GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00002342
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
WT
Trait State in Taxon B
Almond phenotype in Stripper breed and other depigmentation traits in other breeds(allelic series)
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
rock pigeon
Synonyms
Columba livia domestica; rock pigeon; carrier pigeon; domestic pigeon; rock dove; Columba livia Gmelin, JF, 1789
Rank
species
Lineage
Show more ... erygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Sauropsida; Sauria; Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda; Coelurosauria; Aves; Neognathae; Columbiformes; Columbidae; Columba
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
rock pigeon
Synonyms
Columba livia domestica; rock pigeon; carrier pigeon; domestic pigeon; rock dove; Columba livia Gmelin, JF, 1789
Rank
species
Lineage
Show more ... erygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Sauropsida; Sauria; Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda; Coelurosauria; Aves; Neognathae; Columbiformes; Columbidae; Columba
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Generic Gene Name
MLANA
Synonyms
MART1; MART-1
Sequence Similarities
-
GO - Molecular Function
-
GO - Biological Process
-
UniProtKB
Homo sapiens
GenebankID or UniProtKB
Presumptive Null
No
Molecular Type
Aberration Type
Molecular Details of the Mutation
CNV with 7 copies of the outer 77-kb segment and 14 copies of the inner 25-kb segment in the genomes of female (ZStW) Almond pigeons
Experimental Evidence
Authors
Bruders R; Van Hollebeke H; Osborne EJ; Kronenberg Z; Maclary E; Yandell M; Shapiro MD
Abstract
Rock pigeons (Columba livia) display an extraordinary array of pigment pattern variation. One such pattern, Almond, is characterized by a variegated patchwork of plumage colors that are distributed in an apparently random manner. Almond is a sex-linked, semi-dominant trait controlled by the classical Stipper (St) locus. Heterozygous males (ZStZ+ sex chromosomes) and hemizygous Almond females (ZStW) are favored by breeders for their attractive plumage. In contrast, homozygous Almond males (ZStZSt) develop severe eye defects and often lack plumage pigmentation, suggesting that higher dosage of the mutant allele is deleterious. To determine the molecular basis of Almond, we compared the genomes of Almond pigeons to non-Almond pigeons and identified a candidate St locus on the Z chromosome. We found a copy number variant (CNV) within the differentiated region that captures complete or partial coding sequences of four genes, including the melanosome maturation gene Mlana. We did not find fixed coding changes in genes within the CNV, but all genes are misexpressed in regenerating feather bud collar cells of Almond birds. Notably, six other alleles at the St locus are associated with depigmentation phenotypes, and all exhibit expansion of the same CNV. Structural variation at St is linked to diversity in plumage pigmentation and gene expression, and thus provides a potential mode of rapid phenotypic evolution in pigeons.
Additional References
RELATED GEPHE
EXTERNAL LINKS
COMMENTS
@AllelicSeries @CNV @HeterozygoteAdvantage ; homozygous males show severe eye defects
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