The Role of <i>TCOF1</i> Gene in Health and Disease: Beyond Treacher Collins Syndrome
The nucleoli are membrane-less nuclear substructures that govern ribosome biogenesis and participate in multiple other cellular processes such as cell cycle progression, stress sensing, and DNA damage response. The proper functioning of these organelles is ensured by specific proteins that maintain...
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| Format: | Article |
| Language: | English |
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MDPI AG
2021-03-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/22/5/2482 |
| _version_ | 1797416391858454528 |
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| author | Małgorzata Grzanka Agnieszka Piekiełko-Witkowska |
| author_facet | Małgorzata Grzanka Agnieszka Piekiełko-Witkowska |
| author_sort | Małgorzata Grzanka |
| collection | DOAJ |
| description | The nucleoli are membrane-less nuclear substructures that govern ribosome biogenesis and participate in multiple other cellular processes such as cell cycle progression, stress sensing, and DNA damage response. The proper functioning of these organelles is ensured by specific proteins that maintain nucleolar structure and mediate key nucleolar activities. Among all nucleolar proteins, treacle encoded by <i>TCOF1</i> gene emerges as one of the most crucial regulators of cellular processes. <i>TCOF1</i> was initially discovered as a gene involved in the Treacher Collins syndrome, a rare genetic disorder characterized by severe craniofacial deformations. Later studies revealed that treacle regulates ribosome biogenesis, mitosis, proliferation, DNA damage response, and apoptosis. Importantly, several reports indicate that treacle is also involved in cancer development, progression, and response to therapies, and may contribute to other pathologies such as Hirschsprung disease. In this manuscript, we comprehensively review the structure, function, and the regulation of <i>TCOF1</i>/treacle in physiological and pathological processes. |
| first_indexed | 2024-03-09T06:02:33Z |
| format | Article |
| id | doaj.art-a69f6e7c916449d9a131e41621216f30 |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-09T06:02:33Z |
| publishDate | 2021-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-a69f6e7c916449d9a131e41621216f302023-12-03T12:07:33ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672021-03-01225248210.3390/ijms22052482The Role of <i>TCOF1</i> Gene in Health and Disease: Beyond Treacher Collins SyndromeMałgorzata Grzanka0Agnieszka Piekiełko-Witkowska1Department of Biochemistry and Molecular Biology, Centre of Postgraduate Medical Education, 01-813 Warsaw, PolandDepartment of Biochemistry and Molecular Biology, Centre of Postgraduate Medical Education, 01-813 Warsaw, PolandThe nucleoli are membrane-less nuclear substructures that govern ribosome biogenesis and participate in multiple other cellular processes such as cell cycle progression, stress sensing, and DNA damage response. The proper functioning of these organelles is ensured by specific proteins that maintain nucleolar structure and mediate key nucleolar activities. Among all nucleolar proteins, treacle encoded by <i>TCOF1</i> gene emerges as one of the most crucial regulators of cellular processes. <i>TCOF1</i> was initially discovered as a gene involved in the Treacher Collins syndrome, a rare genetic disorder characterized by severe craniofacial deformations. Later studies revealed that treacle regulates ribosome biogenesis, mitosis, proliferation, DNA damage response, and apoptosis. Importantly, several reports indicate that treacle is also involved in cancer development, progression, and response to therapies, and may contribute to other pathologies such as Hirschsprung disease. In this manuscript, we comprehensively review the structure, function, and the regulation of <i>TCOF1</i>/treacle in physiological and pathological processes.https://www.mdpi.com/1422-0067/22/5/2482<i>TCOF1</i>treaclenucleolusTreacher Collins syndromeribosome biogenesisDNA damage response |
| spellingShingle | Małgorzata Grzanka Agnieszka Piekiełko-Witkowska The Role of <i>TCOF1</i> Gene in Health and Disease: Beyond Treacher Collins Syndrome International Journal of Molecular Sciences <i>TCOF1</i> treacle nucleolus Treacher Collins syndrome ribosome biogenesis DNA damage response |
| title | The Role of <i>TCOF1</i> Gene in Health and Disease: Beyond Treacher Collins Syndrome |
| title_full | The Role of <i>TCOF1</i> Gene in Health and Disease: Beyond Treacher Collins Syndrome |
| title_fullStr | The Role of <i>TCOF1</i> Gene in Health and Disease: Beyond Treacher Collins Syndrome |
| title_full_unstemmed | The Role of <i>TCOF1</i> Gene in Health and Disease: Beyond Treacher Collins Syndrome |
| title_short | The Role of <i>TCOF1</i> Gene in Health and Disease: Beyond Treacher Collins Syndrome |
| title_sort | role of i tcof1 i gene in health and disease beyond treacher collins syndrome |
| topic | <i>TCOF1</i> treacle nucleolus Treacher Collins syndrome ribosome biogenesis DNA damage response |
| url | https://www.mdpi.com/1422-0067/22/5/2482 |
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