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首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >Sperm cross-over activity in regions of the human genome showing extreme breakdown of marker association
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Sperm cross-over activity in regions of the human genome showing extreme breakdown of marker association

机译：人类基因组区域中的精子交叉活性显示出标志物结合的极端破坏

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摘要

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.
机译：人口多样性数据最近提供了对人类基因组减数分裂重组的深刻见解，尽管具有推断性，但揭示了由成千上万个交叉热点主导的景观。但是，这些推定热点中很少有针对交叉活性进行直接分析的。现在，我们通过使用标记物关联的极端分解作为高分辨率精子交叉分析的指南，来描述对非常活跃的热点的搜索。这种策略导致隔离了迄今为止描述的最活跃的跨接热点。它们的形态，序列属性和交叉过程与活跃度较低的热点非常相似，但根据种群多样性信息很难预测其在精子中的活性。这些热点中的几个显示出有证据表明伴随交叉发生的基因转换存在偏向，在某些情况下，这与男性交叉活性的变异有关，并且两个热点在不同男性中表现出完全存在/不存在多态性。热点多态性在不太活跃的热点中非常普遍，但奇怪的是，在任何最活跃的热点中都没有看到。与此相反的预测是，极端热点应该最容易受到减数分裂驱动的衰减，而倾向于抑制重组的突变，因此应该显示出快速的进化，从而改变男性之间的活动。最后，这些非常密集的热点为解剖人类的减数分裂重组过程和途径提供了宝贵的资源。

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