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Related Experiment Videos

Which transposable elements are active in the human genome?

Ryan E Mills1, E Andrew Bennett, Rebecca C Iskow

  • 1Department of Biochemistry, Emory University School of Medicine, Atlanta, GA 30322, USA.

Trends in Genetics : TIG
|March 3, 2007
PubMed
Summary
This summary is machine-generated.

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Active human transposons, including Alu, L1, and SVA elements, drive genetic diversity and disease by mobilizing within the genome. This review examines these mobile elements and their mobilization mechanisms.

Area of Science:

  • Genomics
  • Molecular Biology
  • Human Genetics

Background:

  • The human genome contains a large proportion of repetitive elements, with transposons occupying 44% of its sequence.
  • Despite their abundance, only a small fraction (<0.05%) of these transposons remain active and mobile in the human genome.
  • Active transposons, such as Alu, L1, SVA, and potentially HERV-K elements, are significant due to their roles in generating genetic diversity and causing diseases.

Purpose of the Study:

  • To review the currently active human transposons.
  • To explore the mechanistic factors influencing the mobilization of these active elements.
  • To highlight the impact of active transposons on human genetic diversity and disease.

Main Methods:

  • Literature review of recent evidence on active human transposons.

Related Experiment Videos

  • Analysis of genomic data concerning transposon activity and distribution.
  • Examination of molecular mechanisms underlying transposon mobilization.

    • Main Results:

    • Approximately 35-40 subfamilies of Alu, L1, and SVA elements are identified as actively mobile.
    • Evidence suggests potential activity of HERV-K elements.
    • Active transposons contribute to genetic variation and can cause disease through gene integration.

    Conclusions:

    • Active human transposons are key drivers of genomic evolution and disease.
    • Understanding transposon mobilization mechanisms is crucial for comprehending their impact.
    • Further research into active transposons is warranted to explore their full biological significance.