LINE-1 Elements in Structural Variation and Disease

By C. Beck, Jose Luis Garcia-Perez, Richard Badge, J. V. Moran. Annual review of genomics and human genetics (Print), 2011

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The completion of the human genome reference sequence ushered in a new era for the study and discovery of human transposable elements. It now is undeniable that transposable elements, historically dismissed as junk DNA, have had an instrumental role in sculpting the structure and function of our genomes. In particular, long interspersed element-1 (LINE-1 or L1) and short interspersed elements (SINEs) continue to affect our genome, and their movement can lead to sporadic cases of disease. Here, we briefly review the types of transposable elements present in the human genome and their mechanisms of mobility. We next highlight how advances in DNA sequencing and genomic technologies have enabled the discovery of novel retrotransposons in individual genomes. Finally, we discuss how L1-mediated retrotransposition events impact human genomes.

Subfields: Molecular Biology, Plant Science

View Paper: https://www.semanticscholar.org/paper/7036ccbf6134d1f3f57ca58e5b592c8ff1aa2166

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From telomere to telomere: the transcriptional and epigenetic state of human repeat elements (2021, background): “L1Hs elements, considered a major contributor to human structural variation (76), show a strong promoter-proximal pause signal at the 5’ end, where the promoter resides (77)(Fig.”