OMIA 001199-42413 : Coat colour, extension in Peromyscus polionotus
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 , 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 , lorises , antarctic fur seal
Category: Pigmentation phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2006
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||Peromyscus polionotus||-||no genomic information (-..-)||Mc1r||Ensembl|
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.
|2009||Steiner, CC., Rompler, H., Boettger, LM., Schoneberg, T., Hoekstra, HE. :|
|The genetic basis of phenotypic convergence in beach mice: similar pigment patterns but different genes. Mol Biol Evol 26:35-45, 2009. Pubmed reference: 18832078. DOI: 10.1093/molbev/msn218.|
|2006||Hoekstra, HE., Hirschmann, RJ., Bundey, RA., Insel, PA., Crossland, JP. :|
|A single amino acid mutation contributes to adaptive beach mouse color pattern. Science 313:101-4, 2006. Pubmed reference: 16825572. DOI: 10.1126/science.1126121.|
- Created by Frank Nicholas on 18 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