OMIA 001199-30532 : Coat colour, extension in Dama dama
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 , zebu , lorises , antarctic fur seal
Category: Pigmentation phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2020
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 name: White fallow deer
Species-specific description: “The coat colour of fallow deer is highly variable and even white animals can regularly be observed in game farming and in the wild. Affected animals do not show complete albinism but rather some residual pigmentation resembling a very pale beige dilution of coat colour. The eyes and claws of the animals are pigmented” (Reiner et al., 2020). Reiner et al. (2020) conducted whole genome sequencing and identified a likely causative variant in the MC1R gene.
Molecular basis: Reiner et al. (2020) conducted whole genome sequencing of one white hind and her brown calf and identified “a variant in the MC1R gene (NM_174108.2:c.143T>C) resulting in an amino acid exchange from leucine to proline at position 48 of the MC1R receptor protein (NP_776533.1:p.L48P)” as a likely cause for the coat colour variation observed in white fallow deer.
Genetic testing: “102 samples from 22 white animals and from 80 animals with wildtype coat colour were genotyped” for the NM_174108.2:c.143T>C variant and the “gene test revealed that all animals of the white phenotype were of genotype CC whereas all pigmented animals were of genotype TT or TC. The study showed that 14% of the pigmented (brown or dark pigmented) animals carried the white allele.” (Reiner et al., 2020)
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MC1R||Dama dama||-||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|
|1271||White coat colour||MC1R||missense||Naturally occurring variant||c.143T>C||p.(L48P)||NM_174108.2:c.143T>C; NP_776533.1:p.(L48P)||2020||33213385|
|2020||Reiner, G., Weber, T., Nietfeld, F., Fischer, D., Wurmser, C., Fries, R., Willems, H. :|
|A genome-wide scan study identifies a single nucleotide substitution in MC1R gene associated with white coat colour in fallow deer (Dama dama). BMC Genet 21:126, 2020. Pubmed reference: 33213385. DOI: 10.1186/s12863-020-00950-3.|
- Created by Imke Tammen2 on 30 Nov 2020
- Changed by Imke Tammen2 on 30 Nov 2020