Movilli Andrea, Sushko Svitlana, Rabanal Fernando A, Weigel Detlef
Department of Molecular Biology, Max Planck Institute for Biology Tübingen, 72076, Tübingen, Germany.
Institute for Bioinformatics and Medical Informatics, University of Tübingen, 72076, Tübingen, Germany.
Genome Biol. 2025 Jul 30;26(1):231. doi: 10.1186/s13059-025-03691-7.
Because transposable elements (TEs) can cause heritable genetic changes, past work on TE mobility in Arabidopsis thaliana has mostly focused on new TE insertions in the germline of hypomethylated plants. It is, however, well-known that TEs can also be active in the soma, although the high-confidence detection of somatic events has been challenging.
Here, we leverage the high accuracy of PacBio HiFi long reads to evaluate the somatic mobility of TEs in individuals of an A. thaliana non-reference strain lacking activity of METHYLTRANSFERASE1 (MET1), a major component of the DNA methylation maintenance machinery. Most somatically mobile families coincide with those found in germline studies of hypomethylated genotypes, although the exact TE copies differ. We also discover mobile elements that had been missed by standard TE annotation methods. Somatic TE activity is variable among individual plants, but also within TE families. Finally, our approach points to the possible involvement of alternative transposition as a cause for somatic hypermutability in a region that contains two closely spaced VANDAL21 elements.
Long-read sequencing reveals widespread TE transposition in the soma of A. thaliana hypomethylated mutants. Assessing somatic instead of germline mobilization is a fast and reliable method to investigate different aspects of TE mobility at the single plant level.
由于转座元件(TEs)可导致可遗传的基因变化,过去关于拟南芥中转座元件移动性的研究大多集中在低甲基化植物生殖系中的新TE插入。然而,众所周知,TEs在体细胞中也可能活跃,尽管对体细胞事件进行高可信度检测具有挑战性。
在这里,我们利用PacBio HiFi长读长的高精度来评估缺乏DNA甲基化维持机制的主要成分甲基转移酶1(MET1)活性的拟南芥非参考菌株个体中TEs的体细胞移动性。大多数体细胞可移动家族与低甲基化基因型生殖系研究中发现的家族一致,尽管具体的TE拷贝不同。我们还发现了标准TE注释方法遗漏的可移动元件。体细胞TE活性在个体植物之间存在差异,在TE家族内部也存在差异。最后,我们的方法指出,在包含两个紧密间隔的VANDAL21元件的区域中,替代转座可能是体细胞高突变性的一个原因。
长读长测序揭示了拟南芥低甲基化突变体体细胞中广泛存在的TE转座。评估体细胞而非生殖系中的转座是在单株植物水平上研究TE移动性不同方面的一种快速可靠的方法。