Evolutionary Genetic Signatures of Selection on Bone-Related Variation within Human and Chimpanzee Populations.

ABSTRACT: Bone strength and the incidence and severity of skeletal disorders vary significantly among human populations, due in part to underlying genetic differentiation. While clinical models predict that this variation is largely deleterious, natural population variation unrelated to disease can go unnoticed, altering our perception of how natural selection has shaped bone morphologies over deep and recent time periods. Here, we conduct the first comparative population-based genetic analysis of the main bone structural protein gene, collagen type I α 1 (COL1A1), in clinical and 1000 Genomes Project datasets in humans, and in natural populations of chimpanzees. Contrary to predictions from clinical studies, we reveal abundant COL1A1 amino acid variation, predicted to have little asso

SUBMITTER: Stover DA 

PROVIDER: S-EPMC8871609 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature