Hastings P J, Slack Andrew, Petrosino Joseph F, Rosenberg Susan M
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
PLoS Biol. 2004 Dec;2(12):e399. doi: 10.1371/journal.pbio.0020399. Epub 2004 Nov 23.
"Adaptive mutation" denotes a collection of processes in which cells respond to growth-limiting environments by producing compensatory mutants that grow well, apparently violating fundamental principles of evolution. In a well-studied model, starvation of stationary-phase lac(-)Escherichia coli cells on lactose medium induces Lac(+)revertants at higher frequencies than predicted by usual mutation models. These revertants carry either a compensatory frameshift mutation or a greater than 20-fold amplification of the leaky lac allele. A crucial distinction between alternative hypotheses for the mechanisms of adaptive mutation hinges on whether these amplification and frameshift mutation events are distinct, or whether amplification is a molecular intermediate, producing an intermediate cell type, in colonies on a pathway to frameshift mutation. The latter model allows the evolutionarily conservative idea of increased mutations (per cell) without increased mutation rate (by virtue of extra gene copies per cell), whereas the former requires an increase in mutation rate, potentially accelerating evolution. To resolve these models, we probed early events leading to rare adaptive mutations and report several results that show that amplification is not the precursor to frameshift mutation but rather is an independent adaptive outcome. (i) Using new high-resolution selection methods and stringent analysis of all cells in very young (micro)colonies (500-10,000 cells), we find that most mutant colonies contain no detectable lac-amplified cells, in contrast with previous reports. (ii) Analysis of nascent colonies, as young as the two-cell stage, revealed mutant Lac(+)cells with no lac-amplified cells present. (iii) Stringent colony-fate experiments show that microcolonies of lac-amplified cells grow to form visible colonies of lac-amplified, not mutant, cells. (iv) Mutant cells do not overgrow lac-amplified cells in microcolonies fast enough to mask the lac-amplified cells. (v)lac-amplified cells are not SOS-induced, as was proposed to explain elevated mutation in a sequential model. (vi) Amplification, and not frameshift mutation, requires DNA polymerase I, demonstrating that mutation is separable from amplification, and also illuminating the amplification mechanism. We conclude that amplification and mutation are independent outcomes of adaptive genetic change. We suggest that the availability of alternative pathways for genetic/evolutionary adaptation and clonal expansion under stress may be exploited during processes ranging from the evolution of drug resistance to cancer progression.
“适应性突变”指的是一系列细胞过程,在这些过程中,细胞通过产生生长良好的补偿性突变体来应对生长受限的环境,这显然违背了进化的基本原理。在一个经过充分研究的模型中,处于稳定期的乳糖操纵子缺陷型大肠杆菌细胞在乳糖培养基上饥饿培养时,诱导产生乳糖操纵子野生型回复突变体的频率高于常规突变模型的预测。这些回复突变体要么携带一个补偿性移码突变,要么携带渗漏型乳糖操纵子等位基因超过20倍的扩增。关于适应性突变机制的不同假说之间的一个关键区别在于,这些扩增和移码突变事件是不同的,还是扩增是一种分子中间体,在通向移码突变的途径中产生一种中间细胞类型,进而形成菌落。后一种模型允许(从进化保守的角度)认为(每个细胞)突变增加而突变率不增加(因为每个细胞有额外的基因拷贝),而前一种模型则需要突变率增加,这可能会加速进化。为了解决这些模型,我们探究了导致罕见适应性突变的早期事件,并报告了几个结果,这些结果表明扩增不是移码突变的前体,而是一个独立的适应性结果。(i)使用新的高分辨率筛选方法,并对非常年轻的(微小)菌落(500 - 10000个细胞)中的所有细胞进行严格分析,我们发现与之前的报告相反,大多数突变菌落中没有可检测到的乳糖操纵子扩增细胞。(ii)对新生菌落(早至双细胞阶段)的分析表明,存在没有乳糖操纵子扩增细胞的突变型乳糖操纵子野生型细胞。(iii)严格的菌落命运实验表明,乳糖操纵子扩增细胞的微小菌落生长形成的是乳糖操纵子扩增细胞而非突变细胞的可见菌落。(iv)在微小菌落中,突变细胞不会以足够快的速度超过乳糖操纵子扩增细胞从而掩盖乳糖操纵子扩增细胞。(v)乳糖操纵子扩增细胞不是由SOS诱导的,而在一个顺序模型中曾提出SOS诱导来解释突变率升高。(vi)扩增而非移码突变需要DNA聚合酶I,这表明突变与扩增是可分离的,同时也阐明了扩增机制。我们得出结论,扩增和突变是适应性遗传变化的独立结果。我们认为,在从耐药性进化到癌症进展等过程中,可能会利用应激条件下遗传/进化适应和克隆扩增的替代途径。