OMIA:001249-9544 : Coat colour, brown, TYRP1-related in Macaca mulatta (Rhesus monkey)
Categories: 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: 2023
Species-specific name: golden or blond
Molecular basis: Peterson et al. (2023) “used independent GWAS analysis of two rhesus macaque populations to attribute the genetic basis for the golden rhesus macaque phenotype to variants in the TYRP1 and TYR genes. … Two missense variants were identified in the Tyrosinase-related protein 1 (TYRP1) gene (Asp343Gly and Leu415Pro) that segregate with the phenotype. An additional and distinct association was also found with a Tyrosinase (TYR) variant (His256Gln) [see OMIA:000202-9544 for details on the TYR variant], indicating the light-colored fur phenotype can result from multiple genetic mechanisms. ... Based on the pedigree analysis and prevalence of the two candidate TYRP1 variants, we hypothesized that the ONPRC golden phenotype was caused by homozygous or compound heterozygous genotypes of either p.Asp343Gly or p.Leu415Pro missense variants. The two alleles are separated by less than 2,500 bp and the observed inheritance pattern is consistent with them residing on separate haplotypes."
Clinical features: Peterson et al. (2023): “The “golden” rhesus macaque ( Macaca mulatta) phenotype is a naturally occurring, inherited trait with a visually distinct pigmentation pattern resulting in light blonde colored fur. Retinal imaging also reveals consistent hypopigmentation and occasional foveal hypoplasia.”
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|TYRP1||tyrosinase-related protein 1||Macaca mulatta||15||NC_041768.1 (70896634..70880394)||TYRP1||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|
|1598||Coat colour, golden||TYRP1||missense||Naturally occurring variant||15||p.(L415P)||2023||37522525|
|1597||Coat colour, golden||TYRP1||missense||Naturally occurring variant||15||p.(N343G)||2023||37522525|
Cite this entry
|2023||Peterson, S.M., Watowich, M.M., Renner, L., Martin, S., Offenberg, E., Lea, A., Montague, M.J., Higham, J.P., Snyder-Mackler, N., Neuringer, M., Ferguson, B. :|
|Genetic variants in melanogenesis proteins TYRP1 and TYR are associated with the golden rhesus macaque phenotype. G3 (Bethesda) :, 2023. Pubmed reference: 37522525 . DOI: 10.1093/g3journal/jkad168.|
- Created by Imke Tammen2 on 14 Aug 2023
- Changed by Imke Tammen2 on 14 Aug 2023