GEPHE SUMMARY
Gephebase Gene
Entry Status
Published
GepheID
GP00001067
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Columba livia - blue/black
Trait State in Taxon B
Columba livia - recessive red e1 allele
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
Sox10
Synonyms
gt; Dom; Sox21; Sox-10
Sequence Similarities
-
GO - Biological Process
GO:0007417 : central nervous system development ... show more
UniProtKB
Mus musculus
GenebankID or UniProtKB
Presumptive Null
No
Molecular Type
Aberration Type
Deletion Size
1-10 kb
Molecular Details of the Mutation
melanocyte conserved enhancer deletion
Experimental Evidence
Authors
Domyan ET; Guernsey MW; Kronenberg Z; Krishnan S; Boissy RE; Vickrey AI; Rodgers C; Cassidy P; et al. ... show more
Abstract
Understanding the molecular basis of phenotypic diversity is a critical challenge in biology, yet we know little about the mechanistic effects of different mutations and epistatic relationships among loci that contribute to complex traits. Pigmentation genetics offers a powerful model for identifying mutations underlying diversity and for determining how additional complexity emerges from interactions among loci. Centuries of artificial selection in domestic rock pigeons (Columba livia) have cultivated tremendous variation in plumage pigmentation through the combined effects of dozens of loci. The dominance and epistatic hierarchies of key loci governing this diversity are known through classical genetic studies, but their molecular identities and the mechanisms of their genetic interactions remain unknown. Here we identify protein-coding and cis-regulatory mutations in Tyrp1, Sox10, and Slc45a2 that underlie classical color phenotypes of pigeons and present a mechanistic explanation of their dominance and epistatic relationships. We also find unanticipated allelic heterogeneity at Tyrp1 and Sox10, indicating that color variants evolved repeatedly though mutations in the same genes. These results demonstrate how a spectrum of coding and regulatory mutations in a small number of genes can interact to generate substantial phenotypic diversity in a classic Darwinian model of evolution.

Copyright © 2014 Elsevier Ltd. All rights reserved.
Additional References
RELATED GEPHE
COMMENTS
@Epistasis - Enhancer deletion - Two alleles
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