GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00002299
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
WT
Trait State in Taxon B
dominant black
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Common Name
-
Synonyms
-
Rank
subspecies
Lineage
Show more ... auropsida; Sauria; Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda; Coelurosauria; Aves; Neognathae; Galloanserae; Galliformes; Phasianidae; Meleagridinae; Meleagris; Meleagris gallopavo
NCBI Taxonomy ID
is Taxon A an Infraspecies?
Yes
Taxon A Description
Domestic turkey
Taxon B
Common Name
-
Synonyms
-
Rank
subspecies
Lineage
Show more ... auropsida; Sauria; Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda; Coelurosauria; Aves; Neognathae; Galloanserae; Galliformes; Phasianidae; Meleagridinae; Meleagris; Meleagris gallopavo
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
Domestic turkey
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
c.364A>T p.I122F
Experimental Evidence
Taxon A Taxon B Position
Codon - - -
Amino-acid Ile Phe 122
Authors
Vidal O; Viñas J; Pla C
Abstract
By sequencing the full coding region of the turkey melanocortin 1 receptor (MC1R) gene, we have found 4 mutations (c.96G > A, c.364A > T, c.450C > T, and c.887C > T) that are organized in 5 different haplotypes (MC1R*1 to MC1R*5). These haplotypes correlate perfectly with the 3 alleles of the bronze locus (i.e., B, b(+), and b(1)). We suggest that the dominant black phenotype, associated with the B allele, results from the constitutive activation of the receptor, an effect that might be mediated by the missense mutation c.364A > T (p.Ile122Phe). Moreover, we propose that the recessive black-winged bronze phenotype (linked to b(1)) might be produced by 2 deleterious mutations of MC1R (c.96G > A and c.887C > T). This is an unexpected finding because in mammals, MC1R deleterious polymorphisms are usually related with either red or lighter fur colors.
Additional References
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
1
EXTERNAL LINKS
COMMENTS
https://omia.org/OMIA001494/9103/ @Parallelism @Dominance Unusual MC1R phenotype due to possible constitutive activation / gain-of-function
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