OMIA 000202-9557 : Coat colour, oculocutaneous albinism type I (OCA1), TYR-related in Papio hamadryas
In other species: domestic cat , cattle , dog , rabbit , water buffalo , ass , 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 , 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: 2020
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
History: Koga et al. (2020): "An infant hamadryas baboon exhibiting an albino phenotype —white body hair and red eyes— was born to parents with wild-type body color. Pigmentation on some parts of its body surfaced during childhood and progressed with age. This baboon in adulthood has gray hair on parts of its body, such as the tail, distal portion of the legs, and face, with the remainder being white. This pigmentation pattern resembles that of the Siamese cat and the Himalayan variants of the mouse and the mink."
Molecular basis: Koga et al. (2020) "sequenced all the five exons of the tyrosinase (TYR) gene of this albino baboon" and identified a missense mutation "p.(Ala365Thr) . . . [as] a likely candidate for the cause of the albino phenotype in this baboon."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|TYR||Papio hamadryas||-||no genomic information (-..-)||TYR||Ensembl|
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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|
|1162||Siamese coat colour pattern||TYR||missense||Naturally occurring variant||p.(A365T)||ENSPANT00000015629.2:c.1093G>A; A0A096MRE4:p.(Ala365Thr) [Koga et al., 2020]||2020||32053406|
|2020||Koga, A., Hisakawa, C., Yoshizawa, M. :|
|Baboon bearing resemblance in pigmentation pattern to Siamese cat carries a missense mutation in the tyrosinase gene. Genome :, 2020. Pubmed reference: 32053406. DOI: 10.1139/gen-2020-0003.|
- Created by Frank Nicholas on 18 Feb 2020
- Changed by Frank Nicholas on 18 Feb 2020