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人类精子中交叉的高分辨率图谱确定了一个与小卫星相关的重组热点。

High-resolution mapping of crossovers in human sperm defines a minisatellite-associated recombination hotspot.

作者信息

Jeffreys A J, Murray J, Neumann R

机构信息

Department of Genetics, University of Leicester, United Kingdom.

出版信息

Mol Cell. 1998 Aug;2(2):267-73. doi: 10.1016/s1097-2765(00)80138-0.

Abstract

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.

摘要

关于减数分裂交叉在人类染色体中的精细分布,人们了解甚少。因此,已开发出直接在人类精子DNA中检测和定位重组产物的方法。对富含GC的小卫星MS32附近的交叉进行分析,已知该小卫星通过重复序列内的转换和交叉发生突变,结果显示在该位点上游有一个强烈且高度局部化的重组热点,并延伸至小卫星的起始部分。交叉的等位基因特异性共抑制和重复序列不稳定性表明,该热点驱动了MS32处的重复序列更新,因此小卫星可能是人类基因组中局部减数分裂重组的副产物而进化。

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