OMIA 001199-9925 : Coat colour, extension in Capra hircus

In other species: cattle , dog , horse , red fox , pig , sheep , jaguar , jaguarundi , American black bear , woolly mammoth , domestic cat , rabbit , domestic guinea pig , 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 , Colocolo , ass , Arabian camel , Mongolian gerbil , raccoon dog , fallow deer , zebu

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 266300 (trait) , 155555 (gene) , 203200 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: no

Key variant known: no

Cross-species summary: The extension locus encodes the melanocyte-stimulating hormone receptor (MSHR; now 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. As explained by Schneider et al. (PLoS Genet 10(2): e1004892; 2015), "The most common causes of melanism (black coat) mutations are gain-of-function alterations in MC1R, or loss-of function alterations in ASIP, which encodes Agouti signaling protein, a paracrine signaling molecule that inhibits MC1R signaling". Mutations in MC1R have been associated with white colouring in several species.

Molecular basis: Fontanesi et al. (2009) reported five SNPs in the goat MC1R gene: "one nonsense mutation (p.Q225X), three missense mutations (p.A81V, p.F250V, and p.C267W), and one silent mutation. The stop codon at position 225 should cause the production of a shorter MC1R protein whose functionality may be altered." The nonsense allele is associated with red coat colour, but not completely.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) Capra hircus - no genomic information (-..-) MC1R Homologene, Ensembl, NCBI gene


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.
2019 Ganbold, O., Manjula, P., Lee, S.H., Paek, W.K., Seo, D., Munkhbayar, M., Lee, J.H. :
Sequence characterization and polymorphism of Melanocortin 1 receptor gene in some goat breeds with different coat color of Mongolia. Asian-Australas J Anim Sci :, 2019. Pubmed reference: 30744336. DOI: 10.5713/ajas.18.0819.
Li, J., Chen, W., Wu, S., Ma, T., Jiang, H., Zhang, Q. :
Differential expression of MC1R gene in Liaoning Cashmere goats with different coat colors. Anim Biotechnol :1-6, 2019. Pubmed reference: 30638122. DOI: 10.1080/10495398.2018.1485681.
2009 Fontanesi, L., Beretti, F., Riggio, V., Dall'Olio, S., González, E.G., Finocchiaro, R., Davoli, R., Russo, V., Portolano, B. :
Missense and nonsense mutations in melanocortin 1 receptor (MC1R) gene of different goat breeds: association with red and black coat colour phenotypes but with unexpected evidences. BMC Genet 10:47, 2009. Pubmed reference: 19706191. DOI: 10.1186/1471-2156-10-47.

Edit History

  • Created by Frank Nicholas on 18 Jul 2010
  • Changed by Frank Nicholas on 11 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 03 Feb 2012
  • Changed by Frank Nicholas on 17 Jun 2013
  • Changed by Frank Nicholas on 20 Aug 2020