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Title: Sperm cross-over activity in regions of the human genome showing extreme breakdown of marker association.
Authors: Webb, Adam J.
Berg, Ingrid L.
Jeffreys, Alec J.
First Published: 23-Jul-2008
Publisher: National Academy Of Sciences
Citation: Proceedings of the National Academy of Sciences, 2008, 105 (30), pp. 10471-10476
Abstract: Population diversity data have recently provided profound, albeit inferential, insights into meiotic recombination across the human genome, revealing a landscape dominated by thousands of crossover hotspots. However, very few of these putative hotspots have been directly analysed for crossover activity. We now describe a search for very active hotspots, using extreme breakdown of marker association as a guide for high-resolution sperm crossover analysis. This strategy has led to the isolation of the most active crossover hotspots yet described. Their morphology, sequence attributes and crossover processes are very similar to those seen at less active hotspots, but their activity in sperm is poorly predicted from population diversity information. Several of these new hotspots showed evidence for biased gene conversion accompanying crossover, in some cases associated with variation between men in crossover activity and with two hotspots showing complete presence/absence polymorphism in different men. Hotspot polymorphism is very common at less active hotspots but curiously was not seen at any of the most active hotspots. This contrasts with the prediction that extreme hotspots should be the most vulnerable to attenuation by meiotic drive in favour of mutations that suppress recombination, and should therefore show rapid rate evolution and thus variation in activity between men. Finally, these very intense hotspots provide a valuable new resource for dissecting meiotic recombination processes and pathways in humans.
ISSN: 0027-8424
Type: Article
Description: This is the author's final draft of the paper published as PNAS, 2008, 105 (30), pp. 10471-10476. The final published version is available at, Doi: 10.1073/pnas.0804933105
Appears in Collections:Published Articles, Dept. of Genetics

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