OMIA 001199-34880 : Coat colour, extension in Nyctereutes procyonoides
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 , water buffalo , domestic yak , alpaca , , coyote , reindeer , Geoffroy's cat , Colocolo , ass , Arabian camel , Mongolian gerbil , 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: no
Key variant is published: 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: Han et al. (2012) reported "a 2 bp deletion was detected in the 5'-untranslated region [of MC1R], positioned 152 bp upstream of the start codon" that may be a likely causal variant for yellow coat colour.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MC1R||Nyctereutes procyonoides||-||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.
|2013||Nowacka-Woszuk, J., Salamon, S., Gorna, A., Switonski, M. :|
|Missense polymorphisms in the MC1R gene of the dog, red fox, arctic fox and Chinese raccoon dog. J Anim Breed Genet 130:136-41, 2013. Pubmed reference: 23496014. DOI: 10.1111/jbg.12005.|
|2012||Han, J.I., Yang, H., Jeung, E.B., Na, K.J. :|
|Altered expression of melanocortin-1 receptor (MC1R) in a yellow-coloured wild raccoon dog (Nyctereutes procyonoides). Vet Dermatol 23:187-e37, 2012. Pubmed reference: 22385104. DOI: 10.1111/j.1365-3164.2012.01036.x.|
- Created by Frank Nicholas on 30 Mar 2020