The Sophisticated Transcriptional Response Governed by Transposable Elements in Human Health and Disease
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...
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| Format: | Article |
| Language: | English |
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MDPI AG
2020-04-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/21/9/3201 |
| _version_ | 1797569092319707136 |
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| author | Federica Marasca Erica Gasparotto Benedetto Polimeni Rebecca Vadalà Valeria Ranzani Beatrice Bodega |
| author_facet | Federica Marasca Erica Gasparotto Benedetto Polimeni Rebecca Vadalà Valeria Ranzani Beatrice Bodega |
| author_sort | Federica Marasca |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-10T20:07:05Z |
| format | Article |
| id | doaj.art-0253bd8e5e6446dc9c3bcaeb975b1192 |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-10T20:07:05Z |
| publishDate | 2020-04-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-0253bd8e5e6446dc9c3bcaeb975b11922023-11-19T23:11:39ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672020-04-01219320110.3390/ijms21093201The Sophisticated Transcriptional Response Governed by Transposable Elements in Human Health and DiseaseFederica Marasca0Erica Gasparotto1Benedetto Polimeni2Rebecca Vadalà3Valeria Ranzani4Beatrice Bodega5Fondazione INGM, Istituto Nazionale di Genetica Molecolare “Enrica e Romeo Invernizzi”, 20122 Milan, ItalyFondazione INGM, Istituto Nazionale di Genetica Molecolare “Enrica e Romeo Invernizzi”, 20122 Milan, ItalyFondazione INGM, Istituto Nazionale di Genetica Molecolare “Enrica e Romeo Invernizzi”, 20122 Milan, ItalyFondazione INGM, Istituto Nazionale di Genetica Molecolare “Enrica e Romeo Invernizzi”, 20122 Milan, ItalyFondazione INGM, Istituto Nazionale di Genetica Molecolare “Enrica e Romeo Invernizzi”, 20122 Milan, ItalyFondazione INGM, Istituto Nazionale di Genetica Molecolare “Enrica e Romeo Invernizzi”, 20122 Milan, ItalyTransposable 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.https://www.mdpi.com/1422-0067/21/9/3201transposable elementsco-optiongenome plasticityimmune system responsecancer progressionnext generation sequencing approaches |
| spellingShingle | Federica Marasca Erica Gasparotto Benedetto Polimeni Rebecca Vadalà Valeria Ranzani Beatrice Bodega The Sophisticated Transcriptional Response Governed by Transposable Elements in Human Health and Disease International Journal of Molecular Sciences transposable elements co-option genome plasticity immune system response cancer progression next generation sequencing approaches |
| title | The Sophisticated Transcriptional Response Governed by Transposable Elements in Human Health and Disease |
| title_full | The Sophisticated Transcriptional Response Governed by Transposable Elements in Human Health and Disease |
| title_fullStr | The Sophisticated Transcriptional Response Governed by Transposable Elements in Human Health and Disease |
| title_full_unstemmed | The Sophisticated Transcriptional Response Governed by Transposable Elements in Human Health and Disease |
| title_short | The Sophisticated Transcriptional Response Governed by Transposable Elements in Human Health and Disease |
| title_sort | sophisticated transcriptional response governed by transposable elements in human health and disease |
| topic | transposable elements co-option genome plasticity immune system response cancer progression next generation sequencing approaches |
| url | https://www.mdpi.com/1422-0067/21/9/3201 |
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