Department of Evolutionary Biology and Environmental Studies, University of Zurich, Zurich, CH-8057, Switzerland.
The Santa Fe Institute, Santa Fe, NM 87501, USA.
Genetics. 2021 Mar 31;217(3). doi: 10.1093/genetics/iyaa044.
Because gene expression is important for evolutionary adaptation, its misregulation is an important cause of maladaptation. A misregulated gene can be incorrectly silent ("off") when a transcription factor (TF) that is required for its activation does not binds its regulatory region. Conversely, a misregulated gene can be incorrectly active ("on") when a TF not normally involved in its activation binds its regulatory region, a phenomenon also known as regulatory crosstalk. DNA mutations that destroy or create TF binding sites on DNA are an important source of misregulation and crosstalk. Although misregulation reduces fitness in an environment to which an organism is well-adapted, it may become adaptive in a new environment. Here, I derive simple yet general mathematical expressions that delimit the conditions under which misregulation can be adaptive. These expressions depend on the strength of selection against misregulation, on the fraction of DNA sequence space filled with TF binding sites, and on the fraction of genes that must be expressed for optimal adaptation. I then use empirical data from RNA sequencing, protein-binding microarrays, and genome evolution, together with population genetic simulations to ask when these conditions are likely to be met. I show that they can be met under realistic circumstances, but these circumstances may vary among organisms and environments. My analysis provides a framework in which improved theory and data collection can help us demonstrate the role of misregulation in adaptation. It also shows that misregulation, like DNA mutation, is one of life's many imperfections that can help propel Darwinian evolution.
由于基因表达对于进化适应至关重要,因此其调控失常是适应不良的重要原因。当激活所需的转录因子(TF)未能结合其调控区域时,失调的基因可能会错误地处于沉默状态(“关闭”)。相反,当通常不参与其激活的 TF 结合其调控区域时,失调的基因可能会错误地处于活跃状态(“打开”),这种现象也称为调控串扰。破坏或创建 DNA 上 TF 结合位点的 DNA 突变是调控失常和串扰的重要来源。尽管在生物体适应良好的环境中,调控失常会降低适应性,但在新环境中,它可能变得具有适应性。在这里,我推导出了简单而通用的数学表达式,这些表达式限定了调控失常可以具有适应性的条件。这些表达式取决于对调控失常的选择强度、TF 结合位点占据的 DNA 序列空间的比例以及为了最佳适应所需表达的基因比例。然后,我使用来自 RNA 测序、蛋白质结合微阵列和基因组进化的经验数据,以及群体遗传模拟,来询问这些条件何时可能得到满足。我表明,在现实情况下这些条件是可以满足的,但这些情况可能因生物体和环境而异。我的分析为改进理论和数据收集提供了一个框架,这有助于我们证明调控失常在适应中的作用。它还表明,像 DNA 突变一样,调控失常是生命的许多不完美之一,它可以帮助推动达尔文式进化。