In other species: Rhesus monkey , dog , domestic cat , leopard , 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

Disease-related: no

Key variant known: yes

Year key variant first reported: 2023

Species-specific description: Puckett et al. (2023): "The American black bear, Ursus americanus (U. americanus), exhibits a range of colors including the cinnamon morph, which has a similar color to the brown bear, U. arctos, and is found at high frequency in the American southwest. ... Our analyses indicate that the cinnamon TYRP1 variant arose within the western lineage of U. americanus and likely provided a selective advantage in the southwest."

Mapping: Puckett et al. (2023): "A genome-wide association study ... for quantitative hair reflectance values from 151 bears identified 120 single-nucleotide variants (SNVs) above a significance threshold of 10−8 ... . A single peak had the lowest p values and spanned the pigmentation gene TYRP1 ... ."

Molecular basis: Puckett et al. (2023) "identified a significant (p = 1.99 × 10−13) G to A SNV, HiC_scaffold_24:6724152g>a that predicts a missense alteration, p.Arg153Cys ... . This alteration within the luminal domain of TYRP1, a type I transmembrane protein, is within a critical region near the zinc cofactor binding site and thus is likely deleterious ... ."

Associated gene: