Department of Microbiology, College of Biological Sciences, University of California, Davis, California 95616, USA.
Genetics. 2010 Apr;184(4):1077-94. doi: 10.1534/genetics.109.111963. Epub 2010 Jan 18.
Tandem duplications are among the most common mutation events. The high loss rate of duplication suggested that the frequency of duplications in a bacterial population (1/1000) might reflect a steady state dictated by relative rates of formation (k(F)) and loss (k(L)). This possibility was tested for three genetic loci. Without homologous recombination (RecA), duplication loss rate dropped essentially to zero, but formation rate decreased only slightly and a steady state was still reached rapidly. Under all conditions, steady state was reached faster than predicted by formation and loss rates alone. A major factor in determining steady state proved to be the fitness cost, which can exceed 40% for some genomic regions. Depending on the region tested, duplications reached 40-98% of the steady-state frequency within 30 generations-approximately the growth required for a single cell to produce a saturated overnight culture or form a large colony on solid medium (10(9) cells). Long-term bacterial populations are stably polymorphic for duplications of every region of their genome. These polymorphisms contribute to rapid genetic adaptation by providing frequent preexisting mutations that are beneficial whenever imposed selection favors increases in some gene activity. While the reported results were obtained with the bacterium Salmonella enterica, the genetic implications seem likely to be of broader biological relevance.
串联重复是最常见的突变事件之一。高的重复丢失率表明,细菌群体中的重复频率(1/1000)可能反映了由形成(k(F))和丢失(k(L))相对速率决定的稳定状态。这种可能性在三个遗传位点进行了测试。没有同源重组(RecA)时,重复丢失率实际上降至零,但形成率仅略有下降,仍迅速达到稳定状态。在所有条件下,稳定状态的达到速度都比仅由形成和丢失率预测的要快。决定稳定状态的一个主要因素是适应性成本,对于某些基因组区域,适应性成本可能超过 40%。根据测试的区域,重复在 30 代内达到稳定状态频率的 40-98%——大约是单个细胞产生饱和过夜培养物或在固体培养基上形成大菌落(10(9)个细胞)所需的生长时间。长期的细菌种群在其基因组的每个区域的重复都是稳定的多态性。这些多态性通过提供频繁的预先存在的突变来促进快速的遗传适应,只要选择有利于某些基因活性的增加,这些突变就是有益的。虽然报告的结果是在细菌沙门氏菌中获得的,但遗传影响似乎很可能具有更广泛的生物学相关性。