Coop Graham, Wen Xiaoquan, Ober Carole, Pritchard Jonathan K, Przeworski Molly
Department of Human Genetics, University of Chicago, 920 East 58th Street, Cummings Life Science Center, Chicago, IL 60637, USA.
Science. 2008 Mar 7;319(5868):1395-8. doi: 10.1126/science.1151851. Epub 2008 Jan 31.
Recombination plays a crucial role in meiosis, ensuring the proper segregation of chromosomes. Recent linkage disequilibrium (LD) and sperm-typing studies suggest that recombination rates vary tremendously across the human genome, with most events occurring in narrow "hotspots." To examine variation in fine-scale recombination patterns among individuals, we used dense, genome-wide single-nucleotide polymorphism data collected in nuclear families to localize crossovers with high spatial resolution. This analysis revealed that overall recombination hotspot usage is similar in males and females, with individual hotspots often active in both sexes. Across the genome, roughly 60% of crossovers occurred in hotspots inferred from LD studies. Notably, however, we found extensive and heritable variation among both males and females in the proportion of crossovers occurring in these hotspots.
重组在减数分裂中起着至关重要的作用，确保染色体的正确分离。近期的连锁不平衡（LD）和精子分型研究表明，人类基因组中重组率差异极大，大多数重组事件发生在狭窄的“热点”区域。为了研究个体间精细尺度重组模式的差异，我们利用在核心家庭中收集的全基因组密集单核苷酸多态性数据，以高空间分辨率定位交叉互换。该分析表明，男性和女性的总体重组热点使用情况相似，个体热点通常在两性中都活跃。在整个基因组中，约60%的交叉互换发生在从LD研究推断出的热点区域。然而，值得注意的是，我们发现男性和女性在这些热点区域发生的交叉互换比例上存在广泛且可遗传的差异。
