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

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.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0028-651B-E Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0028-81E2-C
Genre: Journal Article

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Berg, Ingrid L., Author
Neumann, Rita, Author
Lam, Kwan-Wood G, Author
Sarbajna, Shriparna, Author
Odenthal-Hesse, Linda1, Author              
May, Celia A., Author
Jeffreys, Alec J., Author
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1External Organizations, ou_persistent22              

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 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.

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Language(s): eng - English
 Dates: 2010-05-192010-08-112010-09-052010-10
 Publication Status: Published in print
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 Identifiers: DOI: 10.1038/ng.658
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Title: Nature Genetics
  Other : Nature Genet.
Source Genre: Journal
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Publ. Info: New York, NY : Nature America, Inc.
Pages: - Volume / Issue: 42 (10) Sequence Number: - Start / End Page: 859 - 863 Identifier: ISSN: 1061-4036 (print)
ISSN: 1546-1718 (online)
CoNE: https://pure.mpg.de/cone/journals/resource/954925598609