OMIA:001199-30521 : Coat colour, extension in Bos grunniens
In other species: taurine 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 , water buffalo , alpaca , coyote , reindeer , Geoffroy's cat , Colocolo , ass (donkey) , Arabian camel , Mongolian gerbil , raccoon dog , fallow deer , indicine cattle (zebu) , lorises , antarctic fur seal , Przewalski's horse
Categories: Pigmentation phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2009
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.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MC1R||Bos grunniens||-||no genomic information (-..-)||MC1R||Ensembl|
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||Petersen, J.L., Kalbfleisch, T.S., Parris, M., Tietze, S.M., Cruickshank, J. :|
|MC1R and KIT haplotypes associate with pigmentation phenotypes of North American yak (Bos grunniens). J Hered 111:182-193, 2020. Pubmed reference: 31714577 . DOI: 10.1093/jhered/esz070.|
|2009||Chen, SY., Huang, Y., Zhu, Q., Fontanesi, L., Yao, YG., Liu, YP. :|
|Sequence characterization of the MC1R gene in yak (Poephagus grunniens) breeds with different coat colors. J Biomed Biotechnol 2009:861046, 2009. Pubmed reference: 19584942 . DOI: 10.1155/2009/861046.|
- Created by Frank Nicholas on 21 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