Human L1 retrotransposition is associated with genetic instability in vivo

David E. Symer, Carla Connelly, Suzanne T. Szak, Emerita M. Caputo, Gregory J. Cost, Giovanni Parmigiani, Jef D. Boeke

Research output: Contribution to journalArticlepeer-review

320 Scopus citations


Retrotransposons have shaped eukaryotic genomes for millions of years. To analyze the consequences of human L1 retrotransposition, we developed a genetic system to recover many new L1 insertions in somatic cells. Forty-two de novo integrants were recovered that faithfully mimic many aspects of L1s that accumulated since the primate radiation. Their structures experimentally demonstrate an association between L1 retrotransposition and various forms of genetic instability. Numerous L1 element inversions, extra nucleotide insertions, exon deletions, a chromosomal inversion, and flanking sequence comobilization (called 5′ transduction) were identified. In a striking number of integrants, short identical sequences were shared between the donor and the target site's 3′ end, suggesting a mechanistic model that helps explain the structure of L1 insertions.

Original languageEnglish (US)
Pages (from-to)327-338
Number of pages12
Issue number3
StatePublished - Aug 9 2002
Externally publishedYes

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)


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