OMIA 000202-9793 : Coat colour, oculocutaneous albinism type I (OCA1), TYR-related in Equus asinus

In other species: domestic cat , cattle , dog , rabbit , water buffalo , 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 , red deer , Japanese raccoon dog , Japanese ratsnake

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

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2016

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

Molecular basis: Utzeri et al. (2016): a likely causal mutation for albinism of the feral Asinara white donkeys is "missense mutation (c.604C>G; p.His202Asp) in a highly conserved amino acid position (even across kingdoms), which disrupts the first copper-binding site (CuA) of functional protein, was identified in the homozygous condition (G/G . . . ) in all Asinara white albino donkeys and in the albino son of a trio".

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
TYR tyrosinase Equus asinus - no genomic information (-..-) TYR Homologene, Ensembl, NCBI gene


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
Coat colour, albinism TYR missense c.604C>G p.(H202D) 2016 26763160


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.
2016 Utzeri, V.J., Bertolini, F., Ribani, A., Schiavo, G., Dall'Olio, S., Fontanesi, L. :
The albinism of the feral Asinara white donkeys (Equus asinus) is determined by a missense mutation in a highly conserved position of the tyrosinase (TYR) gene deduced protein. Anim Genet 47:120-4, 2016. Pubmed reference: 26763160. DOI: 10.1111/age.12386.
1964 Colombani, B. :
A case of total albinism in a Sardinian ass Annali della Facolta di Medicina Veterinaria Universita di Pisa 16:76-81, 1964.

Edit History

  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 02 Jun 2016