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dc.contributor.authorDorshorst, Benen_US
dc.contributor.authorHenegar, Corneliuen_US
dc.contributor.authorLiao, Xiaopingen_US
dc.contributor.authorAlmen, Markus Sallmanen_US
dc.contributor.authorRubin, Carl-Johanen_US
dc.contributor.authorIto, Shosukeen_US
dc.contributor.authorWakamatsu, Kazumasaen_US
dc.contributor.authorStothard, Paulen_US
dc.contributor.authorVan Doormaal, Brianen_US
dc.contributor.authorPlastow, Grahamen_US
dc.contributor.authorBarsh, Gregory S.en_US
dc.contributor.authorAndersson, Leifen_US
dc.identifier.otherUNSP e0128969en_US
dc.description.abstractCoat color in Holstein dairy cattle is primarily controlled by the melanocortin 1 receptor (MC1R) gene, a central determinant of black (eumelanin) vs. red/brown pheomelanin synthesis across animal species. The major MC1R alleles in Holsteins are Dominant Black (MC1RD) and Recessive Red (MC1Re). A novel form of dominant red coat color was first observed in an animal born in 1980. The mutation underlying this phenotype was named Dominant Red and is epistatic to the constitutively activated MC1RD. Here we show that a missense mutation in the coatomer protein complex, subunit alpha (COPA), a gene with previously no known role in pigmentation synthesis, is completely associated with Dominant Red in Holstein dairy cattle. The mutation results in an arginine to cysteine substitution at an amino acid residue completely conserved across eukaryotes. Despite this high level of conservation we show that both heterozygotes and homozygotes are healthy and viable. Analysis of hair pigment composition shows that the Dominant Red phenotype is similar to the MC1R Recessive Red phenotype, although less effective at reducing eumelanin synthesis. RNA-seq data similarly show that Dominant Red animals achieve predominantly pheomelanin synthesis by downregulating genes normally required for eumelanin synthesis. COPA is a component of the coat protein I seven subunit complex that is involved with retrograde and cis-Golgi intracellular coated vesicle transport of both protein and RNA cargo. This suggests that Dominant Red may be caused by aberrant MC1R protein or mRNA trafficking within the highly compartmentalized melanocyte, mimicking the effect of the Recessive Red loss of function MC1R allele.en_US
dc.rightsCreative Commons Attribution 4.0en_US
dc.titleDominant Red Coat Color in Holstein Cattle Is Associated with a Missense Mutation in the Coatomer Protein Complex, Subunit Alpha (COPA) Geneen_US
dc.typeArticle - Refereeden_US
dc.description.versionPeer Revieweden_US
dc.title.serialPLOS ONEen_US

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Creative Commons Attribution 4.0
License: Creative Commons Attribution 4.0