Coat colour, dominant red
- Phene ID
- 3005
- Name
- Coat colour, dominant red
- Phene Name
- Also known as Variant Red, Holstein dominant red; Haplotype HDR
- OMIA ID
- 1529
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2014
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 215 | Dominant red | 388990892 | 0 | 3 | NC_037330.1:g.9361962C>T | NM_001105645.1:c.478C>T | NP_001099115.1:p.(R160C) |
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Holstein Friesian (Cattle) | 73 | 9913 | http://purl.obolibrary.org/obo/VBO_0000239 |
Dreger and Schmutz (2010) reported that "The variant red phenotype in Holstein cattle is indistinguishable from the traditional e/e recessive red phenotype caused by a mutation in melanocortin 1 receptor [OMIA 001199-9913], but is inherited as a dominant trait in relation to black". 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^+".
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).