GEPHE SUMMARY
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Gephebase Gene
Entry Status
Published
GepheID
GP00000574
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait
Trait State in Taxon A
Canis familiaris
Trait State in Taxon B
Black melanistic mask in Leonberger and Malinois
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
gray wolf
Synonyms
gray wolf; grey wolf; Canis lupus Linnaeus, 1758
Rank
species
Lineage
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rata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis
Parent
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
dog
Synonyms
Canis canis; Canis domesticus; Canis familiaris; dog; dogs; Canis familiaris Linnaeus, 1758; Canis lupus familiaris Linnaeus, 1758
Rank
subspecies
Lineage
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tomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis; Canis lupus
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
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
Presumptive Null
Molecular Type
Aberration Type
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
M264V
Experimental Evidence
Taxon A | Taxon B | Position | |
---|---|---|---|
Codon | - | - | - |
Amino-acid | Met | Val | 264 |
Authors
Schmutz SM; Berryere TG; Ellinwood NM; Kerns JA; Barsh GS
Abstract
Black mask is a characteristic pattern in which red, yellow, tan, fawn, or brindle dogs exhibit a melanistic muzzle which may extend up onto the ears. Melanistic mask is inherited in several breeds as an autosomal dominant trait, and appears to be a fixed trait in a few breeds of dogs. A MC1R nonsense mutation, R306ter, has been shown to cause a completely red or yellow coat color in certain breeds such as Irish setters, yellow Labrador retrievers, and golden retrievers. The amino acid sequence for the melanocortin receptor 1 gene (MC1R) was examined in 17 dogs with melanistic masks from seven breeds, 19 dogs without melanistic masks, and 7 dogs in which their coat color made the mask difficult to distinguish. We also examined nine brindle dogs of four breeds, including three dogs who also had a black mask. No consistent amino acid change was observed in the brindle dogs. All dogs with a melanistic mask had at least one copy of a valine substitution for methionine at amino acid 264 (M264V) and none were homozygous for the premature stop codon (R306ter). These results suggest that black mask, but not brindle, is caused by a specific MC1R allele.
Additional References
RELATED GEPHE
Related Haplotypes
EXTERNAL LINKS
COMMENTS
https://omia.org/OMIA001590/9615/ @Parallelism
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