OMIA 001529-9913 : Coat colour, dominant red in Bos taurus
Dorshorst et al. (2015) propose "that the Dominant Red locus is designated DR with two alleles, the derivative allele DR^DR and the ancestral or wild-type allele DR^+".Mapping: Dreger and Schmutz (2010) excluded linkage of this trait with polymorphisms in some of the common coat-colour genes, namely melanocortin 1 receptor (MC1R), agouti signalling protein (ASIP), attractin (ATRN) and melatonin receptor 1A (MTNR1A). However, linkage with microsatellites near, and SNPs within the 5' UTR of, another comparative candidate coat-colour gene (beta-defensin 103; DEFB103), located on chromosome BTA27, was detected.
Using SNP-chip genotypes of Holsteins from the shared national resource maintained by the Council on Dairy Cattle Breeding (CDCB; Reynoldsburg, Ohio), Lawlor et al. (2013) identified a haplotype at 8-12 Mb on chromosome BTA3 that co-segregates with this trait. While this results appears to contradict the earlier linkage result, it is known that there are many defensin genes/pseudogenes scattered throughout the bovine genome, and it is possible that the earlier results actually involved a defensin-like sequence on BTA3.
Using "31 cases and 36 control relatives", each genotyped with the Illumina BovineSNP50 chip, Capitan et al. (2014)/Bourneuf et al. (2017) confirmed and detaileded the location of this trait to a 4.6Mb region on chromosome BTA3: 7,906,099-12,475,989.
Dorshorst et al. (2015) used linkage mapping and GWAS to also confirm the BTA3 map location.Molecular basis: By comparing whole-genome sequence of a small number of Holsteins having the trait, with sequence data from hundreds of control animals, Capitan et al. (2014) confirmed the mapping results of Lawlor et al. (2014) and identified the causal mutation as a de novo variant BTA3 g.C9479761T, which corresponds to a missense mutation p.R160C in the COPA gene that encodes coatomer protein complex, subunit alpha.
By whole-genome sequencing of a Dominant Red heterozygote, Dorshorst et al. (2015) confirmed this causal mutation (c.478C>T; p.Arg160Cys).
The results of Capitan et al. (2014) were formally published by Bourneuf et al. (2017).Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|COPA||coatomer protein complex subunit alpha||Bos taurus||3||NC_037330.1 (9350590..9394691)||COPA||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.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Year Published||PubMed ID(s)||Acknowledgements|
|Holstein||Dominant red||COPA||DR^DR||missense||UMD3.1||3||g.9479761C>T||c.478C>T||p.R160C||2017||28904385||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
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.
|2017||Bourneuf, E., Otz, P., Pausch, H., Jagannathan, V., Michot, P., Grohs, C., Piton, G., Ammermüller, S., Deloche, M.C., Fritz, S., Leclerc, H., Péchoux, C., Boukadiri, A., Hozé, C., Saintilan, R., Créchet, F., Mosca, M., Segelke, D., Guillaume, F., Bouet, S., Baur, A., Vasilescu, A., Genestout, L., Thomas, A., Allais-Bonnet, A., Rocha, D., Colle, M.A., Klopp, C., Esquerré, D., Wurmser, C., Flisikowski, K., Schwarzenbacher, H., Burgstaller, J., Brügmann, M., Dietschi, E., Rudolph, N., Freick, M., Barbey, S., Fayolle, G., Danchin-Burge, C., Schibler, L., Bed'Hom, B., Hayes, B.J., Daetwyler, H.D., Fries, R., Boichard, D., Pin, D., Drögemüller, C., Capitan, A. :|
|Rapid discovery of de novo deleterious mutations in cattle enhances the value of livestock as model species. Sci Rep 7:11466, 2017. Pubmed reference: 28904385. DOI: 10.1038/s41598-017-11523-3.|
|2015||Dorshorst, B., Henegar, C., Liao, X., Sällman Almén, M., Rubin, C.J., Ito, S., Wakamatsu, K., Stothard, P., Van Doormaal, B., Plastow, G., Barsh, G.S., Andersson, L. :|
|Dominant Red Coat Color in Holstein Cattle Is Associated with a Missense Mutation in the Coatomer Protein Complex, Subunit Alpha (COPA) Gene. PLoS One 10:e0128969, 2015. Pubmed reference: 26042826. DOI: 10.1371/journal.pone.0128969.|
|2014||Capitan, A., Michot, P., Guillaume, F., Grohs, C., Djari, A., Fritz, S., Barbey, S., Otz, P., Bourneuf, E., Rocha, D., Esquerré, D., Gallard, Y., Klopp, C., Boichard, D. :|
|Rapid discovery of mutations responsible for sporadic dominant genetic defects in livestock using genome sequence data: Enhancing the value of farm animals as model species. 10th World Congr. Genet. Appl. Livest. Sci., Aug. 21 :presentation 182, 2014.|
|Lawlor, T.J., VanRaden, P.M., Null, D., Levisee, J., Dorhorst, B. :|
|Using haplotypes to unravel the inheritance of Holstein coat color. Proc. 10th World Congr. Genet. Appl. Livest. Prod., Vancouver, BC, Canada, Aug. 17–22 :Comm. 289, 2014.|
|2010||Dreger, DL., Schmutz, SM. :|
|The variant red coat colour phenotype of Holstein cattle maps to BTA27. Anim Genet 41:109-12, 2010. Pubmed reference: 19793268. DOI: 10.1111/j.1365-2052.2009.01969.x.|
|2006||Leduc, M. :|
|The various mechanisms of red colour transmission in the Holstein breed. Holstein Journal 69:17-19, 2006.|
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