Role of Transposable Elements in Genome Stability: Implications for Health and Disease

Audesh Bhat, Trupti Ghatage, Sonali Bhan, Ganesh P. Lahane, Arti Dhar, Rakesh Kumar, Raj K. Pandita, Krishna M. Bhat, Kenneth S. Ramos, Tej K. Pandita

Research output: Contribution to journalReview articlepeer-review

14 Scopus citations


Most living organisms have in their genome a sizable proportion of DNA sequences capable of mobilization; these sequences are commonly referred to as transposons, transposable elements (TEs), or jumping genes. Although long thought to have no biological significance, advances in DNA sequencing and analytical technologies have enabled precise characterization of TEs and confirmed their ubiquitous presence across all forms of life. These findings have ignited intense debates over their biological significance. The available evidence now supports the notion that TEs exert major influence over many biological aspects of organismal life. Transposable elements contribute significantly to the evolution of the genome by giving rise to genetic variations in both active and passive modes. Due to their intrinsic nature of mobility within the genome, TEs primarily cause gene disruption and large-scale genomic alterations including inversions, deletions, and duplications. Besides genomic instability, growing evidence also points to many physiologically important functions of TEs, such as gene regulation through cis-acting control elements and modulation of the transcriptome through epigenetic control. In this review, we discuss the latest evidence demonstrating the impact of TEs on genome stability and the underling mechanisms, including those developed to mitigate the deleterious impact of TEs on genomic stability and human health. We have also highlighted the potential therapeutic application of TEs.

Original languageEnglish (US)
Article number7802
JournalInternational journal of molecular sciences
Issue number14
StatePublished - Jul 15 2022


  • DSB
  • genome
  • stability
  • transposons
  • Genomic Instability
  • Genomics
  • Humans
  • Regulatory Sequences, Nucleic Acid
  • DNA Transposable Elements/genetics
  • Transcriptome
  • Evolution, Molecular

ASJC Scopus subject areas

  • Molecular Biology
  • Spectroscopy
  • Catalysis
  • Inorganic Chemistry
  • Computer Science Applications
  • Physical and Theoretical Chemistry
  • Organic Chemistry


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