Saleh Aurian, Macia Angela, Muotri Alysson R
Department of Pediatrics, Rady Children's Hospital San Diego, University of California, San Diego, San Diego, CA, United States.
Front Neurol. 2019 Aug 20;10:894. doi: 10.3389/fneur.2019.00894. eCollection 2019.
Transposable Elements (TE) are mobile DNA elements that can replicate and insert themselves into different locations within the host genome. Their propensity to self-propagate has a myriad of consequences and yet their biological significance is not well-understood. Indeed, retrotransposons have evaded evolutionary attempts at repression and may contribute to somatic mosaicism. Retrotransposons are emerging as potent regulatory elements within the human genome. In the diseased state, there is mounting evidence that endogenous retroelements play a role in etiopathogenesis of inflammatory diseases, with a disposition for both autoimmune and neurological disorders. We postulate that active mobile genetic elements contribute more to human disease pathogenesis than previously thought.
转座元件(TE)是可移动的DNA元件,能够进行复制并将自身插入宿主基因组内的不同位置。它们自我增殖的倾向会产生无数后果,然而其生物学意义尚未得到充分理解。事实上,逆转录转座子规避了进化过程中的抑制尝试,可能导致体细胞镶嵌性。逆转录转座子正成为人类基因组中强大的调控元件。在疾病状态下,越来越多的证据表明内源性逆转录元件在炎症性疾病的病因发病机制中发挥作用,在自身免疫性疾病和神经疾病中均有倾向。我们推测,活跃的可移动遗传元件对人类疾病发病机制的贡献比之前认为的更大。