A fine-scale map of recombination rates and hotspots across the human genome

Science. 2005 Oct 14;310(5746):321-4. doi: 10.1126/science.1117196.

Abstract

Genetic maps, which document the way in which recombination rates vary over a genome, are an essential tool for many genetic analyses. We present a high-resolution genetic map of the human genome, based on statistical analyses of genetic variation data, and identify more than 25,000 recombination hotspots, together with motifs and sequence contexts that play a role in hotspot activity. Differences between the behavior of recombination rates over large (megabase) and small (kilobase) scales lead us to suggest a two-stage model for recombination in which hotspots are stochastic features, within a framework in which large-scale rates are constrained.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Base Sequence
  • Chromosome Mapping*
  • Chromosomes, Human
  • Evolution, Molecular
  • Female
  • Genome, Human*
  • Humans
  • Male
  • Models, Genetic
  • Polymorphism, Single Nucleotide
  • Recombination, Genetic / genetics*