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Human Fanconi anemia monoubiquitination pathway promotes homologous DNA repair
Open accessAbstract
Fanconi anemia (FA) is a recessive disorder characterized by congenital abnormalities, progressive bone-marrow failure, and cancer susceptibility. Cells from FA patients are hypersensitive to agents that produce DNA crosslinks and, after treatment with these agents, have pronounced chromosome breakage and other cytogenetic abnormalities. Eight FANC genes have been cloned, and the encoded proteins interact in a common cellular pathway. DNA-damaging agents activate the monoubiquitination of FANCD2, resulting in its targeting to nuclear foci that also contain BRCA1 and BRCA2/FANCD1, proteins involved in homology-directed DNA repair. Given the interaction of the FANC proteins with BRCA1 and BRCA2, we tested whether cells from FA patients (groups A, G, and D2) and mouse Fanca –/– cells with a targeted mutation are impaired for this repair pathway. We find that both the upstream (FANCA and FANCG) and downstream (FANCD2) FA pathway components promote homology-directed repair of chromosomal double-strand breaks (DSBs). The FANCD2 monoubiquitination site is critical for normal levels of repair, whereas the ATM phosphorylation site is not. The defect in these cells, however, is mild, differentiating them from BRCA1 and BRCA2 mutant cells. Surprisingly, we provide evidence that these proteins, like BRCA1 but unlike BRCA2, promote a second DSB repair pathway involving homology, i.e., single-strand annealing. These results suggest an early role for the FANC proteins in homologous DSB repair pathway choice.
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“The DR-U2OS cell line containing a single integrated copy of the DR-GFP reporter was used46,47.”
From BRCA1–BARD1 promotes RAD51-mediated homologous DNA pairing (2017) · cites this paper as [46]
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Items 101–200 of 385
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“U2OS human osteosarcoma cell lines stably transfected with a single copy of an intact DR-GFP reporter gene were used to measure the HR frequency [36].”
MethodHaynes, B. M., Saadat, N., Myung, B., & Shekhar, M. P. V. (2014) · Mutation Research/Reviews in Mutation Research · doi:10.1016/j.mrrev.2014.11.005 · Cited by 77
“In conjunction with this role, FANCD2 expression increases HRR by 2-fold and the monoubiquitination site of FANCD2 is required for this action [71].”
Ohashi, A., Zdzienicka, M. Z., Chen, J., & Couch, F. J. (2005) · Journal of Biological Chemistry · doi:10.1074/jbc.m414669200 · Cited by 80
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“To test the functionality of the mutants in HR, we performed a “protein replacement” assay, wherein endogenous PALB2 is first depleted by an siRNA and then PALB2 mutants are expressed from siRNA-resistant cDNAs, using a DR-U2OS cell line harboring a single copy of a GFP-based HR reporter (26).”
Self-citationYang, Y., Herceg, Z., Nakanishi, K., Demuth, I., Piccoli, C., Michelon, J., Hildebrand, G., Jasin, M., Digweed, M., & Wang, Z. (2005) · Carcinogenesis · doi:10.1093/carcin/bgi134 · Cited by 77
Self-citationAkt-Mediated Phosphorylation of XLF Impairs Non-Homologous End-Joining DNA Repair
Liu, P., Gan, W., Guo, C., Xie, A., Gao, D., Guo, J., Zhang, J., Willis, N. A., Su, A., Asara, J. M., et al. (2015) · Molecular Cell · doi:10.1016/j.molcel.2015.01.005 · Cited by 84
“Assays were performed as described previously (Nakanishi et al., 2005; Peng et al., 2009).”
MethodZhu, W., & Dutta, A. (2006) · Molecular and Cellular Biology · doi:10.1128/mcb.02141-05 · Cited by 79
Bae, J.-B., Mukhopadhyay, S. S., Liu, L., Zhang, N., Tan, J., Akhter, S., Liu, X., Shen, X., Li, L., & Legerski, R. J. (2008) · Oncogene · doi:10.1038/onc.2008.139 · Cited by 77
Homologous Recombination Assay for Interstrand Cross-Link Repair
Nakanishi, K., Cavallo, F., Brunet, E., & Jasin, M. (2011) · Methods in molecular biology · doi:10.1007/978-1-61779-129-1_16 · Cited by 76
“Cells deficient in Fanconi anemia pathway components are also sensitive to ICL agents (7, 8) and show defects in HR, especially HR coupled to DNA replication (9, 10).”
BackgroundSelf-citationCohn, M. A., & D’Andrea, A. D. (2008) · Molecular Cell · doi:10.1016/j.molcel.2008.10.009 · Cited by 79
“The disruption of FANCD2 (Nakanishi et al., 2005) or FANCI (Smogorzewska et al., 2007) results in a reduction of HR-mediated repair, suggesting that these proteins play a role, either directly or indirectly, in regulating the downstream function of FANCD1(BRCA2).”
Self-citationTargeted gene therapy and cell reprogramming in Fanconi anemia
Río, P., Baños, R., Lombardo, A., Bustamante, O. Q., Alvarez, L. A., Garate, Z., Genovese, P., Almarza, E., Valeri, A., Díez, B., et al. (2014) · EMBO Molecular Medicine · doi:10.15252/emmm.201303374 · Cited by 73
“…challenging taking into account the relevance of the FA pathway both in HDR (Taniguchi et al , 2002; Yamamoto et al , 2003; Niedzwiedz et al , 2004; Yang et al , 2005; Moldovan & D’Andrea, 2009; Kee & D’Andrea, 2010; Nakanishi et al , 2011; Kottemann & Smogorzewska, 2013) and cell reprogramming…”
Godthelp, B. C., Wiegant, W. W., Waisfisz, Q., Medhurst, A. L., Arwert, F., Joenje, H., & Zdzienicka, M. Z. (2005) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2005.07.008 · Cited by 75
Choi, Y. E., Pan, Y., Park, E., Konstantinopoulos, P. A., De, S., D’Andrea, A. D., & Chowdhury, D. (2014) · eLife · doi:10.7554/elife.02445 · Cited by 79
“To test whether expression of the 12 selected miRNAs impacts HR, we used a functional assay that assesses HR-mediated repair of an I-SceI-induced DSB ( Nakanishi et al., 2005 ).”
MethodSelf-citationRegulated degradation of FANCM in the Fanconi anemia pathway during mitosisPreprint
Kee, Y., Kim, J. M., & D’Andrea, A. D. (2009) · Genes & Development · doi:10.1101/gad.1761309 · Cited by 74
“Failure to monoubiquitinate FANCD2 and FANCI results in decreased efficiency of DNA cross-link repair and homologous recombination (HR) (Kennedy and D’Andrea 2005; Nakanishi et al. 2005; Smogorzewska et al. 2007).”
BackgroundSelf-citationRevisiting DNA damage repair, p53-mediated apoptosis and cisplatin sensitivity in germ cell tumors
Cavallo, F., Feldman, D. R., & Barchi, M. (2013) · The International Journal of Developmental Biology · doi:10.1387/ijdb.130135mb · Cited by 72
Direct DNA Binding Activity of the Fanconi Anemia D2 Protein
Park, W.-H., Margossian, S. P., Horwitz, A. A., Simons, A. M., D’Andrea, A. D., & Parvin, J. D. (2005) · Journal of Biological Chemistry · doi:10.1074/jbc.m503730200 · Cited by 71
Self-citationKato, Y., Alavattam, K. G., Sin, H., Meetei, A. R., Pang, Q., Andreassen, P. R., & Namekawa, S. H. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv244 · Cited by 68
“However, despite evidence for a role in somatic DNA repair and homologous recombination (HR) (31), the function of the FA pathway in the germline is largely unknown.”
BackgroundWillers, H., Gheorghiu, L., Liu, Q., Efstathiou, J. A., Wirth, L. J., Krause, M., & von Neubeck, C. (2015) · Seminars in Radiation Oncology · doi:10.1016/j.semradonc.2015.05.007 · Cited by 69
USP1 deubiquitinase maintains phosphorylated CHK1 by limiting its DDB1-dependent degradation
Guervilly, J.-H., Renaud, E., Takata, M., & Rosselli, F. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr103 · Cited by 74
Fanconi anemia pathway as a prospective target for cancer intervention
Liu, W., Palovcak, A., Li, F., Zafar, A., Yuan, F., & Zhang, Y. (2020) · Cell & Bioscience · doi:10.1186/s13578-020-00401-7 · Cited by 71
Sharma, S., Helchowski, C. M., & Canman, C. E. (2012) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2012.11.002 · Cited by 71
“Other members of the FA pathway have also been implicated in regulating or participating in HR repair [160, 178, 202–206].”
BackgroundNon-specific chemical inhibition of the Fanconi anemia pathway sensitizes cancer cells to cisplatin
Jacquemont, C. F., Simon, J. A., D’Andrea, A. D., & Taniguchi, T. (2012) · Molecular Cancer · doi:10.1186/1476-4598-11-26 · Cited by 69
“Since the FA pathway is required for efficient DNA double-strand break repair by HR [4,20], we tested whether the identified compounds affect HR efficiency in human cells using the DR-GFP reporter system [21].”
MethodSelf-citationDNA damage repair in breast cancer and its therapeutic implications
Ali, R., Rakha, E. A., Madhusudan, S., & Bryant, H. E. (2016) · Pathology · doi:10.1016/j.pathol.2016.11.002 · Cited by 66
Chen, C.-C., Kass, E. M., Yen, W.-F., Ludwig, T., Moynahan, M. E., Chaudhuri, J., & Jasin, M. (2017) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1706392114 · Cited by 64
“SSA analysis was performed as described (41).”
MethodSelf-citationInvolvement of Homologous Recombination in Carcinogenesis
Reliene, R., Bishop, A. J. R., & Schiestl, R. H. (2007) · Advances in genetics · doi:10.1016/s0065-2660(06)58003-4 · Cited by 66
C. elegans FANCD2 responds to replication stress and functions in interstrand cross-link repair
Collis, S. J., Barber, L. J., Ward, J. D., Martin, J. S., & Boulton, S. J. (2006) · DNA repair · doi:10.1016/j.dnarep.2006.06.010 · Cited by 67
Nicolae, C. M., Aho, E. R., Choe, K. N., Constantin, D., Hu, H.-J., Lee, D., Myung, K., & Moldovan, G. (2015) · Nucleic Acids Research · doi:10.1093/nar/gkv147 · Cited by 70
“SupF assays for measuring mutagenesis frequency (44) and HR assays using the DR-GFP reporter (45) were performed as previously described.”
MethodGuervilly, J.-H., Macé‐Aimé, G., & Rosselli, F. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm340 · Cited by 62
“In contrast, FANCD2 monoubiquitination seems mainly involved in DNA repair and HR (44).”
NUCKS1 is a novel RAD51AP1 paralog important for homologous recombination and genome stability
Parplys, A. C., Zhao, W., Sharma, N., Groesser, T., Liang, F., Maranon, D. G., Leung, S. G., Grundt, K., Dray, E. V., Idate, R., et al. (2015) · Nucleic Acids Research · doi:10.1093/nar/gkv859 · Cited by 65
Defining the mutation signatures of DNA polymerase θ in cancer genomes
Hwang, T., Reh, S., Dunbayev, Y., Zhong, Y., Takata, Y., Shen, J., McBride, K. M., Murnane, J. P., Bhak, J., Lee, S., et al. (2020) · NAR Cancer · doi:10.1093/narcan/zcaa017 · Cited by 63
“We thank Dr Pamela J. Whitney for cell cycle analysis, Dr Maria Jasin (Memorial Sloan Kettering Cancer Center) for the gift of DR-U2OS cell line, Dr Jean-Sébastien Hoffmann (CRCT) for the gift of POLQ-specific antibody 1B1, and Dr Dale A. Ramsden and Dr Juan C. Garcia (UNC) for the initial consultation for sequence d…”
BackgroundMethodInfluentialThe Fanconi anemia pathway and ubiquitin
Jacquemont, C. F., & Taniguchi, T. (2007) · BMC Biochemistry · doi:10.1186/1471-2091-8-s1-s10 · Cited by 63
“FANCD1/BRCA2- and FANCN/PALB2-deficient cells have a clear defect in RAD51 foci formation and HR efficiency [23,32,57,61-63].”
BackgroundSelf-citationThe concerted roles of FANCM and Rad52 in the protection of common fragile sites
Wang, H., Li, S., Oaks, J. J., Ren, J., Li, L., & Wu, X. (2018) · Nature Communications · doi:10.1038/s41467-018-05066-y · Cited by 64
Anantha, R. W., Alcivar, A. L., Ma, J., Cai, H., Simhadri, S. R., Ule, J., König, J., & Xia, B. (2013) · PLoS ONE · doi:10.1371/journal.pone.0061368 · Cited by 65
Lopez‐Roques, C., Coulombe, Y., Delannoy, M., Vignard, J., Grossi, S., Brodeur, I., Rodrigue, A., Gautier, J., Stasiak, A. Z., Stasiak, A., et al. (2009) · The EMBO Journal · doi:10.1038/emboj.2009.193 · Cited by 64
“As the level of homology-directed repair in FA patient- derived cell line is mild (Nakanishi et al, 2005), we do not think that FANCD2 is essential for repair by homologous recombination.”
BackgroundChoi, Y. E., Battelli, C., Watson, J., Liu, J. F., Curtis, J. D., Morse, A., Matulonis, U. A., Chowdhury, D., & Konstantinopoulos, P. A. (2014) · Oncotarget · doi:10.18632/oncotarget.1929 · Cited by 60
“To further confirm the results of the RAD51 foci formation assay we used the Direct Repeat-GFP (DRGFP) reporter system previously developed to assay HR in mammalian cells [17, 18].”
MethodTherapeutic gene editing in CD34+ hematopoietic progenitors from Fanconi anemia patients
Díez, B., Genovese, P., Roman‐Rodriguez, F. J., Alvarez, L. A., Schiroli, G., Ugalde, L., Rodríguez, S., Sevilla, J., de Heredia, C. D., Holmes, M. C., et al. (2017) · EMBO Molecular Medicine · doi:10.15252/emmm.201707540 · Cited by 59
“Our results in this new study confirm in LCLs from four different FA-A patients the feasibility of conducting gene editing, even with a non-therapeutic donor that only carries a reporter EGFP transgene, demonstrating for the first time that FANCA is not essential for the HDR-mediated editing of the human genome.”
BackgroundResultInfluentialThe Fanconi anemia pathway and ICL repair: implications for cancer therapy
Wang, L. C., & Gautier, J. (2010) · Critical Reviews in Biochemistry and Molecular Biology · doi:10.3109/10409238.2010.502166 · Cited by 63
“, 2004), other FA cells show a milder HDR defect (Hirano et al., 2005; Nakanishi et al., 2005; Niedzwiedz et al., 2004; Yamamoto et al., 2005; Yamamoto et al., 2003; Yang et al., 2005).”
BackgroundSakamoto, S., Iijima, K., Mochizuki, D., Nakamura, K., Teshigawara, K., Kobayashi, J., Matsuura, S., Tauchi, H., & Komatsu, K. (2007) · Oncogene · doi:10.1038/sj.onc.1210428 · Cited by 58
“The HR ability was compared with NHEJ in NBS and A-T cells, as described by others (Nakanishi et al., 2005).”
ResultBCR-ABL promotes the frequency of mutagenic single-strand annealing DNA repair
Fernandes, M. S., Reddy, M. M., Gonneville, J. R., DeRoo, S. C., Podar, K., Griffin, J. D., Weinstock, D. M., & Sattler, M. (2009) · Blood · doi:10.1182/blood-2008-07-172148 · Cited by 60
Palle, K., & Vaziri, C. (2011) · Cell Cycle · doi:10.4161/cc.10.10.15617 · Cited by 59
“Interestingly, chromatin binding of Rad51 was also affected by FANCD2 depletion, most likely because of the proposed role of FANCD2 in promoting HR. 47,48 Consistent with failure of Rad18-and FANCD2-depleted cells to resume DNA synthesis, chromatin levels of replication markers such as Cdc45 and PCNA and Mcm7 also dec…”
InfluentialArabidopsis thaliana FANCD2 Promotes Meiotic Crossover Formation
Kurzbauer, M.-T., Pradillo, M., Kerzendorfer, C., Sims, J., Ladurner, R., Oliver, C., Janisiw, M. P., Mosiołek, M., Schweizer, D., Copenhaver, G. P., et al. (2018) · The Plant Cell · doi:10.1105/tpc.17.00745 · Cited by 64
Mechanisms of damage tolerance and repair during DNA replication
Ashour, M. E., & Mosammaparast, N. (2021) · Nucleic Acids Research · doi:10.1093/nar/gkab101 · Cited by 65
Houghtaling, S. R., Newell, A. H., Akkari, Y. M. N., Taniguchi, T., Olson, S. B., & Grompe, M. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi334 · Cited by 57
“A number of recent experiments using reporter-based repair substrates have suggested that Fancd2 functions in HDR of DSBs (32,33,35).”
BackgroundSelf-citationDatta, A., & Brosh, R. M. (2019) · Genes · doi:10.3390/genes10020170 · Cited by 56
“In agreement with this notion, ERCC1-/- mouse embryonic fibroblast cells (MEFs) display accumulation of DSBs upon ICL induction [61].”
BackgroundInfluentialA novel role for non-ubiquitinated FANCD2 in response to hydroxyurea-induced DNA damage
Chen, X., Bosques, L., Sung, P., & Kupfer, G. M. (2015) · Oncogene · doi:10.1038/onc.2015.68 · Cited by 57
Reyngold, M., Nandula, S. V., Modi, A. P., Wang, S., Jasin, M., Murty, V. V. V. S., Ludwig, T., & Baer, R. J. (2007) · Journal of Biological Chemistry · doi:10.1074/jbc.m705198200 · Cited by 56
Self-citationREV1 and DNA polymerase zeta in DNA interstrand crosslink repair
Sharma, S., & Canman, C. E. (2012) · Environmental and Molecular Mutagenesis · doi:10.1002/em.21736 · Cited by 56
“Other members of the FA pathway have also been implicated in regulating or participating in HR repair [Niedzwiedz et al., 2004; Nakanishi et al., 2005; Yamamoto et al., 2005; Smogorzewska et al., 2007; Zhang et al., 2007; Kratz et al., 2010; Pace et al., 2010].”
BackgroundTargeting and processing of site‐specific DNA interstrand crosslinks
Vásquez, K. M. (2010) · Environmental and Molecular Mutagenesis · doi:10.1002/em.20557 · Cited by 53
“…extreme sensitivity to ICLs (Grompe and D’Andrea 2001; Papadopoulo et al. ; Poll et al. 1984), and some FA pathway proteins also play roles in HR (Nakanishi et al. 2005; Niedzwiedz et al. 2004; Thompson et al. 2005); see other reviews in this issue for potential roles of FA proteins in ICL…”
BackgroundHSV-I and the Cellular DNA Damage Response
Smith, S., & Weller, S. K. (2015) · Future Virology · doi:10.2217/fvl.15.18 · Cited by 52
Crucial roles of the BRCA1-BARD1 E3 ubiquitin ligase activity in homology-directed DNA repair
Wang, M., Li, W., Tomimatsu, N., Yu, C. H., Ji, J., Alejo, S., Witus, S. R., Alimbetov, D. S., Fitzgerald, O. R., Wu, B., et al. (2023) · Molecular Cell · doi:10.1016/j.molcel.2023.09.015 · Cited by 50
Alternative Pathways for the Repair of RAG-Induced DNA Breaks
Weinstock, D. M., & Jasin, M. (2005) · Molecular and Cellular Biology · doi:10.1128/mcb.26.1.131-139.2006 · Cited by 54
“DR-GFP, which was cut with HindIII/BamHI, as previously described (31).”
MethodSelf-citationNo formation of DNA double-strand breaks and no activation of recombination repair with UVA
Rizzo, J. L., Dunn, J., Rees, A., & Rünger, T. M. (2011) · Journal of Investigative Dermatology · doi:10.1038/jid.2010.365 · Cited by 50
“The fact that this pathway mediates recombination repair (Joenje and Patel, 2001; Bogliolo et al., 2002; Taniguchi et al., 2002; D’Andrea and Grompe, 2003; Gregory et al., 2003; Kennedy and D’Andrea, 2005; Nakanishi et al., 2005; Thompson et al., 2005; Wang, 2007) suggests that recombination repair is not involved in…”
BackgroundInfluentialShahar, O. D., Edupuganti, R. R., Shimshoni, E., Hareli, S., Meshorer, E., & Goldberg, M. (2011) · Oncogene · doi:10.1038/onc.2011.516 · Cited by 59
“This is likely to be the case, since the detection of nonaccurate repair products in previous studies was subsequent to PCR amplification, thereby even if few such non-accurate molecules are generated they will be detected (Nakanishi et al., 2005).”
Ionizing radiation and genetic risks
Sankaranarayanan, K., & Wassom, J. S. (2005) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2005.06.020 · Cited by 52
Tetratricopeptide-motif-mediated interaction of FANCG with recombination proteins XRCC3 and BRCA2
Hussain, S., Wilson, J. B., Blom, E., Thompson, L. H., Sung, P., Gordon, S. M., Kupfer, G. M., Joenje, H., Mathew, C. G., & Jones, N. J. (2006) · DNA repair · doi:10.1016/j.dnarep.2006.02.007 · Cited by 51
RECQ1 plays a distinct role in cellular response to oxidative DNA damage
Sharma, S., Phatak, P., Stortchevoi, A., Jasin, M., & LaRocque, J. R. (2012) · DNA repair · doi:10.1016/j.dnarep.2012.04.003 · Cited by 50
“RECQ1 does not play a direct role in homologous recombination repair of DNA double-strand breaks A. DR-U2OS cells were transfected with control or RECQ1 siRNA twice.”
BackgroundInfluentialSelf-citationFanconi anemia proteins and endogenous stresses
Pang, Q., & Andreassen, P. R. (2009) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2009.03.013 · Cited by 49
Functional Connection between Rad51 and PML in Homology-Directed Repair
Boichuk, S., Hu, L., Makielski, K. R., Pandolfi, P. P., & Gjoerup, O. V. (2011) · PLoS ONE · doi:10.1371/journal.pone.0025814 · Cited by 52
“To further investigate this possibility, we used DR-U2OS cells that harbor a single chromosomally integrated HR reporter construct (DR-GFP) used in several previous studies [32,33,34] (Fig.”
BackgroundMethodFANCD2 limits BLM-dependent telomere instability in the alternative lengthening of telomeres pathway
Root, H., Larsen, A. C., Komosa, M., Al-Azri, F., Li, R., Bazett‐Jones, D. P., & Meyn, M. S. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw175 · Cited by 49
“Unlike BLM, FANCD2 does not appear to be a canonical repair factor, but functions in a context dependent manner (33,34).”
BackgroundPal, D., Pertot, A., Shirole, N. H., Yao, Z., Anaparthy, N., Garvin, T. H., Cox, H., Chang, K., Rollins, F., Kendall, J., et al. (2017) · eLife · doi:10.7554/elife.21615 · Cited by 50
“reporter system (the DR-GFP reporter system) to further investigate the possibility that TGF-b exposure could result in defects in DNA repair (Figure 4H) (Pierce et al., 1999; Nakanishi et al., 2005; Gunn and Stark, 2012).”
Fanconi Anemia Proteins, DNA Interstrand Crosslink Repair Pathways, and Cancer Therapy
Andreassen, P. R., & Ren, K. (2009) · Current Cancer Drug Targets · doi:10.2174/156800909787314011 · Cited by 50
“Although FA proteins do not appear to have an integral role in cell cycle checkpoint function, evidence exists for a role in DNA repair [150, 169, 178, 187-189].”
BackgroundSiegner, S. M., Ugalde, L., Clemens, A., García‐García, L., Bueren, J. A., Río, P., Karasu, M. E., & Corn, J. E. (2022) · Nature Communications · doi:10.1038/s41467-022-34479-z · Cited by 51
The Fanconi anemia pathway limits the severity of mutagenesis
Hinz, J. M., Nham, P. B., Salazar, E. P., & Thompson, L. H. (2006) · DNA repair · doi:10.1016/j.dnarep.2006.05.039 · Cited by 47
Hypoxic Stress Facilitates Acute Activation and Chronic Downregulation of Fanconi Anemia Proteins
Scanlon, S. E., & Glazer, P. M. (2014) · Molecular Cancer Research · doi:10.1158/1541-7786.mcr-13-0628 · Cited by 45
“Furthermore, the FA proteins are known to promote homologous recombination and single-strand annealing (48), suggesting that their downregulation may also contribute to the repression of DNA DSB repair observed under hypoxia (16).”
BackgroundInherited Cancer Syndromes in Children and Young Adults
D'Orazio, J. A. (2010) · Journal of Pediatric Hematology/Oncology · doi:10.1097/mph.0b013e3181ced34c · Cited by 45
“In this manner, the FANC pathway protects the integrity of the genome and promotes errorfree DNA replication.(361,362) Genotype-phenotype correlations may depend on whether the particular mutation is null in any given FA patient or whether partial gene function remains.”
BackgroundFANCD2 associated with sporadic breast cancer risk
Barroso, E. (2006) · Carcinogenesis · doi:10.1093/carcin/bgl062 · Cited by 45
FANCD2 and REV1 cooperate in the protection of nascent DNA strands in response to replication stress
Yang, Y., Liu, Z., Wang, F., Temviriyanukul, P., Ma, X., Tu, Y., Lv, L., Lin, Y., Huang, M., Zhang, T., et al. (2015) · Nucleic Acids Research · doi:10.1093/nar/gkv737 · Cited by 46
Self-citationHenson, S. E., Tsai, S.-C., Malone, C. S., Soghomonian, S. V., Ouyang, Y., Wall, R., Marahrens, Y., & Teitell, M. A. (2006) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2006.06.016 · Cited by 40
Pfäffle, H. N., Wang, M., Gheorghiu, L., Ferraiolo, N., Greninger, P., Borgmann, K., Settleman, J. E., Benes, C. H., Sequist, L. V. D., Zou, L., et al. (2013) · Cancer Research · doi:10.1158/0008-5472.can-13-0044 · Cited by 43
“The FA proteins are closely linked to HRR via multiple mechanisms, and FA defects can be associated with reduced homology-mediated repair of DSB and impaired RAD51 foci formation (13, 28-30).”
Dunn, J., Potter, M., Rees, A., & Rünger, T. M. (2006) · Cancer Research · doi:10.1158/0008-5472.can-06-0563 · Cited by 42
“It has been suggested that the activation of the FA/BRCA pathway mediates DNA repair through homologous recombination (3, 7, 8, 10, 13, 15 , 16).”
BackgroundRegulation and roles of Cdc7 kinase under replication stress
Yamada, M., Masai, H., & Bártek, J. (2014) · Cell Cycle · doi:10.4161/cc.29251 · Cited by 42
Functional Interplay between BRCA2/FancD1 and FancC in DNA Repair
Kitao, H., Yamamoto, K., Matsushita, N., Ohzeki, M., Ishiai, M., & Takata, M. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.m603290200 · Cited by 42
Repair at Single Targeted DNA Double-Strand Breaks in Pluripotent and Differentiated Human Cells
Fung, H., & Weinstock, D. M. (2011) · PLoS ONE · doi:10.1371/journal.pone.0020514 · Cited by 41
“HEK293, MCF7 and U2OS cells containing untargeted DR-GFP and mESCs containing HPRT-targeted DR-GFP were provided by Maria Jasin (Sloan-Kettering Institute) and were previously described [7,47,48].”
MethodAdvances in Gene Therapy for Fanconi Anemia
Rı́o, P., Navarro, S., & Bueren, J. A. (2018) · Human Gene Therapy · doi:10.1089/hum.2018.124 · Cited by 41
“114 Thus, the question of whether or not gene editing in FA cells could be feasible has long remained unclear.”
Esteban‐Medina, M., Peña-Chilet, M., Loucera, C., & Dopazo, J. (2019) · BMC Bioinformatics · doi:10.1186/s12859-019-2969-0 · Cited by 43
“Signaling is known to play a relevant role in the disease and also defines its most characteristic hallmark: failure of DNA repair [28, 29].”
BackgroundFANCD1/BRCA2 Plays Predominant Role in the Repair of DNA Damage Induced by ACNU or TMZ
Kondo, N., Takahashi, A., Mori, E., Noda, T., Zdzienicka, M. Z., Thompson, L. H., Helleday, T., Suzuki, M., Kinashi, Y., Masunaga, S., et al. (2011) · PLoS ONE · doi:10.1371/journal.pone.0019659 · Cited by 42
“Other previous studies reported FA pathway promotes HRR [14,15,20–22].”
BackgroundResultPessetto, Z. Y., Yan, Y., Bessho, T., & Natarajan, A. (2012) · Breast Cancer Research and Treatment · doi:10.1007/s10549-012-2079-4 · Cited by 42
“To determine the effect of inhibitor 2 on HR we conducted the same experiment with and without 2 [6].”
Dysfunctional telomeres in primary cells from Fanconi anemia FANCD2 patients
Joksić, I., Vujić, D., Guć‐Šćekić, M., Leskovac, A. R., Petrović, S. Ž., Ojani, M., Trujillo‐Quintero, J. P., Surrallés, J., Živković, M., Stanković, A., et al. (2012) · Genome Integrity · doi:10.1186/2041-9414-3-6 · Cited by 43
“Nakanishi and colleagues [40] provide evidence that cells derived from FANCA, FANCG and FANCD2 patients are defective, to a mild degree in HR.”
BackgroundRaghunandan, M., Yeo, J. E., Walter, R., Saito, K., Harvey, A. J., Ittershagen, S., Lee, E., Yang, J., Hoatlin, M. E., Bielinsky, A., et al. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddz250 · Cited by 40
“In addition to its HR functions at stalled replication forks, FANCD2 also plays a key role in promoting the HR-directed repair of directly induced DNA DSBs (33, 34).”
BackgroundInfluentialDNA Structure-Induced Recruitment and Activation of the Fanconi Anemia Pathway Protein FANCD2
Sobeck, A., Stone, S., & Hoatlin, M. E. (2007) · Molecular and Cellular Biology · doi:10.1128/mcb.02196-06 · Cited by 39
“In addition, involvement of the FA proteins in DNA DSB repair via single-strand annealing and nonhomologous end joining has been suggested (10, 11, 26, 36).”
BackgroundAttenuating homologous recombination stimulates an AID-induced antileukemic effect
Lamont, K. R., Hasham, M. G., Donghia, N. M., Branca, J. A., Chavaree, M., Chase, B., Breggia, A., Hedlund, J. A., Emery, I. F., Cavallo, F., et al. (2013) · The Journal of Experimental Medicine · doi:10.1084/jem.20121258 · Cited by 40
Self-citationLoss of the transforming growth factor‐β effector β2‐Spectrin promotes genomic instability
Chen, J., Shukla, V., Farci, P., Andricovich, J., Jogunoori, W. S., Kwong, L. N., Katz, L. H., Shetty, K., Rashid, A., Su, X., et al. (2016) · Hepatology · doi:10.1002/hep.28927 · Cited by 39
Thompson, E. L., Yeo, J. E., Lee, E.-A., Kan, Y., Raghunandan, M., Wiek, C., Hanenberg, H., Schärer, O. D., Hendrickson, E. A., & Sobeck, A. (2017) · Nucleic Acids Research · doi:10.1093/nar/gkx847 · Cited by 39
“Importantly, however, the residual FANCD2 chromatin binding in FANCI-deficient cells did not alleviate their ICL sensitivity, reinforcing the model of a linear FA ICL repair pathway, where the FANCI-dependent FANCD2 monoubiquitination is crucial for cellular ICL resistance (12,14,44,69) (Figure 8A).”
BackgroundNoda, T., Takahashi, A., Kondo, N., Mori, E., Okamoto, N., Nakagawa, Y., Ohnishi, K., Zdzienicka, M. Z., Thompson, L. H., Helleday, T., et al. (2010) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2010.11.094 · Cited by 39
Wang, H., Lee, A. Y., Chou, W., Wu, C., Tseng, C., Liu, K. Y.-T., Lin, W.-L., Chang, F., Chuang, D., Hunyadi, A., et al. (2012) · Molecular Cancer Therapeutics · doi:10.1158/1535-7163.mct-11-0921 · Cited by 39
“ATR and its targets, such as Chk1, FANCD2, and WRN, are required to repair cells damaged during the S-phase via HRR (26, 29, 40, 41).”
BackgroundAssessing the Link between BACH1 and BRCA1 in the FA Pathway
Cantor, S. B., & Andreassen, P. R. (2005) · Cell Cycle · doi:10.4161/cc.5.2.2338 · Cited by 39
Akt1 inhibits homologous recombination in Brca1-deficient cells by blocking the Chk1-Rad51 pathway
Jia, Y., Song, W. M., Zhang, F., Yan, J., & Yang, Q. (2012) · Oncogene · doi:10.1038/onc.2012.211 · Cited by 37
C. elegans: A model of Fanconi anemia and ICL repair
Youds, J. L., Barber, L. J., & Boulton, S. J. (2008) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2008.11.007 · Cited by 37
Rad5-dependent DNA Repair Functions of the Saccharomyces cerevisiae FANCM Protein Homolog Mph1
Daee, D. L., Ferrari, E., Longerich, S., Zheng, X.-F., Xue, X., Branzei, D., Sung, P., & Myung, K. (2012) · Journal of Biological Chemistry · doi:10.1074/jbc.m112.369918 · Cited by 36
Protein-lysine methyltransferases G9a and GLP1 promote responses to DNA damage
Ginjala, V., Rodriguez-Colon, L., Ganguly, B., Gangidi, P., Gallina, P., Al-hraishawi, H., Kulkarni, A., Tang, J., Gheeya, J., Simhadri, S. R., et al. (2017) · Scientific Reports · doi:10.1038/s41598-017-16480-5 · Cited by 38
RADX controls RAD51 filament dynamics to regulate replication fork stability
Adolph, M. B., Mohamed, T. M., Balakrishnan, S., Xue, C., Morati, F., Modesti, M., Greene, E. C., Chazin, W., & Cortez, D. (2021) · Molecular Cell · doi:10.1016/j.molcel.2020.12.036 · Cited by 36
“GFP assays—DR-GFP U2OS reporter cells were used as described previously (Nakanishi et al., 2005).”
MethodFanconi Anemia: Causes and Consequences of Genetic Instability
Kalb, R., Neveling, K., Nanda, I., Schindler, D., & Hoehn, H. (2006) · KARGER eBooks · doi:10.1159/000092510 · Cited by 35
The Fanconi anemia ID2 complex: Dueling saxes at the crossroads
Boisvert, R. A., & Howlett, N. G. (2014) · Cell Cycle · doi:10.4161/15384101.2014.956475 · Cited by 38
“Knockdown of either FANCD2 or FANCI, as well as mutation of FANCD2 K561 or FANCI K523, which precludes the covalent attachment of ubiquitin, leads to decreased HR efficiency.(9,10,44) Taken together, this Figure 1.”
BackgroundMethodVriend, L. E. M., Jasin, M., & Krawczyk, P. M. (2014) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/b978-0-12-801185-0.00009-x · Cited by 35
“(Note: HEK293 DR-GFP cells have been developed, Nakanishi et al., 2005).”
BackgroundSelf-citationRego, M. A., Harney, J. A., Mauro, M., Shen, M., & Howlett, N. G. (2011) · Oncogene · doi:10.1038/onc.2011.237 · Cited by 37
“promotes error-free conservative homologous recombination DNA repair (Garcia-Higuera et al., 2001; Wang et al., 2004; Nakanishi et al., 2005).”
Cukras, S., Morffy, N., Ohn, T., & Kee, Y. (2014) · PLoS ONE · doi:10.1371/journal.pone.0101844 · Cited by 36
“The U2OS cell line expressing an integrated homologous recombination reporter DR-GFP has been described [43], and the U2OS cell line expressing the NHEJ reporter was obtained from Dr.”
MethodA requirement of FancL and FancD2 monoubiquitination in DNA repair
Seki, S., Ohzeki, M., Uchida, A., Hirano, S., Matsushita, N., Kitao, H., Oda, T., Yamashita, T., Kashihara, N., Tsubahara, A., et al. (2007) · Genes to Cells · doi:10.1111/j.1365-2443.2007.01054.x · Cited by 35
“These results suggest that FancD2 monoubiquitination is essential for the activity of FancD2 in HR-mediated repair, and that the FancD2 K563R mutant protein has essentially no residual activity for the repair of chromosomal DSBs by HR.”
BackgroundInfluentialFerrer, M., Rodríguez, J. A., Spierings, E. A., de Winter, J. P., Giaccone, G., & Kruyt, F. A. E. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi138 · Cited by 34
Structural basis of the fanconi anemia-associated mutations within the FANCA and FANCG complex
Jeong, E.-Y., Lee, S.-G., Kim, H.-S., Yang, J., Shin, J. W., Kim, Y., Kim, J., Schärer, O. D., Kim, Y., Yeo, J.-E., et al. (2020) · Nucleic Acids Research · doi:10.1093/nar/gkaa062 · Cited by 33
“The first feature is dimerization of FANCA CTD, which, in addition to a possible role in FA core complex formation, has been suggested to be important for the reported SSA and SSE activities of FANCA (9,12,28).”
BackgroundmiR-21-mediated Radioresistance Occurs via Promoting Repair of DNA Double Strand Breaks
Hu, B., Wang, X., Hu, S., Ying, X., Wang, P., Zhang, X., Wang, J., Wang, H., & Wang, Y. (2017) · Journal of Biological Chemistry · doi:10.1074/jbc.m116.772392 · Cited by 34
Retracted
Metadata
- Authors
- Nakanishi, K., Yang, Y.-G., Pierce, A. J., Taniguchi, T., Digweed, M., D'Andrea, A. D., Wang, Z.-Q., & Jasin, M.
- Affiliations
- Memorial Sloan Kettering Cancer Center (US)
- Molecular Biology Program, Memorial Sloan–Kettering Cancer Center, 1275 York Avenue, New York, NY 10021; International Agency for Research on Cancer, 150 Cours Albert Thomas, 69008 Lyon, France; Department of Radiation Oncology, Dana–Farber Cancer Institute, Harvard Medical School, 44 Binney Street, Boston, MA 02115; and Institut für Humangenetik, Charite-Campus Virchow-Klinikum, Humboldt Universität zu Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
- Corresponding author
- Jasin, Maria
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2005-01-13
- Volume
- 102
- Issue
- 4
- Pages
- 1110-1115
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC545844
- OpenAlex
- W2029164849
- Cited by
- 384
- References
- 42
- Citations by year
- 2026: 5 · 2025: 7 · 2024: 11 · 2023: 10 · 2022: 7 · 2021: 15 · 2020: 12 · 2019: 12 · 2018: 11 · 2017: 24 · 2016: 13 · 2015: 25 · 2014: 22 · 2013: 10 · 2012: 26
- FWCI
- 12.67
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Fanconi Anemia Research Fund
- National Institutes of Health
- National Cancer Institute (P01-CA94060, P01CA094060)
- National Institute of General Medical Sciences (R01GM054668, GM54668)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Health Sciences › Medicine › Hematology › Blood disorders and treatments
- Health Sciences › Medicine › Oncology › PARP inhibition in cancer therapy
- Keywords
- Fanconi anemia, FANCD2 monoubiquitination, homology-directed repair, DNA double-strand break repair, single-strand annealing, BRCA1, BRCA2, FANCA, FANCG, ATM phosphorylation, DNA repair pathway choice
- MeSH terms
- Cell Line, DNA Repair, Humans, Nuclear Proteins, Recombination, Genetic, Ubiquitin, Fanconi Anemia Complementation Group D2 Protein
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