PRDM9 variation strongly influences recombination hot-spot activity and meiotic 
instability in humans

Berg, Ingrid L.; Neumann, Rita; Lam, Kwan-Wood G; Sarbajna, Shriparna; Odenthal-Hesse, Linda; May, Celia A.; Jeffreys, Alec J.

doi:10.1038/ng.658

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PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans

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Citation

Berg, I. L., Neumann, R., Lam, K.-W.-G., Sarbajna, S., Odenthal-Hesse, L., May, C. A., et al. (2010). PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans. Nature Genetics, 42(10), 859-863. doi:10.1038/ng.658.

Cite as: https://hdl.handle.net/11858/00-001M-0000-0028-651B-E

Abstract

PRDM9 has recently been identified as a likely trans regulator of meiotic recombination hot spots in humans and mice1–3. PRDM9 contains a zinc finger array that, in humans, can recognize a short sequence motif associated with hot spots4, with binding to this motif possibly triggering hot-spot activity via chromatin remodeling5. We now report that human genetic variation at the PRDM9 locus has a strong effect on sperm hot-spot activity, even at hot spots lacking the sequence motif. Subtle changes within the zinc finger array can create hot-spot nonactivating or enhancing variants and can even trigger the appearance of a new hot spot, suggesting that PRDM9 is a major global regulator of hot spots in humans. Variation at the PRDM9 locus also influences aspects of genome instability—specifically, a megabase-scale rearrangement underlying two genomic disorders6 as well as minisatellite instability7—implicating PRDM9 as a risk factor for some pathological genome rearrangements.