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

    Abstract

    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
    JournalCell
    Volume110
    Issue number3
    DOIs
    StatePublished - Aug 9 2002

    ASJC Scopus subject areas

    • Biochemistry, Genetics and Molecular Biology(all)

    Fingerprint Dive into the research topics of 'Human L1 retrotransposition is associated with genetic instability in vivo'. Together they form a unique fingerprint.

    Cite this