GEPHE SUMMARY
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Gephebase Gene
Entry Status
Published
GepheID
GP00002300
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait
Trait State in Taxon A
WT
Trait State in Taxon B
recessive bronze
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
-
Synonyms
-
Rank
subspecies
Lineage
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auropsida; Sauria; Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda; Coelurosauria; Aves; Neognathae; Galloanserae; Galliformes; Phasianidae; Meleagridinae; Meleagris; Meleagris gallopavo
Parent
NCBI Taxonomy ID
is Taxon A an Infraspecies?
Yes
Taxon A Description
Domestic turkey
Taxon B
Latin Name
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
Parent
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
String
Sequence Similarities
Belongs to the G-protein coupled receptor 1 family.
GO - Molecular Function
GO:0008528 : G protein-coupled peptide receptor activity
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GO - Biological Process
GO:0007275 : multicellular organism development
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GO - Cellular Component
GO:0005886 : plasma membrane
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UniProtKB
Homo sapiens
Homo sapiens
Mutation #1
Presumptive Null
Molecular Type
Aberration Type
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
c.887C>T p.A296V
Experimental Evidence
Taxon A | Taxon B | Position | |
---|---|---|---|
Codon | - | - | - |
Amino-acid | Ala | Val | 296 |
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
Mutation #2
Presumptive Null
Molecular Type
Aberration Type
SNP Coding Change
Nonsense
Molecular Details of the Mutation
c.96G>A p.Trp32* stop-gain
Experimental Evidence
Taxon A | Taxon B | Position | |
---|---|---|---|
Codon | - | - | - |
Amino-acid | Trp | STP | 32 |
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
EXTERNAL LINKS
COMMENTS
https://omia.org/OMIA001494/9103/ @Parallelism
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