Genetic architecture and evolution of color variation in American black bears
Author:
Puckett Emily E.ORCID, Davis Isis S., Harper Dawn C., Wakamatsu KazumasaORCID, Battu Gopal, Belant Jerrold L., Beyer Dean E., Carpenter Colin, Crupi Anthony P.ORCID, Davidson Maria, DePerno Christopher S., Forman Nicholas, Fowler Nicholas L.ORCID, Garshelis David L.ORCID, Gould Nicholas, Gunther Kerry, Haroldson MarkORCID, Ito ShosukeORCID, Kocka David, Lackey Carl, Leahy Ryan, Lee-Roney Caitlin, Lewis TaniaORCID, Lutto AshleyORCID, McGowan Kelly, Olfenbuttel Colleen, Orlando Mike, Platt AlexanderORCID, Pollard Matthew D.ORCID, Ramaker MeganORCID, Reich Heather, Sajecki Jaime L., Sell Stephanie K.ORCID, Strules Jennifer, Thompson Seth, van Manen FrankORCID, Whitman CraigORCID, Williamson RyanORCID, Winslow Frederic, Kaelin Christopher B.ORCID, Marks Michael S.ORCID, Barsh Gregory S.ORCID
Abstract
SUMMARYColor variation is a frequent evolutionary substrate for camouflage in small mammals but the underlying genetics and evolutionary forces that drive color variation in natural populations of large mammals are mostly unexplained. The American black bear, Ursus 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. Reflectance and chemical melanin measurements showed little distinction between U. arctos and cinnamon U. americanus individuals. We used a genome-wide association for hair color as a quantitative trait in 151 U. americanus individuals and identified a single major locus (P < 10−13). Additional genomic and functional studies identified a missense alteration (R153C) in Tyrosinase-related protein 1 (TYRP1) that impaired protein localization and decreased pigment production. Population genetic analyses and demographic modeling indicated that the R153C variant arose 9.36kya in a southwestern population where it likely provided a selective advantage, spreading both northwards and eastwards by gene flow. A different TYRP1 allele, R114C, contributes to the characteristic brown color of U. arctos, but is not fixed across the range.HIGHLIGHTSThe cinnamon morph of American black bears and brown bears have different missense mutations in TYRP1 that account for their similar colorationTYRP1 variants in American black bears and brown bears are loss-of-function alleles associated with impaired protein localization to melanosomesIn American black bears, the variant causing the cinnamon morph arose 9,360 years ago in the western lineage where it provides an adaptive advantage, and has spread northwards and eastwards by migration
Publisher
Cold Spring Harbor Laboratory
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