Oct 25, 2011

Natural selection affects multiple aspects of genetic variation at putatively neutral sites across the human genome

PLoS Genetics
Kirk E LohmuellerRasmus Nielsen

Abstract

A major question in evolutionary biology is how natural selection has shaped patterns of genetic variation across the human genome. Previous work has documented a reduction in genetic diversity in regions of the genome with low recombination rates. However, it is unclear whether other summaries of genetic variation, like allele frequencies, are also correlated with recombination rate and whether these correlations can be explained solely by negative selection against deleterious mutations or whether positive selection acting on favorable alleles is also required. Here we attempt to address these questions by analyzing three different genome-wide resequencing datasets from European individuals. We document several significant correlations between different genomic features. In particular, we find that average minor allele frequency and diversity are reduced in regions of low recombination and that human diversity, human-chimp divergence, and average minor allele frequency are reduced near genes. Population genetic simulations show that either positive natural selection acting on favorable mutations or negative natural selection acting against deleterious mutations can explain these correlations. However, models with strong posit...Continue Reading

  • References122
  • Citations81

Citations

Mentioned in this Paper

Exons
Genome
Recombination, Genetic
Bio-Informatics
Pan troglodytes
School Age Population
DNA Resequencing
Genomics
Codon (Nucleotide Sequence)
Intergenic Sequence

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