GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00000601
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Columba livia
Trait State in Taxon B
Columba livia - increased production of pheomelanin (red and yellow pigments)
Ancestral State
Data not curated
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
MC1R
Synonyms
CMM5; MSH-R; SHEP2; MSHR
Sequence Similarities
Belongs to the G-protein coupled receptor 1 family.
UniProtKB
Homo sapiens
GenebankID or UniProtKB
Presumptive Null
No
Molecular Type
Aberration Type
SNP
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
Val85Met (G253A)
Experimental Evidence
Taxon A Taxon B Position
Codon - - -
Amino-acid - - -
Authors
Guernsey MW; Ritscher L; Miller MA; Smith DA; Schöneberg T; Shapiro MD
Abstract
Variation in the melanocortin-1 receptor (Mc1r) is associated with pigmentation diversity in wild and domesticated populations of vertebrates, including several species of birds. Among domestic bird species, pigmentation variation in the rock pigeon (Columbalivia) is particularly diverse. To determine the potential contribution of Mc1r variants to pigment diversity in pigeons, we sequenced Mc1r in a wide range of pigeon breeds and identified several single nucleotide polymorphisms, including a variant that codes for an amino acid substitution (Val85Met). In contrast to the association between Val85Met and eumelanism in other avian species, this change was associated with pheomelanism in pigeons. In vitro cAMP accumulation and protein expression assays revealed that Val85Met leads to decreased receptor function and reduced cell surface expression of the mutant protein. The reduced in vitro function is consistent with the observed association with reduced eumelanic pigmentation. Comparative genetic and cellular studies provide important insights about the range of mechanisms underlying diversity among vertebrates, including different phenotypic associations with similar mutations in different species.
Additional References
RELATED GEPHE
Related Haplotypes
No matches found.
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