Mérel Vincent, Tricou Théo, Burlet Nelly, Haudry Annabelle
Universite Claude Bernard Lyon1, LBBE UMR 5558, CNRS, Villeurbanne, France.
Department of Ecology and Evolution, University of Lausanne, Lausanne, Switzerland.
Mol Biol Evol. 2025 Jun 4;42(6). doi: 10.1093/molbev/msaf111.
Although the mechanisms driving genome size evolution are not yet fully understood, one potentially important factor is the dynamics of the accumulation of transposable elements (TEs). Since most TEs are neutral or slightly deleterious, a negative correlation between the genome size and the efficacy of selection is expected. However, previous empirical studies on closely related species with distinct life history traits (thought to undergo different selective regimes) have yielded inconsistent results. Here, we perform the first large-scale analysis of the effect of genetic drift on the genome size evolution, without any prior assumption on the amount of genetic drift. We reconstructed a phylogeny based on the whole-genome data (2,242 genes) for 77 Drosophilid species to examine correlations between the genome size, TE content, and the efficacy of selection (using dN/dS ratios of non-synonymous to synonymous divergence). Using an integrative approach that controls for shared evolutionary history, we reveal that the genome-wide dN/dS are strongly positively correlated with the genome size and TE content, particularly in GC-poor genes. This study suggests the critical importance of controlling for heterogeneity in the base composition when estimating dN/dS. Furthermore, we emphasize that the lack of evidence for the TE accumulation due to increased genetic drift in several previous studies may be due to a secondary effect of changes in life history traits (i.e. asexuality) on TE dynamics. In conclusion, this work provides evidence for TE proliferation in fly genomes when purifying selection is reduced, shedding new light on the role of TEs and genetic drift in the evolution of genome architecture.
尽管驱动基因组大小进化的机制尚未完全明了,但一个潜在的重要因素是转座元件(TEs)积累的动态变化。由于大多数TEs是中性的或略有有害性的,因此预期基因组大小与选择效率之间存在负相关。然而,先前对具有不同生活史特征(被认为经历不同选择机制)的近缘物种进行的实证研究结果并不一致。在这里,我们首次对遗传漂变对基因组大小进化的影响进行了大规模分析,且对遗传漂变的量没有任何先验假设。我们基于77种果蝇物种的全基因组数据(2242个基因)重建了系统发育树,以检验基因组大小、TE含量与选择效率(使用非同义与同义分歧的dN/dS比率)之间的相关性。通过采用一种控制共享进化历史的综合方法,我们发现全基因组的dN/dS与基因组大小和TE含量呈强烈正相关,尤其是在GC含量低的基因中。这项研究表明在估计dN/dS时控制碱基组成异质性的至关重要性。此外,我们强调,先前一些研究中缺乏因遗传漂变增加导致TE积累的证据,可能是由于生活史特征(即无性生殖)变化对TE动态产生的次级效应。总之,这项工作为纯化选择减弱时果蝇基因组中TE的增殖提供了证据,为TEs和遗传漂变在基因组结构进化中的作用提供了新的见解。