Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Cell. 2012 May 11;149(4):740-52. doi: 10.1016/j.cell.2012.04.019.
Mobile DNAs have had a central role in shaping our genome. More than half of our DNA is comprised of interspersed repeats resulting from replicative copy and paste events of retrotransposons. Although most are fixed, incapable of templating new copies, there are important exceptions to retrotransposon quiescence. De novo insertions cause genetic diseases and cancers, though reliably detecting these occurrences has been difficult. New technologies aimed at uncovering polymorphic insertions reveal that mobile DNAs provide a substantial and dynamic source of structural variation. Key questions going forward include how and how much new transposition events affect human health and disease.
移动 DNA 在塑造我们的基因组方面发挥了核心作用。超过一半的 DNA 由反转录转座子复制和粘贴事件产生的分散重复序列组成。虽然大多数是固定的，不能为新的拷贝提供模板，但反转录转座子的静止存在一些重要的例外。新的插入会导致遗传疾病和癌症，尽管可靠地检测这些情况一直很困难。旨在揭示多态性插入的新技术表明，移动 DNA 是结构变异的重要且动态的来源。未来的关键问题包括新的转座事件如何以及在多大程度上影响人类健康和疾病。
