Detecting a local signature of genetic hitchhiking along a recombining chromosome

Genetics. 2002 Feb;160(2):765-77. doi: 10.1093/genetics/160.2.765.


The theory of genetic hitchhiking predicts that the level of genetic variation is greatly reduced at the site of strong directional selection and increases as the recombinational distance from the site of selection increases. This characteristic pattern can be used to detect recent directional selection on the basis of DNA polymorphism data. However, the large variance of nucleotide diversity in samples of moderate size imposes difficulties in detecting such patterns. We investigated the patterns of genetic variation along a recombining chromosome by constructing ancestral recombination graphs that are modified to incorporate the effect of genetic hitchhiking. A statistical method is proposed to test the significance of a local reduction of variation and a skew of the frequency spectrum caused by a hitchhiking event. This method also allows us to estimate the strength and the location of directional selection from DNA sequence data.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes / genetics*
  • Evolution, Molecular
  • Genetic Linkage*
  • Heterozygote
  • Likelihood Functions
  • Models, Theoretical*
  • Mutation / genetics
  • Polymorphism, Genetic / genetics
  • Recombination, Genetic*