Department of Microbiology and Immunology, McGill University, Montréal, Québec, Canada.
Mol Biol Evol. 2021 Mar 9;38(3):1075-1089. doi: 10.1093/molbev/msaa275.
Group II introns are large self-splicing RNA enzymes with a broad but somewhat irregular phylogenetic distribution. These ancient retromobile elements are the proposed ancestors of approximately half the human genome, including the abundant spliceosomal introns and non-long terminal repeat retrotransposons. In contrast to their eukaryotic derivatives, bacterial group II introns have largely been considered as harmful selfish mobile retroelements that parasitize the genome of their host. As a challenge to this view, we recently uncovered a new intergenic trans-splicing pathway that generates an assortment of mRNA chimeras. The ability of group II introns to combine disparate mRNA fragments was proposed to increase the genetic diversity of the bacterial host by shuffling coding sequences. Here, we show that the Ll.LtrB and Ef.PcfG group II introns from Lactococcus lactis and Enterococcus faecalis respectively can both use the intergenic trans-splicing pathway to catalyze the formation of chimeric relaxase mRNAs and functional proteins. We demonstrated that some of these compound relaxase enzymes yield gain-of-function phenotypes, being significantly more efficient than their precursor wild-type enzymes at supporting bacterial conjugation. We also found that relaxase enzymes with shuffled functional domains are produced in biologically relevant settings under natural expression levels. Finally, we uncovered examples of lactococcal chimeric relaxase genes with junctions exactly at the intron insertion site. Overall, our work demonstrates that the genetic diversity generated by group II introns, at the RNA level by intergenic trans-splicing and at the DNA level by recombination, can yield new functional enzymes with shuffled exons, which can lead to gain-of-function phenotypes.
内含子 II 是具有广泛但有些不规则的系统发育分布的大型自我剪接 RNA 酶。这些古老的反转录移动元件是大约一半人类基因组的提议祖先,包括丰富的剪接体内含子和非长末端重复反转录转座子。与它们的真核衍生物不同,细菌内含子 II 主要被认为是寄生在其宿主基因组中的有害自私的移动反转元件。作为对这种观点的挑战,我们最近发现了一种新的基因间转剪接途径,该途径产生了一系列 mRNA 嵌合体。内含子 II 将不同的 mRNA 片段组合在一起的能力被提议通过打乱编码序列来增加细菌宿主的遗传多样性。在这里,我们表明来自乳球菌和粪肠球菌的 Ll.LtrB 和 Ef.PcfG 内含子 II 都可以利用基因间转剪接途径催化嵌合松弛酶 mRNA 和功能性蛋白质的形成。我们证明,这些复合松弛酶中的一些产生功能获得表型,在支持细菌接合方面比其前体野生型酶显著更有效。我们还发现,在自然表达水平下,在生物相关环境中会产生具有随机功能域的松弛酶。最后,我们发现了乳球菌嵌合松弛酶基因的例子,其连接处正好在内含子插入位点。总的来说,我们的工作表明,内含子 II 在 RNA 水平上通过基因间转剪接和在 DNA 水平上通过重组产生的遗传多样性,可以产生具有随机外显子的新功能酶,从而导致功能获得表型。