
Linkage Mapping
Marklund S; Kijas J; Rodriguez-Martinez H ; et al. (1998)
Molecular basis for the dominant white phenotype in the domestic pig.
3 Additional References
GP00000520
Kit
P05532
Morphology
2 mutations
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
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
L6
Pathogen resistance
Coding,
Insertion
N
Linum usitatissimum
flax - (species)
Intraspecific
Linkage Mapping
Lawrence GJ; Finnegan EJ; Ayliffe MA ; et al. (1995)
The L6 gene for flax rust resistance is related to the Arabidopsis bacterial resistance gene RPS2 an[...]
GP00000528
L6
Q40253
Physiology
Truncated protein due to insertion of a transposable element. Reversion to resistance among descendants of mutant X75 was associated with excision of the newly transposable element Ac. N
Linum usitatissimum
flax - (species)
Linum usitatissimum
flax - (species)
L6
Linum usitatissimum
flax - (species)
Published - Accepted by Curator
Lethal Hybrid rescue
Hybrid incompatibility (F1 male lethality)
Coding,
Insertion
Drosophila simulans
(species) D
Interspecific
Linkage Mapping
Brideau NJ; Flores HA; Wang J ; et al. (2006)
Two Dobzhansky-Muller genes interact to cause hybrid lethality in Drosophila.
2 Additional References
GP00000540
Lhr
Q95RV3
Physiology
16a.a. insertion with effect in sensitive background only (Maheshwari and Barbash 2012)
Drosophila melanogaster
fruit fly - (species)
Drosophila simulans
(species) D
Lethal Hybrid rescue
Drosophila simulans
(species)
Published - Accepted by Curator
LOC105383139
Courtship behavior
Other,
Insertion
Lepidoptera
butterflies and moths - (order) D
Intergeneric or Higher
Association Mapping
Li Y; Liu Z; Liu C ; et al. (2022)
HGT is widespread in insects and contributes to male courtship in lepidopterans.
GP00002412
Behavior
Horizontal Gene Transfer from Listeria bacteria to Lepidoptera of an entire gene coding region. The gene contains an alcohol dehydrogenase domain and a zinc-binding dehydrogenase domain.
Trichoptera
caddisflies - (order)
Lepidoptera
butterflies and moths - (order) D
LOC105383139
Lepidoptera
butterflies and moths - (order)
Published - Accepted by Curator
Low-density lipoprotein receptor-related protein 2
Organ size (eye; enlarged)
3 Mutations:
Coding
N
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.
GP00002349
LRP2
P98164
Morphology
3 mutations
Carassius auratus
goldfish - (species)
Carassius auratus
goldfish - (species) D
Low-density lipoprotein receptor-related protein 2
Carassius auratus
goldfish - (species)
Published - Accepted by Curator
Lysine histidine transporter 1
Pathogen resistance
Coding,
Insertion
N
Zea mays
(species) D
Domesticated
Linkage Mapping
Zhao Y; Lu X; Liu C ; et al. (2012)
Identification and fine mapping of rhm1 locus for resistance to Southern corn leaf blight in maize.
GP00000555
LHT1
Q9FKS8
Physiology
354bp insertioin resulting in premature stop codon N
Zea mays
(species)
Zea mays
(species) D
Lysine histidine transporter 1
Zea mays
(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
MC1R
Coloration (skin)
Coding,
Insertion
N
Sus scrofa domesticus
domestic pig - (subspecies) D
Domesticated
Linkage Mapping
Kijas JM; Moller M; Plastow G ; et al. (2001)
A frameshift mutation in MC1R and a high frequency of somatic reversions cause black spotting in pig[...]
1 Additional References
GP00000631
MC1R
Q01726
Morphology
2bp insertion at 23 generates early stop @ 56 & D"121"N ? N
Sus scrofa
pig - (species)
Sus scrofa domesticus
domestic pig - (subspecies) D
MC1R
Sus scrofa domesticus
domestic pig - (subspecies)
Published - Accepted by Curator
MCO
Metal tolerance (copper)
Gene Amplification,
Insertion
Erythranthe guttata
spotted monkey flower - (species) D
Intraspecific
Linkage Mapping
Wright KM; Lloyd D; Lowry DB ; et al. (2013)
Indirect evolution of hybrid lethality due to linkage with selected locus in Mimulus guttatus.
1 Additional References
GP00001814
LPR2
Q949X9
Physiology
several recent tandem duplications of this gene are responsible for the 12x increase in expression observed in copper tolerant lines - 6X fold enrichment of aligned reads at MCO
Erythranthe guttata
spotted monkey flower - (species)
Erythranthe guttata
spotted monkey flower - (species) D
MCO
Erythranthe guttata
spotted monkey flower - (species)
Published - Accepted by Curator
Melanophilin (MLPH)
Coloration (coat)
Coding,
Insertion
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Van Buren SL; Minor KM; Grahn RA ; et al. (2020)
A Third MLPH Variant Causing Coat Color Dilution in Dogs.
GP00002331
Mlph
Q91V27
Morphology
c.667_668insC p.(His223Profs*41) N
Canis lupus
gray wolf - (species)
Canis lupus familiaris
dog - (subspecies) D
Melanophilin (MLPH)
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
MFSD12
Coloration (coat)
Coding,
Insertion
N
Equus caballus
horse - (species) D
Domesticated
Association Mapping
Tanaka J; Leeb T; Rushton J ; et al. (2019)
Frameshift Variant in MFSD12 Explains the Mushroom Coat Color Dilution in Shetland Ponies.
GP00002243
MFSD12
Q6NUT3
Morphology
p.(Asp201fs) due to c.600Cins N
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
MFSD12
Equus caballus
horse - (species)
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
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
MLO
Pathogen resistance
Gene Amplification,
Insertion
Hordeum vulgare
(species) D
Domesticated
Linkage Mapping
Piffanelli P; Ramsay L; Waugh R ; et al. (2004)
A barley cultivation-associated polymorphism conveys resistance to powdery mildew.
GP00000672
MLO
P93766
Physiology
Tandem array duplication including promoter and partial CDS; resulting in loss-of-function by transcriptional interference
Hordeum vulgare
(species)
Hordeum vulgare
(species) D
MLO
Hordeum vulgare
(species)
Published - Accepted by Curator
Molybdenum transporter1 (MOT1)
Metal tolerance
Gene Amplification,
Insertion
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Association Mapping
Forsberg SK; Andreatta ME; Huang XY ; et al. (2015)
The Multi-allelic Genetic Architecture of a Variance-Heterogeneity Locus for Molybdenum Concentratio[...]
GP00000677
MOT1
Q9SL95
Physiology
330bp duplication followed by minor indels
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
Molybdenum transporter1 (MOT1)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
MTH1
Low-glucose adaptation (experimental evolution)
Coding,
Insertion
N
Saccharomyces cerevisiae
baker's yeast - (species) D
Experimental Evolution
Association Mapping
Gresham D; Desai MM; Tucker CM ; et al. (2008)
The repertoire and dynamics of evolutionary adaptations to controlled nutrient-limited environments [...]
GP00000680
CUP1-1
P0CX80
Physiology
Ty retrotranposition resulting in a coding frameshift N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
MTH1
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
mucilage-modified 2 (mum2)
Mucilage (seeds)
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Candidate Gene
Saez-Aguayo S; Rondeau-Mouro C; Macquet A ; et al. (2014)
Local evolution of seed flotation in Arabidopsis.
GP00001277
BGAL6
Q9FFN4
Physiology
TACA insertion @position 4906 causing frame shift + Stop N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
mucilage-modified 2 (mum2)
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
Multidrug resistance protein 1 (pvmdr1)
Xenobiotic resistance (mefloquine)
Gene Amplification,
Insertion
Plasmodium vivax
malaria parasite P. vivax - (species) D
Intraspecific
Association Mapping
Pearson RD; Amato R; Auburn S ; et al. (2016)
Genomic analysis of local variation and recent evolution in Plasmodium vivax.
GP00001482
B7STB0
Physiology
37 kb duplication on chromosome 10 that includes pvmdr1
Plasmodium vivax
malaria parasite P. vivax - (species)
Plasmodium vivax
malaria parasite P. vivax - (species) D
Multidrug resistance protein 1 (pvmdr1)
Plasmodium vivax
malaria parasite P. vivax - (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
Myostatin (MSTN = GDF8)
Muscular mass (double muscling)
Coding,
Insertion
N
Ovis aries
sheep - (species) D
Domesticated
Candidate Gene
Boman IA; Våge DI (2009)
An insertion in the coding region of the myostatin (MSTN) gene affects carcass conformation and fatn[...]
GP00000694
MSTN
O14793
Morphology
1bp insertion resulting in premature stop codon at position 49 N
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
Myostatin (MSTN = GDF8)
Ovis aries
sheep - (species)
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
NAM-B1 (=Gpc-B1)
Grain content
Senescence (grain)
Coding,
Insertion
N
Triticum turgidum
(species) D
Domesticated
Linkage Mapping
Uauy C; Distelfeld A; Fahima T ; et al. (2006)
A NAC Gene regulating senescence improves grain protein, zinc, and iron content in wheat.
GP00000717
NAM-B1
A0SPJ4
Physiology
Physiology
1bp insertion resulting in frameshift N
Triticum turgidum
(species)
Triticum turgidum
(species) D
NAM-B1 (=Gpc-B1)
Triticum turgidum
(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
Oca2
Coloration (albinism)
Coding,
Insertion
N
Pantherophis guttatus
(species) D
Intraspecific
Linkage Mapping
Saenko SV; Lamichhaney S; Martinez Barrio A ; et al. (2015)
Amelanism in the corn snake is associated with the insertion of an LTR-retrotransposon in the OCA2 g[...]
GP00001619
OCA2
Q04671
Morphology
insertion of an LTR-retrotransposon (5832-bp) in the 11th intron resulting after splicing in an additional 397-bp fragment constituted of 3 new exons inserted between exons 11 and 12. Generates truncated protein with two stop codons N
Pantherophis guttatus
(species)
Pantherophis guttatus
(species) D
Oca2
Pantherophis guttatus
(species)
Published - Accepted by Curator
Oca2
Coloration (albinism)
Coding,
Insertion
N
Carassius auratus
goldfish - (species) D
Domesticated
Candidate Gene
Kon T; Omori Y; Fukuta K ; et al. (2020)
The Genetic Basis of Morphological Diversity in Domesticated Goldfish.
GP00002351
Oca2
Q62052
Morphology
1-bp insert creating a frameshift and a truncated protein (470 amino acids instead of 805). In oca2L ohnolog on chromosome LG6. N
Carassius auratus
goldfish - (species)
Carassius auratus
goldfish - (species) D
Oca2
Carassius auratus
goldfish - (species)
Published - Accepted by Curator
OCYMENE SYNTHASE (OS)
Fragrance (floral terpenoid volatiles; E- beta-ocimene)
Coding,
Insertion
N
Erythranthe bicolor
(species) D
Interspecific
Candidate Gene
Peng F; Byers KJRP; Bradshaw HD (2017)
Less is more: Independent loss-of-function OCIMENE SYNTHASE alleles parallel pollination syndrome di[...]
GP00001763
TPS02
P0CJ43
Physiology
2-bp insertion in the second exon, producing a frameshift mutation and premature termination N
Erythranthe lewisii
(species)
Erythranthe bicolor
(species) D
OCYMENE SYNTHASE (OS)
Erythranthe bicolor
(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
opsin - rhodopsin (LWS)
Color vision
Coding,
Insertion
N
Mesoplodon bidens
Sowerby's beaked whale - (species) D
Intergeneric or Higher
Candidate Gene
Meredith RW; Gatesy J; Emerling CA ; et al. (2013)
Rod monochromacy and the coevolution of cetacean retinal opsins.
GP00000774
OPN1LW
P04000
Physiology
4bp frameshift insertion in exon 2 of LWS N
Cetacea
whales - (order)
Mesoplodon bidens
Sowerby's beaked whale - (species) D
opsin - rhodopsin (LWS)
Mesoplodon bidens
Sowerby's beaked whale - (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
P2RY5
Hair type (woolly)
Coding,
Insertion
N
Homo sapiens
human - (species) D
Intraspecific
Association Mapping
Shimomura Y; Wajid M; Ishii Y ; et al. (2008)
Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair[...]
GP00000817
LPAR6
P43657
Morphology
at position 69 insertion of 4bp CATG - causes frameshift at codon 24 (PTC +29) N
Homo sapiens
human - (species)
Homo sapiens
human - (species) D
P2RY5
Homo sapiens
human - (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
PHO5
Low-phosphate adaptation (experimental evolution)
Gene Amplification,
Insertion
Saccharomyces cerevisiae
baker's yeast - (species)
Experimental Evolution
Association Mapping
Gresham D; Desai MM; Tucker CM ; et al. (2008)
The repertoire and dynamics of evolutionary adaptations to controlled nutrient-limited environments [...]
GP00000864
PHO5
P00635
Physiology
Gene duplication. Out of 8 lines; 2 distinct lines evolved structural variation at PHO5. (Interestingly; one was a deletion and another one was a gene amplification)
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species)
PHO5
Saccharomyces cerevisiae
baker's yeast - (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
phytochrome A (PHYA)
Light sensitivity
High-altitude adaptation
Coding,
Insertion
N
Glycine max
soybean - (species) D
Domesticated
Candidate Gene
Liu B; Kanazawa A; Matsumura H ; et al. (2008)
Genetic redundancy in soybean photoresponses associated with duplication of the phytochrome A gene.
1 Additional References
GP00002104
PHYA
P14712
Physiology
Physiology
insertion of a retrotransposon in exon 1 - The transposable element is SORE-1 = a novel Ty1/copia-like retrotransposon in soybean N
Glycine max
soybean - (species)
Glycine max
soybean - (species) D
phytochrome A (PHYA)
Glycine max
soybean - (species)
Published - Accepted by Curator
phytoene synthase
Carotenoid content (fruit)
Coding,
Insertion
N
Solanum lycopersicum
tomato - (species) D
Domesticated
Linkage Mapping
Fray RG; Grierson D (1993)
Identification and genetic analysis of normal and mutant phytoene synthase genes of tomato by sequen[...]
1 Additional References
GP00001718
PSY1
P49085
Physiology
insertion of a Rider transposable element within the coding region N
Solanum lycopersicum
tomato - (species)
Solanum lycopersicum
tomato - (species) D
phytoene synthase
Solanum lycopersicum
tomato - (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
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
plg-1
Copulatory plug
Coding,
Insertion
N
Caenorhabditis elegans
(species) D
Intraspecific
Linkage Mapping
Palopoli MF; Rockman MV; TinMaung A ; et al. (2008)
Molecular basis of the copulatory plug polymorphism in Caenorhabditis elegans.
GP00000898
Physiology
insertion of transposable element in an exon N
Caenorhabditis elegans
(species)
Caenorhabditis elegans
(species) D
plg-1
Caenorhabditis elegans
(species)
Published - Accepted by Curator
PMEI6
Mucilage (seeds)
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Saez-Aguayo S; Rondeau-Mouro C; Macquet A ; et al. (2014)
Local evolution of seed flotation in Arabidopsis.
1 Additional References
GP00001272
AXX17_At2g45450
A0A178VVA1
Physiology
frameshift mutation due to a 1-bp insertion 581 bp after the ATG codon that changed amino acids 194 to 205 followed by the introduction of a stop codon N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
PMEI6
Arabidopsis thaliana
thale cress - (species)
Published - Accepted by Curator
PMEL17
Coloration (feathers)
Coding,
Insertion
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Kerje S; Sharma P; Gunnarsson U ; et al. (2004)
The Dominant white, Dun and Smoky color variants in chicken are associated with insertion/deletion p[...]
GP00000913
PMEL
Q98917
Morphology
insertion of amino acid 723-725 due to a 9bp-insert in exon 10
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
PMEL17
Gallus gallus
chicken - (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)
Coding,
Insertion
Mus musculus
house mouse - (species) D
Domesticated
Linkage Mapping
Kwon BS; Halaban R; Ponnazhagan S ; et al. (1995)
Mouse silver mutation is caused by a single base insertion in the putative cytoplasmic domain of Pme[...]
GP00002101
Pmel
Q60696
Morphology
single nucleotide (A) insertion in the putative cytoplasmic tail of the si/si Pmel 17 cDNA clone. This insertion is predicted to alter the last 24 amino acids at the C-terminus. Also predicted is the extension of the Pmel 17 protein by 12 residues because a new termination signal is created downstream from the wild-type reading frame. The silver pmel 17 protein has a major defect at the carboxyl terminus.
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species) D
PMEL17
Mus musculus
house mouse - (species)
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,
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,
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
Prolactin receptor
Feather (slow-feathering ; delay)
Other,
Insertion
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Elferink MG; Vallée AA; Jungerius AP ; et al. (2008)
Partial duplication of the PRLR and SPEF2 genes at the late feathering locus in chicken.
1 Additional References
GP00002280
PRLR
P16471
Morphology
tandem duplication of 176324 basepairs resulting in a partially duplicated PRLR (dPRLR) gene nearly identical to the original PRLR ; except for its lack of a 149-amino acid C-terminal tail - which may titrate PRL ligands and act as a dominant-negative receptor
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
Prolactin receptor
Gallus gallus
chicken - (species)
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
PVX_101445
Xenobiotic resistance (chloroquine)
Gene Amplification,
Insertion
Plasmodium vivax
malaria parasite P. vivax - (species) D
Intraspecific
Association Mapping
Pearson RD; Amato R; Auburn S ; et al. (2016)
Genomic analysis of local variation and recent evolution in Plasmodium vivax.
GP00001483
PVX_101445
A5K913
Physiology
3 kb duplication on chromosome 14 that includes PVX_101445
Plasmodium vivax
malaria parasite P. vivax - (species)
Plasmodium vivax
malaria parasite P. vivax - (species) D
PVX_101445
Plasmodium vivax
malaria parasite P. vivax - (species)
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
r1 colored1
Coloration (seeds)
Unknown,
Insertion
Zea mays
(species) D
Domesticated
Linkage Mapping
Hanson MA; Gaut BS; Stec AO ; et al. (1996)
Evolution of anthocyanin biosynthesis in maize kernels: the role of regulatory and enzymatic loci.
1 Additional References
GP00000947
Z138B04_Z333J11.11
Q8S483
Morphology
insertion of transposable element Ac
Zea mays
(species)
Zea mays
(species) D
r1 colored1
Zea mays
(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
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
resistance to dieldrin
Xenobiotic resistance (insecticide)
Gene Amplification,
Insertion
Drosophila melanogaster
fruit fly - (species)
Intraspecific
Candidate Gene
Remnant EJ; Good RT; Schmidt JM ; et al. (2013)
Gene duplication in the major insecticide target site, Rdl, in Drosophila melanogaster.
GP00002452
Rdl
P25123
Physiology
113-kb duplication containing one WT copy of Rdl and a second copy with two point mutations: an Ala(301) to Ser resistance mutation and Met(360) to Ile replacement. Individuals with this duplication exhibit intermediate dieldrin resistance compared with single copy Ser(301) homozygotes and reduced temperature sensitivity and altered RNA editing associated with the resistant allele. Ectopic recombination between Roo transposable elements is involved in generating this genomic rearrangement. The duplication phenotypes were confirmed by construction of a transgenic artificial duplication integrating the 55.7-kb Rdl locus with a Ser(301) change into an Ala(301) background.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species)
resistance to dieldrin
Drosophila melanogaster
fruit fly - (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
RPS2
Pathogen resistance
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species) D
Intraspecific
Linkage Mapping
Mindrinos M; Katagiri F; Yu GL ; et al. (1994)
The A. thaliana disease resistance gene RPS2 encodes a protein containing a nucleotide-binding site [...]
GP00001011
RPS2
Q42484
Physiology
10bp insertion close to the 5' end causing a frameshift N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species) D
RPS2
Arabidopsis thaliana
thale cress - (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
RXFP2
Horns absence
Somatic sex change
Gene Amplification,
Insertion
Ovis aries
sheep - (species)
Domesticated
Linkage Mapping
Johnston SE; Gratten J; Berenos C ; et al. (2013)
Life history trade-offs at a single locus maintain sexually selected genetic variation.
1 Additional References
GP00001019
RXFP2
Q8WXD0
Morphology
Physiology
1833-bp genomic insertion located in the 3'-UTR region of RXFP2
Ovis aries
sheep - (species)
Ovis aries
sheep - (species)
RXFP2
Ovis aries
sheep - (species)
Published - Accepted by Curator
SCRB15
Coloration (silk; carotenoids)
Coding,
Insertion
N
Bombyx mori
domestic silkworm - (species) D
Domesticated
Linkage Mapping
Sakudoh T; Kuwazaki S; Iizuka T ; et al. (2013)
CD36 homolog divergence is responsible for the selectivity of carotenoid species migration to the si[...]
GP00001904
SCRB15
K7ZRZ1
Morphology
In the F mutant SCRB15 mRNA structure was severely disrupted due to a 1.4 kb genomic insertion in a coding exon N
Bombyx mori
domestic silkworm - (species)
Bombyx mori
domestic silkworm - (species) D
SCRB15
Bombyx mori
domestic silkworm - (species)
Published - Accepted by Curator
Serine/threonine protein kinase RIM15
Nitrogen use (growth efficiency)
Coding,
Insertion
N
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.
GP00001500
RIM15
P43565
Physiology
2 bp insertion 459_460insCA shifting the reading frame to cause an early stop codon (null allele) N
Saccharomyces cerevisiae
baker's yeast - (species)
Saccharomyces cerevisiae
baker's yeast - (species) D
Serine/threonine protein kinase RIM15
Saccharomyces cerevisiae
baker's yeast - (species)
Published - Accepted by Curator
SGK3
Hair (hypotrichosis)
Coding,
Insertion
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Association Mapping
Hytönen MK; Lohi H (2019)
A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate g[...]
1 Additional References
GP00002263
Sgk3
Q9ERE3
Morphology
c.137_138insT p.Glu47GlyfsTer3 N
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
SGK3
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
Shattering1 - OsSh1
Seed shattering
Unknown,
Insertion
Oryza sativa
rice - (species) D
Domesticated
Association Mapping
Lin Z; Li X; Shannon LM ; et al. (2012)
Parallel domestication of the Shattering1 genes in cereals.
2 Additional References
GP00001039
YAB2
Q10FZ7
Physiology
>4kb insertion in intron (unclear)
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
Shattering1 - OsSh1
Oryza sativa
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)
Coding,
Insertion
Oryzias latipes
Japanese medaka - (species) D
Domesticated
Linkage Mapping
Fukamachi S; Shimada A; Shima A (2001)
Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka.
GP00002286
SLC45A2
Q9UMX9
Morphology
tandem insertion of 195 nt identical to the adjacent ORF sequence. This tandem repeat produces an insertion of 65 amino acids
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
SlMYBATV
Coloration (anthocyanin accumulation in fruits)
Coding,
Insertion
N
Solanum cheesmaniae
(species) D
Intraspecific
Linkage Mapping
Cao X; Qiu Z; Wang X ; et al. (2017)
A putative R3 MYB repressor is the candidate gene underlying atroviolacium, a locus for anthocyanin [...]
GP00001906
CPC
O22059
Morphology; Physiology
SlMYBATV encodes a R3 MYB transcription factor. 4-bp insertion predicted to result in a frame-shift that would alter the protein sequence from amino-acid position 20 onwards by inducing premature termination of translation including the R3/bHLH-binding domain N
Solanum lycopersicum
tomato - (species)
Solanum cheesmaniae
(species) D
SlMYBATV
Solanum cheesmaniae
(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
SOD1
Xenobiotic resistance (paraquat)
Coding,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Vontas JG; Tsakas SC; Loukas M ; et al. (2001)
Low-activity allele of copper-zinc superoxide dismutase (CuZnSOD) in Drosophila increases paraquat g[...]
GP00001985
Sod1
P61851
Physiology
Insertion of a 0.68kb truncated P-element 47bp downstream of the transcription start site.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
SOD1
Drosophila melanogaster
fruit fly - (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
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
Starch branching enzyme (SBEI) = rugosus (R)
Starch structure
Seed aspect
Coding,
Insertion
N
Pisum sativum
pea - (species) D
Domesticated
Linkage Mapping
Bhattacharyya MK; Smith AM; Ellis TH ; et al. (1990)
The wrinkled-seed character of pea described by Mendel is caused by a transposon-like insertion in a[...]
GP00001078
SBEI
Q41058
Physiology
Morphology
800 bp TE insertion; probably disrupts the last 61 amino acids of the SBEI protein N
Pisum sativum
pea - (species)
Pisum sativum
pea - (species) D
Starch branching enzyme (SBEI) = rugosus (R)
Pisum sativum
pea - (species)
Published - Accepted by Curator
StCDF1
Latitudinal adaptation
Coding,
Insertion
N
Solanum tuberosum
potato - (species) D
Domesticated
Linkage Mapping
Kloosterman B; Abelenda JA; Gomez Mdel M ; et al. (2013)
Naturally occurring allele diversity allows potato cultivation in northern latitudes.
GP00001079
CDF1
Q8W1E3
Physiology
+7bp insertion resulting in frameshift and truncated protein N
Solanum tuberosum
potato - (species)
Solanum tuberosum
potato - (species) D
StCDF1
Solanum tuberosum
potato - (species)
Published - Accepted by Curator
StCDF1
Latitudinal adaptation
Coding,
Insertion
Solanum tuberosum
potato - (species) D
Domesticated
Linkage Mapping
Kloosterman B; Abelenda JA; Gomez Mdel M ; et al. (2013)
Naturally occurring allele diversity allows potato cultivation in northern latitudes.
GP00001080
CDF1
Q8W1E3
Physiology
865bp insertion leading to a fusion protein
Solanum tuberosum
potato - (species)
Solanum tuberosum
potato - (species) D
StCDF1
Solanum tuberosum
potato - (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
Taqpep
Coloration (coat)
Coding,
Insertion
N
Acinonyx jubatus
cheetah - (species) D
Intraspecific
Candidate Gene
Kaelin CB; Xu X; Hong LZ ; et al. (2012)
Specifying and sustaining pigmentation patterns in domestic and wild cats.
GP00001105
Lvrn
Q2KHK3
Morphology
1bp insertion resulting in frameshift p.N977Kfs110 N
Acinonyx jubatus
cheetah - (species)
Acinonyx jubatus
cheetah - (species) D
Taqpep
Acinonyx jubatus
cheetah - (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
timeless (tim)
Diapause
Locomotor activity
Coding,
Insertion
N
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Tauber E; Zordan M; Sandrelli F ; et al. (2007)
Natural selection favors a newly derived timeless allele in Drosophila melanogaster.
1 Additional References
GP00001129
TIMELESS
Q9UNS1
Physiology
Behavior; Physiology
1bp insertion; allows production of longer protein from upstream start codon N
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
timeless (tim)
Drosophila melanogaster
fruit fly - (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
TRIM5alpha-CypA chimeric gene
Pathogen resistance (retroviruses)
Other,
Insertion
Aotus
night monkeys - (genus)
Intergeneric or Higher
Candidate Gene
Sayah DM; Sokolskaja E; Berthoux L ; et al. (2004)
Cyclophilin A retrotransposition into TRIM5 explains owl monkey resistance to HIV-1.
1 Additional References
GP00001136
TRIM5
Q9C035
Physiology
LINE-mediated retrotransposition of the CyclophilinA gene between exons 7 and 8 of TRIM5alpha
Platyrrhini
New World monkeys - (parvorder)
Aotus
night monkeys - (genus)
TRIM5alpha-CypA chimeric gene
Aotus
night monkeys - (genus)
Published - Accepted by Curator
TRIM5alpha-CypA chimeric gene
Pathogen resistance (retroviruses)
Other,
Insertion
Macaca
macaques - (genus)
Intergeneric or Higher
Candidate Gene
Stoye JP; Yap MW (2008)
Chance favors a prepared genome.
GP00001137
TRIM5
Q9C035
Physiology
LINE-mediated retrotransposition of the CyclophilinA gene into 3'UTR (exon 8) of TRIM5alpha
Cercopithecidae
Old World monkeys - (family)
Macaca
macaques - (genus)
TRIM5alpha-CypA chimeric gene
Macaca
macaques - (genus)
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
tryptophan phenylalanine hydroxylase
Enzymatic activity
Coding,
Insertion
Drosophila melanogaster
fruit fly - (species) D
Intraspecific
Candidate Gene
Ruiz-Vázquez P; Silva FJ (1999)
Aberrant splicing of the Drosophila melanogaster phenylalanine hydroxylase pre-mRNA caused by the in[...]
GP00002003
Hn
P17276
Physiology
insertion of the transposable element B104/roo in the exon 3 of the Phenylalanine hydroxylase gene. Its presence alters the Phenylalanine hydroxylase splicing pattern; producing at least two aberrant mRNAs which contain part of the B104 sequence interrupting the coding region. This aberrant splicing is provoked by the use of a cryptic donor site encoded by the B104 3' long terminal repeat in combination with either the gene intron 3 acceptor site or a novel acceptor site generated by the target duplication caused by transposition. One of them; referred as mRNA type 1; encodes a truncated protein that could be predictably non-functional. In mRNA type 2; in spite of a 42 nt insertion; the Phenylalanine hydroxylase reading frame is not altered and it would encode for a protein with 14 extra amino acids which would be able to account for the low enzyme activity detected in this mutant.
Drosophila melanogaster
fruit fly - (species)
Drosophila melanogaster
fruit fly - (species) D
tryptophan phenylalanine hydroxylase
Drosophila melanogaster
fruit fly - (species)
Published - Accepted by Curator
TT8
Coloration (seed)
Coding,
Insertion
N
Brassica rapa
field mustard - (species) D
Domesticated
Linkage Mapping
Li X; Chen L; Hong M ; et al. (2012)
A large insertion in bHLH transcription factor BrTT8 resulting in yellow seed coat in Brassica rapa.
GP00002077
TT8
Q9FT81
Morphology
insertion of a Helitron transposon of 4320 bp in intron 2 starting with 5' TC and ending with 3'CTAG containing a 17 bp palindromic region forming a hairpin - prevents transcription N
Brassica rapa
field mustard - (species)
Brassica rapa
field mustard - (species) D
TT8
Brassica rapa
field mustard - (species)
Published - Accepted by Curator
Tva
Pathogen resistance (virus)
Coding,
Insertion
N
Gallus gallus
chicken - (species) D
Intraspecific
Candidate Gene
Elleder D; Melder DC; Trejbalova K ; et al. (2004)
Two different molecular defects in the Tva receptor gene explain the resistance of two tvar lines of[...]
GP00002257
tva
Q6JBY7
Physiology
c.48insCTCG N
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
Tva
Gallus gallus
chicken - (species)
Published - Accepted by Curator
Twist1
Horn shape (scurs)
Coding,
Insertion
N
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Capitan A; Grohs C; Weiss B ; et al. (2011)
A newly described bovine type 2 scurs syndrome segregates with a frame-shift mutation in TWIST1.
GP00002034
Twist1
P26687
Morphology; Physiology
small duplication (c.148_157dup (p.A56RfsX87)) that causes a frameshift and inactivates the gene. N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
Twist1
Bos taurus
cattle - (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 (TYR)
Coloration (feathers)
Coding,
Insertion
Gallus gallus
chicken - (species) D
Domesticated
Candidate Gene
Chang CM; Coville JL; Coquerelle G ; et al. (2006)
Complete association between a retroviral insertion in the tyrosinase gene and the recessive white m[...]
GP00002309
Tyr
P11344
Morphology
insertion of a complete avian retroviral sequence in intron 4 causes aberrant transcripts lacking exon 5
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
tyrosinase (TYR)
Gallus gallus
chicken - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (coat)
Coding,
Insertion
N
Bos taurus
cattle - (species) D
Domesticated
Candidate Gene
Schmutz SM; Berryere TG; Ciobanu DC ; et al. (2004)
A form of albinism in cattle is caused by a tyrosinase frameshift mutation.
GP00002315
Tyr
P11344
Morphology
c.925_926insC N
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
tyrosinase (TYR)
Bos taurus
cattle - (species)
Published - Accepted by Curator
tyrosinase (TYR)
Coloration (amelanism)
Coding,
Insertion
N
Oryzias latipes
Japanese medaka - (species) D
Domesticated
Candidate Gene
Koga A; Hori H (1997)
Albinism due to transposable element insertion in fish.
GP00002372
Tyr
P11344
Morphology
"i4 allele was found to contain a 4.7- kb transposable element in the 5th exon"
"Tyr-i4 contains a 4.7-kb insertion in exon 5 (Fig. 3). If the inserted fragment was transcribed, the amino acid sequence would be altered after the 469th residue, with a termination codon (UAG) at amino acid position 471. The i4/i4 genotype exhibits a quasi-albino phenotype. This may be explained by generation of a tyrosinase protein that only lacks its C-terminus region. The wild-type tyrosinase has a highly hydrophobic amino acid block at its C terminus (aa 480 - aa 500) which is thought to be part of a membrane spanning domain (Inagaki et al., 1994). A possible explanation is that the mutant tyrosinase encoded by Tyr- i4 lacks this region, so that it cannot be positioned properly on the membrane" N
Oryzias latipes
Japanese medaka - (species)
Oryzias latipes
Japanese medaka - (species) D
tyrosinase (TYR)
Oryzias latipes
Japanese medaka - (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
tyrosinase-related protein 1 (TYRP1)
Coloration (feathers)
Coding,
Insertion
N
Falco cherrug
Saker falcon - (species) D
Intraspecific
Candidate Gene
Cortimiglia C; Castiglioni B; Pizzi F ; et al. (2017)
Involvement of tyrosinase-related protein 1 gene in the light brown plumage phenotype of Falco cherr[...]
GP00002285
Tyrp1
P07147
Morphology
c.79_80insT in exon 1 resulting in a frameshift change and a premature stop codon at position 81 of the deduced protein sequence ; which in the wild-type form contains 536 amino acids N
Falco cherrug
Saker falcon - (species)
Falco cherrug
Saker falcon - (species) D
tyrosinase-related protein 1 (TYRP1)
Falco cherrug
Saker falcon - (species)
Published - Accepted by Curator
TZP
Plant growth (hypocotyl growth - light and temperature dependant)
Coding,
Insertion
N
Arabidopsis thaliana
thale cress - (species)
Intraspecific
Linkage Mapping
Loudet O; Michael TP; Burger BT ; et al. (2008)
A zinc knuckle protein that negatively controls morning-specific growth in Arabidopsis thaliana.
GP00001269
TZP
Q9FIX7
Morphology
8bp insertion causing premature stop N
Arabidopsis thaliana
thale cress - (species)
Arabidopsis thaliana
thale cress - (species)
TZP
Arabidopsis thaliana
thale cress - (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
VRS1 = SIX-ROWED SPIKE 1
Plant architecture
Inflorescence architecture
Coding,
Insertion
N
Hordeum vulgare
(species) D
Domesticated
Linkage Mapping
Komatsuda T; Pourkheirandish M; He C ; et al. (2007)
Six-rowed barley originated from a mutation in a homeodomain-leucine zipper I-class homeobox gene.
1 Additional References
GP00001190
Vrs1
A1IHK8
Morphology
Morphology
1bp insertion resulting in frameshift N
Hordeum vulgare
(species)
Hordeum vulgare
(species) D
VRS1 = SIX-ROWED SPIKE 1
Hordeum vulgare
(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,
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
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
Coding,
Insertion
N
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[...]
GP00001201
waxy
Q8L699
Physiology
Transposon insertion TS1-7 (Exon 3) N
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
Coding,
Insertion
N
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[...]
GP00001202
waxy
Q8L699
Physiology
Transposon insertion TS1-9 (Exon 10) N
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 (glutinous rice)
Coding,
Insertion
N
Oryza sativa
rice - (species) D
Domesticated
Candidate Gene
Hori Y; Fujimoto R; Sato Y ; et al. (2007)
A novel wx mutation caused by insertion of a retrotransposon-like sequence in a glutinous cultivar o[...]
GP00002069
waxy
Q8L699
Physiology
23-bp duplication in the second exon which causes loss of the function of granule-bound starch synthase (GBSS) encoded by the Wx gene N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
Waxy /GBSS
Oryza sativa
rice - (species)
Published - Accepted by Curator
Waxy /GBSS
Amylose content (glutinous rice)
Coding,
Insertion
N
Oryza sativa
rice - (species) D
Domesticated
Candidate Gene
Hori Y; Fujimoto R; Sato Y ; et al. (2007)
A novel wx mutation caused by insertion of a retrotransposon-like sequence in a glutinous cultivar o[...]
GP00002070
waxy
Q8L699
Physiology
insertion of 7764 bp in the ninth exon of the wx gene. Transcripts of the 'Oragamochi' wx allele are about 1-kb shorter and the deduced amino acid sequence of the transcript lacks a motif important for GBSS. The 7,764-bp insertion is a retrotransposon-like sequence with long terminal repeats; a primer binding site and a polypurine tract N
Oryza sativa
rice - (species)
Oryza sativa
rice - (species) D
Waxy /GBSS
Oryza sativa
rice - (species)
Published - Accepted by Curator
WDR1
Coloration (flowers)
Coding,
Insertion
N
Petunia axillaris
(species) D
Domesticated
Candidate Gene
de Vetten N; Quattrocchio F; Mol J ; et al. (1997)
The an11 locus controlling flower pigmentation in petunia encodes a novel WD-repeat protein conserve[...]
GP00002093
InWDR1
Q1JUZ7
Morphology
insertion of a 300-bp dTph1 transposon in the WDR gene in the first WD-repeat (321-bp downstream of the transcription start site) N
Petunia axillaris
(species)
Petunia axillaris
(species) D
WDR1
Petunia axillaris
(species)
Published - Accepted by Curator
Y
Coloration (fruit)
Coding,
Insertion
Sorghum bicolor
sorghum - (species) D
Domesticated
Candidate Gene
Chopra S; Brendel V; Zhang J ; et al. (1999)
Molecular characterization of a mutable pigmentation phenotype and isolation of the first active tra[...]
GP00002068
P1
O24579
Morphology
insertion of a transposable element named Candystripe1 (Cs1) in the second intron of the Y gene - Cs1 is 23,018 bp in size and is bordered by 20-bp terminal inverted repeat sequences. It generated a 3-bp target site duplication upon insertion within the Y gene. Cs1 shares features of the CACTA superfamily of transposons.
Sorghum bicolor
sorghum - (species)
Sorghum bicolor
sorghum - (species) D
Y
Sorghum bicolor
sorghum - (species)
Published - Accepted by Curator
yellow
Coloration (body; wing)
Coding,
Insertion
N
Musca domestica
house fly - (species) D
Intraspecific
Candidate Gene
Heinze SD; Kohlbrenner T; Ippolito D ; et al. (2017)
CRISPR-Cas9 targeted disruption of the yellow ortholog in the housefly identifies the brown body loc[...]
GP00002623
y
P09957
Morphology
a 4 bp insertion at amino acid position 67 that causes a frameshift and a premature stop codon N
Musca domestica
house fly - (species)
Musca domestica
house fly - (species) D
yellow
Musca domestica
house fly - (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
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