Targeting the DNA Repair Enzyme Polymerase θ in Cancer Therapy
Tài liệu tham khảo
Dobzhansky, 1946, Genetics of natural populations; recombination and variability in populations of Drosophila pseudoobscura, Genetics, 31, 269, 10.1093/genetics/31.3.269
Han, 2017, Synergistic drug combinations for cancer identified in a CRISPR screen for pairwise genetic interactions, Nat. Biotechnol., 35, 463, 10.1038/nbt.3834
Farmer, 2005, Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy, Nature, 434, 917, 10.1038/nature03445
Bryant, 2005, Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADP-ribose) polymerase.[erratum appears in Nature. 2007 May 17;447(7142):346], Nature, 434, 913, 10.1038/nature03443
Kawamura, 2004, DNA polymerase θ is preferentially expressed in lymphoid tissues and upregulated in human cancers, Int. J. Cancer, 109, 9, 10.1002/ijc.11666
Lemée, 2010, DNA polymerase θ up-regulation is associated with poor survival in breast cancer, perturbs DNA replication, and promotes genetic instability, Proc. Natl. Acad. Sci. U. S. A., 107, 13390, 10.1073/pnas.0910759107
Higgins, 2010, Overexpression of POLQ confers a poor prognosis in early breast cancer patients, Oncotarget, 1, 175, 10.18632/oncotarget.124
Lessa, 2014, Adult height and head and neck cancer: a pooled analysis within the INHANCE Consortium, Head Neck, 36, 1391
Allera-Moreau, 2012, DNA replication stress response involving PLK1, CDC6, POLQ, RAD51 and CLASPIN upregulation prognoses the outcome of early/mid-stage non-small cell lung cancer patients, Oncogenesis, 1, 1, 10.1038/oncsis.2012.29
Shima, 2004, The mouse genomic instability mutation chaos1 is an allele of Polq that exhibits genetic interaction with Atm, Mol. Cell. Biol., 24, 10381, 10.1128/MCB.24.23.10381-10389.2004
Wang, 2019, DNA polymerase (POLQ) is important for repair of DNA double-strand breaks caused by fork collapse, J. Biol. Chem., 294, 3909, 10.1074/jbc.RA118.005188
Ceccaldi, 2015, Homologous-recombination-deficient tumours are dependent on Polθ -mediated repair, Nature, 518, 258, 10.1038/nature14184
Mateos-Gomez, 2015, Mammalian polymerase θ promotes alternative NHEJ and suppresses recombination, Nature, 518, 254, 10.1038/nature14157
Kelso, 2019, Distinct roles of RAD52 and POLQ in chromosomal break repair and replication stress response, PLoS Genet., 15, 1, 10.1371/journal.pgen.1008319
Feng, 2019, Genetic determinants of cellular addiction to DNA polymerase theta, Nat. Commun., 10.1038/s41467-019-12234-1
Mengwasser, 2019, Genetic Screens Reveal FEN1 and APEX2 as BRCA2 Synthetic Lethal Targets, Mol. Cell, 73, 885, 10.1016/j.molcel.2018.12.008
Chang, 2017, Non-homologous DNA end joining and alternative pathways to double-strand break repair, Nat. Rev. Mol. Cell Biol., 18, 495, 10.1038/nrm.2017.48
Ranjha, 2018, Main steps in DNA double-strand break repair: an introduction to homologous recombination and related processes, Chromosoma, 127, 187, 10.1007/s00412-017-0658-1
Koole, 2014, A polymerase theta-dependent repair pathway suppresses extensive genomic instability at endogenous G4 DNA sites, Nat. Commun., 5, 1, 10.1038/ncomms4216
Audebert, 2004, Involvement of poly(ADP-ribose) polymerase-1 and XRCC1/DNA ligase III in an alternative route for DNA double-strand breaks rejoining, J. Biol. Chem., 279, 55117, 10.1074/jbc.M404524200
Wang, 2006, PARP-1 and Ku compete for repair of DNA double strand breaks by distinct NHEJ pathways, Nucleic Acids Res., 34, 6170, 10.1093/nar/gkl840
Truong, 2013, Microhomology-mediated end joining and homologous recombination share the initial end resection step to repair DNA double-strand breaks in mammalian cells, Proc. Natl. Acad. Sci. U. S. A., 110, 7720, 10.1073/pnas.1213431110
Chan, 2010, Dual roles for DNA polymerase theta in alternative end-joining repair of double-strand breaks in Drosophila, PLoS Genet., 6, 1, 10.1371/journal.pgen.1001005
Kent, 2015, Mechanism of microhomology-mediated end-joining promoted by human DNA polymerase θ, Nat. Struct. Mol. Biol., 22, 230, 10.1038/nsmb.2961
Ahrabi, 2016, A role for human homologous recombination factors in suppressing microhomology-mediated end joining, Nucleic Acids Res., 44, 5743, 10.1093/nar/gkw326
Simsek, 2011, DNA ligase III promotes alternative nonhomologous end-joining during chromosomal translocation formation, PLoS Genet., 7, 1, 10.1371/journal.pgen.1002080
Liang, 2008, Human DNA ligases I and III, but not ligase IV, are required for microhomology-mediated end joining of DNA double-strand breaks, Nucleic Acids Res., 36, 3297, 10.1093/nar/gkn184
Lu, 2016, Ligase I and ligase III mediate the DNA double-strand break ligation in alternative end-joining, Proc. Natl. Acad. Sci. U. S. A., 113, 1256, 10.1073/pnas.1521597113
Sallmyr, 2018, Repair of DNA double-strand breaks by mammalian alternative end-joining pathways, J. Biol. Chem., 293, 10536, 10.1074/jbc.TM117.000375
Schimmel, 2019, Templated Insertions: A smoking gun for polymerase theta-mediated end joining, Trends Genet., 35, 632, 10.1016/j.tig.2019.06.001
Kent, 2016, Polymerase θ is a robust terminal transferase that oscillates between three different mechanisms during end-joining, Elife, 5, 1, 10.7554/eLife.13740
Bunting, 2010, 53BP1 inhibits homologous recombination in brca1-deficient cells by blocking resection of DNA breaks, Cell, 141, 243, 10.1016/j.cell.2010.03.012
Mateos-Gomez, 2017, The helicase domain of Polθ counteracts RPA to promote alt-NHEJ, Nat. Struct. Mol. Biol., 24, 1116, 10.1038/nsmb.3494
Wyatt, 2016, Essential roles for polymerase θ-mediated end joining in the repair of chromosome breaks, Mol. Cell, 63, 662, 10.1016/j.molcel.2016.06.020
Seki, 2003, POLQ (Pol θ), a DNA polymerase and DNA-dependent ATPase in human cells, Nucleic Acids Res., 31, 6117, 10.1093/nar/gkg814
Hogg, 2004, Crystallographic snapshots of a replicative DNA polymerase encountering an abasic site, EMBO J., 23, 1483, 10.1038/sj.emboj.7600150
Hogg, 2011, Lesion bypass activity of DNA polymerase θ (POLQ) is an intrinsic property of the pol domain and depends on unique sequence inserts, J. Mol. Biol., 405, 642, 10.1016/j.jmb.2010.10.041
Kusumoto, 2002, Translesion synthesis by human DNA polymerase η across thymine glycol lesions, Biochemistry, 41, 6090, 10.1021/bi025549k
Takata, 2006, Human DNA polymerase N (POLN) is a low fidelity enzyme capable of error-free bypass of 5S-thymine glycol, J. Biol. Chem., 281, 23445, 10.1074/jbc.M604317200
Yoon, 2019, Error-prone replication through UV Lesions by DNA polymerase θ protects against skin cancers, Cell, 176, 1295, 10.1016/j.cell.2019.01.023
Alexander, 2016, Multiple mechanisms contribute to double-strand break repair at rereplication forks in Drosophila follicle cells, Proc. Natl. Acad. Sci. U. S. A., 113, 13809, 10.1073/pnas.1617110113
Roerink, 2014, Polymerase theta-mediated end joining of replication-associated DNA breaks in C. elegans, Genome Res., 24, 954, 10.1101/gr.170431.113
Beagan, 2017, Drosophila DNA polymerase theta utilizes both helicase-like and polymerase domains during microhomology-mediated end joining and interstrand crosslink repair, PLoS Genet., 13, 1, 10.1371/journal.pgen.1006813
Muzzini, 2008, Caenorhabditis elegans POLQ-1 and HEL-308 function in two distinct DNA interstrand cross-link repair pathways, DNA Repair (Amst), 7, 941, 10.1016/j.dnarep.2008.03.021
Inagaki, 2006, 18, 879
Yousefzadeh, 2014, Mechanism of suppression of chromosomal instability by DNA polymerase POLQ, PLoS Genet., 10, 10.1371/journal.pgen.1004654
Shima, 2003, Phenotype-based identification of mouse chromosome instability mutants, Genetics, 163, 1031, 10.1093/genetics/163.3.1031
Prasad, 2009, Human DNA polymerase θ possesses 5′-dRP lyase activity and functions in single-nucleotide base excision repair in vitro, Nucleic Acids Res., 37, 1868, 10.1093/nar/gkp035
Yoshimura, 2006, Vertebrate POLQ and POLβ cooperate in base excision repair of oxidative DNA damage, Mol. Cell, 24, 115, 10.1016/j.molcel.2006.07.032
Ukai, 2006, Role of DNA polymerase θ in tolerance of endogenous and exogenous DNA damage in mouse B cells, Genes Cells, 11, 111, 10.1111/j.1365-2443.2006.00922.x
Arana, 2008, Low-fidelity DNA synthesis by human DNA polymerase theta, Nucleic Acids Res., 36, 3847, 10.1093/nar/gkn310
Higgins, 2010, A small interfering RNA screen of genes involved in DNA repair identifies tumor-specific radiosensitization by POLQ knockdown, Cancer Res., 70, 2984, 10.1158/0008-5472.CAN-09-4040
Black, 2019, Molecular basis of microhomology-mediated end-joining by purified full-length Polθ, Nat. Commun., 10, 10.1038/s41467-019-12272-9
Büttner, 2007, Structural basis for DNA duplex separation by a superfamily-2 helicase, Nat. Struct. Mol. Biol., 14, 647, 10.1038/nsmb1246
Richards, 2008, Structure of the DNA repair helicase Hel308 reveals DNA binding and autoinhibitory domains, J. Biol. Chem., 283, 5118, 10.1074/jbc.M707548200
Newman, 2015, Structure of the helicase domain of DNA polymerase theta reveals a possible role in the microhomology-mediated end-joining pathway, Structure, 23, 2319, 10.1016/j.str.2015.10.014
Seki, 2004, High-efficiency bypass of DNA damage by human DNA polymerase Q, EMBO J., 23, 4484, 10.1038/sj.emboj.7600424
Goff, 2009, Lack of DNA polymerase θ (POLQ) radiosensitizes bone marrow stromal cells in vitro and increases reticulocyte micronuclei after total-body irradiation, Radiat. Res., 172, 165, 10.1667/RR1598.1
Shinmura, 2019, POLQ overexpression is associated with an increased somatic mutation load and PLK4 overexpression in lung adenocarcinoma, Cancers (Basel), 11, 1, 10.3390/cancers11050722
Bentley, 2004, DNA double strand break repair in human bladder cancer is error prone and involves microhomology-associated end-joining, Nucleic Acids Res., 32, 5249, 10.1093/nar/gkh842
Pillaire, 2010, A DNA replication signature of progression and negative outcome in colorectal cancer, Oncogene, 29, 876, 10.1038/onc.2009.378
Cazaux, C. and Hoffmann, J.-S. (2012) Signature for the diagnosis of cancer aggressiveness and genetic instability, WO 2012/156501 Al
Cazaux, C. and Hoffmann, J.-S. (2017) Signature for the diagnosis of lung cancer aggressiveness and genetic instability, US 9,90,556 B2
Kais, 2016, FANCD2 maintains fork stability in BRCA1/2-deficient tumors and promotes alternative end-joining DNA repair, Cell Rep., 15, 2488, 10.1016/j.celrep.2016.05.031
Goullet De Rugy, 2016, Excess Polθ functions in response to replicative stress in homologous recombination-proficient cancer cells, Biol. Open, 5, 1485, 10.1242/bio.018028
Dai, 2016, Co-inhibition of pol θ and HR genes efficiently synergize with cisplatin to suppress cisplatin-resistant lung cancer cells survival, Oncotarget, 7, 65157, 10.18632/oncotarget.11214
Kumar, 2020, Hyperactive end joining repair mediates resistance to DNA damaging therapy in p53- deficient cells, bioRxiv
Nik-Zainal, 2016, Landscape of somatic mutations in 560 breast cancer whole-genome sequences, Nature, 534, 47, 10.1038/nature17676
Alexandrov, 2013, Signatures of mutational processes in human cancer, Nature, 500, 415, 10.1038/nature12477
Carvajal-Garcia, 2020, Mechanistic basis for microhomology identification and genome scarring by polymerase theta, Proc. Natl. Acad. Sci. U. S. A., 117, 8476, 10.1073/pnas.1921791117
Zhou, 2020, Polymerase theta inhibition kills homologous recombination deficient tumors, bioRxiv
Tobin, 2012, Targeting abnormal DNA repair in therapy-resistant breast cancers, Mol. Cancer Res., 10, 96, 10.1158/1541-7786.MCR-11-0255
Finnie, 1995, DNA-dependent protein kinase activity is absent in xrs-6 cells: Implications for site-specific recombination and DNA double-strand break repair, Proc. Natl. Acad. Sci. U. S. A., 92, 320, 10.1073/pnas.92.1.320
Zahn, 2015, Human DNA polymerase θ grasps the primer terminus to mediate DNA repair, Nat. Struct. Mol. Biol., 22, 304, 10.1038/nsmb.2993
Laverty, 2018, Mechanistic insight through irreversible inhibition: DNA Polymerase θ uses a common active site for polymerase and lyase activities, J. Am. Chem. Soc., 140, 9034, 10.1021/jacs.8b04158
Livraghi, 2015, PARP inhibitors in the management of breast cancer: current data and future prospects, BMC Med., 13, 1, 10.1186/s12916-015-0425-1
Lord, 2017, PARP inhibitors: synthetic lethality in the clinic, Science (80-.), 355, 62, 10.1126/science.aam7344
Edwards, 2008, Resistance to therapy caused by intragenic deletion in BRCA2, Nature, 451, 1111, 10.1038/nature06548
Jaspers, 2013, Loss of 53BP1 causes PARP inhibitor resistance in Brca1 -mutated mouse mammary tumors, Cancer Disc., 3, 68, 10.1158/2159-8290.CD-12-0049
Gogola, 2019, Resistance to PARP inhibitors: lessons from preclinical models of BRCA-associated cancer, Annu. Rev. Cancer Biol., 3, 235, 10.1146/annurev-cancerbio-030617-050232
Dev, 2018, Shieldin complex promotes DNA end-joining and counters homologous recombination in BRCA1-null cells, Nat. Cell Biol., 20, 954, 10.1038/s41556-018-0140-1
Rottenberg, 2008, High sensitivity of BRCA1-deficient mammary tumors to the PARP inhibitor AZD2281 alone and in combination with platinum drugs, Proc. Natl. Acad. Sci. U. S. A., 105, 17079, 10.1073/pnas.0806092105
Sakai, 2008, Secondary mutations as a mechanism of cisplatin resistance in BRCA2-mutated cancers, Nature, 451, 1116, 10.1038/nature06633
Ryan, 2018, Synthetic lethality and cancer – penetrance as the major barrier, Trends Cancer, 4, 671, 10.1016/j.trecan.2018.08.003