Interdisciplinary Centre of Marine and Environmental Research (CIIMAR), University of Porto, Terminal de Cruzeiros do Porto de Leixões, Av. General Norton de Matos S/N 4450-208, Matosinhos, Portugal.
ICBAS - Instituto de Ciências Biomédicas de Abel Salazar, Universidade do Porto, Rua Jorge de Viterbo Ferreira 228, 4050-313, Porto, Portugal.
J Mol Evol. 2023 Apr;91(2):192-203. doi: 10.1007/s00239-022-10091-z. Epub 2023 Jan 18.
Type IB topoisomerases relax the torsional stress associated with DNA metabolism in the nucleus and mitochondria and constitute important molecular targets of anticancer drugs. Vertebrates stand out among eukaryotes by having two Type IB topoisomerases acting specifically in the nucleus (TOP1) and mitochondria (TOP1MT). Despite their major importance, the origin and evolution of these paralogues remain unknown. Here, we examine the molecular evolutionary processes acting on both TOP1 and TOP1MT in Chordata, taking advantage of the increasing number of available genome sequences. We found that both TOP1 and TOP1MT evolved under strong purifying selection, as expected considering their essential biological functions. Critical active sites, including those associated with resistance to anticancer agents, were found particularly conserved. However, TOP1MT presented a higher rate of molecular evolution than TOP1, possibly related with its specialized activity on the mitochondrial genome and a less critical role in cells. We could place the duplication event that originated the TOP1 and TOP1MT paralogues early in the radiation of vertebrates, most likely associated with the first round of vertebrate tetraploidization (1R). Moreover, our data suggest that cyclostomes present a specialized mitochondrial Type IB topoisomerase. Interestingly, we identified two missense mutations replacing amino acids in the Linker region of TOP1MT in Neanderthals, which appears as a rare event when comparing the genome of both species. In conclusion, TOP1 and TOP1MT differ in their rates of evolution, and their evolutionary histories allowed us to better understand the evolution of chordates.
I 型拓扑异构酶在核和线粒体中缓解与 DNA 代谢相关的扭转应力,是抗癌药物的重要分子靶点。脊椎动物在真核生物中脱颖而出,因为它们有两种特定作用于核(TOP1)和线粒体(TOP1MT)的 I 型拓扑异构酶。尽管它们非常重要,但这些同源物的起源和进化仍然未知。在这里,我们利用越来越多的可用基因组序列,研究了 Chordata 中两种 TOP1 和 TOP1MT 的分子进化过程。我们发现,TOP1 和 TOP1MT 都受到强烈的纯化选择作用,这与它们的基本生物学功能相符。包括与抗癌药物耐药性相关的关键活性位点在内,都发现特别保守。然而,TOP1MT 的分子进化率高于 TOP1,这可能与其在线粒体基因组上的特殊活性以及在细胞中不太关键的作用有关。我们可以将产生 TOP1 和 TOP1MT 同源物的复制事件置于脊椎动物辐射的早期,很可能与脊椎动物第一轮四倍体化(1R)有关。此外,我们的数据表明,圆口动物具有特殊的线粒体 I 型拓扑异构酶。有趣的是,我们在尼安德特人中发现了两个错义突变,取代了 TOP1MT 连接区的氨基酸,与两种物种的基因组相比,这似乎是一个罕见的事件。总之,TOP1 和 TOP1MT 在进化速度上存在差异,它们的进化历史使我们能够更好地了解脊索动物的进化。