Department of Molecular and Clinical Pharmacology, Institute of Translational Medicine, University of Liverpool, Liverpool, UK.
Division of Medical Biotechnology, Paul-Ehrlich-Institut, Langen, Germany.
J Neurol Neurosurg Psychiatry. 2019 Mar;90(3):284-293. doi: 10.1136/jnnp-2018-319210. Epub 2018 Oct 10.
Endogenous retrotransposon sequences constitute approximately 42% of the human genome, and mobilisation of retrotransposons has resulted in rearrangements, duplications, deletions, novel transcripts and the introduction of new regulatory domains throughout the human genome. Both germline and somatic de novo retrotransposition events have been involved in a range of human diseases, and there is emerging evidence for the modulation of retrotransposon activity during the development of specific diseases. Particularly, there is unequivocal consensus that endogenous retrotransposition can occur in neuronal lineages. This review addresses our current knowledge of the different mechanisms through which retrotransposons might influence the development of and predisposition to amyotrophic lateral sclerosis.
内源性逆转录转座子序列约占人类基因组的 42%，逆转录转座子的转座导致了人类基因组中重排、重复、缺失、新转录本和新调控域的产生。生殖细胞和体细胞新生逆转录转座事件与多种人类疾病有关，并且有越来越多的证据表明逆转录转座子的活性在特定疾病的发展过程中受到调节。特别是，人们已经明确共识，内源性逆转录转座可以发生在神经元谱系中。本综述探讨了我们目前对内源性逆转录转座子如何影响肌萎缩侧索硬化症的发展和易感性的不同机制的认识。
