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Cell. 2012 May 11;149(4):740-52. doi: 10.1016/j.cell.2012.04.019.

Human transposon tectonics.

Author information

1
Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. kburns@jhmi.edu

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.

PMID:
22579280
PMCID:
PMC3370394
DOI:
10.1016/j.cell.2012.04.019
[Indexed for MEDLINE]
Free PMC Article

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