Nanopore sequencing of complex genomic rearrangements in yeast reveals mechanisms of repeat-mediated double-strand break repair.
Nanopore sequencing of complex genomic rearrangements in yeast reveals mechanisms of repeat-mediated double-strand break repair.
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DOI：
10.1101/gr.228148.117
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发表时间：
2017-12
期刊：
影响因子：
7
通讯作者：
Mirkin SM
中科院分区：
文献类型：
--
作者：
McGinty RJ;Rubinstein RG;Neil AJ;Dominska M;Kiktev D;Petes TD;Mirkin SM
不正确的 DNA 双链断裂 (DSB) 修复会导致人类许多癌症和各种先天性疾病中复杂的基因组重排 (CGR)。三核苷酸重复序列，例如弗里德赖希共济失调中的 (GAA)n 重复序列、强直性肌营养不良中的 (CTG)n 重复序列和脆性 X 综合征中的 (CGG)n 重复序列，也会在重复束内发生双链断裂，然后进行 DNA 修复。绘制 CGR 的结果对于理解其原因和潜在的表型效应非常重要。然而，CGR 的高分辨率绘图传统上是一个费力且需要高技能的过程。长读长 DNA 测序技术（特别是纳米孔测序）的最新进展使得以单碱基对分辨率快速识别 CGR 成为可能。在这里，我们使用全基因组纳米孔测序来表征源自酿酒酵母 (GAA)n 微卫星上天然存在的 DSB 的几个 CGR。这些数据让我们对 DSB 修复导致 CGR 的机制有了重要的了解。
Improper DNA double-strand break (DSB) repair results in complex genomic rearrangements (CGRs) in many cancers and various congenital disorders in humans. Trinucleotide repeat sequences, such as (GAA)n repeats in Friedreich's ataxia, (CTG)n repeats in myotonic dystrophy, and (CGG)n repeats in fragile X syndrome, are also subject to double-strand breaks within the repetitive tract followed by DNA repair. Mapping the outcomes of CGRs is important for understanding their causes and potential phenotypic effects. However, high-resolution mapping of CGRs has traditionally been a laborious and highly skilled process. Recent advances in long-read DNA sequencing technologies, specifically Nanopore sequencing, have made possible the rapid identification of CGRs with single base pair resolution. Here, we have used whole-genome Nanopore sequencing to characterize several CGRs that originated from naturally occurring DSBs at (GAA)n microsatellites in Saccharomyces cerevisiae. These data gave us important insights into the mechanisms of DSB repair leading to CGRs.
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影响因子：
3.6
作者：
Norris AL;Workman RE;Fan Y;Eshleman JR;Timp W
通讯作者：
Timp W
DOI：
10.1002/bies.201700077
发表时间：
2017-09
期刊：
BioEssays : news and reviews in molecular, cellular and developmental biology
影响因子：
--
作者：
Neil AJ;Kim JC;Mirkin SM
通讯作者：
Mirkin SM
影响因子：
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作者：
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通讯作者：
Panaud O
影响因子：
30.8
作者：
Iafrate, AJ;Feuk, L;Lee, C
通讯作者：
Lee, C
影响因子：
14.9
作者：
Bacolla A;Tainer JA;Vasquez KM;Cooper DN
通讯作者：
Cooper DN