OMIA 000202-9515 : Coat colour, oculocutaneous albinism type I (OCA1), TYR-related in Sapajus apella

In other species: domestic cat , cattle , dog , rabbit , water buffalo , ass , Japanese medaka , American mink , humpback whale , domestic ferret , pig , domestic guinea pig , 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

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2017

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: Galante Rocha de Vasconcelos et al. (2017): c.64C>T; p.R22*

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
TYR Sapajus apella - 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
Coat colour, albinism TYR nonsense (stop-gain) c.64C>T p.(R22*) 2017 28476152

Reference


2017 Galante Rocha de Vasconcelos, F.T., Hauzman, E., Dutra Henriques, L., Kilpp Goulart, P.R., de Faria Galv√£o, O., Sano, R.Y., da Silva Souza, G., Lynch Alfaro, J., de Lima Silveira, L.C., Fix Ventura, D., Oliveira Bonci, D.M. :
A novel nonsense mutation in the tyrosinase gene is related to the albinism in a capuchin monkey (Sapajus apella). BMC Genet 18:39, 2017. Pubmed reference: 28476152. DOI: 10.1186/s12863-017-0504-8.

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  • Created by Frank Nicholas on 11 May 2017