OMIA 001199-9915 : Coat colour, extension in Bos indicus

In other species: , coyote , dog , red fox , American black bear , domestic cat , jaguar , ass , horse , pig , Arabian camel , reindeer , cattle , goat , sheep , rabbit , Mongolian gerbil , domestic guinea pig , domestic yak , fallow deer , alpaca , gray squirrel , raccoon dog , woolly mammoth , rock pocket mouse , oldfield mouse , lesser earless lizard , Geoffroy's cat , jaguarundi , Colocolo , little striped whiptail , water buffalo , Arctic fox

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 266300 (trait) , 155555 (gene) , 203200 (trait)

Mendelian trait/disorder: unknown

Considered a defect: 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.

Species-specific description: Goud et al. (2021) analysed the Sahiwal MC1R gene and proposed that a missense SNP (c.844C>A; p.281 T>N) might be the possible reason for the red coat colour in Sahiwal cattle when compared to black and white-coloured Karan Fries (Bos taurus x Bos indicus) cattle. The authors acknowledged that further molecular studies need to be conducted to validate an association of the variant with red coat colour.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MC1R Bos indicus - no genomic information (-..-) MC1R Ensembl

References


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.
2021 Goud, T.S., Upadhyay, R.C., Pichili, V.B.R., Onteru, S.K., Chadipiralla, K. :
Molecular characterization of coat color gene in Sahiwal versus Karan Fries bovine. J Genet Eng Biotechnol 19:22, 2021. Pubmed reference: 33512595. DOI: 10.1186/s43141-021-00117-2.
2020 Goud, T.S., Upadhyay, R.C., Onteru, S.K., Pichili, V.B.R., Chadipiralla, K. :
Identification and sequence characterization of melanocortin 1 receptor gene (<i>MC1R</i>) in <i>Bos indicus</i> versus (<i>Bos taurus X Bos indicus</i>). Anim Biotechnol 31:283-294, 2020. Pubmed reference: 30890019. DOI: 10.1080/10495398.2019.1585866.
2014 Hanna, L.L., Sanders, J.O., Riley, D.G., Abbey, C.A., Gill, C.A. :
Identification of a major locus interacting with MC1R and modifying black coat color in an F₂ Nellore-Angus population. Genet Sel Evol 46:4, 2014. Pubmed reference: 24460986. DOI: 10.1186/1297-9686-46-4.
Zhang, Y., Li, Q., Ye, S., Faruque, M.O., Yu, Y., Sun, D., Zhang, S., Wang, Y. :
New variants in the melanocortin 1 receptor gene (MC1R) in Asian cattle. Anim Genet 45:609-10, 2014. Pubmed reference: 24702190. DOI: 10.1111/age.12160.

Edit History


  • Created by Imke Tammen2 on 11 Feb 2021
  • Changed by Imke Tammen2 on 11 Feb 2021