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. 2022 Apr;90(2):149-165. doi: 10.1007/s00239-022-10048-2. Epub 2022 Feb 14.
TOPIIA topoisomerases are required for the regulation of DNA topology by DNA cleavage and re-ligation and are important targets of antibiotic and anticancer agents. Humans possess two TOPIIA paralogue genes (TOP2A and TOP2B) with high sequence and structural similarity but distinct cellular functions. Despite their functional and clinical relevance, the evolutionary history of TOPIIA is still poorly understood. Here we show that TOPIIA is highly conserved in Metazoa. We also found that TOPIIA paralogues from jawed and jawless vertebrates had different origins related with tetraploidization events. After duplication, TOP2B evolved under a stronger purifying selection than TOP2A, perhaps promoted by the more specialized role of TOP2B in postmitotic cells. We also detected genetic signatures of positive selection in the highly variable C-terminal domain (CTD), possibly associated with adaptation to cellular interactions. By comparing TOPIIA from modern and archaic humans, we found two amino acid substitutions in the TOP2A CTD, suggesting that TOP2A may have contributed to the evolution of present-day humans, as proposed for other cell cycle-related genes. Finally, we identified six residues conferring resistance to chemotherapy differing between TOP2A and TOP2B. These six residues could be targets for the development of TOP2A-specific inhibitors that would avoid the side effects caused by inhibiting TOP2B. Altogether, our findings clarify the origin, diversification and selection pressures governing the evolution of animal TOPIIA.
TOPIIA 拓扑异构酶对于 DNA 切割和重连调控 DNA 拓扑结构是必需的,也是抗生素和抗癌药物的重要靶点。人类拥有两个高度相似的 TOPIIA 基因(TOP2A 和 TOP2B),它们具有相似的序列和结构,但具有不同的细胞功能。尽管它们具有功能和临床相关性,但 TOPIIA 的进化历史仍知之甚少。在这里,我们表明 TOPIIA 在后生动物中高度保守。我们还发现,有颌和无颌脊椎动物的 TOPIIA 基因在与四倍体化事件相关的起源上有所不同。复制后,TOP2B 比 TOP2A 受到更强的纯化选择,这可能是 TOP2B 在有丝分裂后细胞中更特殊的作用所促进的。我们还在高度可变的 C 末端结构域(CTD)中检测到正选择的遗传特征,这可能与细胞相互作用的适应有关。通过比较现代人和古人类的 TOPIIA,我们发现 TOP2A 的 CTD 中有两个氨基酸取代,这表明 TOP2A 可能为现代人的进化做出了贡献,正如其他与细胞周期相关的基因所提出的那样。最后,我们确定了 TOP2A 和 TOP2B 之间存在 6 个赋予化疗耐药性的残基。这 6 个残基可能是开发 TOP2A 特异性抑制剂的靶点,从而避免抑制 TOP2B 引起的副作用。总之,我们的研究结果阐明了调控动物 TOPIIA 进化的起源、多样化和选择压力。