OMIA 001545-9913 : Coat colour, dilution, PMEL-related in Bos taurus |
In other species:
domestic yak
Possibly relevant human trait(s) and/or gene(s) (MIM number):
155550
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Recessive
Considered a defect:
no
Key variant known:
yes
Year key variant first reported:
2007
Cross-species summary:
FN acknowledges invaluable feedback from Cord Drögemüller that has led to the name of this phene being changed from "Coat colour, dilution" to "Coat colour, dilution, PMEL-related".
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. 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.
| 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.
| 2020 | Knaust, J., Weikard, R., Albrecht, E., Brunner, R.M., Günther, J., Kühn, C. : | |
| Indication of Premelanosome Protein (PMEL) Expression Outside of Pigmented Bovine Skin Suggests Functions Beyond Eumelanogenesis. Genes (Basel) 11:, 2020. Pubmed reference: 32668786. DOI: 10.3390/genes11070788. | ||
| 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