Academic Journal
Interdependence between Nuclear Pore Gatekeepers and Genome Caretakers: Cues from Genome Instability Syndromes
| العنوان: | Interdependence between Nuclear Pore Gatekeepers and Genome Caretakers: Cues from Genome Instability Syndromes |
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| المؤلفون: | Lidia Larizza, Elisa Adele Colombo |
| المصدر: | International Journal of Molecular Sciences, Vol 25, Iss 17, p 9387 (2024) |
| بيانات النشر: | MDPI AG |
| سنة النشر: | 2024 |
| المجموعة: | Directory of Open Access Journals: DOAJ Articles |
| مصطلحات موضوعية: | NUP98 nucleoporopathy, nucleoporins, NPC damage, Rothmund–Thomson syndrome, Werner syndrome, POIKTMP, Biology (General), QH301-705.5, Chemistry, QD1-999 |
| الوصف: | This review starts off with the first germline homozygous variants of the Nucleoporin 98 gene ( NUP98 ) in siblings whose clinical presentation recalls Rothmund–Thomson (RTS) and Werner (WS) syndromes. The progeroid phenotype caused by a gene associated with haematological malignancies and neurodegenerative disorders primed the search for interplay between caretakers involved in genome instability syndromes and Nuclear Pore Complex (NPC) components. In the context of basic information on NPC architecture and functions, we discuss the studies on the interdependence of caretakers and gatekeepers in WS and Hereditary Fibrosing Poikiloderma (POIKTMP), both entering in differential diagnosis with RTS. In WS, the WRN/WRNIP complex interacts with nucleoporins of the Y-complex and NDC1 altering NPC architecture. In POIKTMP, the mutated FAM111B, recruited by the Y-complex’s SEC13 and NUP96, interacts with several Nups safeguarding NPC structure. The linkage of both defective caretakers to the NPC highlights the attempt to activate a repair hub at the nuclear periphery to restore the DNA damage. The two separate WS and POIKTMP syndromes are drawn close by the interaction of their damage sensors with the NPC and by the shared hallmark of short fragile telomeres disclosing a major role of both caretakers in telomere maintenance. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 1422-0067 1661-6596 |
| Relation: | https://www.mdpi.com/1422-0067/25/17/9387; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/25030fec56ad470a93d47cd80d9efaf8 |
| DOI: | 10.3390/ijms25179387 |
| الاتاحة: | https://doi.org/10.3390/ijms25179387 https://doaj.org/article/25030fec56ad470a93d47cd80d9efaf8 |
| رقم الانضمام: | edsbas.63856A00 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 14220067 16616596 |
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| DOI: | 10.3390/ijms25179387 |