High-resolution mapping of crossovers in human sperm defines a minisatellite-associated recombination hotspot
High-resolution mapping of crossovers in human sperm defines a minisatellite-associated recombination hotspot
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DOI：
10.1016/s1097-2765(00)80138-0
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发表时间：
1998-08-01
期刊：
影响因子：
16
通讯作者：
Neumann, R
中科院分区：
文献类型：
--
作者：
Jeffreys, AJ;Murray, J;Neumann, R
人们对人类染色体减数分裂交叉的精细分布知之甚少。因此，已经开发出直接在人类精子 DNA 中检测和绘制重组产物的方法。对富含 GC 的小卫星 MS32 附近的交叉分析（已知 MS32 通过重复阵列内的转换和交叉而发生突变）揭示了一个强烈且高度局部化的重组热点，该热点以位点上游为中心，并延伸到小卫星的开头。交叉和重复不稳定性的等位基因特异性共抑制表明，热点负责驱动 MS32 的重复更新，因此小卫星可能作为人类基因组中局部减数分裂重组的副产品而进化。
Little is known about the fine-scale distribution of meiotic crossovers in human chromosomes. Methods have therefore been developed for detecting and mapping recombination products directly in human sperm DNA. Analysis of crossovers adjacent to the GC-rich minisatellite MS32, which is known to mutate by conversion and crossover within the repeat array, revealed an intense and highly localized recombination hotspot centered upstream of the locus and extending into the beginning of the minisatellite. Allele-specific cosuppression of crossovers and repeat instability suggests that the hotspot is responsible for driving repeat turnover at MS32 and thus that minisatellites might evolve as by-products of localized meiotic recombination in the human genome.