OMIA:002130-9544 : Coat colour, oculocutaneous albinism, OCA2-related in Macaca mulatta (Rhesus monkey)
Categories: Pigmentation phene
Links to MONDO diseases:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2020
Cross-species summary: Tyrosinase-positive oculocutaneous albinism (OCA, type II) is an autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes.
Molecular basis: Wu et al. (2020) "identified [six] rhesus macaque models with clinical characteristics consistent with those of OCA patients according to observations of ocular behavior, fundus examination, and optical coherence tomography. Genomic sequencing revealed a biallelic p.L312I mutation in TYR [see OMIA:000202-9544 for details of the TYR variant] and a homozygous p.S788L mutation in OCA2, both of which were further confirmed to affect melanin biosynthesis via in vitro assays . ... all [six] of these albino monkeys carried [the] homozygous missense mutation, c.2363C>T, in the OCA2 gene. Additionally, three albino subjects ..., were found to exhibit [the] homozygous missense mutation, c.934C>A, in the TYR gene."
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: Wu et al. (2020) "identified six rhesus macaques with an albino appearance characterized by red hair and pink skin ... . These albino monkeys were 1-10 years old, and both male ... and female ... individuals were affected. Apparent horizontal nystagmus was observed in these monkeys ... . Compared with healthy individuals, the iris color was different in the albino subjects ... . ... Fundography of these albino subjects showed extensive hypopigmentation and the absence of a foveal centralis, while the choroid vasculature appeared to show the loss of pigmentation ... ."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|OCA2||oculocutaneous albinism II||Macaca mulatta||7||NC_041760.1 (986188..1272840)||OCA2||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|
|1602||Coat colour, oculocutaneous albinism||OCA2||missense||Naturally occurring variant||c.2363C>T||p.(S788L)||2020||32259106|
Cite this entry
|2020||Wu, K.C., Lv, J.N., Yang, H., Yang, F.M., Lin, R., Lin, Q., Shen, R.J., Wang, J.B., Duan, W.H., Hu, M., Zhang, J., He, Z.L., Jin, Z.B. :|
|Nonhuman primate model of oculocutaneous albinism with TYR and OCA2 mutations. Research (Wash D C) 2020:1658678, 2020. Pubmed reference: 32259106. DOI: 10.34133/2020/1658678.|
- Created by Imke Tammen2 on 14 Aug 2023
- Changed by Imke Tammen2 on 14 Aug 2023