Fondazione INGM, Istituto Nazionale di Genetica Molecolare "Enrica e Romeo Invernizzi", 20122 Milan, Italy.
SEMM, European School of Molecular Medicine, 20139 Milan, Italy.
Int J Mol Sci. 2023 Jan 30;24(3):2610. doi: 10.3390/ijms24032610.
The genome is no longer deemed as a fixed and inert item but rather as a moldable matter that is continuously evolving and adapting. Within this frame, Transposable Elements (TEs), ubiquitous, mobile, repetitive elements, are considered an alive portion of the genomes to date, whose functions, although long considered "dark", are now coming to light. Here we will review that, besides the detrimental effects that TE mobilization can induce, TEs have shaped genomes in their current form, promoting genome sizing, genomic rearrangements and shuffling of DNA sequences. Although TEs are mostly represented in the genomes by evolutionarily old, short, degenerated, and sedentary fossils, they have been thoroughly co-opted by the hosts as a prolific and original source of regulatory instruments for the control of gene transcription and genome organization in the nuclear space. For these reasons, the deregulation of TE expression and/or activity is implicated in the onset and progression of several diseases. It is likely that we have just revealed the outermost layers of TE functions. Further studies on this portion of the genome are required to unlock novel regulatory functions that could also be exploited for diagnostic and therapeutic approaches.
基因组不再被视为固定和惰性的物质，而是一种可塑的物质，不断进化和适应。在这个框架内，转座元件（TEs），无处不在、移动、重复的元件，被认为是迄今为止基因组的一个有生命的部分，其功能虽然长期以来被认为是“黑暗”的，但现在正在被揭示。在这里，我们将回顾一下，除了 TE 动员可能引起的有害影响外，TEs 还以其目前的形式塑造了基因组，促进了基因组的大小、基因组重排和 DNA 序列的混合。尽管 TEs 在基因组中主要以进化古老、短、退化和静止的化石形式存在，但它们已被宿主充分利用，成为核空间中基因转录和基因组组织调控的丰富而原始的工具来源。由于这些原因，TE 表达和/或活性的失调与几种疾病的发生和进展有关。我们可能刚刚揭示了 TE 功能的最外层。需要对这部分基因组进行进一步的研究，以揭示新的调控功能，这些功能也可以用于诊断和治疗方法。
