The Impact of LINE-1 Retro transposition on the Human Genome

Long interspersed element-1 (LINE-1 or L1) is an abundant retrotransposon that comprises approx 17% of human DNA. L1 retrotransposition events can lead to genome diversification and individual genetic variation by serving as insertional mutagens and by providing recombination substrates either during or long after their insertion. L1 retrotransposition also generates genomic variation by mobilizing DNA derived from its flanks, non-autonomous retrotransposons (e.g., Alu elements), and cellular mRNAs to new genomic locations. Together, these sequences comprise approx 15% of human genomic DNA. Thus, L1-mediated retrotransposition events are responsible for at least one-third of our genome. In this chapter, we discuss how innovative assays developed in recent years have increased our understanding of L1 biology and the impact of L1 on the human genome. These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.