OMIA 001199-38666 : Coat colour, extension in Chaetodipus intermedius

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 , oldfield mouse , gray squirrel , lesser earless lizard , little striped whiptail , water buffalo , domestic yak , alpaca , , coyote , reindeer , Geoffroy's cat , Kodkod , Colocolo , ass , Arabian camel , Mongolian gerbil

Possibly relevant human trait(s) and/or gene(s) (MIM number): 266300

Mendelian trait/disorder: yes

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2003

Cross-species summary: The extension locus encodes the melanocyte-stimulating hormone receptor (MSHR; also 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.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
Mc1r Chaetodipus intermedius - no genomic information (-..-) Mc1r Ensembl

Reference


2003 Nachman, MW., Hoekstra, HE., D'Agostino, SL. :
The genetic basis of adaptive melanism in pocket mice. Proc Natl Acad Sci U S A 100:5268-73, 2003. Pubmed reference: 12704245. DOI: 10.1073/pnas.0431157100.

Edit History


  • 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