OMIA:000202-9515 : Coat/skin colour, oculocutaneous albinism type I (OCA1), TYR-related in Sapajus apella (Tufted capuchin) |
In other species: Japanese medaka , axolotl , dark-spotted frog , Japanese wrinkled frog , Rhesus monkey , hamadryas baboon , dog , red fox , domestic ferret , domestic cat , lion , humpback whale , ass (donkey) , pig , red deer , American bison , taurine cattle , rabbit , golden hamster , Mongolian gerbil , domestic guinea pig , Japanese ratsnake , ball python , water buffalo , four-striped grass mouse , ocelot gecko , American mink , Japanese raccoon dog , Rice frog
Categories: Pigmentation phene , Vision / eye phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 203100 (trait) , 606952 (trait) , 606933 (gene)
Mendelian trait/disorder: yes
Disease-related: 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 | NW_022436974.1 (12429630..12326669) | TYR | Homologene, Ensembl , NCBI gene |
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.
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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 355 | Coat colour, albinism | TYR | nonsense (stop-gain) | Naturally occurring variant | c.64C>T | p.(R22*) | 2017 | 28476152 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2017). OMIA:000202-9515: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2017 | Galante Rocha de Vasconcelos, F.T., Hauzman, E., Dutra Henriques, L., Kilpp Goulart, P.R., de Faria Galvão, 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. |
Edit History
- Created by Frank Nicholas on 11 May 2017