OMIA 001199-9915 : Coat colour, extension in Bos indicus
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 , raccoon dog , fallow deer , lorises , antarctic fur seal
Category: Pigmentation phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: unknown
Considered a defect: no
Year key variant first reported: 2021
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: Goud et al. (2021) analysed the Sahiwal MC1R gene and proposed that a missense SNP (c.844C>A; p.(T281N) 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.
Santana et al. (2021): Gray coat is one of the breed qualiﬁcations in Guzerat cattle. The authors report “the birth of a single red individual … as a result of the mating of two gray Guzerat animals. … The primer pair described by Goud et al. (2021) was used for PCR, which ampliﬁes the single exon of the MC1R gene. Sequence analysis permitted the detection of a deletion of one nucleotide whose nitrogenated base is a thymine, at position 311 of the MC1R gene. This deletion causes a change in the reading frame from this point onwards (amino acid 104) and creates a premature stop codon. The predicted protein is smaller, with 155 amino acids compared with the original protein …. "
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MC1R||Bos indicus||-||no genomic information (-..-)||MC1R||Ensembl|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1350||Guzerat (Cattle)||Red||MC1R||deletion, small (<=20)||Naturally occurring variant||c.311delT||p.(G104Vfs*)||2021||34555208|
|1351||Sahiwal (Cattle)||Red||MC1R||missense||Naturally occurring variant||c.844C>A||p.(T281 N)||2021||33512595|
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.|
|Jiang, L., Kon, T., Chen, C., Ichikawa, R., Zheng, Q., Pei, L., Takemura, I., Nsobi, L.H., Tabata, H., Pan, H., Omori, Y., Ogura, A. :|
|Whole-genome sequencing of endangered Zhoushan cattle suggests its origin and the association of MC1R with black coat colour. Sci Rep 11:17359, 2021. Pubmed reference: 34462508. DOI: 10.1038/s41598-021-96896-2.|
|Santana, C.J.S., Alves, J.S., Pinto, L.F.B., Costa, R.B., de Camargo, G.M.F. :|
|A deletion in the MC1R gene alters coat color in Guzerat cattle. Anim Genet 52:896-897, 2021. Pubmed reference: 34555208. DOI: 10.1111/age.13143.|
|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 (MC1R) in Bos indicus versus (Bos taurus X Bos indicus). 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.|
- Created by Imke Tammen2 on 11 Feb 2021
- Changed by Imke Tammen2 on 11 Feb 2021
- Changed by Imke Tammen2 on 26 Sep 2021