PerspectiveHuman Genetics

Hidden features of human hotspots

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Science  14 Nov 2014:
Vol. 346, Issue 6211, pp. 808-809
DOI: 10.1126/science.aaa0612

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During the production of gametes (meiosis), genetic information is exchanged between chromosomes by a process called homologous recombination. Recombination is initiated by the formation of DNA double-strand breaks (DSBs) (1). The repair of DSBs generates reciprocal (or crossing over) and nonreciprocal (non–crossing over) exchanges between chromosomes (2). In humans and mice, recombination occurs at specific sites along chromosomes, also called hotspots, which are predicted binding sites for PR domain containing 9 (PRDM9) protein (3, 4). Sequence variations (polymorphisms) in PRDM9 can lead to differences in crossing-over localization. On page 826 of this issue, Pratto et al. (5) reveal that recombination activity along chromosomes varies among individuals and uncover several unexplored properties of meiotic recombination in humans.