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首页> 外文期刊>Cell cycle >Chromosomal translocations mediated by palindromic DNA.
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Chromosomal translocations mediated by palindromic DNA.

机译：回文DNA介导的染色体易位。

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摘要

There is evidence accumulating to suggest that non-B DNA structures have a potential for genomic instability that induces genomic rearrangements including translocations and deletions. One of the best studied examples is the recurrent t(11;22) constitutional translocation in humans that is mediated by palindromic AT-rich repeats (PATRRs) on chromosomes 11q23 and 22q11. Cloned breakpoint sequences favor adopting a cruciform configuration in vitro. Analysis of the junction fragments implicates frequent double-strand-breaks at the center of both palindromic regions, followed by repair through the nonhomologous end joining pathway. De novo examples of the translocation are detected at a substantial frequency in sperm samples from normal healthy males, but not in other normal somatic tissues or cell lines derived from humans. Further our recent findings indicate that polymorphism of the PATRR affects the frequency of de novo translocation events and symmetrical alleles preferentially generate the translocation. We propose that the symmetric PATRR is likely to adopt a cruciform structure in male meiotic cells, creating genomic instability that leads to the recurrent translocation.
机译：越来越多的证据表明，非B DNA结构具有潜在的基因组不稳定性，可引起基因组重排，包括易位和缺失。研究最深入的例子之一是人的复发性t（11; 22）体质易位，这是由11q23和22q11号染色体上回文AT富集重复（PATRR）介导的。克隆的断点序列倾向于在体外采用十字形构型。对连接片段的分析表明在两个回文区的中心都存在频繁的双链断裂，然后通过非同源末端连接途径进行修复。从正常健康男性的精子样本中以大量频率检测到易位的新例子，但在其他正常人体组织或人类衍生的细胞系中则未检出。此外，我们最近的发现表明，PATRR的多态性影响从头易位事件的频率，对称等位基因优先产生易位。我们建议，对称的PATRR可能在雄性减数分裂细胞中采用十字形结构，从而导致基因组不稳定，从而导致反复易位。

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