Department of Biochemistry and Microbiology, Ghent University, Belgium.
Department of Plant and Microbial Biology, University of Zurich, Switzerland.
Genome Biol Evol. 2018 Jul 1;10(7):1792-1802. doi: 10.1093/gbe/evy140.
Pseudogenes are a paradigm of neutral evolution and their study has the potential to reveal intrinsic mutational biases. However, this potential is mitigated by the fact that pseudogenes are quickly purged from bacterial genomes. Here, we assembled a large set of pseudogenes from genomes experiencing reductive evolution as well as functional references for which we could establish reliable phylogenetic relationships. Using this unique dataset, we identified 857 independent insertion and deletion mutations and discover a pervasive bias towards deletions, but not insertions, with sizes multiples of 3 nt. We further show that selective constraints for the preservation of gene frame are unlikely to account for the observed mutational bias and propose that a mechanistic bias in alternative end-joining repair, a recombination-independent double strand break DNA repair mechanism, is responsible for the accumulation of 3n deletions.
假基因是中性进化的典范,它们的研究有可能揭示内在的突变偏向。然而,由于假基因在细菌基因组中很快被清除,这一潜力受到了限制。在这里,我们从经历还原进化的基因组中组装了大量的假基因,并为可以建立可靠系统发育关系的功能参考序列组装了大量的假基因。利用这个独特的数据集,我们鉴定了 857 个独立的插入和缺失突变,并发现了一种普遍的偏向,即偏向于 3nt 的倍数的缺失,而不是插入。我们进一步表明,为了保持基因框架而进行的选择压力不太可能解释观察到的突变偏向,并提出在非同源末端连接修复(一种不依赖于重组的双链断裂 DNA 修复机制)中存在一种机制偏向,这可能导致 3n 缺失的积累。