GEPHE SUMMARY
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Gephebase Gene
Entry Status
Published
GepheID
GP00000569
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait
Trait State in Taxon A
Vulpes lagopus ; red fox
Trait State in Taxon B
Vulpes lagopus ; silver coats in arctic fox including blue variant
Ancestral State
Unknown
Taxonomic Status
Taxon A
Latin Name
Common Name
red fox
Synonyms
Canis vulpes; red fox; silver fox
Rank
species
Lineage
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ata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Vulpes
Parent
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
Arctic fox
Synonyms
Alopex lagopus; Arctic fox
Rank
species
Lineage
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ata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Vulpes
Parent
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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Mutation #1
Presumptive Null
Molecular Type
Aberration Type
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
G5C
Experimental Evidence
| Taxon A | Taxon B | Position | |
|---|---|---|---|
| Codon | GGC | TGC | 13 |
| Amino-acid | Gly | Cys | 5 |
Authors
Våge DI; Fuglei E; Snipstad K; Beheim J; Landsem VM; Klungland H
Abstract
We have characterized two mutations in the MC1R gene of the blue variant of the arctic fox (Alopex lagopus) that both incorporate a novel cysteine residue into the receptor. A family study in farmed arctic foxes verified that the dominant expression of the blue color phenotype cosegregates completely with the allele harboring these two mutations. Additionally to the altered pigment synthesis, the blue fox allele suppresses the seasonal change in coat color found in the native arctic fox. Consequently, these findings suggest that the MC1R/agouti regulatory system is involved in the seasonal changes of coat color found in arctic fox.
Mutation #2
Presumptive Null
Molecular Type
Aberration Type
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
F280C
Experimental Evidence
| Taxon A | Taxon B | Position | |
|---|---|---|---|
| Codon | TTC | TGC | 839 |
| Amino-acid | Phe | Cys | 280 |
Authors
Våge DI; Fuglei E; Snipstad K; Beheim J; Landsem VM; Klungland H
Abstract
We have characterized two mutations in the MC1R gene of the blue variant of the arctic fox (Alopex lagopus) that both incorporate a novel cysteine residue into the receptor. A family study in farmed arctic foxes verified that the dominant expression of the blue color phenotype cosegregates completely with the allele harboring these two mutations. Additionally to the altered pigment synthesis, the blue fox allele suppresses the seasonal change in coat color found in the native arctic fox. Consequently, these findings suggest that the MC1R/agouti regulatory system is involved in the seasonal changes of coat color found in arctic fox.
RELATED GEPHE
Related Haplotypes
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