Slack Andrew, Thornton P C, Magner Daniel B, Rosenberg Susan M, Hastings P J
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
PLoS Genet. 2006 Apr;2(4):e48. doi: 10.1371/journal.pgen.0020048. Epub 2006 Apr 7.
Gene amplification is a collection of processes whereby a DNA segment is reiterated to multiple copies per genome. It is important in carcinogenesis and resistance to chemotherapeutic agents, and can underlie adaptive evolution via increased expression of an amplified gene, evolution of new gene functions, and genome evolution. Though first described in the model organism Escherichia coli in the early 1960s, only scant information on the mechanism(s) of amplification in this system has been obtained, and many models for mechanism(s) were possible. More recently, some gene amplifications in E. coli were shown to be stress-inducible and to confer a selective advantage to cells under stress (adaptive amplifications), potentially accelerating evolution specifically when cells are poorly adapted to their environment. We focus on stress-induced amplification in E. coli and report several findings that indicate a novel molecular mechanism, and we suggest that most amplifications might be stress-induced, not spontaneous. First, as often hypothesized, but not shown previously, certain proteins used for DNA double-strand-break repair and homologous recombination are required for amplification. Second, in contrast with previous models in which homologous recombination between repeated sequences caused duplications that lead to amplification, the amplified DNAs are present in situ as tandem, direct repeats of 7-32 kilobases bordered by only 4 to 15 base pairs of G-rich homology, indicating an initial non-homologous recombination event. Sequences at the rearrangement junctions suggest nonhomologous recombination mechanisms that occur via template switching during DNA replication, but unlike previously described template switching events, these must occur over long distances. Third, we provide evidence that 3'-single-strand DNA ends are intermediates in the process, supporting a template-switching mechanism. Fourth, we provide evidence that lagging-strand templates are involved. Finally, we propose a novel, long-distance template-switching model for the mechanism of adaptive amplification that suggests how stress induces the amplifications. We outline its possible applicability to amplification in humans and other organisms and circumstances.
基因扩增是一系列过程,通过这些过程,一个DNA片段在每个基因组中被重复为多个拷贝。它在致癌作用和对化疗药物的抗性中很重要,并且可以通过扩增基因的表达增加、新基因功能的进化和基因组进化成为适应性进化的基础。尽管在20世纪60年代初在模式生物大肠杆菌中首次被描述,但在这个系统中关于扩增机制的信息很少,并且有许多可能的机制模型。最近,大肠杆菌中的一些基因扩增被证明是应激诱导的,并在应激条件下赋予细胞选择性优势(适应性扩增),特别是当细胞对其环境适应不良时,可能会加速进化。我们专注于大肠杆菌中的应激诱导扩增,并报告了几个表明一种新分子机制的发现,并且我们认为大多数扩增可能是应激诱导的,而不是自发的。首先,正如经常假设但先前未被证明的那样,某些用于DNA双链断裂修复和同源重组的蛋白质是扩增所必需的。其次,与先前的模型不同,在先前的模型中重复序列之间的同源重组导致导致扩增的重复,扩增的DNA以串联形式原位存在,是7 - 32千碱基的直接重复,仅由4至15个富含G的同源碱基对界定,表明最初是非同源重组事件。重排连接处的序列表明在DNA复制过程中通过模板切换发生的非同源重组机制,但与先前描述的模板切换事件不同,这些必须在长距离上发生。第三,我们提供证据表明3'-单链DNA末端是该过程中的中间体,支持模板切换机制。第四,我们提供证据表明滞后链模板参与其中。最后,我们提出了一种新颖的、长距离模板切换模型用于适应性扩增机制,该模型表明应激如何诱导扩增。我们概述了其在人类和其他生物体及情况下扩增的可能适用性。