4.8 Article

Classic Selective Sweeps Were Rare in Recent Human Evolution

Journal

SCIENCE
Volume 331, Issue 6019, Pages 920-924

Publisher

AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/science.1198878

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Funding

  1. NSF
  2. National Research Service [GM087069]
  3. Wellcome Trust [WT086084MA]
  4. Israeli Science Foundation [1492/10]
  5. NIH [GM083228, GM20373, GM72861]

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Efforts to identify the genetic basis of human adaptations from polymorphism data have sought footprints of classic selective sweeps (in which a beneficial mutation arises and rapidly fixes in the population). Yet it remains unknown whether this form of natural selection was common in our evolution. We examined the evidence for classic sweeps in resequencing data from 179 human genomes. As expected under a recurrent-sweep model, we found that diversity levels decrease near exons and conserved noncoding regions. In contrast to expectation, however, the trough in diversity around human-specific amino acid substitutions is no more pronounced than around synonymous substitutions. Moreover, relative to the genome background, amino acid and putative regulatory sites are not significantly enriched in alleles that are highly differentiated between populations. These findings indicate that classic sweeps were not a dominant mode of human adaptation over the past similar to 250,000 years.

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