Local effects of limited recombination: historical perspective and consequences for population estimates of adaptive evolution

J Hered. 2010 Mar-Apr:101 Suppl 1:S127-34. doi: 10.1093/jhered/esq012.

Abstract

Recent years have witnessed the integration of theoretical advances in population genetics with large-scale analyses of complete genomes, with a growing number of studies suggesting pervasive natural selection that includes frequent deleterious as well as adaptive mutations. In finite populations, however, mutations under selection alter the fate of genetically linked mutations (the so-called Hill-Robertson effect). Here we review the evolutionary consequences of selection at linked sites (linked selection) focusing on its effects on nearby nucleotides in genomic regions with nonreduced recombination. We argue that these local effects of linkage may account for differences in selection intensity among genes. We also show that even high levels of recombination are unlikely to remove all effects of linked selection, causing a reduction in the polymorphism to divergence ratio (r(pd)) at neutral sites. Because a number of methods employed to estimate the magnitude and frequency of adaptive mutations take reduced r(pd) as evidence of positive selection, ignoring local linkage effects may lead to misleading estimates of the proportion of adaptive substitutions and estimates of positive selection. These biases are caused by employing methods that do not account for local variation in the relative effective population size (N(e)) caused by linked selection.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Review

MeSH terms

  • Adaptation, Biological / genetics*
  • Biological Evolution*
  • Genetic Linkage*
  • Genetics, Population*
  • Models, Genetic*
  • Mutation / genetics
  • Recombination, Genetic / genetics*
  • Selection, Genetic*