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  Variants of the protein PRDM9 differentially regulate a set of human meiotic recombination hotspots highly active in African populations

Berg, I. L., Neumann, R., Sarbajna, S., Odenthal-Hesse, L., Butler, N. J., & Jeffreys, a. A. J. (2011). Variants of the protein PRDM9 differentially regulate a set of human meiotic recombination hotspots highly active in African populations. Proceedings of the National Academy of Sciences of the United States of America, 108(30), 12378-12383. doi:10.1073/pnas.1109531108.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0028-63D2-D Version Permalink: http://hdl.handle.net/21.11116/0000-0004-C90E-B
Genre: Journal Article

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Berg, Ingrid L., Author
Neumann, Rita, Author
Sarbajna, Shriparna, Author
Odenthal-Hesse, Linda1, Author              
Butler, Nicola J., Author
Jeffreys, and Alec J., Author
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1External Organizations, ou_persistent22              

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Free keywords: linkage disequilibrium; sperm; cross-over; conversion; meiotic drive
 Abstract: PRDM9 is a major specifier of human meiotic recombination hotspots, probably via binding of its zinc-finger repeat array to a DNA sequence motif associated with hotspots. However, our viewof PRDM9 regulation, in terms ofmotifs defined and hotspots studied, has a strong bias toward the PRDM9 A variant particularly common in Europeans. We show that population diversity can reveal a second class of hotspots specifically activated by PRDM9 variants common in Africans but rare in Europeans. These Africanenhanced hotspots nevertheless share very similar propertieswith their counterparts activated by the A variant. The specificity of hotspot activation is such that individuals with differing PRDM9 genotypes, evenwithin the same population, can use substantially if not completely different sets of hotspots. Each African-enhanced hotspot is activated by a distinct spectrum of PRDM9 variants, despite the fact that all are predicted to bind the same sequence motif. This differential activation points to complex interactions between the zinc-finger array and hotspots and identifies features of the array that might be important in controlling hotspot activity.

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Language(s): eng - English
 Dates: 2011-07-12
 Publication Status: Published online
 Pages: -
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 Table of Contents: -
 Rev. Method: -
 Identifiers: DOI: 10.1073/pnas.1109531108
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Title: Proceedings of the National Academy of Sciences of the United States of America
  Other : Proc. Natl. Acad. Sci. USA
Source Genre: Journal
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Publ. Info: Washington, DC : National Academy of Sciences
Pages: - Volume / Issue: 108 (30) Sequence Number: - Start / End Page: 12378 - 12383 Identifier: ISSN: 0027-8424 (print)
ISSN: 1091-6490 (online)
CoNE: https://pure.mpg.de/cone/journals/resource/954925427230