OMIA 001199-9913 : Coat colour, extension in Bos taurus |
Joerg et al. (1996) extended these results by showing that red coat colour in Friesians is due to the same deletion (c.772delG; p.Tyr155X) in the MSHR gene, which is now known as MC1R.
Matsumoto et al. (2020) reported a third (missense) variant (c.871G>A; p.(A291T)) that may account for the red coat colour of the Kumamoto sub‐breed of Japanese Brown cattle. More investigation is required before this variant can be added to the OMIA list.
Prevalence: In a project involving the whole-genome sequencing (WGS) of 43 Fleckvieh cattle with average coverage 7.46X (range 4.17X to 24.98X), Jansen et al. (2013) showed that all but one of the animals was homozygous for the recessive red (deletion; c.772delG; p.Tyr155X) allele, consistent with the typical red and white colour of this breed. The other animal was heterozygous for the recessive red allele and the wild-type allele, but was also red and white. Associated gene:Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
MC1R | melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) | Bos taurus | 18 | NC_037345.1 (14705093..14706843) | 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.
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
185 | Angus Holstein-Friesian Icelandic | Dominant black | MC1R | E^D | missense | Naturally occurring variant | ARS-UCD1.2 | 18 | g.14705671T>C | c.296T>C | p.(L99P) | rs109688013 | rs109688013 | 1995 | 8535072 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | |
485 | Angus Fleckvieh Red Friesian | Recessive red | MC1R | e | deletion, small (<=20) | Naturally occurring variant | ARS-UCD1.2 | 18 | g.14705685del | c.310del | p.(G104Vfs*53) | rs110710422 | rs110710422 | 1995 | 8535072 | Variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170) |
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.
2022 | Bertolini, F., Moscatelli, G., Schiavo, G., Bovo, S., Ribani, A., Ballan, M., Bonacini, M., Prandi, M., Dall'Olio, S., Fontanesi, L. : | |
Signatures of selection are present in the genome of two close autochthonous cattle breeds raised in the North of Italy and mainly distinguished for their coat colours. J Anim Breed Genet 139:307-319, 2022. Pubmed reference: 34841617. DOI: 10.1111/jbg.12659. | ||
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. | ||
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. | ||
Kasprzak-Filipek, K., Sawicka-Zugaj, W., Litwińczuk, Z., Chabuz, W., Šveistienė, R., Bulla, J. : | ||
Polymorphism of the Melanocortin 1 Receptor (<i>MC1R</i>) Gene and its Role in Determining the Coat Colour of Central European Cattle Breeds. Animals (Basel) 10:, 2020. Pubmed reference: 33066670. DOI: 10.3390/ani10101878. | ||
Matsumoto, H., Kojya, M., Takamuku, H., Kimura, S., Kashimura, A., Imai, S., Yamauchi, K., Ito, S. : | ||
MC1R c.310G>- and c.871G > A determine the coat color of Kumamoto sub-breed of Japanese Brown cattle. Anim Sci J 91:e13367, 2020. Pubmed reference: 32285552. DOI: 10.1111/asj.13367. | ||
2016 | Niemi, M., Sajantila, A., Vilkki, J. : | |
Temporal variation in coat colour (genotypes) supports major changes in the Nordic cattle population after Iron Age. Anim Genet 47:495-8, 2016. Pubmed reference: 27297978. DOI: 10.1111/age.12445. | ||
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. | ||
Lawlor, T.J., VanRaden, P.M., Null, D., Levisee, J., Dorhorst, B. : | ||
Using haplotypes to unravel the inheritance of Holstein coat color. Proceedings, 10th World Congress of Genetics Applied to Livestock Production, Vancouver :Comm. 289, 2014. | ||
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. | ||
2013 | Druet, T., Pérez-Pardal, L., Charlier, C., Gautier, M. : | |
Identification of large selective sweeps associated with major genes in cattle. Anim Genet 44:758-62, 2013. Pubmed reference: 23859468. DOI: 10.1111/age.12073. | ||
Jansen, S., Aigner, B., Pausch, H., Wysocki, M., Eck, S., Benet-Pagès, A., Graf, E., Wieland, T., Strom, T.M., Meitinger, T., Fries, R. : | ||
Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverage. BMC Genomics 14:446, 2013. Pubmed reference: 23826801. DOI: 10.1186/1471-2164-14-446. | ||
Schmutz, S.M., Dreger, D.L. : | ||
Interaction of MC1R and PMEL alleles on solid coat colors in Highland cattle. Anim Genet 44:9-13, 2013. Pubmed reference: 22524257. DOI: 10.1111/j.1365-2052.2012.02361.x. | ||
Switonski, M., Mankowska, M., Salamon, S. : | ||
Family of melanocortin receptor (MCR) genes in mammals-mutations, polymorphisms and phenotypic effects. J Appl Genet 54:461-72, 2013. Pubmed reference: 23996627. DOI: 10.1007/s13353-013-0163-z. | ||
2008 | Mohanty, T.R., Seo, K.S., Park, K.M., Choi, T.J., Choe, H.S., Baik, D.H., Hwang, I.H. : | |
Molecular variation in pigmentation genes contributing to coat colour in native Korean Hanwoo cattle. Anim Genet 39:550-3, 2008. Pubmed reference: 18557975. DOI: 10.1111/j.1365-2052.2008.01746.x. | ||
2007 | Gan, H.Y., Li, J.B., Wang, H.M., Gao, Y.D., Liu, W.H., Li, J.P., Zhong, J.F. : | |
[Relationship between the melanocortin receptor 1 (MC1R) gene and the coat color phenotype in cattle]. Yi Chuan 29:195-200, 2007. Pubmed reference: 17369176. DOI: 10.1360/yc-007-0195. | ||
2003 | Klungland, H., Vage, D.I. : | |
Pigmentary switches in domestic animal species Annals of the New York Academy of Sciences 994:331-8, 2003. Pubmed reference: 12851333. | ||
2002 | Graphodatskaya, D., Joerg, H., Stranzinger, G. : | |
Molecular and pharmacological characterisation of the MSH-R alleles in Swiss cattle breeds Journal of Receptor & Signal Transduction Research 22:421-430, 2002. | ||
Maudet, C., Taberlet, P. : | ||
Holstein's milk detection in cheeses inferred from melanocortin receptor 1 (MC1R) gene polymorphism Journal of Dairy Science 85:707-715, 2002. Pubmed reference: 12018414. DOI: 10.3168/jds.S0022-0302(02)74127-1. | ||
2001 | Kriegesmann, B., Dierkes, B., Leeb, T., Jansen, S., Brenig, B. : | |
Two breed-specific bovine MC1-R alleles in Brown Swiss and Saler breeds Journal of Dairy Science 84:1768-1771, 2001. Pubmed reference: 11467827. DOI: 10.3168/jds.S0022-0302(01)74612-7. | ||
2000 | Graphodatskaya, D., Joerg, H., Stranzinger, G. : | |
Polymorphism in the MSHR gene of different cattle breeds Veterinarni Medicina 45:290-295, 2000. | ||
Kantanen, J., Olsaker, I., Brusgaard, K., Eythorsdottir, E., Holm, LE., Lien, S., Danell, B., Adalsteinsson, S. : | ||
Frequencies of genes for coat colour and horns in Nordic cattle breeds. Genet Sel Evol 32:561-76, 2000. Pubmed reference: 14736370. DOI: 10.1051/gse:2000137. | ||
Rouzaud, F., Martin, J., Gallet, P.F., Delourme, D., Goulemot-Leger, V., Amigues, Y., Menissier, F., Leveziel, H., Julien, R., Oulmouden, A. : | ||
A first genotyping assay of French cattle breeds based on a new allele of the extension gene encoding the melanocortin-1 receptor (Mc1r) Genetics Selection Evolution 32:511-520, 2000. | ||
1999 | Klungland, H., Vage, D.I. : | |
Presence of the dominant extension allele E-D in red and mosaic cattle Pigment Cell Research 12:391-393, 1999. Pubmed reference: 10614579. | ||
Klungland, H., Roed, K.H., Nesbo, C.L., Jakobsen, K.S., Vage, D.I. : | ||
The melanocyte-stimulating hormone receptor (MC1-R) gene as a tool in evolutionary studies of Artiodactyles Hereditas 131:39-46, 1999. Pubmed reference: 10628296. | ||
1996 | Joerg, H., Fries, H.R., Meijerink, E., Stranzinger, G.F. : | |
Red coat color in Holstein cattle is associated with a deletion in the MSHR gene Mammalian Genome 7:317-318, 1996. Pubmed reference: 8661706. | ||
Werth, L.A., Hawkins, G.A., Eggen, A., Petit, E., Elduque, C., Kreigesmann, B., Bishop, M.D. : | ||
Rapid communication - melanocyte stimulating hormone receptor (MC1R) maps to bovine chromosome 18 Journal of Animal Science 74:262, 1996. Pubmed reference: 8778108. | ||
1995 | Adalsteinsson, S., Bjarnadottir, S., Vage, D.I., Jonmundsson, J.V. : | |
Brown coat color in icelandic cattle produced by the loci extension and agouti Journal of Heredity 86:395-398, 1995. Pubmed reference: 7560875. | ||
Klungland, H., Vage, D.I., Gomezraya, L., Adalsteinsson, S., Lien, S. : | ||
The role of melanocyte-stimulating hormone (msh) receptor in bovine coat color determination Mammalian Genome 6:636-639, 1995. Pubmed reference: 8535072. | ||
1921 | Watson, J.A.S. : | |
A Mendelian experiment with Aberdeen-Angus and West Highland cattle Journal of Genetics 11:59-67, 1921. | ||
1916 | Lloyd-Jones, O., Evvard, J. : | |
Inheritance of color and horns in blue gray cattle. Iowa State College Research Bulletin No. 30 :, 1916. | ||
1906 | Barrington, A., Pearson, K. : | |
On the inheritance of coat color in cattle. Biometrika 4:427-464, 1906. |
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