Journal
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 12
Volume 12, Issue -, Pages 187-215Publisher
ANNUAL REVIEWS
DOI: 10.1146/annurev-genom-082509-141802
Keywords
retrotransposon; polymorphism; transposable elements; genome diversity; mutation
Categories
Funding
- NATIONAL HUMAN GENOME RESEARCH INSTITUTE [T32HG000040] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES [T32GM007544, R01GM082970, R01GM060518] Funding Source: NIH RePORTER
- Howard Hughes Medical Institute Funding Source: Medline
- NHGRI NIH HHS [T32 HG000040] Funding Source: Medline
- NIGMS NIH HHS [T32 GM007544, R01 GM060518, GM082970, T32GM7544, GM060518, R01 GM082970] Funding Source: Medline
- PHS HHS [T32000040] Funding Source: Medline
- Wellcome Trust [075163/Z/04/Z] Funding Source: Medline
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The completion of the human genome reference sequence ushered in a new era for the study and discovery of human transposable elements. It now is undeniable that transposable elements, historically dismissed as junk DNA, have had an instrumental role in sculpting the structure and function of our genomes. In particular, long interspersed element-1 (LINE-1 or L1) and short interspersed elements (SINEs) continue to affect our genome, and their movement can lead to sporadic cases of disease. Here, we briefly review the types of transposable elements present in the human genome and their mechanisms of mobility. We next highlight how advances in DNA sequencing and genomic technologies have enabled the discovery of novel retrotransposons in individual genomes. Finally, we discuss how L1-mediated retrotransposition events impact human genomes.
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