Signatures of Positive Selection: From Selective Sweeps at Individual Loci to Subtle Allele Frequency Changes in Polygenic Adaptation

Mol Ecol. 2016 Jan;25(1):79-88. doi: 10.1111/mec.13288. Epub 2015 Jul 27.


In the past 15 years, numerous methods have been developed to detect selective sweeps underlying adaptations. These methods are based on relatively simple population genetic models, including one or two loci at which positive directional selection occurs, and one or two marker loci at which the impact of selection on linked neutral variation is quantified. Information about the phenotype under selection is not included in these models (except for fitness). In contrast, in the quantitative genetic models of adaptation, selection acts on one or more phenotypic traits, such that a genotype-phenotype map is required to bridge the gap to population genetics theory. Here I describe the range of population genetic models from selective sweeps in a panmictic population of constant size to evolutionary traffic when simultaneous sweeps at multiple loci interfere, and I also consider the case of polygenic selection characterized by subtle allele frequency shifts at many loci. Furthermore, I present an overview of the statistical tests that have been proposed based on these population genetics models to detect evidence for positive selection in the genome.

Keywords: adaptation; evolution; evolutionary theory; natural selection; population genetics; quantitative genetics.

Publication types

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

MeSH terms

  • Adaptation, Biological / genetics*
  • Gene Frequency*
  • Genetic Loci
  • Genetics, Population*
  • Models, Genetic*
  • Mutation Rate
  • Phenotype
  • Selection, Genetic*