OMIA:001199-89462 : Coat colour, extension in Bubalus bubalis

In other species: cattle , dog , horse , red fox , 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 , domestic yak , alpaca , , coyote , reindeer , Geoffroy's cat , Colocolo , ass , Arabian camel , Mongolian gerbil , raccoon dog , fallow deer , zebu , lorises , antarctic fur seal

Categories: Pigmentation phene

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

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

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: By closely examining the association between MC1R variants and coat colour, da Cruz et al. (2020) concluded "that [known] polymorphisms in the MC1R gene did not influence coat color in buffaloes".


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.

2020 da Cruz, V.A.R., Alves, J.S., Bastos, M.S., Oliveira, L.S.M., Diaz, I.D.P.S., Pinto, L.F.B., Costa, R.B., de Camargo, G.M.F. :
MC1R gene and coat color in buffaloes. Anim Genet 51:345-6, 2020. Pubmed reference: 31975429 . DOI: 10.1111/age.12910.
2010 Miao, Y., Wu, G., Wang, L., Li, D., Tang, S., Liang, J., Mao, H., Luo, H., Zhang, Y. :
The role of MC1R gene in buffalo coat color. Sci China Life Sci 53:267-72, 2010. Pubmed reference: 20596837 . DOI: 10.1007/s11427-010-0026-3.

Edit History

  • Created by Frank Nicholas on 20 Jul 2010
  • 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 26 Jan 2020