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Title: PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans.
Authors: Berg, Ingrid L.
Neumann, Rita
Lam, Kwan-Wood G.
Sarbajna, Shriparna
Odenthal-Hesse, Linda
May, Celia A.
Jeffreys, Alec J.
First Published: 5-Sep-2010
Publisher: Nature Publishing Group
Citation: Nature Genetics, 2010, 42 (10), pp. 859-863
Abstract: PRDM9 has recently been identified as a likely trans regulator of meiotic recombination hot spots in humans and mice. PRDM9 contains a zinc finger array that, in humans, can recognize a short sequence motif associated with hot spots, with binding to this motif possibly triggering hot-spot activity via chromatin remodeling. 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 disorders as well as minisatellite instability-implicating PRDM9 as a risk factor for some pathological genome rearrangements.
DOI Link: 10.1038/ng.658
ISSN: 1061-4036
eISSN: 1546-1718
Version: Post-print
Status: Peer-reviewed
Type: Journal Article
Rights: Copyright © 2010, the authors.
Appears in Collections:Published Articles, Dept. of Genetics

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