Genome Instability Caused by a Germline Mutation in the Human DNA Repair Gene
article has not abstract
Vyšlo v časopise:
Genome Instability Caused by a Germline Mutation in the Human DNA Repair Gene. PLoS Genet 8(11): e32767. doi:10.1371/journal.pgen.1003086
Kategorie:
Perspective
prolekare.web.journal.doi_sk:
https://doi.org/10.1371/journal.pgen.1003086
Souhrn
article has not abstract
Zdroje
1. BurgersPM, KooninEV, BrufordE, BlancoL, BurtisKC, et al. (2001) Eukaryotic DNA polymerases: proposal for a revised nomenclature. J Biol Chem 276: 43487–43490.
2. AlmeidaKH, SobolRW (2007) A unified view of base excision repair: lesion-dependent protein complexes regulated by post-translational modification. DNA Repair 6: 695–711.
3. BeardWA, WilsonSH (2006) Structure and mechanism of DNA polymerase Beta. Chem Rev 106: 361–382.
4. LangeSS, TakataK, WoodRD (2011) DNA polymerases and cancer. Nature Reviews Cancer 11: 96–110.
5. SobolRW, HortonJK, KuhnR, GuH, SinghalRK, et al. (1996) Requirement of mammalian DNA polymerase-ß in base-excision repair. Nature 379: 183–186.
6. LindahlT (1993) Instability and decay of the primary structure of DNA. Nature 362: 709–715.
7. SvilarD, GoellnerEM, AlmeidaKH, SobolRW (2011) Base excision repair and lesion-dependent sub-pathways for repair of oxidative DNA damage. Antioxid Redox Signal 14: 2491–2507.
8. Friedberg EC, Walker GC, Siede W, Wood RD, Schultz RA, et al.. (2006) DNA repair and mutagenesis, 2nd edition. Washington, D.C.: ASM Press. 1,164 p.
9. CaldecottKW, AoufouchiS, JohnsonP, ShallS (1996) XRCC1 polypeptide interacts with DNA polymerase ß and possibly poly (ADP-ribose) polymerase, and DNA ligase III is a novel molecular ‘nick-sensor’ in vitro. Nucleic Acids Research 24: 4387–4394.
10. LanL, NakajimaS, OohataY, TakaoM, OkanoS, et al. (2004) In situ analysis of repair processes for oxidative DNA damage in mammalian cells. Proceedings of the National Academy of Science 101: 13738–13743.
11. JelezcovaE, TrivediRN, WangXH, TangJB, BrownAR, et al. (2010) Parp1 activation in mouse embryonic fibroblasts promotes Pol beta-dependent cellular hypersensitivity to alkylation damage. Mutat Res 686: 57–67.
12. TangJB, SvilarD, TrivediRN, WangXH, GoellnerEM, et al. (2011) N-methylpurine DNA glycosylase and DNA polymerase beta modulate BER inhibitor potentiation of glioma cells to temozolomide. Neuro Oncol 13: 471–486.
13. MasaokaA, HortonJK, BeardWA, WilsonSH (2009) DNA polymerase beta and PARP activities in base excision repair in living cells. DNA Repair (Amst) 8: 1290–1299.
14. Almeida KH, Sobol RW (2005) Increased specificity and efficiency of base excision repair through complex formation. In: Siede W, Doetsch PW, Kow YW, editors. DNA damage recognition. New York: Marcel Dekker Inc. pp. 33–64.
15. SobolRW (2008) CHIPping away at base excision repair. Molecular Cell 29: 413–415.
16. YamtichJ, SpeedWC, StrakaE, KiddJR, SweasyJB, et al. (2009) Population-specific variation in haplotype composition and heterozygosity at the POLB locus. DNA Repair (Amst) 8: 579–584.
17. MohrenweiserHW, XiT, Vazquez-MatiasJ, JonesIM (2002) Identification of 127 amino acid substitution variants in screening 37 DNA repair genes in humans. Cancer Epidemiology Biomarkers & Prevention 11: 1054–1064.
18. GuoZ, ZhengL, DaiH, ZhouM, XuH, et al. (2009) Human DNA polymerase beta polymorphism, Arg137Gln, impairs its polymerase activity and interaction with PCNA and the cellular base excision repair capacity. Nucleic Acids Res 37: 3431–3441.
19. MorenoV, GemignaniF, LandiS, Gioia-PatricolaL, ChabrierA, et al. (2006) Polymorphisms in genes of nucleotide and base excision repair: risk and prognosis of colorectal cancer. Clin Cancer Res 12: 2101–2108.
20. MatakidouA, el GaltaR, WebbEL, RuddMF, BridleH, et al. (2007) Genetic variation in the DNA repair genes is predictive of outcome in lung cancer. Hum Mol Genet 16: 2333–2340.
21. SellickGS, WadeR, RichardsS, OscierDG, CatovskyD, et al. (2008) Scan of 977 nonsynonymous SNPs in CLL4 trial patients for the identification of genetic variants influencing prognosis. Blood 111: 1625–1633.
22. YamtichJ, NemecAA, KehA, SweasyJB (2012) A germline polymorphism of DNA polymerase beta induces genomic instability and cellular transformation. PLoS Genet 8: e1003052 doi:10.1371/journal.pgen.1003052
23. ClairmontCA, NarayananL, SunKW, GlazerPM, SweasyJB (1999) The Tyr-265-to-Cys mutator mutant of DNA polymerase beta induces a mutator phenotype in mouse LN12 cells. Proceedings of the National Acadamy of Sciences USA 96: 9580–9585.
24. OpreskoPL, SweasyJB, EckertKA (1998) The mutator form of polymerase beta with amino acid substitution at tyrosine 265 in the hinge region displays an increase in both base substitution and frame shift errors. Biochemistry 37: 2111–2119.
25. FortiniP, RaspaglioG, FalchiM, DogliottiE (1996) Analysis of DNA alkylation damage and repair in mammalian cells by the comet assay. Mutagenesis 11: 169–175.
26. PaullTT, RogakouEP, YamazakiV, KirchgessnerCU, GellertM, et al. (2000) A critical role for histone H2AX in recruitment of repair factors to nuclear foci after DNA damage. Current Biology 10: 886–895.
27. DoniganKA, HileSE, EckertKA, SweasyJB (2012) The human gastric cancer-associated DNA polymerase beta variant D160N is a mutator that induces cellular transformation. DNA Repair (Amst) 11: 381–390.
28. SweasyJB, LangT, StarcevicD, SunKW, LaiCC, et al. (2005) Expression of DNA polymerase {beta} cancer-associated variants in mouse cells results in cellular transformation. Proc Natl Acad Sci U S A 102: 14350–14355.
29. SobolRW, KartalouM, AlmeidaKH, JoyceDF, EngelwardBP, et al. (2003) Base excision repair intermediates induce p53-independent cytotoxic and genotoxic responses. Journal of Biological Chemistry 278: 39951–39959.
30. SobolRW, PrasadR, EvenskiA, BakerA, YangXP, et al. (2000) The lyase activity of the DNA repair protein ß-polymerase protects from DNA-damage-induced cytotoxicity. Nature 405: 807–810.
31. TangJ, GoellnerEM, WangXW, TrivediRN, St. CroixCM, et al. (2010) Bioenergetic metabolites regulate base excision repair-dependent cell death in response to DNA damage. Molecular Cancer Research 8: 67–79.
32. ParsonsJL, TaitPS, FinchD, DianovaII, AllinsonSL, et al. (2008) CHIP-mediated degradation and DNA damage-dependent stabilization regulate base excision repair proteins. Mol Cell 29: 477–487.
33. NeijenhuisS, Verwijs-JanssenM, van den BroekLJ, BeggAC, VensC (2010) Targeted radiosensitization of cells expressing truncated DNA polymerase {beta}. Cancer Research 70: 8706–8714.
34. LinGC, JaegerJ, EckertKA, SweasyJB (2009) Loop II of DNA polymerase beta is important for discrimination during substrate binding. DNA Repair (Amst) 8: 182–189.
35. BatraVK, BeardWA, ShockDD, KrahnJM, PedersenLC, et al. (2006) Magnesium-induced assembly of a complete DNA polymerase catalytic complex. Structure 14: 757–766.
36. CuneoMJ, LondonRE (2010) Oxidation state of the XRCC1 N-terminal domain regulates DNA polymerase beta binding affinity. Proceedings of the National Acadamy of Sciences USA 107: 6805–6810.
37. DalalS, ChikovaA, JaegerJ, SweasyJB (2008) The Leu22Pro tumor-associated variant of DNA polymerase beta is dRP lyase deficient. Nucleic Acids Res 36: 411–422.
38. IwanagaA, OuchidaM, MiyazakiK, HoriK, MukaiT (1999) Functional mutation of DNA polymerase ß found in human gastric cancer: inability of the base excision repair in vitro. Mutation Research 435: 121–128.
39. AnCL, ChenD, MakridakisNM (2011) Systematic biochemical analysis of somatic missense mutations in DNA polymerase beta found in prostate cancer reveal alteration of enzymatic function. Hum Mutat 32: 415–423.
40. ForbesSA, BindalN, BamfordS, ColeC, KokCY, et al. (2011) COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer. Nucleic Acids Res 39: D945–950.
41. DongZ, ZhaoG, ZhaoQ, YangH, XueL, et al. (2002) [A study of DNA polymerase beta mutation in human esophageal cancer]. Zhonghua Yi Xue Za Zhi 82: 899–902.
42. ZhaoGQ, WangT, ZhaoQ, YangHY, TanXH, et al. (2005) Mutation of DNA polymerase beta in esophageal carcinoma of different regions. World J Gastroenterol 11: 4618–4622.
43. HanLP, QiaoYH, DongZM, ShiHR, ZhaoGQ, et al. (2003) [Study on DNA polymerase beta gene mutation in human cervical cancer]. Zhonghua Fu Chan Ke Za Zhi 38: 618–620.
44. NemecAA, DoniganKA, MurphyDL, JaegerJ, SweasyJB (2012) Colon cancer-associated DNA polymerase beta variant induces genomic instability and cellular transformation. Journal of Biological Chemistry 287: 23840–23849.
45. SliwinskiT, ZiembaP, MorawiecZ, KowalskiM, ZadroznyM, et al. (2007) Polymorphisms of the DNA polymerase beta gene in breast cancer. Breast Cancer Res Treat 103: 161–166.
46. DalalS, HileS, EckertKA, SunKW, StarcevicD, et al. (2005) Prostate-cancer-associated I260M variant of DNA polymerase beta is a sequence-specific mutator. Biochemistry 44: 15664–15673.
47. SenejaniAG, DalalS, LiuY, NottoliTP, McGrathJM, et al. (2012) Y265C DNA polymerase beta knockin mice survive past birth and accumulate base excision repair intermediate substrates. Proceedings of the National Acadamy of Sciences USA 109: 6632–6637.
48. MurphyDL, DoniganKA, JaegerJ, SweasyJB (2012) The E288K colon tumor variant of DNA polymerase beta is a sequence specific mutator. Biochemistry 51: 5269–5275.
49. LangT, MaitraM, StarcevicD, LiSX, SweasyJB (2004) A DNA polymerase beta mutant from colon cancer cells induces mutations. Proc Natl Acad Sci U S A 101: 6074–6079.
50. WangL, PatelU, GhoshL, BanerjeeS (1992) DNA polymerase ß mutations in human colorectal cancer. Cancer Research 52: 4824–4827.
51. LangT, DalalS, ChikovaA, DimaioD, SweasyJB (2007) The E295K DNA polymerase beta gastric cancer-associated variant interferes with base excision repair and induces cellular transformation. Mol Cell Biol 27: 5587–5596.
52. LiY, GridleyCL, JaegerJ, SweasyJB, SchlickT (2012) Unfavorable electrostatic and steric interactions in DNA polymerase beta E295K mutant interfere with the enzyme's pathway. J Am Chem Soc 134: 9999–10010.
53. DoniganKA, SunKW, NemecAA, MurphyDL, CongX, et al. (2012) Human POLB gene is mutated in high percentage of colorectal tumors. Journal of Biological Chemistry 287: 23830–23839.
Štítky
Genetika Reprodukčná medicínaČlánok vyšiel v časopise
PLOS Genetics
2012 Číslo 11
- Je „freeze-all“ pro všechny? Odborníci na fertilitu diskutovali na virtuálním summitu
- Gynekologové a odborníci na reprodukční medicínu se sejdou na prvním virtuálním summitu
Najčítanejšie v tomto čísle
- Mechanisms Employed by to Prevent Ribonucleotide Incorporation into Genomic DNA by Pol V
- Inference of Population Splits and Mixtures from Genome-Wide Allele Frequency Data
- Zcchc11 Uridylates Mature miRNAs to Enhance Neonatal IGF-1 Expression, Growth, and Survival
- Histone Methyltransferases MES-4 and MET-1 Promote Meiotic Checkpoint Activation in