OMIA 000213-9860 : Coat colour, white in Cervus elaphus

In other species: domestic cat , Bengal tiger , water buffalo

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2020

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.

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 14 Feb 2020
  • Changed by Frank Nicholas on 14 Feb 2020