OMIA 001199-9627 : Coat colour, extension in Vulpes vulpes

In other species: cattle , dog , horse , pig , sheep , jaguar , jaguarundi , American black bear , woolly mammoth , domestic cat , rabbit , domestic guinea pig , goat , Arctic fox , rock pocket mouse , oldfield mouse , gray squirrel , lesser earless lizard , little striped whiptail , water buffalo , domestic yak , alpaca , , coyote , reindeer , Geoffroy's cat , Kodkod , Colocolo , ass , Arabian camel , Mongolian gerbil

Possibly relevant human trait(s) and/or gene(s) (MIM number): 266300

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: no

Key variant known: yes

Year key variant first reported: 1997

Cross-species summary: The extension locus encodes the melanocyte-stimulating hormone receptor (MSHR; also known as MC1R). This receptor controls the level of tyrosinase within melanocytes. Tyrosinase is the limiting enzyme involved in synthesis of melanins: high levels of tyrosinase result in the production of eumelanin (dark colour, e.g. brown or black), while low levels result in the production of phaeomelanin (light colour, e.g. red or yellow). When melanocyte-stimulating hormone (MSH) binds to its receptor, the level of tyrosinase is increased, leading to production of eumelanin. The wild-type allele at the extension locus corresponds to a functional MSHR, and hence to dark pigmentation in the presence of MSH.

Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on extensive evidence in other mammal species that the Extension (E) locus corresponds to the MC1R gene), Vage et al. (1997) cloned and characterized the fox extension locus, providing strong evidence that the Alaska Silver allele, E(A), which confers dark pigmentation, is due to a C125R amino-acid substitution in the melanocyte-stimulating hormone receptor.

Liu et al. (2016) reported that "SNP c.373T>C in the coding region of the MC1R gene is probably associated with the brown phenotype of chocolate foxes".

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MC1R Vulpes vulpes - no genomic information (-..-) MC1R Ensembl

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Coat colour, extension MC1R missense p.C125R 1997 9054949
Coat colour, extension MC1R missense c.373C>T p.C125R 2016 27072328

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2016 Liu, Z., Gong, Y., Feng, M., Duan, L., Li, Y., Li, X. :
Genetic variations of the coding region of the melanocortin receptor 1 (MC1R) gene in the fox. Vet Dermatol 27:135-e36, 2016. Pubmed reference: 27072328. DOI: 10.1111/vde.12303.
2013 Switonski, M., Mankowska, M., Salamon, S. :
Family of melanocortin receptor (MCR) genes in mammals-mutations, polymorphisms and phenotypic effects. J Appl Genet 54:461-72, 2013. Pubmed reference: 23996627. DOI: 10.1007/s13353-013-0163-z.
1997 Vage, D.I., Lu, D.S., Klungland, H., Lien, S., Adalsteinsson, S., Cone, R.D. :
A non-epistatic interaction of agouti and extension in the fox, Vulpes vulpes Nature Genetics 15:311-315, 1997. Pubmed reference: 9054949. DOI: 10.1038/ng0397-311.

Edit History


  • Created by Frank Nicholas on 29 Nov 2005
  • Changed by Frank Nicholas on 12 Oct 2011
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Frank Nicholas on 21 Mar 2012
  • Changed by Frank Nicholas on 04 Sep 2012
  • Changed by Frank Nicholas on 02 Jun 2016