Human transposon tectonics

Kathleen H. Burns, Jef D. Boeke

    Research output: Contribution to journalReview articlepeer-review

    Abstract

    Mobile DNAs have had a central role in shaping our genome. More than half of our DNA is comprised of interspersed repeats resulting from replicative copy and paste events of retrotransposons. Although most are fixed, incapable of templating new copies, there are important exceptions to retrotransposon quiescence. De novo insertions cause genetic diseases and cancers, though reliably detecting these occurrences has been difficult. New technologies aimed at uncovering polymorphic insertions reveal that mobile DNAs provide a substantial and dynamic source of structural variation. Key questions going forward include how and how much new transposition events affect human health and disease.

    Original languageEnglish (US)
    Pages (from-to)740-752
    Number of pages13
    JournalCell
    Volume149
    Issue number4
    DOIs
    StatePublished - May 11 2012

    ASJC Scopus subject areas

    • Biochemistry, Genetics and Molecular Biology(all)

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