OMIA 000202-9793 : Coat colour, albinism in Equus asinus

In other species: domestic cat , cattle , dog , rabbit , sheep , Sumatran tiger , western chorus frog , grass carp , golden hamster , gray short-tailed opossum , raccoon , meadow voles , water buffalo , Arizona pocket mouse , nutria , eastern chipmunk , rufous rat-kangaroo , hippopotamus , hares , northern pocket gopher , North American deer mouse , Japanese medaka , rainbow trout , brown bear , American mink , grivet , goldfish , Campbell's desert hamster , humpback whale , axolotl , African clawed frog , turkey vulture , American black bear , domestic ferret , pig , domestic guinea pig , Tufted capuchin , dark-spotted frog , Japanese wrinkled frog , Rice frog , Bornean orangutan , lion

Possibly relevant human trait(s) and/or gene(s) (MIM number): 203100

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 all parts of the body. Due to a non-functional form of the enzyme tyrosinase. Also known as Oculocutaneous albinism (OCA)

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

Variants

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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

References


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