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Which transposable elements are active in the human genome?

期刊

TRENDS IN GENETICS
卷 23, 期 4, 页码 183-191

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ELSEVIER SCIENCE LONDON
DOI: 10.1016/j.tig.2007.02.006

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资金

  1. NHGRI NIH HHS [5R01HG002898, R01 HG002898, R01 HG002898-03] Funding Source: Medline
  2. NIGMS NIH HHS [T32 GM008490, 2T32GM00849] Funding Source: Medline
  3. NATIONAL HUMAN GENOME RESEARCH INSTITUTE [R01HG002898] Funding Source: NIH RePORTER
  4. NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES [T32GM008490] Funding Source: NIH RePORTER

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Although a large proportion (44%) of the human genome is occupied by transposons and transposon-like repetitive elements, only a small proportion (< 0.05%) of these elements remain active today. Recent evidence indicates that similar to 35-40 subfamilies of Alu, L1 and SVA elements (and possibly HERV-K elements) remain actively mobile in the human genome. These active transposons are of great interest because they continue to produce genetic diversity in human populations and also cause human diseases by integrating into genes. In this review, we examine these active human transposons and explore mechanistic factors that influence their mobilization.

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