OMIA 001545-9913 : Coat colour, dilution in Bos taurus |
In other species:
domestic yak
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Recessive
Considered a defect:
no
Key variant known:
yes
Year key variant first reported:
2007
Molecular basis:
Gutiérrez-Gil et al. (2007): c.64G>A
Jolly et al. (2008): c.50_52delTTC
Associated gene:| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| PMEL | premelanosome protein | Bos taurus | 5 | NC_037332.1 (57344579..57353378) | PMEL | Homologene, Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
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| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Charolais Galloway Hereford Highland Simmental | Coat colour, dilution | PMEL | deletion, small (<=20) | UMD3.1 | 5 | g.57669913_57669915delTTC | c.50_52delTTC | p.Leu19del | rs385468954 | 2008 | 18408794 | Breed and 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) | ||
| Charolais | Coat colour, dilution | PMEL | missense | UMD3.1 | 5 | g.57669926G>A | c.64G>A | p.Gly22Arg | rs718553050 | 2007 | 17705851 | Breed and 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.
| 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. | ||
| 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. | ||
| 2008 | Jolly, RD., Wills, JL., Kenny, JE., Cahill, JI., Howe, L. : | |
| Coat-colour dilution and hypotrichosis in Hereford crossbred calves. N Z Vet J 56:74-7, 2008. Pubmed reference: 18408794. DOI: 10.1080/00480169.2008.36812. | ||
| 2007 | Gutiérrez-Gil, B., Wiener, P., Williams, J.L. : | |
| Genetic effects on coat colour in cattle: dilution of eumelanin and phaeomelanin pigments in an F2-Backcross Charolais x Holstein population. BMC Genet 8:56, 2007. Pubmed reference: 17705851. DOI: 10.1186/1471-2156-8-56. | ||
| Kühn, C.h., Weikard, R. : | ||
| An investigation into the genetic background of coat colour dilution in a Charolais x German Holstein F2 resource population. Anim Genet 38:109-13, 2007. Pubmed reference: 17302792. DOI: 10.1111/j.1365-2052.2007.01569.x. | ||
| 2004 | Guibert, S., Girardot, M., Leveziel, H., Julien, R., Oulmouden, A. : | |
| Pheomelanin coat colour dilution in French cattle breeds is not correlated with the TYR, TYRP1 and DCT transcription levels. Pigment Cell Res 17:337-45, 2004. Pubmed reference: 15250935. DOI: 10.1111/j.1600-0749.2004.00152.x. |
Edit History
- Created by Frank Nicholas on 24 Feb 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 03 Aug 2017