Langmüller Anna M, Haller Benjamin C, Nolte Viola, Schlötterer Christian
Vienna Graduate School of Population Genetics, Vetmeduni Vienna, Veterinärplatz 1, Vienna, 1210, Austria.
Institut Für Populationsgenetik, Vetmeduni Vienna, Veterinärplatz 1, Vienna, 1210, Austria.
Genome Biol. 2025 Jul 24;26(1):221. doi: 10.1186/s13059-025-03688-2.
Transposable elements (TEs) are DNA sequences that can move within a host genome. Many new TE insertions have deleterious effects on their host and are therefore removed by purifying selection. The genomic distribution of TEs thus reflects a balance between new insertions and purifying selection. However, the inference of purifying selection against deleterious TE insertions from the patterns observed in natural populations is challenged by the confounding effects of demographic events, such as population bottlenecks and migration.
We use experimental evolution to study the role of purifying selection during the invasion of the P-element, a highly invasive TE, in replicated Drosophila simulans populations under controlled laboratory conditions. Because the change in P-element copy number over time provides information about the transposition rate and the effect of purifying selection, we repeatedly sequence the experimental populations to study the P-element invasion dynamics. Based on the empirical data, we use Gaussian process surrogate models to efficiently explore the parameter space and identify parameter combinations that best reproduce the experimental P-element invasion trajectories. Assuming that beneficial P-element insertions are negligible, and that transposition regulation is well-approximated by our simulation framework, we estimate that, in our experimental populations, 73% (60.9-76.1%) of new P-element insertions are under purifying selection with a mean selection coefficient of - 0.056 (- 0.060 to - 0.042), highlighting the central role of selection in shaping P-element invasion dynamics.
This study underscores the power of experimental evolution as a tool for studying transposable element invasions and highlights the pivotal role of purifying selection in regulating P-element dynamics.
转座元件(TEs)是能够在宿主基因组内移动的DNA序列。许多新的TE插入对其宿主具有有害影响,因此会通过纯化选择被去除。TEs的基因组分布因此反映了新插入与纯化选择之间的平衡。然而,从自然种群中观察到的模式推断针对有害TE插入的纯化选择受到人口统计学事件(如种群瓶颈和迁移)的混杂影响的挑战。
我们利用实验进化来研究纯化选择在P元件(一种高度侵入性的TE)侵入过程中的作用,该过程在受控实验室条件下在多个复制的拟果蝇种群中进行。由于P元件拷贝数随时间的变化提供了有关转座率和纯化选择效果的信息,我们对实验种群进行反复测序以研究P元件的侵入动态。基于实证数据,我们使用高斯过程替代模型来有效探索参数空间,并识别最能重现实验性P元件侵入轨迹的参数组合。假设有益的P元件插入可忽略不计,并且我们的模拟框架能很好地近似转座调控,我们估计,在我们的实验种群中,73%(60.9 - 76.1%)的新P元件插入受到纯化选择,平均选择系数为 -0.056(-0.060至 -0.042),突出了选择在塑造P元件侵入动态中的核心作用。
本研究强调了实验进化作为研究转座元件侵入的工具的强大作用,并突出了纯化选择在调节P元件动态中的关键作用。