Laboratory of Developmental Dynamics, Graduate School of Life Sciences, Tohoku University, Sendai 980-8577, Japan.
Laboratory of Evolutionary Genomics, Graduate School of Life Sciences, Tohoku University, Sendai 980-8578, Japan.
Genetics. 2024 Jun 5;227(2). doi: 10.1093/genetics/iyae052.
Transposable elements are DNA sequences capable of moving within genomes and significantly influence genomic evolution. The nematode Caenorhabditis inopinata exhibits a much higher transposable element copy number than its sister species, Caenorhabditis elegans. In this study, we identified a novel autonomous transposable element belonging to the hAT superfamily from a spontaneous transposable element-insertion mutant in C. inopinata and named this transposon Ci-hAT1. Further bioinformatic analyses uncovered 3 additional autonomous hAT elements-Ci-hAT2, Ci-hAT3, and Ci-hAT4-along with over 1,000 copies of 2 nonautonomous miniature inverted-repeat transposable elements, mCi-hAT1 and mCi-hAT4, likely derived from Ci-hAT1 and Ci-hAT4 through internal deletion. We tracked at least 3 sequential transpositions of Ci-hAT1 over several years. However, the transposition rates of the other 3 autonomous hAT elements were lower, suggesting varying activity levels. Notably, the distribution patterns of the 2 miniature inverted-repeat transposable element families differed significantly: mCi-hAT1 was primarily located in the chromosome arms, a pattern observed in the transposable elements of other Caenorhabditis species, whereas mCi-hAT4 was more evenly distributed across chromosomes. Additionally, interspecific transcriptome analysis indicated that C. inopinata genes with upstream or intronic these miniature inverted-repeat transposable element insertions tend to be more highly expressed than their orthologous genes in C. elegans. These findings highlight the significant role of de-silenced transposable elements in driving the evolution of genomes and transcriptomes, leading to species-specific genetic diversity.
转座元件是能够在基因组内移动的 DNA 序列,它们对基因组的进化有重要影响。线虫 Caenorhabditis inopinata 的转座元件拷贝数明显高于其姐妹种 C. elegans。在本研究中,我们从 C. inopinata 的自发转座元件插入突变体中鉴定出一个属于 hAT 超家族的新型自主转座元件,并将其命名为 Ci-hAT1。进一步的生物信息学分析揭示了另外 3 个自主 hAT 元件 Ci-hAT2、Ci-hAT3 和 Ci-hAT4,以及超过 1000 个 2 个非自主微型倒置重复转座元件 mCi-hAT1 和 mCi-hAT4 的拷贝,这些元件可能是通过内部缺失从 Ci-hAT1 和 Ci-hAT4 衍生而来的。我们至少追踪了 Ci-hAT1 在几年内的 3 次连续转座。然而,其他 3 个自主 hAT 元件的转座率较低,表明其活性水平不同。值得注意的是,这 2 个微型倒置重复转座元件家族的分布模式存在显著差异:mCi-hAT1 主要位于染色体臂上,这与其他 Caenorhabditis 物种的转座元件相似,而 mCi-hAT4 在染色体上的分布更为均匀。此外,种间转录组分析表明,C. inopinata 基因上游或内含子中有这些微型倒置重复转座元件插入的基因,其表达水平高于其在 C. elegans 中的同源基因。这些发现强调了沉默转座元件在驱动基因组和转录组进化以及导致物种特异性遗传多样性方面的重要作用。