The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair
Open accessAbstract
Chronic kidney disease (CKD) represents a major health burden. Its central feature of renal fibrosis is not well understood. By exome sequencing, we identified mutations in FAN1 as a cause of karyomegalic interstitial nephritis (KIN), a disorder that serves as a model for renal fibrosis. Renal histology in KIN is indistinguishable from that of nephronophthisis, except for the presence of karyomegaly. The FAN1 protein has nuclease activity and acts in DNA interstrand cross-link (ICL) repair within the Fanconi anemia DNA damage response (DDR) pathway. We show that cells from individuals with FAN1 mutations have sensitivity to the ICL-inducing agent mitomycin C but do not exhibit chromosome breakage or cell cycle arrest after diepoxybutane treatment, unlike cells from individuals with Fanconi anemia. We complemented ICL sensitivity with wild-type FAN1 but not with cDNA having mutations found in individuals with KIN. Depletion of fan1 in zebrafish caused increased DDR, apoptosis and kidney cysts. Our findings implicate susceptibility to environmental genotoxins and inadequate DNA repair as novel mechanisms contributing to renal fibrosis and CKD.
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Cites
Accurate whole human genome sequencing using reversible terminator chemistry
Bentley, D. R., Balasubramanian, S., Swerdlow, H. P., Smith, G. P., Milton, J., Brown, C. G., Hall, K. P., Evers, D. J., Barnes, C. L., Bignell, H. R., et al. (2008) · Nature · doi:10.1038/nature07517 · Cited by 3,684
Hildebrandt, F., Benzing, T., & Katsanis, N. (2011) · New England Journal of Medicine · doi:10.1056/nejmra1010172 · Cited by 1,331
Self-citationSimons, M., Gloy, J., Ganner, A., Bullerkotte, A., Bashkurov, M., Krönig, C., Schermer, B., Benzing, T., Cabello, O. A., Jenny, A., et al. (2005) · Nature Genetics · doi:10.1038/ng1552 · Cited by 767
Cited by
Causes and consequences of replication stress
Zeman, M. K., & Cimprich, K. A. (2014) · Nature Cell Biology · doi:10.1038/ncb2897 · Cited by 2,079
Fibrosis–a common pathway to organ injury and failure
Rockey, D. C., Bell, P. D., & Hill, J. A. (2015) · New England Journal of Medicine · doi:10.1056/nejmra1300575 · Cited by 1,428
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
Wang, A. T., Kim, T., Wagner, J. E., Conti, B. A., Lach, F. P., Huang, A. L., Molina, H., Sanborn, E. M., Zierhut, H., Cornes, B. K., et al. (2015) · Molecular Cell · doi:10.1016/j.molcel.2015.07.009 · Cited by 273
Self-citationProximal tubule ATR regulates DNA repair to prevent maladaptive renal injury responses
Kishi, S., Brooks, C. R., Taguchi, K., Ichimura, T., Mori, Y., Akinfolarin, A., Gupta, N., Galichon, P., Elias, B. C., Suzuki, T., et al. (2019) · Journal of Clinical Investigation · doi:10.1172/jci122313 · Cited by 117
Metadata
- Authors
- Zhou, W., Otto, E. A., Cluckey, A., Airik, R., Hurd, T. W., Chaki, M., Diaz, K., Lach, F. P., Bennett, G. R., Gee, H. Y., Ghosh, A. K., Natarajan, S., Thongthip, S., Veturi, U., Allen, S. J., Janssen, S., Ramaswami, G., Dixon, J., Burkhalter, F., Spoendlin, M., Moch, H., Mihatsch, M. J., Verine, J., Reade, R., Soliman, H., Godin, M., Kiss, D., Monga, G., Mazzucco, G., Amann, K., Artunc, F., Newland, R. C., Wiech, T., Zschiedrich, S., Huber, T. B., Friedl, A., Slaats, G. G., Joles, J. A., Goldschmeding, R., Washburn, J., Giles, R. H., Levy, S., Smogorzewska, A., & Hildebrandt, F.
- Venue
- Nature Genetics
- Published
- 2012-07-08
- Volume
- 44
- Issue
- 8
- Pages
- 910-915
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1991069902
- Cited by
- 243
- References
- 3
- FWCI
- 8.48
- Type
- journal article
- Language
- en
- Open access
- green
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- Zhou, W., Otto, E. A., Cluckey, A., Airik, R., Hurd, T. W., Chaki, M., Diaz, K., Lach, F. P., Bennett, G. R., Gee, H. Y., Ghosh, A. K., Natarajan, S., Thongthip, S., Veturi, U., Allen, S. J., Janssen, S., Ramaswami, G., Dixon, J., Burkhalter, F., . . . Hildebrandt, F. (2012). FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair. Nature Genetics. https://doi.org/10.1038/ng.2347
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
