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Philosophical Transactions of the Royal Society B: Biological Sciences logoLink to Philosophical Transactions of the Royal Society B: Biological Sciences
. 2004 Jan 29;359(1441):141–152. doi: 10.1098/rstb.2003.1372

Meiotic recombination hot spots and human DNA diversity.

Alec J Jeffreys 1, J Kim Holloway 1, Liisa Kauppi 1, Celia A May 1, Rita Neumann 1, M Timothy Slingsby 1, Adam J Webb 1
PMCID: PMC1693298  PMID: 15065666

Abstract

Meiotic recombination plays a key role in the maintenance of sequence diversity in the human genome. However, little is known about the fine-scale distribution and processes of recombination in human chromosomes, or how these impact on patterns of human diversity. We have therefore developed sperm typing systems that allow human recombination to be analysed at very high resolution. The emerging picture is that human crossovers are far from randomly distributed but instead are targeted into very narrow hot spots that can profoundly influence patterns of haplotype diversity in the human genome. These hot spots provide fundamental information on processes of human crossover and gene conversion, as well as evidence that they can violate basic rules of Mendelian inheritance.

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Selected References

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