LINE-1 retrotransposition in human embryonic stem cells

Jose L Garcia-Perez, Maria C N Marchetto, Alysson R Muotri, Nicole G Coufal, Fred H Gage, K Sue O'Shea, John V Moran

Research output: Contribution to journalArticlepeer-review

Abstract / Description of output

LINE-1 elements comprise approximately 17% of human DNA and their mobility continues to impact genome evolution. However, little is known about the types of non-transformed cells that can support LINE-1 retrotransposition. Here, we show that human embryonic stem cells express endogenous LINE-1 elements and can accommodate LINE-1 retrotransposition in vitro. The resultant retrotransposition events can occur into genes and can result in the concomitant deletion of genomic DNA at the target site. Thus, these data suggest that LINE-1 retrotransposition events may occur during early stages of human development.

Original languageEnglish
Pages (from-to)1569-77
Number of pages9
JournalHuman Molecular Genetics
Issue number13
Publication statusPublished - 1 Jul 2007

Keywords / Materials (for Non-textual outputs)

  • Cell Differentiation
  • Cell Line
  • Cell Line, Tumor
  • DNA
  • Embryonic Stem Cells
  • Evolution, Molecular
  • Genome
  • Humans
  • Long Interspersed Nucleotide Elements
  • Microscopy, Phase-Contrast
  • Models, Genetic
  • Plasmids
  • Polymerase Chain Reaction
  • Retroelements
  • Transfection


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