OMIA 000202-9860 : Coat colour, oculocutaneous albinism type I (OCA1), TYR-related in Cervus elaphus

In other species: domestic cat , cattle , dog , rabbit , water buffalo , ass , Japanese medaka , American mink , humpback whale , domestic ferret , pig , domestic guinea pig , Tufted capuchin , dark-spotted frog , Japanese wrinkled frog , Rice frog , lion , Mongolian gerbil , red fox , hamadryas baboon , Japanese raccoon dog , Japanese ratsnake

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 203100 , 606952 , 606933

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.

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."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
TYR Cervus elaphus - no genomic information (-..-) TYR Ensembl

Variants

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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.

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
White TYR missense CerEla 1.0 2 c.871G>A p.(G291R) 2020 32041521

Reference


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.

Edit History


  • Created by Frank Nicholas on 24 Jun 2020
  • Changed by Tosso Leeb on 24 Jun 2020