LINE-1 elements in structural variation and disease

Christine R Beck, José Luis Garcia-Perez, Richard M Badge, John V Moran

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)187-215
Number of pages29
JournalAnnual review of genomics and human genetics
Publication statusPublished - 2011


  • Disease
  • Genetic Variation
  • Genome, Human
  • Humans
  • Long Interspersed Nucleotide Elements
  • Retroelements


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