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微同源性介导的末端连接在断点连接处诱导高度诱变。

Microhomology-mediated end joining induces hypermutagenesis at breakpoint junctions.

作者信息

Sinha Supriya, Li Fuyang, Villarreal Diana, Shim Jae Hoon, Yoon Suhyeon, Myung Kyungjae, Shim Eun Yong, Lee Sang Eun

机构信息

Department of Molecular Medicine, Institute of Biotechnology, University of Texas Health Science Center at San Antonio, San Antonio, TX, United States of America.

Children's Hospital of San Antonio, Baylor College of Medicine, San Antonio, TX, United States of America.

出版信息

PLoS Genet. 2017 Apr 18;13(4):e1006714. doi: 10.1371/journal.pgen.1006714. eCollection 2017 Apr.

Abstract

Microhomology (MH) flanking a DNA double-strand break (DSB) drives chromosomal rearrangements but its role in mutagenesis has not yet been analyzed. Here we determined the mutation frequency of a URA3 reporter gene placed at multiple locations distal to a DSB, which is flanked by different sizes (15-, 18-, or 203-bp) of direct repeat sequences for efficient repair in budding yeast. Induction of a DSB accumulates mutations in the reporter gene situated up to 14-kb distal to the 15-bp MH, but more modestly to those carrying 18- and 203-bp or no homology. Increased mutagenesis in MH-mediated end joining (MMEJ) appears coupled to its slower repair kinetics and the extensive resection occurring at flanking DNA. Chromosomal translocations via MMEJ also elevate mutagenesis of the flanking DNA sequences 7.1 kb distal to the breakpoint junction as compared to those without MH. The results suggest that MMEJ could destabilize genomes by triggering structural alterations and increasing mutation burden.

摘要

DNA双链断裂(DSB)侧翼的微同源性(MH)驱动染色体重排,但其在诱变中的作用尚未得到分析。在这里,我们确定了位于DSB远端多个位置的URA3报告基因的突变频率,该DSB两侧有不同大小(15、18或203碱基对)的直接重复序列,以便在芽殖酵母中进行有效修复。DSB的诱导会在位于15碱基对MH远端达14千碱基处的报告基因中积累突变,但对携带18和203碱基对或无同源性的报告基因的影响较小。MH介导的末端连接(MMEJ)中诱变的增加似乎与其较慢的修复动力学以及侧翼DNA发生的广泛切除有关。与没有MH的情况相比,通过MMEJ的染色体易位也会提高断点连接远端7.1千碱基处侧翼DNA序列的诱变率。结果表明,MMEJ可能通过触发结构改变和增加突变负担而使基因组不稳定。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93b6/5413072/0e4fd14f9a83/pgen.1006714.g001.jpg

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