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
Category: 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: 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".
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|TYR||tyrosinase||Equus asinus||20||NC_052196.1 (58133230..58039511)||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|
|151||Coat colour, albinism||TYR||missense||Naturally occurring variant||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.|
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 02 Jun 2016