OMIA:001199-9798 : Coat colour, extension in Equus przewalskii (Przewalski's horse)
In other species: lorises , coyote , dog , red fox , American black bear , domestic cat , jaguar , ass (donkey) , 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 , water buffalo , 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: Musiał et al. (2023) investigated the presence of two equine TBX3 variants (see OMIA:001972-9796 : Coat colour, dun in Equus caballus) and a MC1R variant associated with 'fox' colour in 23 Przewalski horses: "The coat color genes analyses indicated only native, wild genotypes. ... The results assigned all horses to the [TBX3] genotype with G/G alleles in both SNP loci, and deletions were not observed. ... none of Przewalski horses presented C to T missense mutation associated with an unfavorable [MC1R] ‘fox’ color variant for this species."
Have human generated variants been created, e.g. through genetic engineering and gene editing
Cite this entry
|2023||Musiał, A.D., Ropka-Molik, K., Stefaniuk-Szmukier, M., Myćka, G., Bieniek, A., Yasynetska, N. :|
|Characteristic of Przewalski horses population from Askania-Nova reserve based on genetic markers. Mol Biol Rep , 2023. Pubmed reference: 37365410. DOI: 10.1007/s11033-023-08581-4.|
- Created by Imke Tammen2 on 28 Jun 2023
- Changed by Imke Tammen2 on 28 Jun 2023