Durkin Sylvia M, Nachman Michael W
Museum of Vertebrate Zoology and Department of Integrative Biology, University of California, Berkeley, Berkeley, CA, United States.
Evolution. 2025 Apr 2;79(4):499-509. doi: 10.1093/evolut/qpaf014.
Changes in gene expression underlie much of evolution and occur via either cis-acting mutations, which lie near the affected gene and act in a context-specific manner, or trans-acting mutations, which may be far from the affected gene and act through diffusible molecules such as transcription factors. A commonly held view is that most expression variation within species is controlled in trans- while expression differences between species are largely controlled in cis-. Here, we summarize recent intraspecific gene regulation studies and find, contrary to this widely held view, that many studies in diverse taxa have revealed a large role for cis-acting mutations underlying expression variation within species. A review of the existing literature also shows that preparations using whole organisms rather than individual tissues may be biased toward identifying trans-regulation. Moreover, we note several examples of predominantly cis-acting regulation in recently diverged populations adapted to different environments. We highlight the challenges of drawing general conclusions from comparisons among studies that use different methodologies and we offer suggestions for studies that will address outstanding questions concerning the evolution of gene regulation.
基因表达的变化是进化的重要基础,其发生途径包括顺式作用突变(位于受影响基因附近,以特定于上下文的方式起作用)或反式作用突变(可能远离受影响基因,并通过转录因子等可扩散分子起作用)。一种普遍的观点是,物种内的大多数表达变异是由反式调控的,而物种间的表达差异在很大程度上是由顺式调控的。在这里,我们总结了最近的种内基因调控研究,发现与这种普遍观点相反,许多针对不同分类群的研究表明,顺式作用突变在物种内表达变异中起着重要作用。对现有文献的综述还表明,使用整个生物体而非单个组织的实验可能倾向于识别反式调控。此外,我们注意到在适应不同环境的最近分化种群中,主要是顺式作用调控的几个例子。我们强调了从使用不同方法的研究比较中得出一般性结论的挑战,并为解决有关基因调控进化的悬而未决问题的研究提供了建议。