Break-induced replication links microsatellite expansion to complex genome rearrangements.
Break-induced replication links microsatellite expansion to complex genome rearrangements.
复制标题
断裂诱导的复制将微卫星扩展与复杂的基因组重排。
DOI：
10.1002/bies.201700025
复制
发表时间：
2017-08
期刊：
影响因子：
--
通讯作者：
Leffak M
中科院分区：
文献类型：
--
作者：
Leffak M
微卫星DNA重复序列的不稳定性导致至少40种神经退行性疾病。最近，Mirkin及其同事提出了一种新的微卫星扩增机制，该机制基于微卫星诱导的复制停滞和分叉崩溃位点的断裂诱导复制（BIR）。BIR模型旨在解释分裂细胞中CAG/CTG三核苷酸重复序列的单步大扩增。BIR在S.酿酒酵母作为修复断裂的DNA复制叉（单端DSB）和降解的端粒DNA的机制。然而，BIR样DSB修复的结构足迹已在人类基因组不稳定性中得到认可，并与多种发育疾病的病因学相关;因此，Kim等人的论文的意义超出了酵母中的三核苷酸重复扩增和人类神经系统疾病中的微卫星不稳定性。重要的是，对BIR样修复的深入了解可以解释人类癌症中非B型微卫星DNA启动的复杂基因组重排（CGRs）的某些途径。
The instability of microsatellite DNA repeats is responsible for at least forty neurodegenerative diseases. Recently, Mirkin and colleagues presented a novel mechanism for microsatellite expansions based on break-induced replication (BIR) at sites of microsatellite-induced replication stalling and fork collapse. The BIR model aims to explain single-step, large expansions of CAG/CTG trinucleotide repeats in dividing cells. BIR has been characterized extensively in S. cerevisiae as a mechanism to repair broken DNA replication forks (single-ended DSBs) and degraded telomeric DNA. However, the structural footprints of BIR-like DSB repair have been recognized in human genomic instability and tied to the etiology of diverse developmental diseases; thus, the implications of the paper by Kim et al. extend beyond trinucleotide repeat expansion in yeast and microsatellite instability in human neurological disorders. Significantly, insight into BIR-like repair can explain certain pathways of complex genome rearrangements (CGRs) initiated at non-B form microsatellite DNA in human cancers.
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影响因子：
14.9
作者：
Ganai RA;Zhang XP;Heyer WD;Johansson E
通讯作者：
Johansson E
影响因子：
44.1
作者：
通讯作者：
--
影响因子：
14.9
作者：
Gomes-Pereira M;Hilley JD;Morales F;Adam B;James HE;Monckton DG
通讯作者：
Monckton DG
影响因子：
3.5
作者：
Gu, Shen;Yuan, Bo;Lupski, James R.
通讯作者：
Lupski, James R.
DOI：
10.1038/nrg.2015.25
发表时间：
2016-04
期刊：
Nature reviews. Genetics
影响因子：
--
作者：
Carvalho CM;Lupski JR
通讯作者：
Lupski JR