Transposable Elements as Regulators of Gene Expression, Evolutionary Forces, and Disease Contributors

Document Type : Review Article

Authors

1 Department of Biological Science, Florida State University, Tallahassee, FL 32306, USA

2 Integrated Germline Biology Group Laboratory, Osaka University, Osaka, Japan

Abstract

Transposable elements (TEs), once considered "junk DNA," are now recognized as significant players in gene regulation, genome evolution, and disease development. These mobile genetic sequences act as enhancers, promoters, or silencers, influencing gene expression in various species. This review explores the multifaceted roles of TEs in gene regulation, focusing on organisms such as maize, Drosophila, and mice. The present study closely examined the evolutionary impact of TEs, highlighting how they contribute to genetic diversity and innovation through chimeric transcripts and exaptation. This research also discussed the involvement of TEs by exertion of genomic instability and oncogenic activation in diseases like cancer, neurological disorders, and autoimmune conditions. Finally, it discussed experimental approaches for analyzing TE-fusion transcripts, providing insights into their evolutionary and pathogenic potentials. This comprehensive overview underscores the dual nature of TEs as drivers of genetic innovation and contributors to disease. It further highlights the need to study TE mechanisms to fully understand the complex roles of TEs in biology and disease.

Keywords

Main Subjects

References

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Journal of Genetic Resources
Volume 11, Issue 1
Issue in Progress
2025
Pages 50-59

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