OMIA 001199-9925 : Coat colour, extension in Capra hircus

In other species: cattle , dog , horse , red fox , pig , sheep , jaguar , jaguarundi , American black bear , woolly mammoth , domestic cat , rabbit , domestic guinea pig , 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 , zebu , lorises , antarctic fur seal

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

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."

Breeds: Maltese, Murciana Granadina.

Associated gene:

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

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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.

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
Murciana Granadina 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 34196982 2009 19706191

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 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 :, 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.

Edit History


  • Created by Frank Nicholas on 18 Jul 2010
  • Changed by Frank Nicholas on 11 Oct 2011
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