Tam Oliver H, Ostrow Lyle W, Gale Hammell Molly
1Quantitative Biology, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724 USA.
2Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205 USA.
Mob DNA. 2019 Jul 26;10:32. doi: 10.1186/s13100-019-0176-1. eCollection 2019.
Transposable Elements (TEs) are mobile genetic elements whose sequences constitute nearly half of the human genome. Each TE copy can be present in hundreds to thousands of locations within the genome, complicating the genetic and genomic studies of these highly repetitive sequences. The recent development of better tools for evaluating TE derived sequences in genomic studies has enabled an increasing appreciation for the contribution of TEs to human development and disease. While some TEs have contributed novel and beneficial host functions, this review will summarize the evidence for detrimental TE activity in neurodegenerative disorders. Much of the evidence for pathogenicity implicates endogenous retroviruses (ERVs), a subset of TEs that entered the genome by retroviral infections of germline cells in our evolutionary ancestors and have since been passed down as a substantial fraction of the human genome. Human specific ERVs (HERVs) represent some of the youngest ERVs in the genome, and thus are presumed to retain greater function and resultant pathogenic potential.
转座元件（TEs）是可移动的遗传元件，其序列构成了近一半的人类基因组。每个TE拷贝可存在于基因组内数百到数千个位置，这使得对这些高度重复序列的遗传和基因组研究变得复杂。基因组研究中用于评估TE衍生序列的更好工具的最新发展，使得人们越来越认识到TEs对人类发育和疾病的贡献。虽然一些TEs赋予了新的有益宿主功能，但本综述将总结TEs在神经退行性疾病中有害活性的证据。许多致病性证据涉及内源性逆转录病毒（ERVs），这是TEs的一个子集，在我们进化祖先的生殖细胞被逆转录病毒感染后进入基因组，此后作为人类基因组的很大一部分遗传下来。人类特异性ERVs（HERVs）代表了基因组中一些最年轻的ERVs，因此被认为保留了更大的功能和由此产生的致病潜力。
