OMIA:001249-9544 : Coat colour, brown, TYRP1-related in Macaca mulatta (Rhesus monkey)

In other species: dog , American black bear , domestic cat , horse , pig , taurine cattle , goat , sheep , rabbit , golden hamster , North American deer mouse , Mongolian gerbil , American mink

Categories: Pigmentation phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 612271 (trait) , 203290 (trait) , 115501 (gene)

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.”

Associated gene:

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

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
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

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001249-9544: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

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.

Edit History


  • Created by Imke Tammen2 on 14 Aug 2023
  • Changed by Imke Tammen2 on 14 Aug 2023