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首页> 外文期刊>Human mutation >Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly
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Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly

机译：在种系Chrocothriptic染色体中，可以检测和处理非常短的DNA段，并通过修理机械重新组装

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Abstract Analyses at nucleotide resolution reveal unexpected complexity of seemingly simple and balanced chromosomal rearrangements. Chromothripsis is a rare complex aberration involving local shattering of one or more chromosomes and reassembly of the resulting DNA segments. This can influence gene expression and cause abnormal phenotypes. We studied the structure and mechanism of a seemingly balanced de novo complex rearrangement of four chromosomes in a boy with developmental and growth delay. Microarray analysis revealed two paternal de novo deletions of 0.7 and 2.5?Mb at two of the breakpoints in 1q24.3 and 6q24.1‐q24.2, respectively, which could explain most symptoms of the patient. Subsequent whole‐genome mate‐pair sequencing confirmed the chromothriptic nature of the rearrangement. The four participating chromosomes were broken into 29 segments longer than 1?kb. Sanger sequencing of all breakpoint junctions revealed additional complexity compatible with the involvement of different repair pathways. We observed translocation of a 33?bp long DNA fragment, which may have implications for the definition of the lower size limit of structural variants. Our observations and literature review indicate that even very small fragments from shattered chromosomes can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly.
机译：核苷酸分辨率的抽象分析揭示了看似简单而平衡的染色体重排的意外复杂性。染色体三倍体是一种罕见的复杂畸变，涉及一条或多条染色体的局部破碎和由此产生的DNA片段的重组。这会影响基因表达并导致异常表型。我们研究了一名发育和生长迟缓男孩的四条染色体的看似平衡的从头复合重排的结构和机制。微阵列分析显示两个父系从头缺失0.7和2.5？在2014年第1季度的两个断点处。3和6q24。1-q24。分别为2，这可以解释患者的大多数症状。随后的全基因组配对测序证实了重排的显色性。四条参与的染色体被分成29段，长度超过1？kb。所有断点连接的Sanger测序揭示了与不同修复途径相关的额外复杂性。我们观察到一个33？bp长的DNA片段，这可能对定义结构变体的下限有意义。我们的观察和文献综述表明，在种系染色体重组过程中，修复机器甚至可以检测到来自破碎染色体的非常小的片段，并对其进行处理。

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