Muotri Alysson R
University of California San Diego, Department of Pediatrics, La Jolla, CA, USA.
University of California San Diego, Department of Cellular & Molecular Medicine, La Jolla, CA , USA.
Genet Mol Biol. 2023 Jan 30;46(1):e20220268. doi: 10.1590/1678-4685-GMB-2022-0268. eCollection 2023.
LINE-1 (L1) elements are a class of transposons, comprising approximately 19% and 21% of the mouse and human genomes, respectively. L1 retrotransposons can reverse transcribe their own RNA sequence into a de novo DNA copy integrated into a new genomic location. This activity, known as retrotransposition, may induce genomic alterations, such as insertions and deletions. Interestingly, L1s can retrotranspose and generate more de novo L1 copies in brains than in other somatic tissues. Here, we describe for the first time interchromosomal translocation triggered by ectopic L1 retrotransposition in neural progenitor cells. Such an observation adds to the studies in neurological and psychiatric diseases that exhibited variation in L1 activity between diseased brains compared with controls, suggesting that L1 activity could be detrimental when de-regulated.
LINE-1(L1)元件是一类转座子,分别约占小鼠和人类基因组的19%和21%。L1逆转录转座子能够将自身的RNA序列逆转录成一个全新的DNA拷贝,并整合到新的基因组位置。这种活动,即逆转座,可能会诱导基因组改变,如插入和缺失。有趣的是,与其他体细胞组织相比,L1在大脑中能够进行逆转座并产生更多全新的L1拷贝。在这里,我们首次描述了神经祖细胞中异位L1逆转座引发的染色体间易位。这一观察结果为神经学和精神疾病的研究增添了内容,这些研究表明,与对照组相比,患病大脑中L1的活性存在差异,这表明L1活性失调时可能是有害的。