Broad-scale variation in human genetic diversity levels is predicted by purifying selection on coding and non-coding elements.

ABSTRACT: Analyses of genetic variation in many taxa have established that neutral genetic diversity is shaped by natural selection at linked sites. Whether the mode of selection is primarily the fixation of strongly beneficial alleles (selective sweeps) or purifying selection on deleterious mutations (background selection) remains unknown, however. We address this question in humans by fitting a model of the joint effects of selective sweeps and background selection to autosomal polymorphism data from the 1000 Genomes Project. After controlling for variation in mutation rates along the genome, a model of background selection alone explains ~60% of the variance in diversity levels at the megabase scale. Adding the effects of selective sweeps driven by adaptive substitutions to the model does not imp

SUBMITTER: Murphy DA 

PROVIDER: S-EPMC10299832 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature