Progress in understanding the biology of the human mutagen LINE-1

Daria V. Babushok, Haig H. Kazazian

Research output: Contribution to journalReview articlepeer-review


Long interspersed nucleotide element (LINE)-1 retrotransposon (L1) has emerged as the largest contributor to mammalian genome mass, responsible for over 35% of the human genome. Differences in the number and activity levels of Lis contribute to interindividual variation in humans, both by affecting an individual's likelihood of acquiring new L1-mediated mutations, as well as by differentially modifying gene expression. Here, we report on recent progress in understanding L1 biology, with a focus on mechanisms of L1-mediated disease. We discuss known details of L1 lifecycle, including L1 structure, transcriptional regulation, and the mechanisms of translation and retrotransposition. Current views on cell type specificity, timing, and control of retrotransposition are put forth. Finally, we discuss the role of L1 as a mutagen, using the latest findings in L1 biology to illuminate molecular mechanisms of L1-mediated gene disruption.

Original languageEnglish (US)
Pages (from-to)527-539
Number of pages13
JournalHuman mutation
Issue number6
StatePublished - Jun 2007
Externally publishedYes


  • Antisense transcription
  • Bicistronic transcript
  • Gene disruption
  • Genome evolution
  • Human mutation
  • L1
  • LINE-1
  • RNAi
  • Retrotransposition
  • Termination/reinitiation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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