OMIA 001199-494514 : Coat colour, extension in Vulpes lagopus

In other species: cattle , dog , horse , red fox , pig , sheep , jaguar , jaguarundi , American black bear , woolly mammoth , domestic cat , rabbit , domestic guinea pig , goat , 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

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

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2005

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.

Inheritance: As summarised by Yan et al. (2013), "According to their coat colour phenotype in winter, arctic fox (Alopex lagopus) are divided naturally into two colour morphs: the white and blue, named polar fox and blue fox respectively . . . . The two coat colours are determined by different alleles at the E locus, where the ‘blue’ allele Ed is dominant over the ‘white’ one E (Adalsteinsson et al. 1987)."

Molecular basis: Two missense blue alleles: p.Gly5Cys and p.Phe280Cys (Våge et al., 2005)

Associated gene:

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

Variants

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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.F280C 2005 15982782
Coat colour, extension MC1R missense p.G5C 2005 15982782

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.
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.
Yan, S.Q., Hou, J.N., Bai, C.Y., Jiang, Y., Zhang, X.J., Ren, H.L., Sun, B.X., Zhao, Z.H., Sun, J.H. :
A base substitution in the donor site of intron 12 of KIT gene is responsible for the dominant white coat colour of blue fox (Alopex lagopus). Anim Genet :, 2013. Pubmed reference: 24308634. DOI: 10.1111/age.12105.
2005 Vage, DI., Fuglei, E., Snipstad, K., Beheim, J., Landsem, VM., Klungland, H. :
Two cysteine substitutions in the MC1R generate the blue variant of the Arctic fox (Alopex lagopus) and prevent expression of the white winter coat. Peptides 26:1814-7, 2005. Pubmed reference: 15982782. DOI: 10.1016/j.peptides.2004.11.040.
1987 Adalsteinsson, S., Hersteinsson, P., Gunnarsson, E. :
Fox colors in relation to colors in mice and sheep Journal of Heredity 78:235-237, 1987. Pubmed reference: 3624844.

Edit History


  • Created by Frank Nicholas on 18 Jul 2010
  • Changed by Frank Nicholas on 10 Aug 2011
  • 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 08 Dec 2013
  • Changed by Frank Nicholas on 30 Apr 2015