Assessing the link between BACH1/FANCJ and MLH1 in DNA crosslink repair
Abstract
FANCJ (also known as BRIP1 or BACH1) is a DNA helicase that was originally identified by its direct interaction with the hereditary breast cancer protein, BRCA1. Similar to BRCA1, FANCJ function is essential for DNA repair and breast cancer suppression. FANCJ is also mutated in the cancer prone syndrome Fanconi anemia, for which patient cells are characterized by extreme sensitivity to agents that generate DNA interstand crosslinks. Unexpectedly, correction of the interstrand crosslink sensitivity of FANCJ‐null patient cells did not require the FANCJ/BRCA1 interaction. Instead, FANCJ binding to the mismatch repair protein, MLH1 was required. Given this finding, we address the role of FANCJ and MLH1 in DNA crosslink processing and how their functions could be linked in checkpoint and/or recombination pathways. We speculate that after DNA crosslink processing and repair, the FANCJ/MLH1 interaction is critical for recovery and restart of replication. These ideas are considered and summarized in this review. Environ. Mol. Mutagen., 2010. © 2010 Wiley‐Liss, Inc.
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The P47A mutant is enzymatically inactive in vitro, similar to K52R or A349P, which dominantly disrupted DNA repair when expressed in cells.
“Consistent with this idea, the P47A mutant is enzyme inactive in vitro, similar to the helicace-inactive FANCJ mutant species, K52R, or FA-associated A349P, which dominantly disrupted DNA repair when expressed in cells [41,42].”
From Hereditary Breast Cancer and the BRCA1-Associated FANCJ/BACH1/BRIP1 (2011) · cites this paper as [41]
Cancer in patients carrying P47A or M299I may have involved a dominant negative effect of the mutant FANCJ proteins.
“Thus, cancer in these patients may have been related to the dominant negative effect of these mutant FANCJ proteins.”
From Hereditary Breast Cancer and the BRCA1-Associated FANCJ/BACH1/BRIP1 (2011) · cites this paper as [41]
Cites
PCNA, the Maestro of the Replication Fork
Moldovan, G.-L., Pfander, B., & Jentsch, S. (2007) · Cell · doi:10.1016/j.cell.2007.05.003 · Cited by 1,796 · see citing works
The multifaceted mismatch-repair system
Jiricny, J. (2006) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm1907 · Cited by 1,375 · see citing works
Wang, Y., Cortez, D., Yazdi, P., Neff, N., Elledge, S. J., & Qin, J. (2000) · Genes & Development · doi:10.1101/gad.14.8.927 · Cited by 1,221 · see citing works
Biallelic Inactivation of <i>BRCA2</i> in Fanconi Anemia
Howlett, N. G., Taniguchi, T., Olson, S., Cox, B., Waisfisz, Q., de Die-Smulders, C., Persky, N., Grompe, M., Joenje, H., Pals, G., et al. (2002) · Science · doi:10.1126/science.1073834 · Cited by 1,149 · see citing works
DNA Mismatch Repair: Functions and Mechanisms
Iyer, R. R., Pluciennik, A., Burdett, V., & Modrich, P. L. (2005) · Chemical Reviews · doi:10.1021/cr0404794 · Cited by 906 · see citing works
The BRCT Domain Is a Phospho-Protein Binding Domain
Yu, X., Chini, C. C. S., He, M., Mer, G., & Chen, J. (2003) · Science · doi:10.1126/science.1088753 · Cited by 862 · see citing works
The Breast Cancer Susceptibility Collaboration (UK), Seal, S., Thompson, D., Renwick, A., Elliott, A., Kelly, P., Barfoot, R., Chagtai, T., Jayatilake, H., Ahmed, M., et al. (2006) · Nature Genetics · doi:10.1038/ng1902 · Cited by 746 · see citing works
Cantor, S. B., Bell, D. W., Ganesan, S., Kass, E. M., Drapkin, R., Grossman, S., Wahrer, D. C. R., Sgroi, D. C., Lane, W. S., Haber, D. A., et al. (2001) · Cell · doi:10.1016/s0092-8674(01)00304-x · Cited by 674 · see citing works
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 · see citing works
Repair of DNA interstrand cross-links
Dronkert, M. L. G., & Kanaar, R. (2001) · Mutation Research/DNA Repair · doi:10.1016/s0921-8777(01)00092-1 · Cited by 557 · see citing works
Crosstalk between SUMO and Ubiquitin on PCNA Is Mediated by Recruitment of the Helicase Srs2p
Papouli, E., Chen, S., Davies, A. A., Huttner, D., Krejčí, L., Sung, P., & Ulrich, H. D. (2005) · Molecular Cell · doi:10.1016/j.molcel.2005.06.001 · Cited by 522 · see citing works
Ten Genes for Inherited Breast Cancer
Walsh, T., & King, M.-C. (2007) · Cancer Cell · doi:10.1016/j.ccr.2007.01.010 · Cited by 477 · see citing works
The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J
Levitus, M., Waisfisz, Q., Godthelp, B. C., Vries, Y. D., Hussain, S., Wiegant, W. W., Elghalbzouri-Maghrani, E., Steltenpool, J., Rooimans, M. A., Pals, G., et al. (2005) · Nature Genetics · doi:10.1038/ng1625 · Cited by 432 · see citing works
Wu, Y., Shin-ya, K., & Brosh, R. M. (2008) · Molecular and Cellular Biology · doi:10.1128/mcb.02210-07 · Cited by 428 · see citing works
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 · see citing works
Self-citationThe BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia
Levran, O., Attwooll, C., Henry, R. T., Milton, K. L., Neveling, K., Rio, P., Batish, S. D., Kalb, R., Velleuer, E., Barral, S., et al. (2005) · Nature Genetics · doi:10.1038/ng1624 · Cited by 370 · see citing works
RTEL1 Maintains Genomic Stability by Suppressing Homologous Recombination
Barber, L. J., Youds, J. L., Ward, J. D., McIlwraith, M. J., O'Neil, N. J., Petalcorin, M. I. R., Martin, J. S., Collis, S. J., Cantor, S. B., Auclair, M., et al. (2008) · Cell · doi:10.1016/j.cell.2008.08.016 · Cited by 369 · see citing works
Self-citationThe DNA Repair Helicases XPD and FancJ Have Essential Iron-Sulfur Domains
Rudolf, J., Makrantoni, V., Ingledew, W. J., Stark, M. J. R., & White, M. F. (2006) · Molecular Cell · doi:10.1016/j.molcel.2006.07.019 · Cited by 330 · see citing works
Vaze, M. B., Pellicioli, A., Lee, S. E., Ira, G., Liberi, G., Arbel‐Eden, A., Foiani, M., & Haber, J. E. (2002) · Molecular Cell · doi:10.1016/s1097-2765(02)00593-2 · Cited by 327 · see citing works
Multifactorial contributions to an acute DNA damage response by BRCA1/BARD1-containing complexes
Greenberg, R. A., Sobhian, B., Pathania, S., Cantor, S. B., Nakatani, Y., & Livingston, D. M. (2006) · Genes & Development · doi:10.1101/gad.1381306 · Cited by 308 · see citing works
Self-citationFanconi Anemia (Cross)linked to DNA Repair
Niedernhofer, L. J., Lalai, A. S., & Hoeijmakers, J. H. J. (2005) · Cell · doi:10.1016/j.cell.2005.12.009 · Cited by 290 · see citing works
Stojic, L., Mojas, N., Cejka, P., di Pietro, M., Ferrari, S., Marra, G., & Jiricny, J. (2004) · Genes & Development · doi:10.1101/gad.294404 · Cited by 246 · see citing works
Cantor, S., Drapkin, R., Zhang, F., Lin, Y., Han, J., Pamidi, S., & Livingston, D. M. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0308717101 · Cited by 240 · see citing works
Self-citationHeterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes
Levitus, M., Rooimans, M. A., Steltenpool, J., Cool, N. F. C., Oostra, A. B., Mathew, C. G., Hoatlin, M. E., Waisfisz, Q., Arwert, F., de Winter, J. P., et al. (2003) · Blood · doi:10.1182/blood-2003-08-2915 · Cited by 237 · see citing works
Bridge, W. L., Vandenberg, C. J., Franklin, R., & Hiom, K. J. (2005) · Nature Genetics · doi:10.1038/ng1627 · Cited by 208 · see citing works
The mismatch repair system is required for S-phase checkpoint activation
Brown, K. D., Rathi, A., Kamath, R., Beardsley, D. I., Zhan, Q., Mannino, J. L., & Baskaran, R. (2003) · Nature Genetics · doi:10.1038/ng1052 · Cited by 206 · see citing works
Signalling cell cycle arrest and cell death through the MMR System
O’Brien, V., & Brown, R. E. (2005) · Carcinogenesis · doi:10.1093/carcin/bgi298 · Cited by 200 · see citing works
The mismatch-repair protein hMSH2 binds selectively to DNA adducts of the anticancer drug cisplatin
Mello, J. A., Acharya, S., Fishel, R. A., & Essigmann, J. M. (1996) · Chemistry & Biology · doi:10.1016/s1074-5521(96)90149-0 · Cited by 198 · see citing works
An Msh2 Point Mutation Uncouples DNA Mismatch Repair and Apoptosis
Lin, D. P., Wang, Y., Scherer, S. J., Clark, A. B., Yang, K., Avdievich, E., Jin, B., Werling, U., Parris, T., Kurihara, N., et al. (2004) · Cancer Research · doi:10.1158/0008-5472.can-03-2957 · Cited by 195 · see citing works
Functional interactions and signaling properties of mammalian DNA mismatch repair proteins
Bellacosa, A. (2001) · Cell Death and Differentiation · doi:10.1038/sj.cdd.4400948 · Cited by 188 · see citing works
The FANCJ/MutLα interaction is required for correction of the cross‐link response in FA‐J cells
Peng, M., Litman, R., Xie, J., Sharma, S., Brosh, R. M., & Cantor, S. B. (2007) · The EMBO Journal · doi:10.1038/sj.emboj.7601754 · Cited by 181 · see citing works
Self-citationMutS and MutL Activate DNA Helicase II in a Mismatch-dependent Manner
Yamaguchi, M., Dao, V., & Modrich, P. L. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.15.9197 · Cited by 164 · see citing works
Thompson, L. H., & Hinz, J. M. (2009) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2009.02.003 · Cited by 154 · see citing works
Dao, V., & Modrich, P. L. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.15.9202 · Cited by 150 · see citing works
Mismatch repair proteins: key regulators of genetic recombination
Surtees, J. A., Argueso, J. L., & Alani, E. (2004) · Cytogenetic and Genome Research · doi:10.1159/000080593 · Cited by 146 · see citing works
Analysis of the DNA Substrate Specificity of the Human BACH1 HelicaseAssociated with BreastCancer
Gupta, R., Sharma, S., Sommers, J. A., Jin, Z., Cantor, S. B., & Brosh, R. M. (2005) · Journal of Biological Chemistry · doi:10.1074/jbc.m501995200 · Cited by 131 · see citing works
Self-citationEscherichia coli MutL Loads DNA Helicase II onto DNA
Mechanic, L. E., Frankel, B. A., & Matson, S. W. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.m006268200 · Cited by 125 · see citing works
Kondo, E. (2001) · Nucleic Acids Research · doi:10.1093/nar/29.8.1695 · Cited by 123 · see citing works
Mismatch repair participates in error‐free processing of DNA interstrand crosslinks in human cells
Wu, Q., Christensen, L. A., Legerski, R. J., et al. (2005) · EMBO Reports · doi:10.1038/sj.embor.7400418 · Cited by 116 · see citing works
Gupta, R., Sharma, S., Sommers, J. A., Kenny, M. K., Cantor, S. B., & Brosh, R. M. (2007) · Blood · doi:10.1182/blood-2006-11-057273 · Cited by 113 · see citing works
Self-citationSommers, J. A., Rawtani, N., Gupta, R., Bugreev, D. V., Mazin, A. V., Cantor, S. B., & Brosh, R. M. (2009) · Journal of Biological Chemistry · doi:10.1074/jbc.m809019200 · Cited by 112 · see citing works
Self-citationKumaraswamy, E., & Shiekhattar, R. (2007) · Molecular and Cellular Biology · doi:10.1128/mcb.00961-07 · Cited by 110 · see citing works
How Fanconi anemia proteins promote the four Rs: Replication, recombination, repair, and recovery
Thompson, L. H., Hinz, J. M., Yamada, N. A., & Jones, N. J. (2005) · Environmental and Molecular Mutagenesis · doi:10.1002/em.20109 · Cited by 104 · see citing works
hMutSβ Is Required for the Recognition and Uncoupling of Psoralen Interstrand Cross-Links In Vitro
Zhang, N., Lu, X., Zhang, X., Peterson, C. A., & Legerski, R. J. (2002) · Molecular and Cellular Biology · doi:10.1128/mcb.22.7.2388-2397.2002 · Cited by 103 · see citing works
Youds, J. L., Barber, L. J., Ward, J. D., Collis, S. J., O’Neil, N. J., Boulton, S. J., & Rose, A. M. (2007) · Molecular and Cellular Biology · doi:10.1128/mcb.01641-07 · Cited by 102 · see citing works
Durant, S. T., Morris, M. M., Illand, M., et al. (1999) · Current Biology · doi:10.1016/s0960-9822(99)80047-5 · Cited by 100 · see citing works
Chandra, S., Levran, O., Jurickova, I., et al. (2005) · Molecular Therapy · doi:10.1016/j.ymthe.2005.04.021 · Cited by 98 · see citing works
De Nicolo, A., Tancredi, M., Lombardi, G., Flemma, C. C., Barbuti, S., Di Cristofano, C., Sobhian, B., Bevilacqua, G., Drapkin, R., & Caligo, M. A. (2008) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-08-0087 · Cited by 91 · see citing works
BACH1 is a DNA repair protein supporting BRCA1 damage response
Peng, M., Litman, R., Jin, Z., Fong, G., & Cantor, S. B. (2006) · Oncogene · doi:10.1038/sj.onc.1209257 · Cited by 88 · see citing works
Self-citationShen, X. H., Do, H., Li, Y., Chung, W.-H., Tomasz, M., de Winter, J. P., Xia, B., Elledge, S. J., Wang, W., & Li, L. (2009) · Molecular Cell · doi:10.1016/j.molcel.2009.06.034 · Cited by 87 · see citing works
Zhang, N., Liu, X., Li, L., & Legerski, R. J. (2007) · DNA repair · doi:10.1016/j.dnarep.2007.06.002 · Cited by 87 · see citing works
The effect of the Fanconi anemia polypeptide, FAC, upon p53 induction and G2 checkpoint regulation
Kupfer, G. M., & D’Andrea, A. D. (1996) · Blood · doi:10.1182/blood.v88.3.1019.1019 · Cited by 69 · see citing works
Wu, Q., & Vásquez, K. M. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.1000189 · Cited by 60 · see citing works
DNA interstrand crosslink repair in mammalian cells
McCabe, K. M., Olson, S. B., & Moses, R. E. (2009) · Journal of Cellular Physiology · doi:10.1002/jcp.21811 · Cited by 59 · see citing works
Suhasini, A. N., Sommers, J. A., Mason, A. C., Voloshin, O. N., Camerini‐Otero, R. D., Wold, M. S., & Brosh, R. M. (2009) · Journal of Biological Chemistry · doi:10.1074/jbc.m109.012229 · Cited by 53 · see citing works
Lin, X., Trang, J., Okuda, T., et al. (2006) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-05-1380 · Cited by 45 · see citing works
Saydam, N., Kanagaraj, R., Dietschy, T., Garcia, P. L., Peña-Dı́az, J., Shevelev, I., Štagljar, I., & Janščák, P. (2007) · Nucleic Acids Research · doi:10.1093/nar/gkm500 · Cited by 42 · see citing works
Gupta, R., Sharma, S., Doherty, K. M., Sommers, J. A., Cantor, S. B., & Brosh, R. M. (2006) · Nucleic Acids Research · doi:10.1093/nar/gkl964 · Cited by 41 · see citing works
Self-citationHuman MutL-complexes monitor homologous recombination independently of mismatch repair
Siehler, S. Y., Schrauder, M. G., Gerischer, U. C., Cantor, S. B., Marra, G., & Wiesmüller, L. (2008) · DNA repair · doi:10.1016/j.dnarep.2008.10.011 · Cited by 40 · see citing works
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Hereditary Breast Cancer and the BRCA1-Associated FANCJ/BACH1/BRIP1
Cantor, S. B., & Guillemette, S. (2011) · Future Oncology · doi:10.2217/fon.10.191 · Cited by 106 · see citing works
“Consistent with this idea, the P47A mutant is enzyme inactive in vitro, similar to the helicaceinactive FANCJ mutant species, K52R, or FA-associated A349P, which dominantly disrupted DNA repair when expressed in cells [41,42].”
Self-citation
- Authors
- Cantor, S. B., & Xie, J.
- Affiliations
- University of Massachusetts Chan Medical School (US)
- Corresponding author
- Cantor, Sharon B.
- ORCID
- Cantor, Sharon B.
- Venue
- Environmental and Molecular Mutagenesis
- Publisher
- Wiley
- Published
- 2010-07
- Volume
- 51
- Issue
- 6
- Pages
- 500-507
- ISSN
- 0893-6692 (ISSN-L)
- 1098-2280
- OpenAlex
- W2085383063
- Cited by
- 29
- References
- 59
- Citations by year
- 2026: 1 · 2025: 2 · 2024: 4 · 2023: 1 · 2021: 1 · 2020: 3 · 2019: 1 · 2016: 4 · 2015: 1 · 2014: 3 · 2012: 4
- FWCI
- 0.22
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Environmental and Molecular Mutagenesis (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Cancer Institute (R01CA129514)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Keywords
- FANCJ, BACH1, BRIP1, MLH1, interstrand cross-links, DNA crosslink repair, Fanconi anemia, BRCA1, DNA helicase, DNA mismatch repair, replication restart, DNA damage checkpoint, homologous recombination, breast cancer susceptibility
- MeSH terms
- MutL Protein Homolog 1, Breast Neoplasms, DNA Damage, DNA Repair, Female, Humans, Mutation, Nuclear Proteins, BRCA1 Protein, Adaptor Proteins, Signal Transducing, Basic-Leucine Zipper Transcription Factors, Fanconi Anemia Complementation Group Proteins
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