OMIA:001199-89462 : Coat colour, extension in Bubalus bubalis (water buffalo)
In other species: lorises , coyote , dog , red fox , American black bear , domestic cat , jaguar , ass (donkey) , horse , Przewalski's horse , pig , Arabian camel , reindeer , taurine cattle , indicine cattle (zebu) , goat , sheep , rabbit , Mongolian gerbil , domestic guinea pig , domestic yak , fallow deer , alpaca , gray squirrel , raccoon dog , antarctic fur seal , woolly mammoth , rock pocket mouse , oldfield mouse , lesser earless lizard , Geoffroy's cat , jaguarundi , Colocolo , little striped whiptail , Arctic fox
Categories: Pigmentation phene
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".
Have human generated variants been created, e.g. through genetic engineering and gene editing
Cite this entry
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.|
- 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