GEPHE SUMMARY
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Gephebase Gene
Entry Status
Published
GepheID
GP00001352
Main curator
Prigent
PHENOTYPIC CHANGE
Trait Category
Trait
Trait State in Taxon A
Domestic duck ; Wild type non-extended black-(Jingjiang and Shanna and Shaoxing and Youxian and Jinyun and Mallard)
Trait State in Taxon B
Domestic duck-extended black-(Black Putian and Black Jingwu)
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
mallard
Synonyms
Anas boschas; Anas domesticus; Anas platyrhynchos f. domestica; mallard; duck; mallard duck; mallard ducks; Anas platyrhynchos Linnaeus 1758; Anas platyrhynchus
Rank
species
Lineage
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podomorpha; Tetrapoda; Amniota; Sauropsida; Sauria; Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda; Coelurosauria; Aves; Neognathae; Galloanserae; Anseriformes; Anatidae; Anatinae; Anas
Parent
NCBI Taxonomy ID
is Taxon A an Infraspecies?
Yes
Taxon A Description
Domestic duck ; Wild type non-extended black-(Jingjiang and Shanna and Shaoxing and Youxian and Jinyun and Mallard)
Taxon B
Latin Name
Common Name
mallard
Synonyms
Anas boschas; Anas domesticus; Anas platyrhynchos f. domestica; mallard; duck; mallard duck; mallard ducks; Anas platyrhynchos Linnaeus 1758; Anas platyrhynchus
Rank
species
Lineage
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podomorpha; Tetrapoda; Amniota; Sauropsida; Sauria; Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda; Coelurosauria; Aves; Neognathae; Galloanserae; Anseriformes; Anatidae; Anatinae; Anas
Parent
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
Domestic duck-extended black-(Black Putian and Black Jingwu)
GENOTYPIC CHANGE
Generic Gene Name
Mc1r
Synonyms
e; Tob; Mcr1; Mshra; Msh-r
String
Sequence Similarities
Belongs to the G-protein coupled receptor 1 family.
GO - Molecular Function
GO:0004977 : melanocortin receptor activity
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GO - Biological Process
GO - Cellular Component
GO:0016021 : integral component of membrane
... show more
UniProtKB
Mus musculus
Mus musculus
Presumptive Null
Molecular Type
Aberration Type
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
c.52G>A p.Glu18Lys
Experimental Evidence
| Taxon A | Taxon B | Position | |
|---|---|---|---|
| Codon | - | - | - |
| Amino-acid | - | - | - |
Main Reference
Authors
Yu W; Wang C; Xin Q; Li S; Feng Y; Peng X; Gong Y
Abstract
In this study, we performed a sequence characterization of the duck melanocortin 1 receptor (alpha-melanocyte stimulating hormone receptor) (MC1R) gene to analyze the relationship between MC1R polymorphism and the extended black variant in domestic ducks based on the extended black (E) and non-extended black (e(+) ) allele hypothesis of the duck MC1R gene. Both c.52G>A and c.376G>A substitutions are highly associated with the duck extended black variant (P < 0.01), but the novel c.52G>A substitution is more of a fit for the allele hypothesis of the duck MC1R gene.
© 2012 The Authors, Animal Genetics © 2012 Stichting International Foundation for Animal Genetics.
© 2012 The Authors, Animal Genetics © 2012 Stichting International Foundation for Animal Genetics.
Additional References
RELATED GEPHE
Related Haplotypes
No matches found.
EXTERNAL LINKS
COMMENTS
the p.Glu18Lys is assumed to have created a hyperactive MC1R protein - it is also mostly associated to c.376G>A
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