Roles for retrotransposon insertions in human disease

Dustin C. Hancks, Haig H. Kazazian

Research output: Contribution to journalReview articlepeer-review

232 Scopus citations


Over evolutionary time, the dynamic nature of a genome is driven, in part, by the activity of transposable elements (TE) such as retrotransposons. On a shorter time scale it has been established that new TE insertions can result in single-gene disease in an individual. In humans, the non-LTR retrotransposon Long INterspersed Element-1 (LINE-1 or L1) is the only active autonomous TE. In addition to mobilizing its own RNA to new genomic locations via a "copy-and-paste" mechanism, LINE-1 is able to retrotranspose other RNAs including Alu, SVA, and occasionally cellular RNAs. To date in humans, 124 LINE-1-mediated insertions which result in genetic diseases have been reported. Disease causing LINE-1 insertions have provided a wealth of insight and the foundation for valuable tools to study these genomic parasites. In this review, we provide an overview of LINE-1 biology followed by highlights from new reports of LINE-1-mediated genetic disease in humans.

Original languageEnglish (US)
Article number65
JournalMobile DNA
Issue number1
StatePublished - May 6 2016


  • Alu
  • Autoimmunity
  • Cancer
  • Disease
  • LINE-1
  • LINE-1
  • Retrotransposition
  • Retrotransposon
  • SVA

ASJC Scopus subject areas

  • Molecular Biology


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