OMIA 001199-9925 : Coat colour, extension in Capra hircus
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|
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.
|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||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||rs669694251||2009||19706191|
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.|
- Created by Frank Nicholas on 18 Jul 2010
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