X/Y translocations resulting from recombination between homologous sequences on Xp and Yq.
X/Y translocations resulting from recombination between homologous sequences on Xp and Yq.
复制标题
Xp 和 Yq 上同源序列之间的重组导致 X/Y 易位。
DOI：
10.1073/pnas.88.20.8944
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发表时间：
1991
影响因子：
11.1
通讯作者：
Shapiro,LJ
中科院分区：
文献类型：
--
作者：
Yen,PH;Tsai,SP;Wenger,SL;Steele,MW;Mohandas,TK;Shapiro,LJ
已经鉴定了人类X和Y染色体之间的几个序列同源性区域。这些片段被认为代表了这些染色体的区域，这些染色体在相对较近的进化时期进行了减数分裂重组。通常，X和Y染色体在减数分裂期间配对，并且仅在两条染色体的远端短臂处的假常染色体区域内交换DNA。然而，已经表明，涉及其他高度同源性片段的异常重组可能是产生X/Y易位的原因。我们研究了四个X/Y易位患者使用分子探针检测同源序列的X和Y染色体。在一个易位中，断点已被分离和测序。作图数据与同源重组引起X/Y易位的假设一致。来自一个易位的测序数据直接证明了这一点。
Several regions of sequence homology between the human X and Y chromosomes have been identified. These segments are thought to represent areas of these chromosomes that have engaged in meiotic recombination in relatively recent evolutionary times. Normally, the X and Y chromosomes pair during meiosis and exchange DNA only within the pseudoautosomal region at the distal short arms of both chromosomes. However, it has been suggested that aberrant recombination involving other segments of high homology could be responsible for the production of X/Y translocations. We have studied four X/Y translocation patients using molecular probes detecting homologous sequences on X and Y chromosomes. In one translocation the breakpoints have been isolated and sequenced. The mapping data are consistent with the hypothesis that X/Y translocations arise by homologous recombination. The sequencing data from one translocation demonstrate this directly.