Michigan Center for Translational Pathology, University of Michigan Medical School, Ann Arbor, 48109, USA.
Nat Rev Genet. 2010 Dec;11(12):819-29. doi: 10.1038/nrg2883. Epub 2010 Nov 3.
Genomic rearrangements are associated with many human genomic disorders, including cancers. It was previously thought that most genomic rearrangements formed randomly but emerging data suggest that many are nonrandom, cell type-, cell stage- and locus-specific events. Recent studies have revealed novel cellular mechanisms and environmental cues that influence genomic rearrangements. In this Review, we consider the multitude of influences on genomic rearrangements by grouping these influences into four categories: proximity of chromosomal regions in the nucleus, cellular stress, inappropriate DNA repair or recombination, and DNA sequence and chromatin features. The synergy of these triggers can poise a cell for rearrangements and here we aim to provide a conceptual framework for understanding the genesis of genomic rearrangements.
基因组重排与许多人类基因组疾病有关，包括癌症。以前人们认为大多数基因组重排是随机形成的，但新出现的数据表明，许多重排是非随机的，与细胞类型、细胞阶段和基因座特异性有关。最近的研究揭示了影响基因组重排的新的细胞机制和环境线索。在这篇综述中，我们通过将这些影响分为四类来考虑影响基因组重排的多种因素：核内染色体区域的接近程度、细胞应激、不合适的 DNA 修复或重组以及 DNA 序列和染色质特征。这些触发因素的协同作用可以使细胞发生重排，我们旨在为理解基因组重排的发生提供一个概念框架。
