Negative selection in humans and fruit flies involves synergistic epistasis

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Science  05 May 2017:
Vol. 356, Issue 6337, pp. 539-542
DOI: 10.1126/science.aah5238

Genetic interactions drive selection

Most individuals carry at least some potentially deleterious variants in their genome. But the effects of these mutations on individuals are not well understood. Sohail et al. examined loss-of-function (LOF) mutations in the genomes of humans and flies. They found that deleterious LOF mutations are further away from each other in the genome than expected by chance, which suggests that genetic interactions are driving selection. Thus, additional mutations do not exhibit an additive effect, and the overall selective parameter is not driven solely by the total number of mutations within the genome. This explains why high levels of variation can be maintained and why sex and recombination are advantageous.

Science, this issue p. 539

  • * The members of the Genome of the Netherlands Consortium are listed in the supplementary materials.

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