Department of Immunology and Microbiology, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou, China.
MOE Key Laboratory of Gene Function and Regulation, State Key Laboratory of Biocontrol, Innovation Center for Evolutionary Synthetic Biology, School of Life Sciences, Sun Yat-sen University, Guangzhou, China.
Mol Biol Evol. 2024 Sep 4;41(9). doi: 10.1093/molbev/msae189.
Pleiotropy, the phenomenon in which a single gene influences multiple traits, is a fundamental concept in genetics. However, the evolutionary mechanisms underlying pleiotropy require further investigation. In this study, we conducted parallel gene knockouts targeting 100 transcription factors in 2 strains of Saccharomyces cerevisiae. We systematically examined and quantified the pleiotropic effects of these knockouts on gene expression levels for each transcription factor. Our results showed that the knockout of a single gene generally affected the expression levels of multiple genes in both strains, indicating various degrees of pleiotropic effects. Strikingly, the pleiotropic effects of the knockouts change rapidly between strains in different genetic backgrounds, and ∼85% of them were nonconserved. Further analysis revealed that the conserved effects tended to be functionally associated with the deleted transcription factors, while the nonconserved effects appeared to be more ad hoc responses. In addition, we measured 184 yeast cell morphological traits in these knockouts and found consistent patterns. In order to investigate the evolutionary processes underlying pleiotropy, we examined the pleiotropic effects of standing genetic variations in a population consisting of ∼1,000 hybrid progenies of the 2 strains. We observed that newly evolved expression quantitative trait loci impacted the expression of a greater number of genes than did old expression quantitative trait loci, suggesting that natural selection is gradually eliminating maladaptive or slightly deleterious pleiotropic responses. Overall, our results show that, although being prevalent for new mutations, the majority of pleiotropic effects observed are evolutionarily transient, which explains how evolution proceeds despite complicated pleiotropic effects.
多效性是指单个基因影响多个性状的现象,是遗传学的一个基本概念。然而,多效性的进化机制需要进一步研究。在这项研究中,我们针对酿酒酵母的 2 个菌株中的 100 个转录因子进行了平行的基因敲除。我们系统地检查和量化了这些敲除对每个转录因子的基因表达水平的多效性影响。我们的结果表明,单个基因的敲除通常会影响两个菌株中多个基因的表达水平,表明存在不同程度的多效性影响。引人注目的是,敲除在不同遗传背景的菌株之间的多效性影响迅速变化,其中约 85%是非保守的。进一步的分析表明,保守的影响往往与被删除的转录因子功能相关,而非保守的影响似乎是更特别的反应。此外,我们在这些敲除中测量了 184 个酵母细胞形态特征,并发现了一致的模式。为了研究多效性的进化过程,我们在由这 2 个菌株的约 1000 个杂交后代组成的群体中检查了遗传变异的多效性影响。我们观察到,新进化的表达数量性状位点比旧的表达数量性状位点影响更多的基因表达,这表明自然选择正在逐渐消除适应不良或轻微有害的多效性反应。总的来说,我们的结果表明,尽管新突变普遍存在,但观察到的大多数多效性影响在进化上是短暂的,这解释了尽管存在复杂的多效性影响,但进化是如何进行的。