Mobilizing diversity: Transposable element insertions in genetic variation and disease

Kathryn A O'Donnell-Mendell, Kathleen H. Burns

Research output: Contribution to journalReview articlepeer-review

55 Scopus citations


Transposable elements (TEs) comprise a large fraction of mammalian genomes. A number of these elements are actively jumping in our genomes today. As a consequence, these insertions provide a source of genetic variation and, in rare cases, these events cause mutations that lead to disease. Yet, the extent to which these elements impact their host genomes is not completely understood. This review will summarize our current understanding of the mechanisms underlying transposon regulation and the contribution of TE insertions to genetic diversity in the germline and in somatic cells. Finally, traditional methods and emerging technologies for identifying transposon insertions will be considered.

Original languageEnglish (US)
Article number21
JournalMobile DNA
Issue number1
StatePublished - 2010

ASJC Scopus subject areas

  • Molecular Biology


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