Review
Mobilizing diversity: transposable element insertions in genetic variation and disease
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* Corresponding author: Kathryn A O'Donnell kodonnel@jhmi.edu
1 Department of Molecular Biology and Genetics, The Johns Hopkins University School of Medicine, Baltimore, MD, USA
2 The High Throughput Biology Center, The Johns Hopkins University School of Medicine, Baltimore, MD, USA
3 Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, MD, USA
4 Department of Oncology, The Johns Hopkins University School of Medicine, Baltimore, MD, USA
Mobile DNA 2010, 1:21 doi:10.1186/1759-8753-1-21
Published: 2 September 2010Abstract
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.