OMIA:001249-9643 : Coat colour, brown, TYRP1-related in Ursus americanus
In other species: dog , domestic cat , horse , pig , cattle , goat , sheep , rabbit , golden hamster , North American deer mouse , Mongolian gerbil , American mink
Categories: Pigmentation phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 612271 (trait) , 203290 (trait) , 115501 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: 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 ... ."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|TYRP1||Ursus americanus||-||no genomic information (-..-)||TYRP1||Ensembl|
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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|
|1518||Cinnamon coat colour||TYRP1||missense||Naturally occurring variant||HiC_scaffold_24||g.6724152G>A||p.(R153C)||2023||36528024|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2023||Caro, T. :|
|Bear essentials. Trends Genet :, 2023. Pubmed reference: 36828727 . DOI: 10.1016/j.tig.2023.02.011.|
|Puckett, E.E., Davis, I.S., Harper, D.C., Wakamatsu, K., Battu, G., Belant, J.L., Beyer, D.E., Carpenter, C., Crupi, A.P., Davidson, M., DePerno, C.S., Forman, N., Fowler, N.L., Garshelis, D.L., Gould, N., Gunther, K., Haroldson, M., Ito, S., Kocka, D., Lackey, C., Leahy, R., Lee-Roney, C., Lewis, T., Lutto, A., McGowan, K., Olfenbuttel, C., Orlando, M., Platt, A., Pollard, M.D., Ramaker, M., Reich, H., Sajecki, J.L., Sell, S.K., Strules, J., Thompson, S., van Manen, F., Whitman, C., Williamson, R., Winslow, F., Kaelin, C.B., Marks, M.S., Barsh, G.S. :|
|Genetic architecture and evolution of color variation in American black bears. Curr Biol 33:86-97.e10, 2023. Pubmed reference: 36528024 . DOI: 10.1016/j.cub.2022.11.042.|
- Changed by Imke Tammen2 on 09 Jan 2023
- Created by Imke Tammen2 on 09 Jan 2023
- Changed by Imke Tammen2 on 23 Jan 2023