The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
Inactivation of Murine Usp1 Results in Genomic Instability and a Fanconi Anemia Phenotype
Open accessAbstract
SUMMARY Fanconi anemia (FA) is a human genetic disease characterized by chromosome instability, cancer predisposition, and cellular hypersensitivity to DNA crosslinking agents. The FA pathway regulates the repair of DNA crosslinks. A critical step in this pathway is the monoubiquitination and deubiquitination of FANCD2. Deubiquitination of FANCD2 is mediated by the ubiquitin protease, USP1. Here, we demonstrate that targeted deletion of mouse Usp1 results in elevated perinatal lethality, male infertility, crosslinker hypersensitivity, and a FA phenotype. Usp1−/− mouse embryonic fibroblasts had heightened levels of monoubiquitinated Fancd2 in chromatin. Usp1−/− cells exhibited impaired Fancd2 foci assembly and a defect in homologous recombination repair. Double knockout of Usp1 and Fancd2 resulted in a more severe phenotype than either single knockout. Our results indicate that mouse Usp1 functions downstream in the FA pathway. Deubiquitination is a critical event required for Fancd2 nuclear foci assembly, release from chromatin, and function in DNA repair.
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Citations
Cites
Interaction of the Fanconi Anemia Proteins and BRCA1 in a Common Pathway
Garcia-Higuera, I., Taniguchi, T., Ganesan, S., Meyn, M. S., Timmers, C., Hejna, J., Grompe, M., & D'Andrea, A. D. (2001) · Molecular Cell · doi:10.1016/s1097-2765(01)00173-3 · Cited by 1,198
Self-citationEmergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins
Wang, W. (2007) · Nature Reviews Genetics · doi:10.1038/nrg2159 · Cited by 663
Litman, R., Peng, M., Jin, Z., Zhang, F., Zhang, J., Powell, S., Andreassen, P. R., & Cantor, S. B. (2005) · Cancer Cell · doi:10.1016/j.ccr.2005.08.004 · Cited by 396
Human Fanconi anemia monoubiquitination pathway promotes homologous DNA repair
Nakanishi, K., Yang, Y.-G., Pierce, A. J., Taniguchi, T., Digweed, M., D'Andrea, A. D., Wang, Z.-Q., & Jasin, M. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0407796102 · Cited by 384 · cited 4×
“HR Assay For HR assay with MEFs, the DR-GFP reporter, hypoxanthine-guanine phosphoribosyl transferase-DR-GFP-hygromycin (Nakanishi et al., 2005), was integrated into the genome of Usp1 MEFs.”
InfluentialSelf-citation
Cited by
Bott, M., Brevet, M., Taylor, B. S., Shimizu, S., Ito, T., Wang, L., Creaney, J., Lake, R. A., Zakowski, M. F., Reva, B., et al. (2011) · Nature Genetics · doi:10.1038/ng.855 · Cited by 717
The Fanconi anaemia pathway: new players and new functions
Ceccaldi, R., Sarangi, P., & D'Andrea, A. D. (2016) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm.2016.48 · Cited by 720
Self-citationRegulation of DNA cross-link repair by the Fanconi anemia/BRCA pathway
Kim, H., & D'Andrea, A. D. (2012) · Genes & Development · doi:10.1101/gad.195248.112 · Cited by 508
Self-citationDrugging the undruggables: exploring the ubiquitin system for drug development
Huang, X., & Dixit, V. M. (2016) · Cell Research · doi:10.1038/cr.2016.31 · Cited by 427
Deubiquitylases From Genes to Organism
Clague, M. J., Barsukov, I., Coulson, J. M., Liu, H., Rigden, D. J., & Urbé, S. (2013) · Physiological Reviews · doi:10.1152/physrev.00002.2013 · Cited by 425
Metadata
- Authors
- Kim, J. M., Parmar, K., Huang, M., Weinstock, D. M., Ruit, C. A., Kutok, J. L., & D'Andrea, A. D.
- Venue
- Developmental Cell
- Publisher
- Elsevier BV
- Published
- 2009-02
- Volume
- 16
- Issue
- 2
- Pages
- 314-320
- ISSN
- 1534-5807 (ISSN-L)
- OpenAlex
- W1987871280
- Cited by
- 247
- References
- 4
- FWCI
- 7.68
- Type
- journal article
- Language
- en
- Open access
- bronze
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