Xeroderma pigmentosum variant, XP-V: Its product and biological roles

Advances in Experimental Medicine and Biology

Volumn 637, Issue , 2008, Pages 93-102

  Masutani, Chikahide ^a   Hanaoka, Fumio ^a   Ahmad, Shamim I ^b  

^a OSAKA UNIVERSITY   (Japan)

^b NOTTINGHAM TRENT UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

4 HYDROXYEQUILENIN; CARBOPLATIN; CISPLATIN; CYTARABINE; DNA; DNA DIRECTED DNA POLYMERASE ETA; DNA POLYMERASE; DRUG METABOLITE; EQUILENIN; EQUILIN; GEMCITABINE; NUCLEIC ACID BINDING PROTEIN; NUCLEOTIDE; OXALIPLATIN; TAMOXIFEN; UBIQUITIN PROTEIN LIGASE; UNCLASSIFIED DRUG; XERODERMA PIGMENTOSUM GROUP A PROTEIN; XERODERMA PIGMENTOSUM GROUP B PROTEIN; XERODERMA PIGMENTOSUM GROUP C PROTEIN; XERODERMA PIGMENTOSUM GROUP D PROTEIN; XERODERMA PIGMENTOSUM GROUP E PROTEIN; XERODERMA PIGMENTOSUM GROUP F PROTEIN; XERODERMA PIGMENTOSUM GROUP G PROTEIN; XERODERMA PIGMENTOSUM V PROTEIN; DNA DIRECTED DNA POLYMERASE;

ANTINEOPLASTIC ACTIVITY; BIOLOGICAL ACTIVITY; BREAST CANCER; CANCER RISK; COCKAYNE SYNDROME; DNA CROSS LINKING; DNA REPLICATION; DNA STRUCTURE; DNA SYNTHESIS; DRUG DNA INTERACTION; ENZYME ACTIVITY; ENZYME STRUCTURE; EXCISION REPAIR; GENE IDENTIFICATION; GENE MUTATION; GENE STRUCTURE; GENETIC ASSOCIATION; GENETIC COMPLEMENTATION; GENETIC VARIABILITY; HOMOLOGOUS RECOMBINATION; HORMONE SUBSTITUTION; HUMAN; LENTIGO; MOLECULAR DYNAMICS; MOLECULAR INTERACTION; MOLECULAR MODEL; MUTAGENESIS; NONHUMAN; PHENOTYPE; PHOTOPHOBIA; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN INTERACTION; PROTEIN PROTEIN INTERACTION; REVIEW; RNA TRANSLATION; SEQUENCE HOMOLOGY; SOMATIC MUTATION; TRICHOTHIODYSTROPHY; XERODERMA PIGMENTOSUM; ANIMAL; DNA REPAIR; PHYSIOLOGY;

ANIMALS; DNA REPAIR; DNA-DIRECTED DNA POLYMERASE; HUMANS;

EID: 60549095180     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-0-387-09599-8_10     Document Type: Review

References (80)

1. Hebra F, Kaposi M. On diseases of the skin, including the exanthemata. New Sydenham Soc 1874; 61:252-258.
2. Rothwcll PJ, Waksman G. Structure and mechanisms of DNA polymerases. Adv Protein Chem 2005; 71:401-440.
3. Pavlov YI, Shcherbakova PV, Rogozin IB. Roles of DNA polymerases in replication, repair and recombination in eukaryotes. Int Rev Cytol 2006; 255:41-132.
4. Sweasy JB, Lauper JM, Eckert KA. DNA polymerases and human diseases. Radiat Res 2006; 166:693-714.
5. Yamada A, Masutani C, Iwai S et al. Complementation of defective translesion synthesis and UV light sensitivity in xeroderma pigmentosum variant cells by human and mouse DNA polymerase μ. NUC Acids Res 2000; 28:2473-2480.
6. Ishikawa T, Uematsu N, Mizukoshi T et al. Mutagenic and nonmutagenic bypass of DNA lesions by Drosophila DNA polymerases dpolr] and dpoli. J Biol Chem 2001; 276:15155-15163.
7. Santiago MJ, Alejandre-Duran E, Ruiz-Rubio M. Analysis of UV-induced mutation spectra in Escherichia coli by DNA polymerase μ from Arabidopsis thaliana. Mut Res 2006; 601:51-60.
8. Boudsocq F, Iwai S, Hanaoka F et al. Sulfolobus solfataricus P2 DNA polymerase IV (Dpo4): an archaeal DinB-like DNA polymerase with lesion-bypass properties akin to eukaryotic pol μ. Nucleic Acids Res 2001; 29:4607-4616.
9. Madril AC, Johnson RE, Washington MT et al, Fidelity and damage bypass ability of Schizosaccharomyces pombe Esol protein, comprised of DNA polymerase eta and sister chromatid cohesion protein Ctf7. J Biol Chem 2001; 276:42857-42862.
10. Tanaka K, Yonckawa T, Kawasaki Y et al. Fission yeast Esolp is required for establishing sister chromatid cohesion during S phase. Mol Cell Biol 2000; 20:3459-3469.
11. Ohmori H, Friedberg E, Fuchs RPP et al. The Y family of DNA polymerases. Molec Cell 2001; 8:7-8.
12. Goodman MF. Error-prone repair DNA polymerases in prokaryotes and eukaryotes. Ann Rev Biochem 2002; 71:17-50.
13. Masutani C, Araki M, Yamada A et al. Xeroderma pigmentosum variant (XP-V) correcting protein from HeLa cells has a thymine dimer bypass DNA polymerase activity, EMBO J 1999; 18:3491-3501.
14. Masutani C, Kusumoto R, Yamada A et al. The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase μ. Nature 1999; 399:700-704.
15. Yuasa M, Masutani C, Eki T et al. Genomic structure, chromosomal localization and identification of mutations in the xeroderma pigmentosum variant (XPV) gene. Oncogene 2000; 19:4721-4728.
16. Gratchev A, Strein P, Utikal J. Molecular genetics of Xeroderma pigmentosum variant. Expt Dermatol 2003; 12:529-536.
17. Kannouche P, Fernandez de Henestrosa AR, Coull B et al. Localization of DNA polymerases μ and τ to the replication machinery is tightly co-ordinated in human cells. EMBO J 2003; 22:1223-1233.
18. Kannouche PL, Wing J, Lehmann AR. Interaction of human DNA polymerase μ with monoubiquitinated PCNA: a possible mechanism for the polymerase switch in response to DNA damage. Mol Cell 2004; 14:491-500.
19. Ohashi E, Murakumo Y, Kanjo N et al. Interaction of hREVl with three human Y-family DNA polymerases. Genes Cells 2004; 9:523-531.
20. Watanabe K, Tateishi S, Kawasuji M et al. Radl8 guides pol μ to replication stalling sites through physical interaction and PCNA monoubiquitination. EMBO J 2004; 23:3886-3896.
21. Bienko M, Green CM, Crosetto N et al. Ubiquitin-binding domains in Y-family polymerases regulate translesion synthesis. Science 2005; 310:1821-1824.
22. Trincao J, Johnson RE, Escalante CR et al. Structure of the catalytic core of S. cerevisiae DNA polymerase μ: implications for translesion DNA synthesis. Mol Cell 2001; 8:417-426.
23. Matsuda T, Bebenek K, Masutani C et al. Low fidelity DNA synthesis by human DNA polymerase μ. Nature 2000; 404:1011-1013.
24. Johnson RE, Washington MT, Prakash S et al. Fidelity of human DNA polymerase μ. J Biol Chem 2000; 275:7447-7450.
25. Kusumoto R, Masutani C, Shimmyo S et al. DNA binding properties of human DNA polymerase μ: implications for fidelity and polymerase switching of translesion synthesis. Genes Cells 2004; 9:1139-1150.
26. McCuUoch SD, Kokoska RJ, Masutani C et al. Preferential cis-syn thymine dimer bypass by DNA polymerase μ occurs with biased fidelity. Nature 2004; 428:97-100.
27. Zeng X, Winter DB, Kasmer C et al. DNA polymerase μ is an A-T mutator in somatic hypermutation of immunoglobulin variable genes. Nat Immunol 2001; 2:537-541.
28. Rogozin IB, Pavlov YI, Bebenek K et al. Somatic mutation hotspots correlate with DNA polymerase μ error spectrum. Nat Immunol 2001; 2:530-536.
29. Mcllwraith MJ, Vaisman A, Liu Y et al. Human DNA polymerase μ promotes DNA synthesis from strand invasion intermediates of homologous recombination. Mol Cell 2005; 20:783-792.
30. Kawamoto T, Araki K, Sonoda E et al. Dual roles for DNA polymerase μ in homologous DNA recombination and translesion DNA synthesis. Mol Cell 2005; 20:793-799.
31. Haracska L, Prakash S, Prakash L. Replication past 0(6)-methylguanine by yeast and human DNA polymerase μ. Mol Cell Biol 2000; 20:8001-8007.
32. Kusumoto R, Masutani C, Iwai S et al. Translesion synthesis by human DNA polymerase μ across thymine glycol lesions. Biochemistry 2002; 41:6090-6099.
33. Choi JY, Guengerich FP. Adduct size limits efficient and error-free bypass across bulky N2-guanine DNA lesions by human DNA polymerase μ. J Mol Biol 2005; 352:72-90.
34. Choi JY, Chowdhury G, Zang H. Translesion synthesis across 06-alkylguanine DNA adducts by recombinant human DNA polymerases. J Biol Chem 2006; 281:38244-38256.
35. Choi JY, Zang H, Angel KC et al. Translesion synthesis across 1, N2-ethanoguanine by human DNA polymerases, Chem Res Toxicol 2006; 19:879-886.
36. Choi JY, Stover JS, Angel KC et al. Biochemical basis of genotoxicity of heterocyclic arylamine food mutagens: Human DNA polymerase eta selectively produces a two-base deletion in copying the N2-guanyl adduct of 2-amino-3-methylimidazo[4,5-f]quinoline but not the C8 adduct at the Narl G3 site. J Biol Chem 2006; 281:25297-25306.
37. Perrino FW, Harvey S, Blans P et al. Polymerization past the N2-isopropylguanine and the N6-isopropyladenine DNA lesions with the translesion synthesis DNA polymerases μ and τ and the replicative DNA polymerase α. Chem Res Toxicol 2005; 18:1451-1461.
38. Masutani C, Kusumoto R, Iwai S ct al. Mechanisms of accurate translcsion synthesis by human DNA polymerase μ. EMBO J 2000; 19:3100-3109.
39. Vaisman A, Takasawa K, Iwai S ct al. DNA polymerase i-dcpendcnt translesion rephcation of uracil containing cyclobutane pyrimidine dimcrs. DNA Repair (Amst) 2006; 5:210-218.
40. Albertella MR, Green CM, Lehmann AR et al. A role for polymerase μ in the cellular tolerance to cisplatin-induced damage. Cancer Res 2005; 65:9799-9806.
41. Chen YW, Cleaver JE, Hanaoka F et al. A novel role of DNA polymerase μ in modulating cellular sensitivity to chemotherapeutic agents. Mol Cancer Res 2006; 4:257-265.
42. Yasui M, Suzuki N, Laxmi YR et al. Translesion synthesis past tamoxifen-derived DNA adducts by human DNA polymerases μ and K. Biochemistry 2006; 45:12167-12174.
43. Suzuki N, Yasui M, Santosh Laxmi YR et al. Translesion synthesis past equine estrogen-derived 2'-deoxycytidine DNA adducts by human DNA polymerases μ and κ. Biochemistry 2004; 43:11312-11320.
44. Yasui M, Laxmi YR, Ananthoju SR et al. Translcsion synthesis past equine estrogen-derived 2'-dcoxyadenosine DNA adducts by human DNA polymerases μ and κ. Biochemistry 2006; 45:6187-6194.
45. Vu B, Cannistraro VJ, Sun L et al. DNA synthesis past a 5-methylC-containing cis-syn-cyclobutane pyrimidine dimcr by yeast pol μ is highly nonmutagenic. Biochemistry 2006; 45:9327-9335.
46. Kokoska RJ, McCuUoch SD, Kunkel TA. The efficiency and specificity of apurinic/apyrimidinic site bypass by human DNA polymerase μ and Sulfolobus solfataricus Dpo4. J Biol Chem 2003; 278:50537-50545.
47. Barone F, McCuUoch SD, Macphcrson P ct al. Replication of 2-hydroxyadcnine-containing DNA and recognition by human MutSa. DNA Repair (Amst) 2007; 6:355-366.
48. Shimizu M, Gruz P, Kamiya H et al. Efficient and erroneous incorporation of oxidized DNA precursors by human DNA polymerase μ. Biochemistry 2007; 46:5515-5522.
49. Maher VM, Ouellette LM, Curren RD et al. Frequency of ultraviolet Ught-induccd mutations is higher in xeroderma pigmentosum variant cells than in normal human cells. Nature 1976; 261:593-595.
50. Maher VM, Ouellette LM, Curren RD ct al. Caffisine enhancement of the cytotoxic and mutagenic effect of ultraviolet irradiation in a xeroderma pigmentosum variant strain of human cells. Biochem Biophys Res Commun 1976; 71:228-234.
51. Broughton BC, Cordonnier A, Kleijer WJ et al. Molecular analysis of mutations in DNA polymerase μ in Xeroderma pigmentosum-variant patients. Proc Natl Acad Sci USA 2002; 99:815-820.
52. Johnson RE, Kondratick CM, Prakash S et al. hRAD30 mutations in the variant form of Xeroderma pigmentosiun. Science 1999; 285:263-265.
53. Glick E, White LM, Elliott NA et al. Mutations in DNA polymerase μ are not detected in squamous cell carcinoma of the skin, Int J Cancer 2006; 119:2225-2227.
54. Murakumo Y, Ogura Y, Ishii H et al. Interactions in the error-prone post-replication repair proteins hREVl, hREV3 and hREV7. J Biol Chem 2001; 276:35644-35651.
55. Masuda Y, Ohmae M, Masuda K et al. Structure and enzymatic properties of a stable complex of the human REVl and REV7 proteins. J Biol Chem 2003; 278:12356-12360.
56. Tissier A, Kannouche P, Reck MP ct al. Colocalization in replication foci and interaction of human Y-family members, DNA polymerase pol μ and REVl protein. DNA Repair (Amst) 2004; 3:1503-1514.
57. Clark DR, Zacharias W, Panaitescu L et al. Ribozyme-mediated REVl inhibition reduces the frequency of UV-induced mutations in the human HPRT gene. Nucleic Acids Res 2003; 31:4981-4988,
58. Wang Y, Woodgatc R, McManus TP ct al. Evidence that in Xeroderma pigmentosum variant cells, which lack DNA polymerase μ DNA polymerase τ causes the very high frequency and unique spectrum of UV-induced mutations. Cancer Res 2007; 67:3018-3026.
59. Vaisman A, Masutani C, Hanaoka F et al. Efficient translesion replication past oxaliplatin and cisplatin GpG adducts by human DNA polymerase μ. Biochemistry 2000; 39:4575-4580.
60. Bomar MG, Pai MT, Tzcng SR et al. Structure of the ubiquitin-binding zinc finger domain of human DNA Y-polymerase μ. EMBO Rep 2007; 8:247-251.
61. Plosky BS, Vidal AE, Fernandez de Henestrosa AR et al. Controlling the subcellular localization of DNA polymerases i and μ via interactions with ubiquitin. EMBO J 2006; 25:2847-2855.
62. Bi X, Barkley LR, Slater DM et al. Radl8 regidates DNA polymerase κ and is required for recovery from S-phase checkpoint-mediated arrest. Mol Cell Biol 2006; 26:3527-3540.
63. Guo C, Tang TS, Bienko M et al. Ubiquitin-binding motifs in REVl protein are required for its role in the tolerance of DNA damage. Mol Cell Biol 2006; 26:8892-8900.
64. Hoege C, Pfander B, Moldovan GL et al. RAD6-dependent DNA repair is linked to modification of PCNA by ubiquitin and SUMO. Nature 2002; 419:135-141.
65. Nakajima S, Lan L, Kanno S et al. Replication dependent andindependent responses of RAD 18 to DNA damage in human ceUs. J Biol Chem 2006; 281:34687-34695.
66. Yuasa MS, Masutani C, Hirano A ct al. A human DNA polymerase μ complex containing Radl8, Rad6 and Rcvl; protcomic analysis and targeting of the complex to the chromatin-bound fraction of cells undergoing replication fork arrest. Genes Cells 2006; 11:731-744.
67. Lin Q, Clark AB, McCuUoch SD et al. Increased susceptibility to UV-induced skin carcinogenesis in polymerase μ-deficient mice. Cancer Res 2006; 66:87-94.
68. McDonald JP, Rapic-Otrin V, Epstein JA et al. Novel human and mouse homologs of Saccharomyces ccrevisiae DNA polymerase eta. Genomic 1999; 60:20-30.
69. Itoh T, Linn S, Kamide R et al. Xeroderma pigmentosum variant heterozygotes show reduced levels of recovery of replicative DNA synthesis in the presence of caffeine after ultraviolet irradiation. J Invest Dermatol 2000; 115:981-985.
70. Ohkumo T, Kondo Y, Yokoi M et al. UVB radiation induces epithelial tumors in mice lacking DNA polymerase T) and mesenchymal tumors in mice deficient for DNA polymerase τ. Mol Cell Biol 2006; 26:7696-7706.
71. Dumstorf CA, Clark AB, Lin Q et al. Participation of mouse DNA polymerase τ in strand-biased mutagenic bypass of UV photoproducts and suppression of skin cancer. Proc Natl Acad Sci, USA 2006; 103:18083-18088.
72. Martomo SA, Yang WW, Wersto RP et al. Different mutation signatures in DNA polymerase μ- and MSH6-deficient mice suggest separate roles in antibody diversification. Proc Natl Acad Sci, USA 2005; 102:8656-8661.
73. Delbos F, De Smet A, Faili A et al. Contribution of DNA polymerase eta to immunioglobulin gene hypermutation in the mouse. J Expt Med 2005; 201:1191-1196.
74. Wilson TM, Vaisman A, Martomo SA ct al. MSH2-MSH6 stimulates DNA polymerase μ, suggesting a role for A:T mutations in antibody genes. J Exp Med 2005; 201:637-645.
75. Yuan F, Zhang Y, Rajpal DK et al. Specificity of DNA lesion bypass by the yeast DNA polymerase μ. J Biol Chem 2000; 275:8233-8239.
76. Washington MT, Johnson RE, Prakash S et al. Accuracy of thymine-thymine dimer bypass by Saccharomyces cerevisiae DNA polymerase μ. Proc Natl Acad Sci, USA 2000; 97:3094-3099.
77. Skoneczna A, Mclntyre J, Skoneczny M et al. Polymerase μ is a short-lived, proteasomally degraded protein that is temporarily stabilized following UV irradiation in Saccharomyces cerevisiae. J Mol Biol 2007; 366:1074-1086.
78. Abdulovic AL, Jinks-Robertson S. The in vivo characterization of translesion synthesis across UV-induced lesions in Saccharomyces cerevisiae: insights into Pol ζ- and Pol μ-dependent frameshift mutagenesis. Genetics 2006; 172:1487-1498.
79. Ohkumo T, Masutani C, Eki T et al. Deficiency of the Caenorhabditis elegans DNA polymerase μ homologue increases sensitivity to UV radiation during germ-line development. Cell Struct Funct 2006; 31:29-37.
80. Broughton BC, Cordonier A, Kleijer et al. Molecular analysis of mutations in DNA polymerase in Xeroderma pigmentosum-variant patients. Proc Natl Acad Sci USA 2002; 99:815-820.