MOLECULAR MECHANISMS OF DNA DAMAGE AND REPAIR IN NORMAL AND MALIGNANT CELLS
DOI:
https://doi.org/10.32471/oncology.2663-7928.t-24-3-2022-g.10701Keywords:
клітинний цикл, пошкодження ДНК, репараціяAbstract
Replicative stress is one of the important factors that plays a significant role in the processes of malignant neoplasms formation and progression, what had been demonstrated experimentally. Polymerase errors that occur during the replication process; violation of the processes of regulation, coordination and control over the replication process; the occurrence of mutations in the genes involved in this process etc. — all this leads to an imbalance and delay in replication, the destruction of replicative forks, the occurrence of violations of the integrity of DNA chains, including due to the appearance of double-stranded breaks. As a result, all of the above result in the emergence of new mutations and chromosomal rearrangements, which contributes to tumor progression in general. This work analyzed and systematized the molecular mechanisms that coordinate DNA damage and repair processes in normal and malignant cells.
References
Hanahan D, Weinberg RA. Hallmarks of cancer: the next generation. Cell 2011; 144 (5): 646–74. doi: 10.1016/j.cell.2011.02.013.
Wijewardhane N, Dressler L, Ciccarelli FD. Normal somatic mutations in cancer transformation. Cancer cell 2021; 39 (2): 125–9. doi: 10.1016/j.ccell.2020.11.002.
Knudson AG, Jr. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 1971; 68 (4): 820–3. doi: 10.1073/pnas.68.4.820.
Chernoff J. The two-hit theory hits 50. Mol Biol Cell 2021; 32 (22): rt1. doi: 10.1091/mbc.E21-08-0407.
Bernstein C, Prasad AR, Nfonsam V, Bernstein H. DNA damage, DNA repair and cancer. In: New research directions in DNA repair. Chen C (ed). London: IntechOpen, 2013: 413–467. doi: 10.5772/53919.
Harashima H, Dissmeyer N, Schnittger A. Cell cycle control across the eukaryotic kingdom. Trends Cell Biol 2013; 23 (7): 345–56. doi: 10.1016/j.tcb.2013.03.002.
Johnson DG. Regulation of E2F-1 gene expression by p130 (Rb2) and D-type cyclin kinase activity. Oncogene 1995; 11 (9): 1685–92.
Komori T. Regulation of Rb family proteins by Cdk6/Ccnd1 in growth plates. Cell Сycle 2013; 12 (14): 2161–2. doi: 10.4161/cc.25515.
Hume S, Dianov GL, Ramadan K. A unified model for the G1/S cell cycle transition. Nucleic Acids Res 2020; 48 (22): 12483–501. doi: 10.1093/nar/gkaa1002.
Latif C, Harvey SH, O’Connell MJ. Ensuring the stability of the genome: DNA damage checkpoints. Scientific World Journal 2001; 1: 684–702. doi: 10.1100/tsw.2001.297.
Sancar A, Lindsey-Boltz LA, Unsal-Kacmaz K, et.al. Molecular mechanisms of mammalian DNA repair and the DNA damage checkpoints. Annu Rev Biochem 2004; 73: 39–85. doi: 10.1146/annurev.biochem.73.011303.073723.
Kent LN, Leone G. The broken cycle: E2F dysfunction in cancer. Nat Rev Cancer 2019; 19 (6): 326–38. doi: 10.1038/s41568-019-0143-7.
Sherr CJ, McCormick F. The RB and p53 pathways in cancer. Cancer Сell 2002; 2 (2): 103–12. doi: 10.1016/s1535-6108(02)00102-2.
Goodrich DW. The retinoblastoma tumor-suppressor gene, the exception that proves the rule. Oncogene 2006; 25 (38): 5233–43. doi: 10.1038/sj.onc.1209616.
Smith HL, Southgate H, Tweddle DA, et.al. DNA damage checkpoint kinases in cancer. Expert Rev Mol Med 2020; 22: e2. doi: 10.1017/erm.2020.3.
Stark GR, Taylor WR. Analyzing the G2/M checkpoint. Methods Mol Biol 2004; 280: 51–82. doi: 10.1385/1-59259-788-2:051.
Wang WJ, Wu SP, Liu JB, et al. MYC regulation of CHK1 and CHK2 promotes radioresistance in a stem cell-like population of nasopharyngeal carcinoma cells. Cancer Res 2013; 73 (3): 1219–31. doi: 10.1158/0008-5472.CAN-12-1408.
Matheson CJ, Backos DS, Reigan P. Targeting WEE1 kinase in cancer. Trends Pharmacol Sci 2016; 37 (10): 872-81. doi: 10.1016/j.tips.2016.06.006.
Zhang J, Wang X, Vikash V, et al. ROS and ROS-mediated cellular signaling. Oxid Med Cell Longev 2016; 2016: 4350965. doi: 10.1155/2016/4350965.
Renaudin X. Reactive oxygen species and DNA damage response in cancer.. Int Rev Cell Mol Biol 2021; 364: 139–61. doi: 10.1016/bs.ircmb.2021.04.001.
Srinivas US, Tan BWQ, Vellayappan BA, et.al. ROS and the DNA damage response in cancer. Redox Biol 2019; 25: 101084. doi: 10.1016/j.redox.2018.101084.
Ohno M, Miura T, Furuichi M, et al. A genome-wide distribution of 8-oxoguanine correlates with the preferred regions for recombination and single nucleotide polymorphism in the human genome. Genome Res 2006; 16 (5): 567–75. doi: 10.1101/gr.4769606.
Chatterjee N, Walker GC. Mechanisms of DNA damage, repair, and mutagenesis. Environ Mol Mutagen 2017; 58 (5): 235–63. doi: 10.1002/em.22087.
Mehrotra S, Mittra I. Origin of genome instability and determinants of mutational landscape in cancer cells. Genes 2020; 11 (9): 1101. doi: 10.3390/genes11091101
Barnes JL, Zubair M, John K, et.al. Carcinogens and DNA damage. Biochem Soc Trans 2018; 46 (5): 1213–24. doi: 10.1042/BST20180519.
Sinha RP, Hader DP. UV-induced DNA damage and repair: a review. Photochem Photobiol Sci 2002; 1 (4): 225–36. doi: 10.1039/b201230h.
Grundy GJ, Parsons JL. Base excision repair and its implications to cancer therapy. Essays Biochem 2020; 64 (5): 831–43. doi: 10.1042/EBC20200013.
Robertson AB, Klungland A, Rognes T, et.al. DNA repair in mammalian cells: Base excision repair: the long and short of it. Cell Mol Life Sci 2009; 66 (6): 981–93. doi: 10.1007/s00018-009-8736-z.
Endutkin AV, Yudkina AV, Sidorenko VS, et.al. Transient protein-protein complexes in base excision repair. J Biomol Struct Dyn 2019; 37 (17): 4407–18. doi: 10.1080/07391102.2018.1553741.
Szczesny B, Tann AW, Longley MJ, et.al. Long patch base excision repair in mammalian mitochondrial genomes. J Biol Chem 2008; 283 (39): 26349–56. doi: 10.1074/jbc.M803491200.
Fortini P, Parlanti E, Sidorkina OM, et.al. The type of DNA glycosylase determines the base excision repair pathway in mammalian cells. J Biol Chem 1999; 274 (21): 15230–6. doi: 10.1074/jbc.274.21.15230.
Soifer VN, Matusevich LL, Goroshkina GI. Dimerization of DNA pyrimidine bases of HeLa cells in ultraviolet irradiation and removal of dimers during reparation in the dark. Radiobiologiia 1970; 10 (2): 275–8 (in Russian).
Liakos A, Lavigne MD, Fousteri M. Nucleotide excision repair: from neurodegeneration to cancer. Adv Exp Med Biol 2017; (1007): 17–39. doi: 10.1007/978-3-319-60733-7_2.
Hey T, Lipps G, Sugasawa K, et.al. The XPC-HR23B complex displays high affinity and specificity for damaged DNA in a true-equilibrium fluorescence assay. Biochemistry 2002; 41 (21): 6583–7. doi: 10.1021/bi012202t.
Apostolou Z, Chatzinikolaou G, Stratigi K, et.al. Nucleotide excision repair and transcription-associated genome instability. Bioessays 2019; 41 (4): e1800201. doi: 10.1002/bies.201800201.
Spivak G. Nucleotide excision repair in humans. DNA Repair 2015; 36: 13–8. doi: 10.1016/j.dnarep.2015.09.003.
Jachimowicz RD, Goergens J, Reinhardt HC. DNA double-strand break repair pathway choice — from basic biology to clinical exploitation. Cell Сycle 2019; 18 (13): 1423–34. doi: 10.1080/15384101.2019.1618542.
Ji P, Baumer N, Yin T, et al. DNA damage response involves modulation of Ku70 and Rb functions by cyclin A1 in leukemia cells. Int J Cancer 2007; 121 (4): 706–13. doi: 10.1002/ijc.22634.
Krug U, Yasmeen A, Beger C, et al. Cyclin A1 regulates WT1 expression in acute myeloid leukemia cells. Int J Oncol 2009; 34 (1): 129–36.
Chang H, Pannunzio NR, Adachi N, et.al. Non-homologous DNA end joining and alternative pathways to double-strand break repair. Nat Rev Mol Cell Biol 2017; 18 (8): 495–506. doi: 10.1038/nrm.2017.48.
Lieber MR. The mechanism of double-strand DNA break repair by the nonhomologous DNA end-joining pathway. Annu Rev Biochem 2010; 79: 181–211. doi: 10.1146/annurev.biochem.052308.093131.
Louzada-Neto O, Lopes BA, Brisson GD, et al. XRCC4 rs28360071 intronic variant is associated with increased risk for infant acute lymphoblastic leukemia with KMT2A rearrangements. Genet Mol Biol 2020; 43 (4): e20200160. doi: 10.1590/1678-4685-GMB-2020-0160.
Issa GC, Zarka J, Sasaki K, et al. Predictors of outcomes in adults with acute myeloid leukemia and KMT2A rearrangements. Blood Cancer J 2021; 11 (9): 162. doi: 10.1038/s41408-021-00557-6.
Ranjha L, Howard SM, Cejka P. Main steps in DNA double-strand break repair: an introduction to homologous recombination and related processes. Chromosoma 2018; 127 (2): 187–214. doi: 10.1007/s00412-017-0658-1.
Wright WD, Shah SS, Heyer WD. Homologous recombination and the repair of DNA double-strand breaks. J Biol Chem 2018; 293 (27): 10524–35. doi: 10.1074/jbc.TM118.000372.
Gaymes TJ, Mohamedali AM, Patterson M, et al. Microsatellite instability induced mutations in DNA repair genes CtIP and MRE11 confer hypersensitivity to poly (ADP-ribose) polymerase inhibitors in myeloid malignancies. Haematologica 2013; 98 (9): 1397–406. doi: 10.3324/haematol.2012.079251.
Varon R, Schoch C, Reis A, et.al. Mutation analysis of the Nijmegen breakage syndrome gene (NBS1) in nineteen patients with acute myeloid leukemia with complex karyotypes. Leuk Lymphoma 2003; 44 (11): 1931–4. doi: 10.1080/1042819031000099724.
Gaillard H, Garcia-Muse T, Aguilera A. Replication stress and cancer. Nat Rev Cancer 2015; 15 (5): 276–89. doi: 10.1038/nrc3916.
Zeman MK, Cimprich KA. Causes and consequences of replication stress. Nat Cell Biol 2014; 16 (1): 2–9. doi: 10.1038/ncb2897.
Saxena S, Zou L. Hallmarks of DNA replication stress. Mol Cell 2022; 82 (12): 2298–314. doi: 10.1016/j.molcel.2022.05.004.
Macheret M, Halazonetis TD. DNA replication stress as a hallmark of cancer. Annu Rev Pathol 2015; (10): 425–48. doi: 10.1146/annurev-pathol-012414-040424.
Curti L, Campaner S. MYC-induced replicative stress: a double-edged sword for cancer development and treatment. Int J Mol Sci 2021; 22 (12): 6168. doi: 10.3390/ijms22126168.