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Abstract：
Over half of human genomic DNA is composed of repetitive sequences generated throughout evolution by prolific mobile genetic parasites called transposable elements (TEs). Long disregarded as \"junk\" or \"selfish\" DNA, TEs are increasingly recognized as formative elements in genome evolution, wired intimately into the structure and function of the human genome. Advances in sequencing technologies and computational methods have ushered in an era of unprecedented insight into how TE activity impacts human biology in health and disease. Here we discuss the current views on how TEs have shaped the regulatory landscape of the human genome, how TE activity is implicated in human cancers, and how recent findings motivate novel strategies to leverage TE activity for improved cancer therapy. Given the crucial role of methodological advances in TE biology, we pair our conceptual discussions with an in-depth review of the inherent technical challenges in studying repeats, specifically related to structural variation, expression analyses, and chromatin regulation. Lastly, we provide a catalog of existing and emerging assays and bioinformatic software that altogether are enabling the most sophisticated and comprehensive investigations yet into the regulation and function of interspersed repeats in cancer genomes.
摘要：
超过一半的人类基因组DNA由在整个进化过程中由称为转座因子（TE）的多产可移动遗传寄生虫产生的重复序列组成。长期以来被视为“垃圾”或“自私”的DNA，TEs越来越被认为是基因组进化中的形成元件，与人类基因组的结构和功能紧密相连。测序技术和计算方法的进步开创了一个前所未有的时代，即TE活动如何影响人类健康和疾病生物学。在这里，我们讨论关于TE如何塑造人类基因组调控景观的当前观点，TE活性如何与人类癌症有关，以及最近的发现如何激发新的策略来利用TE活性来改善癌症治疗。鉴于方法进步在TE生物学中的关键作用，我们将我们的概念讨论与对重复研究中固有的技术挑战的深入审查相结合，特别是与结构变化有关，表达分析，和染色质调节。最后,我们提供了一个现有的和新兴的检测和生物信息学软件的目录，这些软件能够对癌症基因组中散布重复的调控和功能进行最复杂和最全面的研究。
