No evidence that selection has been less effective at removing deleterious mutations in Europeans than in Africans.

Bibliographic Collection: 
Publication Type: Journal Article
Authors: Do, Ron; Balick, Daniel; Li, Heng; Adzhubei, Ivan; Sunyaev, Shamil; Reich, David
Year of Publication: 2015
Journal: Nat Genet
Volume: 47
Issue: 2
Pagination: 126-31
Date Published: 2015 Feb
Publication Language: eng
ISSN: 1546-1718
Keywords: African Continental Ancestry Group, Amino Acid Substitution, Animals, Computer Simulation, European Continental Ancestry Group, Gene Frequency, Genetic Variation, Genetics, Population, Genome, Human, Humans, Models, Genetic, Mutation, Neanderthals, Selection, Genetic

Non-African populations have experienced size reductions in the time since their split from West Africans, leading to the hypothesis that natural selection to remove weakly deleterious mutations has been less effective in the history of non-Africans. To test this hypothesis, we measured the per-genome accumulation of nonsynonymous substitutions across diverse pairs of populations. We find no evidence for a higher load of deleterious mutations in non-Africans. However, we detect significant differences among more divergent populations, as archaic Denisovans have accumulated nonsynonymous mutations faster than either modern humans or Neanderthals. To reconcile these findings with patterns that have been interpreted as evidence of the less effective removal of deleterious mutations in non-Africans than in West Africans, we use simulations to show that the observed patterns are not likely to reflect changes in the effectiveness of selection after the populations split but are instead likely to be driven by other population genetic factors.

DOI: 10.1038/ng.3186
Alternate Journal: Nat. Genet.