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

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 r...

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Main Authors: Francis Ebuara, Chinyere Ikele, Darin Rokyta
Format: Article
Language:English
Published: University of Mazandaran 2025-01-01
Series:Journal of Genetic Resources
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Online Access:https://sc.journals.umz.ac.ir/article_5439_96ae13d9c44e1de5d098db199c21ebfe.pdf
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author Francis Ebuara
Chinyere Ikele
Darin Rokyta
author_facet Francis Ebuara
Chinyere Ikele
Darin Rokyta
author_sort Francis Ebuara
collection DOAJ
description 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.
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spelling doaj-art-7eaf43c91efc4cafa11d1b1ec2e4b0922025-08-20T02:37:13ZengUniversity of MazandaranJournal of Genetic Resources2423-42572588-25892025-01-01111505910.22080/jgr.2025.28114.14115439Transposable Elements as Regulators of Gene Expression, Evolutionary Forces, and Disease ContributorsFrancis Ebuara0Chinyere Ikele1Darin Rokyta2Department of Biological Science, Florida State University, Tallahassee, FL 32306, USAIntegrated Germline Biology Group Laboratory, Osaka University, Osaka, JapanDepartment of Biological Science, Florida State University, Tallahassee, FL 32306, USATransposable 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.https://sc.journals.umz.ac.ir/article_5439_96ae13d9c44e1de5d098db199c21ebfe.pdfgene regulationgene expressionevolutiondiseasebioinformatics
spellingShingle Francis Ebuara
Chinyere Ikele
Darin Rokyta
Transposable Elements as Regulators of Gene Expression, Evolutionary Forces, and Disease Contributors
Journal of Genetic Resources
gene regulation
gene expression
evolution
disease
bioinformatics
title Transposable Elements as Regulators of Gene Expression, Evolutionary Forces, and Disease Contributors
title_full Transposable Elements as Regulators of Gene Expression, Evolutionary Forces, and Disease Contributors
title_fullStr Transposable Elements as Regulators of Gene Expression, Evolutionary Forces, and Disease Contributors
title_full_unstemmed Transposable Elements as Regulators of Gene Expression, Evolutionary Forces, and Disease Contributors
title_short Transposable Elements as Regulators of Gene Expression, Evolutionary Forces, and Disease Contributors
title_sort transposable elements as regulators of gene expression evolutionary forces and disease contributors
topic gene regulation
gene expression
evolution
disease
bioinformatics
url https://sc.journals.umz.ac.ir/article_5439_96ae13d9c44e1de5d098db199c21ebfe.pdf
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