Impaired FANCD2 monoubiquitination and hypersensitivity to camptothecin uniquely characterize Fanconi anemia complementation group M
| العنوان: | Impaired FANCD2 monoubiquitination and hypersensitivity to camptothecin uniquely characterize Fanconi anemia complementation group M |
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| المؤلفون: | Sheba Agarwal, Paul R. Andreassen, Thiyam Ramsing Singh, Elke Grassman, Michael Jansen, Qiang Fan, Hans Joenje, Abdullah Mahmood Ali, Barbara C. Godthelp, Martin A. Rooimans, Amom Ruhikanta Meetei, Kebola Wahengbam, David A. Williams, Chang-hu Du, Sietske T. Bakker, Jurgen Steltenpool, Johan P. de Winter |
| المساهمون: | Internal medicine, Human genetics, Pediatric surgery, CCA - Oncogenesis |
| المصدر: | Blood, 114(1), 174-180. American Society of Hematology Singh, T R, Bakker, S D, Agarwal, S, Jansen, M H A, Grassman, E, Godthelp, B C, Ali, A M, Du, C, Rooimans, M A, Fan, Q, Wahengbam, K, Steltenpool, J, Andreassen, P R, Williams, D J, Joenje, H, de Winter, J P & Meetei, AR 2009, ' Impaired FANCD2 monoubiquitination and hypersensitivity to camptothecin uniquely characterize Fanconi anemia complementation group M ', Blood, vol. 114, no. 1, pp. 174-180 . https://doi.org/10.1182/blood-2009-02-207811 |
| سنة النشر: | 2009 |
| مصطلحات موضوعية: | congenital, hereditary, and neonatal diseases and abnormalities, Ultraviolet Rays, medicine.drug_class, Immunology, Mutant, Drug Resistance, Gene Expression, Biology, Transfection, medicine.disease_cause, Radiation Tolerance, Biochemistry, Red Cells, Iron, and Erythropoiesis, Fanconi anemia, Cell Line, Tumor, hemic and lymphatic diseases, FANCD2, medicine, Humans, FANCM, Adenosine Triphosphatases, Mutation, Fanconi Anemia Complementation Group A Protein, Fanconi Anemia Complementation Group D2 Protein, DNA Helicases, Ubiquitination, nutritional and metabolic diseases, Cell Biology, Hematology, medicine.disease, Molecular biology, Recombinant Proteins, FANCA, Complementation, Cross-Linking Reagents, Fanconi Anemia, Camptothecin, Topoisomerase inhibitor |
| الوصف: | FANCM is a component of the Fanconi anemia (FA) core complex and one FA patient (EUFA867) with biallelic mutations in FANCM has been described. Strikingly, we found that EUFA867 also carries biallelic mutations in FANCA. After correcting the FANCA defect in EUFA867 lymphoblasts, a “clean” FA-M cell line was generated. These cells were hypersensitive to mitomycin C, but unlike cells defective in other core complex members, FANCM−/− cells were proficient in monoubiquitinating FANCD2 and were sensitive to the topoisomerase inhibitor camptothecin, a feature shared only with the FA subtype D1 and N. In addition, FANCM−/− cells were sensitive to UV light. FANCM and a C-terminal deletion mutant rescued the cross-linker sensitivity of FANCM−/− cells, whereas a FANCM ATPase mutant did not. Because both mutants restored the formation of FANCD2 foci, we conclude that FANCM functions in an FA core complex–dependent and –independent manner. |
| تدمد: | 0006-4971 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::795792d2cc400278055d9fda2000a301 https://research.vumc.nl/en/publications/1c5e8386-2198-4c1a-afa6-1e2547adb54b |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....795792d2cc400278055d9fda2000a301 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 00064971 |
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