Sperm cross-over activity in regions of the human genome showing extreme breakdown of marker association. Export

@article{citeulike:3093447, 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 cross-over hotspots. However, very few of these putative hotspots have been directly analyzed for cross-over activity. We now describe a search for very active hotspots, by using extreme breakdown of marker association as a guide for high-resolution sperm cross-over analysis. This strategy has led to the isolation of the most active cross-over hotspots yet described. Their morphology, sequence attributes, and cross-over 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 hotspots showed evidence for biased gene conversion accompanying cross-over, in some cases associated with variation between men in cross-over 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 favor 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 resource for dissecting meiotic recombination processes and pathways in humans.}, address = {Department of Genetics, University of Leicester, Leicester LE1 7RH, United Kingdom.}, author = {Webb, A. J. and Berg, I. L. and Jeffreys, A.}, citeulike-article-id = {3093447}, citeulike-linkout-0 = {http://dx.doi.org/10.1073/pnas.0804933105}, citeulike-linkout-1 = {http://www.pnas.org/content/105/30/10471.abstract}, citeulike-linkout-2 = {http://www.pnas.org/content/105/30/10471.full.pdf}, citeulike-linkout-3 = {http://view.ncbi.nlm.nih.gov/pubmed/18650392}, citeulike-linkout-4 = {http://www.hubmed.org/display.cgi?uids=18650392}, day = {29}, doi = {10.1073/pnas.0804933105}, issn = {1091-6490}, journal = {Proceedings of the National Academy of Sciences of the United States of America}, keywords = {bgc, hotspots, human, recombination-rates}, month = {July}, number = {30}, pages = {10471--10476}, posted-at = {2008-08-08 09:39:06}, priority = {4}, title = {Sperm cross-over activity in regions of the human genome showing extreme breakdown of marker association.}, url = {http://dx.doi.org/10.1073/pnas.0804933105}, volume = {105}, year = {2008} }

TY - JOUR ID - citeulike:3093447 L3 - citeulike-article-id:3093447 N2 - Population diversity data have recently provided profound, albeit inferential, insights into meiotic recombination across the human genome, revealing a landscape dominated by thousands of cross-over hotspots. However, very few of these putative hotspots have been directly analyzed for cross-over activity. We now describe a search for very active hotspots, by using extreme breakdown of marker association as a guide for high-resolution sperm cross-over analysis. This strategy has led to the isolation of the most active cross-over hotspots yet described. Their morphology, sequence attributes, and cross-over 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 hotspots showed evidence for biased gene conversion accompanying cross-over, in some cases associated with variation between men in cross-over 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 favor 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 resource for dissecting meiotic recombination processes and pathways in humans. IS - 30 JF - Proceedings of the National Academy of Sciences of the United States of America SN - 1091-6490 AD - Department of Genetics, University of Leicester, Leicester LE1 7RH, United Kingdom. EP - 10476 TI - Sperm cross-over activity in regions of the human genome showing extreme breakdown of marker association. VL - 105 SP - 10471 KW - bgc KW - hotspots KW - human KW - recombination-rates AU - Webb, AJ AU - Berg, IL AU - Jeffreys, A PY - 2008/07/29/ UR - http://dx.doi.org/10.1073/pnas.0804933105 ER -