Departamento de Zoologia, Universidade Federal de Juiz de Fora, Brazil.
Department of Bioinformatics and Genomics, University of North Carolina, Charlotte.
Genome Biol Evol. 2018 Mar 1;10(3):723-730. doi: 10.1093/gbe/evy027.
Mutations contribute to genetic variation in all living systems. Thus, precise estimates of mutation rates and spectra across a diversity of organisms are required for a full comprehension of evolution. Here, a mutation-accumulation (MA) assay was carried out on the endosymbiotic bacterium Teredinibacter turnerae. After ∼3,025 generations, base-pair substitutions (BPSs) and insertion-deletion (indel) events were characterized by whole-genome sequencing analysis of 47 independent MA lines, yielding a BPS rate of 1.14 × 10-9 per site per generation and indel rate of 1.55 × 10-10 events per site per generation, which are among the highest within free-living and facultative intracellular bacteria. As in other endosymbionts, a significant bias of BPSs toward A/T and an excess of deletion mutations over insertion mutations are observed for these MA lines. However, even with a deletion bias, the genome remains relatively large (∼5.2 Mb) for an endosymbiotic bacterium. The estimate of the effective population size (Ne) in T. turnerae is quite high and comparable to free-living bacteria (∼4.5 × 107), suggesting that the heavy bottlenecking associated with many endosymbiotic relationships is not prevalent during the life of this endosymbiont. The efficiency of selection scales with increasing Ne and such strong selection may have been operating against the deletion bias, preventing genome erosion. The observed mutation rate in this endosymbiont is of the same order of magnitude of those with similar Ne, consistent with the idea that population size is a primary determinant of mutation-rate evolution within endosymbionts, and that not all endosymbionts have low Ne.
突变导致所有生命系统的遗传变异。因此,为了全面理解进化,需要对各种生物的突变率和突变谱进行精确估计。在这里,对内共生细菌 Teredinibacter turnerae 进行了突变积累(MA)测定。在大约 3025 代后,通过对 47 条独立 MA 系的全基因组测序分析,对碱基对替换(BPS)和插入-缺失(indel)事件进行了特征描述,得到 BPS 率为每个位点每代 1.14×10-9,indel 率为每个位点每代 1.55×10-10,这在自由生活和兼性细胞内细菌中属于最高水平。与其他内共生体一样,这些 MA 系中观察到 BPS 向 A/T 的显著偏向以及缺失突变多于插入突变的过剩。然而,即使存在缺失偏向,基因组对于内共生细菌而言仍然相对较大(约 5.2 Mb)。T. turnerae 的有效种群大小(Ne)估计值相当高,与自由生活的细菌相当(约 4.5×107),这表明与许多内共生关系相关的严重瓶颈并不普遍存在于这种内共生体的生命周期中。选择的效率与 Ne 的增加成正比,如此强烈的选择可能一直在对抗缺失偏向,防止基因组侵蚀。该内共生体中观察到的突变率与具有相似 Ne 的那些内共生体的突变率处于同一数量级,这与种群大小是内共生体中突变率进化的主要决定因素的观点一致,并非所有内共生体的 Ne 都低。