OMIA:001199-9925 : Coat colour, extension in Capra hircus (goat)
In other species: lorises , coyote , dog , red fox , American black bear , domestic cat , jaguar , ass (donkey) , horse , Przewalski's horse , pig , Arabian camel , reindeer , taurine cattle , indicine cattle (zebu) , 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
Mode of inheritance: Autosomal dominant
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2009
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.
Markers: Ganbold et al. 2019: "A 938 base pair (bp) long coding region of the MC1R gene was sequenced for three different breeds with different coat colors (Gobi Gurwan Saikhan: complete black, Zalaa Jinstiin Tsagaan: complete white, Mongolian native goat: admixture of different of coat colors). ... Comparison of genotypes frequencies of two common missense mutions using chi-sqaure (x2) test revealed significant differences between coat color groups (p<0.001)."
Molecular basis: Fontanesi et al. (2009) reported five SNPs in the goat MC1R gene: "one nonsense mutation (p.Q225X), three missense mutations (p.A81V, p.F250V, and p.C267W), and one silent mutation. The stop codon at position 225 should cause the production of a shorter MC1R protein whose functionality may be altered." The authors noted "incomplete association of the nonsense mutation (c.673C>T; p.Q225X) with red coat colour phenotype ... . The p.267W allele was present in all Murciano-Granadina black goats, whereas it was never identified in the brown ones. Moreover, the same substitution was present in almost all Maltese goats providing evidence of association between this mutation and black coat colour."
Gua et al. (2021): "Performance of a genome-wide association study and Sanger sequencing and TaqMan genotyping experiments [in 49 black and 41 brown individuals] revealed that the c.801C>G (p.Cys267Trp) [rs669694251] polymorphism in the melanocortin 1 receptor (MC1R) gene is the main determinant of the black (GG or GC genotypes) and brown (CC genotypes) colorations of Murciano-Granadina goats."
Have human generated variants been created, e.g. through genetic engineering and gene editing
Maltese (Dog) (VBO_0200856),
Murcia-Granada (Goat) (VBO_0000807).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MC1R||melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)||Capra hircus||-||no genomic information (-..-)||MC1R||Homologene, Ensembl , NCBI gene|
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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|
|1332||Murcia-Granada (Goat)||Black coat colour||MC1R||missense||Naturally occurring variant||ARS1||18||g.16105786C>G||c.801C>G||p.(C267W)||cDNA position based on transcript ENSCHIT00000014455.1||rs669694251||2009||19706191|
Cite this entry
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.
|2023||Venkatesh, K.M., Mishra, C., Pradhan, S.K., Behera, K., Mishra, S.R., Nayak, G. :|
|A novel heterozygote allele in caprine melanocortin 1 receptor (MC1R) gene: an association with heat stress traits. Trop Anim Health Prod 55:68, 2023. Pubmed reference: 36749525. DOI: 10.1007/s11250-023-03497-4.|
|2021||Guan, D., Martínez, A., Luigi-Sierra, M.G., Delgado, J.V., Landi, V., Castelló, A., Fernández Álvarez, J., Such, X., Jordana, J., Amills, M. :|
|Detecting the footprint of selection on the genomes of Murciano-Granadina goats. Anim Genet 52:683-693, 2021. Pubmed reference: 34196982. DOI: 10.1111/age.13113.|
|2019||Ganbold, O., Manjula, P., Lee, S.H., Paek, W.K., Seo, D., Munkhbayar, M., Lee, J.H. :|
|Sequence characterization and polymorphism of Melanocortin 1 receptor gene in some goat breeds with different coat color of Mongolia. Asian-Australas J Anim Sci 32:939-948, 2019. Pubmed reference: 30744336. DOI: 10.5713/ajas.18.0819.|
|Li, J., Chen, W., Wu, S., Ma, T., Jiang, H., Zhang, Q. :|
|Differential expression of MC1R gene in Liaoning Cashmere goats with different coat colors. Anim Biotechnol 30:273-278, 2019. Pubmed reference: 30638122. DOI: 10.1080/10495398.2018.1485681.|
|2009||Fontanesi, L., Beretti, F., Riggio, V., Dall'Olio, S., González, E.G., Finocchiaro, R., Davoli, R., Russo, V., Portolano, B. :|
|Missense and nonsense mutations in melanocortin 1 receptor (MC1R) gene of different goat breeds: association with red and black coat colour phenotypes but with unexpected evidences. BMC Genet 10:47, 2009. Pubmed reference: 19706191. DOI: 10.1186/1471-2156-10-47.|
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