OMIA:001545-30521 : Coat colour, dilution, PMEL-related in Bos grunniens (domestic yak)
In other species: taurine cattle
Categories: Pigmentation phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 155550 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal dominant
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2014
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: Brown coat colour is associated with a small deletion: c.50_52del; p.Leu18del (Zhang et al., 2014)
Have human generated variants been created, e.g. through genetic engineering and gene editing
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|PMEL||Bos grunniens||-||no genomic information (-..-)||PMEL||Ensembl|
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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.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|540||Coat colour, dilution||PMEL||deletion, small (<=20)||Naturally occurring variant||c.50_52del||p.(L18del)||2014||24989079|
Cite this entry
|2014||Zhang, M.Q., Xu, X., Luo, S.J. :|
|The genetics of brown coat color and white spotting in domestic yaks (Bos grunniens). Anim Genet 45:652-9, 2014. Pubmed reference: 24989079. DOI: 10.1111/age.12191.|
- Created by Frank Nicholas on 30 Apr 2015