OMIA:000202-9860 : Coat colour, oculocutaneous albinism type I (OCA1), TYR-related in Cervus elaphus (red deer)
In other species: Japanese medaka , dark-spotted frog , Japanese wrinkled frog , Tufted capuchin , Rhesus monkey , hamadryas baboon , dog , red fox , domestic ferret , domestic cat , lion , humpback whale , ass (donkey) , pig , American bison , taurine cattle , rabbit , golden hamster , Mongolian gerbil , domestic guinea pig , Japanese ratsnake , water buffalo , four-striped grass mouse , ocelot gecko , American mink , Japanese raccoon dog , Rice frog
Categories: Pigmentation phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2020
Cross-species summary: Congenital lack of pigment in most parts of the body. Due to a non-functional form of the enzyme tyrosinase. Also known as Oculocutaneous albinism (OCA), Acromelanism and as the Himalayan coat-colour pattern
Inheritance: Reiner et al. (2020): "the inheritance of the white colour in the red deer of the Reinhardswald was established as autosomal recessive."
Molecular basis: Whole-genome sequencing of one white hind and her brown calf enabled Reiner et al. (2020) to identify a mutation in the tyrosinase (TYR) gene, namely c.871G>A, p.(G291R), as a likely causal variant of the white phenotype.
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: Red deer homozygous for the 291-Arg allele were reported to have a very pale ("white") coat color with females being lighter than males. The eyes of the animals were pigmented (Reiner et al. 2020). This suggests that the 291-Arg allele represents a hypomorphic rather than a null allele.
Prevalence: Reiner et al. (2020): "In the red deer (Cervus elaphus) population of Reinhardswald in Germany, about 5% of animals have a white coat colour that is not associated with albinism." These authors also reported that "From 194 brown red deer of the Reinhardswald 86% were homozygous and 14% were carriers of the white allele. Considering the estimation by the forest officers of the Reinhardswald of 50 white animals among the total population of around 1000 red deer (approximately 5%), genotype frequencies for GG, GA and AA were estimated as 81.7, 13.3 and 5%, respectively. Under this assumption, the allele frequencies are estimated to be 88.4% (G) and 11.6% (A), respectively."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|TYR||Cervus elaphus||2||NC_057816.1 (42929807..43044959)||TYR||Homologene, Ensembl , NCBI gene|
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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|
|1159||White||TYR||missense||Naturally occurring variant||CerEla 1.0||2||c.871G>A||p.(G291R)||2020||32041521|
Cite this entry
|2020||Reiner, G., Tramberend, K., Nietfeld, F., Volmer, K., Wurmser, C., Fries, R., Willems, H. :|
|A genome-wide scan study identifies a single nucleotide substitution in the tyrosinase gene associated with white coat colour in a red deer (Cervus elaphus) population. BMC Genet 21:14, 2020. Pubmed reference: 32041521. DOI: 10.1186/s12863-020-0814-0.|
- Created by Frank Nicholas on 24 Jun 2020
- Changed by Tosso Leeb on 24 Jun 2020