The Fine-Scale Structure of Recombination Rate Variation in the Human Genome

• DOI: 10.1126/science.1092500
• Publication Date: 2004-04-22T20:23:24Z
• Authors: Gilean A. T. McVean; Simon R. Myers; Sarah Hunt; Panos Deloukas; David R. Bentley; Peter Donnelly
• Keywords: Variation (astronomy); Recombination rate

The nature and scale of recombination rate variation are largely unknown for most species. In humans, pedigree analysis has documented at the chromosomal level, sperm studies have identified specific hotspots in which crossing-over events cluster. To address whether this picture is representative genome as a whole, we developed validated method estimating rates from patterns genetic variation. From extensive single-nucleotide polymorphism surveys European African populations, find evidence extreme local spanning four orders magnitude, 50% all take place less than 10% sequence. We demonstrate that ubiquitous feature human genome, occurring on average every 200 kilobases or less, but occurs preferentially outside genes.