Interdependence between Nuclear Pore Gatekeepers and Genome Caretakers: Cues from Genome Instability Syndromes
Abstract
:1. Scope of the Review
2. Architecture of the Nuclear Pore Complex
3. Functions of the Nuclear Pore Complex
4. The NPC and Human Disease
5. Bridging Genome Instability Syndromes to the Nuclear Pore
6. NUP98 Biallelic Variants Underlie a Rothmund–Thomson-like Phenotype
7. NUP98: A Dynamic Multitasking FG-NUP
8. Link of WRN/WRNIP Complex to Nucleoporins
9. Interactions of FAM111B Protease, Mutated in Hereditary Fibrosing Poikiloderma, and Nuclear Pore Components
10. Concluding Remarks
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Clinical Features | NUP98 Siblings | RTS2 | RTS1 |
---|---|---|---|
Causative gene | NUP98 | RECQL4 | ANAPC1 |
Skin pigmentation | Mottled pigmentation since adolescence | Early poikiloderma | Early poikiloderma |
Dry and fragile skin | + | + | + |
Thin and fragile hair | + | + | + |
Eyelashes/eyebrows | Absent | Absent | Absent |
Eye abnormalities | Bilateral cataracts since infancy | − | Juvenile cataracts |
Ungual abnormalities | − | + | ± |
Dental decay | + since adolescence | + | ± |
Short stature | + * | + | + |
Skeletal abnormalities | Osteoporosis in third decade | + | + |
Hypogonadism/oligomenorrhea | + | +/− | + |
Malignancies | − (untill sixth decade) | Cancer predisposition Osteosarcoma/skin cancer | ? |
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Larizza, L.; Colombo, E.A. Interdependence between Nuclear Pore Gatekeepers and Genome Caretakers: Cues from Genome Instability Syndromes. Int. J. Mol. Sci. 2024, 25, 9387. https://doi.org/10.3390/ijms25179387
Larizza L, Colombo EA. Interdependence between Nuclear Pore Gatekeepers and Genome Caretakers: Cues from Genome Instability Syndromes. International Journal of Molecular Sciences. 2024; 25(17):9387. https://doi.org/10.3390/ijms25179387
Chicago/Turabian StyleLarizza, Lidia, and Elisa Adele Colombo. 2024. "Interdependence between Nuclear Pore Gatekeepers and Genome Caretakers: Cues from Genome Instability Syndromes" International Journal of Molecular Sciences 25, no. 17: 9387. https://doi.org/10.3390/ijms25179387