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The Sophisticated Transcriptional Response Governed by Transposable Elements in Human Health and Disease

1
Fondazione INGM, Istituto Nazionale di Genetica Molecolare “Enrica e Romeo Invernizzi”, 20122 Milan, Italy
2
Translational and Molecular Medicine, DIMET, University of Milan-Bicocca, 20900 Monza, Italy
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2020, 21(9), 3201; https://doi.org/10.3390/ijms21093201
Received: 7 April 2020 / Revised: 29 April 2020 / Accepted: 29 April 2020 / Published: 30 April 2020
(This article belongs to the Special Issue RNA Regulatory Networks)
Transposable elements (TEs), which cover ~45% of the human genome, although firstly considered as “selfish” DNA, are nowadays recognized as driving forces in eukaryotic genome evolution. This capability resides in generating a plethora of sophisticated RNA regulatory networks that influence the cell type specific transcriptome in health and disease. Indeed, TEs are transcribed and their RNAs mediate multi-layered transcriptional regulatory functions in cellular identity establishment, but also in the regulation of cellular plasticity and adaptability to environmental cues, as occurs in the immune response. Moreover, TEs transcriptional deregulation also evolved to promote pathogenesis, as in autoimmune and inflammatory diseases and cancers. Importantly, many of these findings have been achieved through the employment of Next Generation Sequencing (NGS) technologies and bioinformatic tools that are in continuous improvement to overcome the limitations of analyzing TEs sequences. However, they are highly homologous, and their annotation is still ambiguous. Here, we will review some of the most recent findings, questions and improvements to study at high resolution this intriguing portion of the human genome in health and diseases, opening the scenario to novel therapeutic opportunities. View Full-Text
Keywords: transposable elements; co-option; genome plasticity; immune system response; cancer progression; next generation sequencing approaches transposable elements; co-option; genome plasticity; immune system response; cancer progression; next generation sequencing approaches
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MDPI and ACS Style

Marasca, F.; Gasparotto, E.; Polimeni, B.; Vadalà, R.; Ranzani, V.; Bodega, B. The Sophisticated Transcriptional Response Governed by Transposable Elements in Human Health and Disease. Int. J. Mol. Sci. 2020, 21, 3201. https://doi.org/10.3390/ijms21093201

AMA Style

Marasca F, Gasparotto E, Polimeni B, Vadalà R, Ranzani V, Bodega B. The Sophisticated Transcriptional Response Governed by Transposable Elements in Human Health and Disease. International Journal of Molecular Sciences. 2020; 21(9):3201. https://doi.org/10.3390/ijms21093201

Chicago/Turabian Style

Marasca, Federica, Erica Gasparotto, Benedetto Polimeni, Rebecca Vadalà, Valeria Ranzani, and Beatrice Bodega. 2020. "The Sophisticated Transcriptional Response Governed by Transposable Elements in Human Health and Disease" International Journal of Molecular Sciences 21, no. 9: 3201. https://doi.org/10.3390/ijms21093201

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