Please use this identifier to cite or link to this item: http://hdl.handle.net/2381/28684
Title: Transmission distortion affecting human noncrossover but not crossover recombination : a hidden source of meiotic drive
Authors: Odenthal-Hesse, Linda
Berg, Ingrid L.
Veselis, Amelia
Jeffreys, Alec J.
May, Celia A.
First Published: 6-Feb-2014
Publisher: Public Library of Science
Citation: PLoS Genetics, 2014, 10 (2), e1004106
Abstract: Meiotic recombination ensures the correct segregation of homologous chromosomes during gamete formation and contributes to DNA diversity through both large-scale reciprocal crossovers and very localised gene conversion events, also known as noncrossovers. Considerable progress has been made in understanding factors such as PRDM9 and SNP variants that influence the initiation of recombination at human hotspots but very little is known about factors acting downstream. To address this, we simultaneously analysed both types of recombinant molecule in sperm DNA at six highly active hotspots, and looked for disparity in the transmission of allelic variants indicative of any cis-acting influences. At two of the hotspots we identified a novel form of biased transmission that was exclusive to the noncrossover class of recombinant, and which presumably arises through differences between crossovers and noncrossovers in heteroduplex formation and biased mismatch repair. This form of biased gene conversion is not predicted to influence hotspot activity as previously noted for SNPs that affect recombination initiation, but does constitute a powerful and previously undetected source of recombination-driven meiotic drive that by extrapolation may affect thousands of recombination hotspots throughout the human genome. Intriguingly, at both of the hotspots described here, this drive favours strong (G/C) over weak (A/T) base pairs as might be predicted from the well-established correlations between high GC content and recombination activity in mammalian genomes.
DOI Link: 10.1371/journal.pgen.1004106
ISSN: 1553-7390
eISSN: 1553-7404
Links: http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1004106
http://hdl.handle.net/2381/28684
Version: Publisher Version
Status: Peer-reviewed
Type: Journal Article
Rights: Copyright © 2014 Odenthal-Hesse et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Appears in Collections:Published Articles, Dept. of Genetics

Files in This Item:
File Description SizeFormat 
journal.pgen.1004106.pdfPublished (publisher PDF)664.91 kBAdobe PDFView/Open


Items in LRA are protected by copyright, with all rights reserved, unless otherwise indicated.