XPF/ERCC4 and ERCC1: Their products and biological roles

Advances in Experimental Medicine and Biology

Volumn 637, Issue , 2008, Pages 65-82

  McDaniel, Lisa D ^a   Schultz, Roger A ^b  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; COMPLEMENTARY DNA; EXCISION REPAIR CROSS COMPLEMENTING PROTEIN 1; EXCISION REPAIR CROSS COMPLEMENTING PROTEIN 4; NUCLEIC ACID BINDING PROTEIN; UNCLASSIFIED DRUG; XERODERMA PIGMENTOSUM F PROTEIN; DNA BINDING PROTEIN; ENDONUCLEASE; ERCC1 PROTEIN, HUMAN; XERODERMA PIGMENTOSUM GROUP F PROTEIN;

ALLELE; CELL MUTANT; CHO CELL; CLINICAL FEATURE; COMPLEX FORMATION; CROSS LINKING; DNA DAMAGE; DNA REPAIR; EXCISION REPAIR; GENE FREQUENCY; GENE OVEREXPRESSION; GENE SWITCHING; HUMAN; MOLECULAR CLONING; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; REVIEW; SKIN CANCER; TELOMERE; ULTRAVIOLET IRRADIATION; UNTRANSLATED REGION; XERODERMA PIGMENTOSUM; ANIMAL; DISEASE MODEL; PHYSIOLOGY;

ANIMALS; DISEASE MODELS, ANIMAL; DNA REPAIR; DNA-BINDING PROTEINS; ENDONUCLEASES; HUMANS;

EID: 60549085398     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-0-387-09599-8_8     Document Type: Review

References (189)

1. Sijbcrs AM, de Laat WL, Ariza RR et ai. Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease. Cell 1996; 86(5):811-822.
2. Sijbcrs AM, van Voorst Vadcr PC, Snoek JW et al. Homozygous R788W point mutation in the XPF gene of a patient with Xeroderma pigmentosum and late-onset neurologic disease. J Invest Dermatol 1998; 110(5):832-836.
3. Matsumura YC, Nishigori T, Yagi S et al. Characterization of molecular defects in xeroderma pigmentosum group F in relation to its clinically mild symptoms. Hum Mol Genet 1998; 7(6):969-974.
4. Kondo S, Mamada A, Miyamoto C et al. Late onset of skin cancers in 2 xeroderma pigmentosum group F siblings and a review of 30 Japanese Xeroderma pigmentosum patients in groups D, E and F. Photodcrmatol 1989; 6(2):89-95.
5. Arase S, Kozuka T, Tanaka K et al. A sixth complementation group in Xeroderma pigmcntosimi. Mutat Res 1979; 59(1):143-146.
6. Fujiwara Y, Ichihashi M, Uehara Y et al. Xeroderma pigmentosum groups C and F: additional assignments and a review of the subjects in Japan. J Radiat Res (Tokyo) 1985; 26(4):443-449.
7. Fujiwara Y, Uehara Y, Ichihashi M et al. Xeroderma pigmentosum complementation group F: more assignments and repair characteristics. Photochem Photobiol 1985; 41(5):629-634.
8. Hayakawa H, Ishizaki K, Inoue M et al. Repair of ultraviolet radiation damage in Xeroderma pigmentosum cells belonging to complementation group F. Mut Res 1981; 80(2) :381-388.
9. Nishigori C, Ishizaki K, Takebe H et al. A case of Xeroderma pigmentosum group F with late onset of clinical symptoms. Arch Dermatol 1986; 122(5):510-511.
10. Takebe H, Nishigori C, Satoh Y. Genetics and skin cancer of Xeroderma pigmentosum in Japan. Jpn J Cancer Res 1987; 78(11):1135-1143.
11. Yamamura K, Ichihashi M, Hiramoto T et al. Clinical and photobiological characteristics of Xeroderma pigmentosum complementation group F: a review of cases from Japan. Br J Dermatol 1989; 121(4):471-480.
12. Itoh T, Watanabe H, Yamaizumi M et al. A young woman with Xeroderma pigmentosiun complementation group F and a morphoeic basal cell carcinoma. Br J Dermatol 1995; 132(1): 122-127.
13. Moriwaki S, Nishigori C, Imamura S ct al. A case of Xeroderma pigmentosum complementation group F with neurological abnormalities. Br J Dermatol 1993; 128(l):91-94.
14. Norris PG, Hawk JL, Avery JA et al. Xeroderma pigmentosum complementation group F in a nonjapanese patient. J Am Acad Dermatol 1988; 18(5 Pt 2):1185-1188.
15. Zghal M, Fazaa B, Zghal A et al. A whole family affected by Xeroderma pigmentosum: clinical and genetic particularities. Ann Dermatol Venereol 2003; 130(1 Pt l):31-36.
16. Friedberg EC, Walker GC, Siede W et al. DNA repair and mutagenesis. 2nd ed. Washington DC: ASM Press, 2005.
17. Murray D, Vallee-Lucic L, Rosenberg E et al. Sensitivity of nucleotide excision repair-deficient human cells to ionizing radiation and cyclophosphamide. Anticancer Res 2002; 22(lA):21-26.
18. Hoy CA, Thompson LH, Mooney CL et al. Defective DNA cross-link removal in Chinese hamster cell mutants hypersensitive to bifunctional alkylating agents. Cancer Res 1985; 45(4): 1737-1743.
19. Collins AR. Mutant rodent cell lines sensitive to ultraviolet light, ionizing radiation and cross-linking agents: a comprehensive survey of genetic and biochemical characteristics. Mut Res 1993; 293(2):99-118.
20. Busch DB, van Vuuren H, de Wit J et al. Phenotypic heterogeneity in nucleotide excision repair mutants of rodent complementation groups 1 and 4. Mut Res 1997; 383(2):91-106.
21. Baumann B, Potash MJ, Kohler G. Consequences of frameshift mutations at the immunoglobulin heavy chain locus of the mouse. EMBO J 1985; 4(2):351-359.
22. Leeds P, Peltz SW, Jacobson A et al. The product of the yeast UPFl gene is required for rapid turnover of mRNAs containing a premature translational termination codon. Genes Dev 1991; 5(12A):2303-2314.
23. Nilsson G, Belasco JG, Cohen SN et al. Effect of premature termination of translation on mRNA stability depends on the site of ribosome release. Proc Natl Acad Sci USA 1987; 84(14):4890-4904.
24. Tian M, Shinkura R, Shinkura N et al. Growth retardation, early death and DNA repair defects in mice deficient for the nucleotide excision repair enzyme XPF. Mol Cell Biol, 2004; 24(3): 1200-1205.
25. Thompson LH, Brookman KW, Weber CA et aL Molecular cloning of the human nucleotide-excision-repair gene ERCC4. Proc Natl Acad Sci USA 1994; 91(15):6855-6859.
26. Brookman KW, Lamerdin JE, Thelen MP et al. ERCC4 (XPF) encodes a human nucleotide excision repair protein with eukaryotic recombination homologs. Mol Cell Biol 1996; 16(11):6553-6662.
27. Komori K, Fujikane R, Shinagawa H et al. Novel endonuclease in Archaea cleaving DNA with various branched structure. Genes Genet Syst 2002; 77(4):227-24l.
28. Enzlin JH, Scharer OD. The active site of the DNA repair endonuclease XPF-ERCCl forms a highly conserved nuclease motif EMBO J 2002; 21(8):2045-2053.
29. van Duin M, de Wit J, Odijk H et al. Molecular characterization of the human excision repair gene ERCC-1: cDNA cloning and amino acid homology with the yeast DNA repair gene RADIO. Cell 1986; 44(6):913-923.
30. Westerveld A, Hoeijmakers JH, van Duin M et al. Molecular cloning of a human DNA repair gene. Nature 1984; 310(5976) :425-429.
31. Su Al, Cooke MP, Ching KA et al. Large-scale analysis of the human and mouse transcriptomes. Proc Natl Acad Sci USA 2002; 99(7):4465-4470.
32. Mignone F, Gissi C, Liuni S et al. Untranslated regions of mRNAs. Genome Biol 2002; 3(3): REVIEWS0004.
33. Hughes MJ, Andrews DW. A single nucleotide is a sufficient 5' untranslated region for translation in an eukaryotic in vitro system. FEBS Letts 1997; 414(1): 19-22.
34. McWhir J, Selfiidge J, Harrison DJ et aL Mice with DNA repair gene (ERCC-1) deficiency have elevated levels of p53 liver nuclear abnormalities and die before weaning. Nat Genet 1993; 5 (3) :217-224.
35. Weeda G, Donker I, de Wit J et al. Disruption of mouse ERCCl results in a novel repair syndrome with growth failure, nuclear abnormalities and senescence. Curr Biol 1997; 7(6):427-439.
36. Kirschner K, Singh R, Prost S et al. Characterisation of Erccl deficiency in the liver and (Amst) 2006; in conditional Erccl-deficient primary hepatocytes in vitro. DNA Repair.
37. Schrader CE, Vardo J, Linehan E et al. Deletion of the nucleotide excision repair gene Erccl reduces immunoglobulin class switching and alters mutations near switch recombination junctions. J Exp Med 2004; 200(3):321-330.
38. Van Duin M, Hoeijmakers JH. Cloning of human repair genes by genomic DNA transfection. Ann 1st Super Sanita 1989; 25(1):131-142.
39. Quievryn G, Zhitkovich A. Loss of DNA-protein crosslinks from formaldehyde-exposed cells occurs through spontaneous hydrolysis and an active repair process linked to proteosome function. Carcinogenesis 2000; 21(8):1573-1580.
40. Zhang N, Zhang X, Peterson C et al. Differential processing of UV mimetic and interstrand crosslink damage by XPF cell extracts. Nucleic Acids Res 2000; 28(23):4800-4804.
41. Niedcrnhofer LJ, Essers J, Wceda G et al. The structure-specific endonuclease Erccl-Xpf is required for targeted gene replacement in embryonic stem cells. EMBO J 2001; 20(22):6540-6549.
42. de Vries A, van Oostrom CT, Hoftiuis FM et al. Increased susceptibility to ultraviolct-B and carcinogens of mice lacking the DNA excision repair gene XPA. Nature 1995; 377(6545): 169-173.
43. Nakane H, Takeuchi S, Yuba S et al. High incidence of ultraviolet-B-or chemical-carcinogcn-induced skin tumours in mice lacking the Xeroderma pigmentosum group A gene. Nature 1995; 377(6545):165-168.
44. Bailly V, Sommers CH, Sung P et al. Specific complex formation between proteins encoded by the yeast DNA repair and recombination genes RADl and RADIO. Proc Natl Acad Sci USA 1992; 89(17):8273-8277.
45. Bardweli AJ, BardwcU L, Tomkinson AE et al. Specific cleavage of model recombination and repair intermediates by the yeast Radl-RadlO DNA endonuclease. Science 1994; 265(5181):2082-2085.
46. BardwcU L, Cooper AJ, Friedberg EC. Stable and specific association between the yeast recombination and DNA repair proteins RADl and RADIO in vitro. Mol Cell Biol 1992; 12(7):3041-3049.
47. Schiestl RH, Prakash S. RADIO, an excision repair gene of Saccharomyces cercvisiae, is involved in the RADl pathway of mitotic recombination. Mol Cell Biol 1990; 10(6):2485-2491.
48. Park CH, Bessho T, Matsunaga T et al. Purification and characterization of the XPF-ERCCl complex of human DNA repair excision nuclease. J Biol Chem 1995; 270(39) :22657-22660.
49. van Vuuren AJ, Appeldoorn E, Odijk H et al. Evidence for a repair enzyme complex involving ERCCl and complementing activities of ERCC4, ERCCll and Xeroderma pigmentosum group F. EMBO J 1993; 12(9):3693-3701.
50. BiggerstafF M, Szymkowski DE, Wood RD. cocorrection of the ERCCl, ERCC4 and xeroderma pigmentosum group F DNA repair defects in vitro. EMBO J 1993; 12(9):3685-3692.
51. Reardon JT, Thompson LH, Sancar A. Excision repair in man and the molecular basis of Xeroderma pigmentosum syndrome. Cold Spring Harb Symp Quant Biol 1993; 58:605-617.
52. Busch D, Greiner C, Lewis K et al. Summary of complementation groups of UV-sensitive CHO cell mutants isolated by large-scale screening. Mutagenesis 1989; 4(5):349-354.
53. Gaillard PH, Wood RD. Activity of individual ERCCl and XPF subunits in DNA nucleotide excision repair. Nucleic Acids Res 2001; 29(4):872-829.
54. HoutsmuUer AB, Rademakers S, Nigg AL et al. Action of DNA repair endonuclease ERCCl/XPF in living cells. Science 1999; 284(5416):958-961.
55. Yagi T, Matsumura Y, Sato M et al. Complete restoration of normal DNA repair characteristics in group F Xeroderma pigmentosum cells by over-expression of transfccted XPF cDNA. Carcinogenesis 1998; 19(l):55-60.
56. Yagi T, Wood RD, Takebe H. A low content of ERCCl and a 120 kDa protein is a frequent feature of group F Xeroderma pigmentosimi fibroblast cells. Mutagenesis 1997; 12(l):41-44.
57. Bessho T, Sancar A, Thompson LH et al, Reconstitution of human excision nuclease with recombinant XPF-ERCCl complex. J Biol Chem 1997; 272(6):3833-3837.
58. Damia G, Guidi G, D'lncalci M. Expression of genes involved in nucleotide excision repair and sensitivity to cisplatin and melphalan in human cancer cell lines. Eur J Cancer 1998; 34(11): 1783-1788.
59. Park CH, Sancar A. Formation of a ternary complex by human XPA, ERCCl and ERCC4(XPF) excision repair proteins. Proc Natl Acad Sci USA 1994; 91(11):5017-21.
60. Moggs JG, Yarema KJ, Essigmann JM et al. Analysis of incision sites produced by human cell extracts and piurified proteins diuing nucleotide excision repair of a 1,3-intrastrand d(GpTpG)-cisplatin adduct. Biol Chem 1996; 271 (12):7177-7186.
61. Aboussekhra A, Biggcrstaff M, Shivji MK et al. Mammahan DNA nucleotide esrision repair reconstituted with purified protein components. Cell 1995; 80(6):859-868.
62. de Laat WL, Appeldoorn E, Jaspers NG et al. DNA structural elements required for ERCCl-XPF endonuclease activity. J Biol Chem 1998; 273(14):7835-7842.
63. Evans E, Moggs JG, Hwang JR et al. Mechanism of open complex and dual incision formation by human nucleotide excision repair factors. EMBO J 1997; 16(21):6559-6573.
64. Matsunaga T, Park CH, Bessho T et al. Replication protein A confers structure-specific endonuclease activities to the XPF-ERCCl and XPG subunits of human DNA repair excision nuclease. J Biol Chem 1996; 271(19):11047-11050.
65. O'Donovan A, Davies AA, Moggs JG et al. XPG endonuclease makes the 3' incision in human DNA nucleotide excision repair. Nature 1994; 371 (6496):432-435.
66. Li L, EUedge SJ, Peterson CA et al. Specific association between the human DNA repair proteins XPA and ERCCl, Proc Natl Acad Sci USA 1994; 91(11):5012-5016.
67. Li L, Peterson CA, Lu X et al. Mutations in XPA that prevent association with ERCCl are defective in nucleotide excision repair. Mol CeU Biol 1995; 15(4): 1993-1998.
68. Nagai A, Saijo M, Kuraoka I et al. Enhancement of damage-specific DNA binding of XPA by interaction with the ERCCl DNA repair protein. Biochem Biophys Res Commun 1995; 211(3):960-966.
69. Saijo M, Km-aoka I, Masutani C et al. Sequential binding of DNA repair proteins RPA and ERCCl to XPA in vitro. Nucleic Acids Res 1996; 24(23) :4719-4724.
70. Mu D, Hsu DS, Sancar A. Reaction mechanism of human DNA repair excision nuclease. J Biol Chem 1996; 271(14):8285-8294.
71. Wakasugi M, Reardon JT, Sancar A. The noncatalytic function of XPG protein during dual incision in human nucleotide excision repair. J Biol Chem 1997; 272(25):16030-16034.
72. Huang JC, Svoboda DL, Reardon J T et al. Human nucleotide excision nuclease removes thymine dimers from DNA by incising the 22nd phosphodiester bond 5 ' and the 6th phosphodiester bond 3' to the photodimer. Proc Natl Acad Sci USA 1992; 89(8):3664-3668.
73. Henricksen LA, Umbricht CB, Wold MS. Recombinant replication protein A: expression, complex formation and functional characterization. J Biol Chem 1994; 269(15):11121-11132.
74. Bochkarev A, Bochkareva E. From RPA to BRCA2: lessons from single-stranded DNA binding by the OB-fold. Curr Opin Struct Biol 2004; 14(l):36-42.
75. Coverley D, Kenny MK, Lane DP et al. A role for the human single-stranded DNA binding protein HSSB/RPA in an early stage of nucleotide excision repair. Nucleic Acids Res 1992; 20(15):3873-3880.
76. Guzdcr SN, Habraken Y, Sung P et al. Reconstitution of yeast nucleotide excision repair with purified Rad proteins, replication protein A and transcription factor TFIIH. J Biol Chem 1995; 270(22):12973-12976.
77. Mu D, Park CH, Matsimaga T et al. Reconstitution of himian DNA repair excision nuclease in a highly defined system. J Biol Chem 1995; 270(6):2415-2418.
78. de Laat WL, Sijbers AM, Odijk H et al. Mapping of interaction domains between human repair proteins ERCCl and XPE Nucleic Acids Res 1998; 26(18):4146-4152.
79. Nishino T, Komori K, Ishino Y et al. X-ray and biochemical anatomy of an archaeal XPF/Radl/Mus81 family nuclease: similarity between its endonuclcase domain and restriction enzymes. Structure 2003; ll(4):445-4457.
80. Chiu R, Boyle WJ, Meek J et al. The c-Fos protein interacts with c-Jun/AP-1 to stimulate transcription of AP-1 responsive genes. Cell 1988; 54(4):541-552.
81. Rauschcr FJ 3rd, Sambucetti LC, Curran T et al Common DNA binding site for Fos protein complexes and transcription factor AP-1. Cell 1988; 52(3):471-480.
82. Buscher M, Rahmsdorf HJ, Litfin M et al. Activation of the c-fos gene by UV and phorbol ester: different signal transduction pathways converge to the same enhancer element. Oncogene 1988; 3(3):301-311.
83. Dosch J, Kaina B. Induction of c-fos, c-jim, junB and jimD mRNA and AP-1 by alkylating mutagens in cells deficient and proficient for the DNA repair protein 06-mcthylguanine-DNA methyltransferase (MGMT) and its relationship to cell death, mutation induction and chromosomal instability. Oncogene 1996; 13(9): 1927-1935.
84. Cubits RM, Fairhurst JL. c-fos mRNA levels are increased by the cellular stressors, heat shock and sodium arscnite. Oncogene 1988; 3(2):163-168.
85. Hollander MC, Fornace AJ Jr. Induction of fos RNA by DNA-damaging agents. Cancer Res 1989; 49(7):1687-1692.
86. Muller R, Bravo R, Burckhardt J et al. Induction of c-fos gene and protein by growth factors precedes activation of c-myc. Nature 1984; 312(5996) :716-720.
87. Haas S, Kaina B. c-Fos is involved in the cellular defence against the genotoxic effect of UV radiation. Carcinogenesis 1995; 16(5):985-991.
88. Christmann M, Tomicic MT, Origer J et al. c-Fos is required for excision repair of UV-light induced DNA lesions by triggering the resynthcsis of XPF. Nuc Acids Res, 2006.
89. Mu D, Wakasugi M, Hsu DS et al. Characterization of reaction intermediates of human excision repair nuclease. J Biol Chem 1997; 272(46) :28971-28979.
90. McCutchen-Maloncy SL, Giannecchini CA, Hwang M H et al. Domain mapping of the DNA binding, endonuclease and ERCCl binding properties of the human DNA repair protein XPF. Biochemistry 1999; 38(29):9417-9425.
91. Kuraoka I, Kobertz WR, Ariza RR et al. Repair of an interstrand DNA cross-link initiated by ERCCl-XPF repair/recombination nuclease. J Biol Chem 2000; 275(34):26632-26636.
92. Roberts JA, Bell SD, White MF. An archaeal XPF repair endonuclease dependent on a heterotrimeric PCNA. Mol Microbiol 2003; 48(2):361-371.
93. Newman M, Murray-Rust J, Lally J et al. Structure of an XPF endonuclease with and without DNA suggests a model for substrate recognition. EMBO J 2005; 24(5):895-905.
94. Nishin T, Komori K, Ishino Y et al. Structural and functional analyses of an archacal XPF/Radl/Mus81 nuclease: asymmetric DNA binding and cleavage mechanisms. Structure (Camb) 2005; 1(8):1183-1192.
95. Tsodikov OV, Enzlin JH, Scharer OD et al. Crystal structure and DNA binding functions of ERCCl, a subunit of the DNA structure-specific endonuclease XPF-ERCCl. Proc Natl Acad Sci USA 2005; 102(32):11236-11241..
96. Riedl T, Hanaoka F, Egly JM. The comings and goings of nucleotide excision repair factors on damaged DNA. EMBO J 2003; 22(19):5293-5303.
97. Harlcss J. Hewitt RR. Intranuclear localization of UV-induced DNA repair in human VA13 cells. Mutat Res 1987; 183(2):177-184.
98. Jackson DA, Balajee AS, MuUenders L et al. Sites in human nuclei where DNA damaged by ultraviolet light is repaired: visuaUzation and localization relative to the nucleoskeleton. J Cell Sci 1994; 107(7):1745-1752.
99. McCrcady SJ, Cook PR. Lesions induced in DNA by ultraviolet light arc repaired at the nuclear cage. J Cell Sci 1984; 70:189-196.
100. Mullenders LH, van Kestcren van Leeuwen AC, van Zeeland AA et al. Nuclear matrix associated DNA is preferentially repaired in normal human fibroblasts, exposed to a low dose of ultraviolet light but not in Cockayne's syndrome fibroblasts. Nucleic Acids Res 1988; 16(22): 10607-10622.
101. Park MS, Knauf JA, Pendergrass SH et al.Ultraviolet-induced movement of the human DNA repair protein. Xeroderma pigmentosum type G, in the nucleus. Proc Natl Acad Sci USA, 1996; 93(16):8368-8373.
102. Lan L, Hayashi T, Rabcya RM et al. Functional and physical interactions between ERCCl and MSH2 complexes for resistance to cis- diamminedichloroplatinum(II) in mammalian cells. DNA Repair (Amst) 2004; 3(2):135-143.
103. Tian M, Alt FW. Transcription-induced cleavage of immunoglobulin switch regions by nucleotide excision repair nucleases in vitro. J Biol Chem 2000; 275(31):24163-24172.
104. Muramatsu M, Kinoshita K, Fagarasan S et al. Class switch recombination and hypermutation require activation-induced cytidine deaminase (AID), a potential RNA editing enzyme. Cell 2000; 102(5):553-563.
105. Revy P, Muto T, Levy Y et al. Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2). Cell 2000; 12(5):565-575.
106. Bransteitter R, Pham P, ScharfF MD et al. Activation-induced cytidine deaminase deaminates deoxycytidinc on single-stranded DNA but requires the action of RNase. Proc Natl Acad Sci USA 2003; 100(7):4102-4107.
107. Chaudhuri J, Tian M, Khuong C et al. Transcription-targeted DNA deamination by the AID antibody diversification enzyme. Nature 2003; 422(6933) :726-730.
108. Di Noia J, Neuberger MS. Altering the pathway of immunoglobulin hypermutation by inhibiting uracil-DNA glycosylase. Nature 2002; 419(6902) :43-48.
109. Petersen-Mahrt SK, Harris RS, Neuberger MS. AID mutates E. coli suggesting a DNA deamination mechanism for antibody diversification. Nature 2002; 418(6893):99-103.
110. Storb U, Stavnezer J. Immunoglobulin genes: generating diversity with AID and UNG. Curr Biol 2002; 12(21):R725-727.
111. Lawley PD, Phillips DH. DNA adducts from chemotherapeutic agents. Mutat Res 1996; 355(l-2):13-40.
112. Mumane JP, Byfield JE. Irreparable DNA cross-links and mammalian cell lethality with bifunctional alkylating agents. Chem Biol Interact 1981; 38(l):75-86.
113. Wijen JP, Nivard MJ, Vogcl EW. The in vivo genetic activity profile of the monofimctional nitrogen mustard 2-chlorocthylaminc diflFers drastically from its bifunctional counterpart mechlorethamine. Carcinogenesis 2000; 21(10):1859-1867.
114. Yaghi BM, Turner PM, Denny WA et al. Comparative mutational spectra of the nitrogen mustard chlorambucil and its half-mustard analogue in Chinese hamster AS52 cells. Mutat Res 1998; 401(1-2):153-164.
115. Vogel EW, Nivard MJ, Ballering LA et al. DNA damage and repair in mutagenesis and carcinogenesis: implications of structure-activity relationships for cross-species extrapolation. Mutat Res 1996; 353(1-2):177-218.
116. Bodell WJ, Aida T, Bcrger MS et al. Repair of 06-(2-clilorocthyl)guanine mediates the biological effects of chloroethylnitrosoureas. Environ Health Perspect 1985; 62:119-126.
117. Bodell WJ, Aida T, Rasmussen J. Comparison of sister-chromatid exchange induction caused by nitrosoureas that alkylate or alkylate and crosslink DNA. Mutat Res 1985; 149(1):95-100.
118. Tokuda K, Bodell WJ. Cytotoxicity and sister chromatid exchanges in 9L cells treated with monofimctional and bifunctional nitrogen mustards. Carcinogenesis 1987; 8(11):1697-1701.
119. Vogel EW, Nivard MJ. Performance of 181 chemicals in a Drosophila assay predominantly monitoring interchromosomal mitotic recombination. Mutagenesis 1993; 8(1):57-81.
120. McHugh PJ, Sarkar S. DNA interstrand cross-link repair in the cell cycle: a critical role for polymerase zeta in Gl phase. Cell Cycle 2006; 5(10): 1044-1047.
121. Sarkar S, Davies AA, Ulrich HD et al. DNA interstrand crosslink repair during Gl involves nucleotide excision repair and DNA polymerase zeta. EMBO J 2006; 25(6):1285-1294.
122. Cheng S, Van Houten B, Gamper HB et al. Use of psoralen-modified oligonucleotides to trap three-stranded RccA-DNA complexes and repair of these cross-linked complexes by ABC excinuclease. J Biol Chem 1988; 263(29):15110-15117.
123. Saffran WA, Ahmed S, Bellevue S et al. DNA repair defects channel interstrand DNA cross-links into alternate recombinational and error-prone repair pathways. J Biol Chem 2004; 279(35):36462-36469.
124. Islas AL, Baker FJ, Hanawalt PC. Transcription-coupled repair of psoralen cross-links but not monoadducts in Chinese hamster ovary cells. Biochemistry 1994; 3(35):10794-10799.
125. Islas AL, Vos JM, Hanawalt PC. Differential introduction and repair of psoralen photoadducts to DNA in specific human genes. Cancer Res 1991; 51(ll):2867-2873.
126. Zhang N, Lu X, Zhang X et al. hMutSbeta is required for the recognition and imcoupling of psoralen interstrand cross-links in vitro. Mol Cell Biol 2002; 22(7):2388-2397.
127. Meniel V, Magana-Schwencke N, Averbeck D. Preferential repair in Saccharomyces cerevisiae rad mutants after induction of interstrand cross-links by 8-methoxypsoralen plus UVA. Mutagenesis 1995; 10(6):543-548.
128. Miller RD, Prakash L, Prakash S. Genetic control of excision of Saccharomyces cerevisiae interstrand DNA cross-links induced by psoralen plus near-UV light. Mol Cell Biol 1982; 2(8):939-948.
129. Klein HL. Different types of recombination events are controlled by the RADl and RAD52 genes of Saccharomyces cerevisiae. Genetics 1988; 120(2) :367-377.
130. Klein HL. Genetic control of intrachromosomal recombination. BioEssays 1995; 17(2): 147-159.
131. Prado F, AguileraA. Role of reciprocal exchange, one-ended invasion crossover and single-strand annealing on inverted and direct repeat recombination in yeast: different requirements for the RADl, RADIO and RAD52 genes. Genetics 1995; 139(1):109-123.
132. Schiestl RH, Prakash S. RADl, an excision repair gene of Saccharomyces cerevisiae, is also involved in recombination. Mol Cell Biol 1988; 8(9) :3619-3626.
133. Saffran WA, Grcenberg RB, Thaler-Schccr MS et al. Single strand and double strand DNA damage-induced reciprocal recombination in yeast. Dependence on nucleotide excision repair and RADl recombination. Nucleic Acids Res 1994; 22(l4):2823-2829.
134. Colaiacovo MP, Paques F, Haber JE. Removal of one nonhomologous DNA end during gene conversion by a RADl- and MSH2-indepcndent pathway. Genetics 1999; 151(4): 1409-1423.
135. Fishman-Lobell J, Rudin N, Haber JE. Two alternative pathways of double-strand break repair that are kinetically separable and independendy modulated. Mol Cell Biol 1992; 12(3): 1292-1303.
136. Ivanov EL, Haber JE. RADl and RADIO, but not other excision repair genes, are required for double-strand break-induced recombination in Saccharomyces cerevisiae. Mol Cell Biol 1995; 15(4):2245-2251.
137. Paques F, Haber JE. Two pathways for removal of nonhomologous DNA ends during double-strand break repair in Saccharomyces cerevisiae. Mol Cell Biol 1997; 17(11):6765-6771.
138. Sugawara N, Paques F, Colaiacovo M et al. Role of Saccharomyces cerevisiae Msh2 and Msh3 repair proteins in double-strand break-induced recombination. Proc Natl Acad Sci USA 1997; 94(17):9214-9219.
139. De Silva lU, McHugh PJ, Clingen PH et al. Defining the roles of nucleotide excision repair and recombination in the repair of DNA interstrand cross-links in mammalian cells. Mol Cell Biol 2000; 20(21):7980-7990.
140. Niedernhofer LJ, Odijk H, Budzowska M et al. The structure-specific endonuclease Erccl-Xpf is required to resolve DNA interstrand cross-link-induced double-strand breaks. Mol Cell Biol 2004; 24(13):5776-5787.
141. Rothfiiss A, Grompe M. Repair kinetics of genomic interstrand DNA cross-links: evidence for DNA double-strand break-dependent activation of the Fanconi anemia/BRCA pathway Mol Cell Biol 2004; 24(1):123-134.
142. Redon C, Pilch D, Rogakou E et al.Histone H2A variants H2AX and H2AZ. Curr Opin Genet Dev 2002; 12(2): 162-169.
143. Thiriet C, Hayes JJ. Chromatin in need of a fix: phosphorylation of H2AX connects chromatin to DNA repair. Mol Cell 2005; 18(6):617-622.
144. Royer-Pokora B, Peterson WD Jr, Haseltine WA. Biological and biochemical characterization of an SV40-transformcd Xeroderma pigmentosum cell line. Exp Cell Res, 1984; 151 (2):408-420.
145. Yagi T, Takebe H. Establishment by SV40 transformation and characteristics of a cell line of Xeroderma pigmentosum belonging to complementation group F. Mutat Res 1983; 112(l):59-66.
146. Mogi S, Oh DH. Gamma-H2AX formation in response to interstrand crosslinks requires XPF in human cells. DNA Repair (Amst) 2006; 5(6):731-740.
147. Krcjci L, Chen L, Van Komen S et al. Mending the break: two DNA double-strand break repair machines in eukaryotes. Prog Nucleic Acid Res Mol Biol 2003; 74:159-201.
148. Symington LS. Role of RAD52 epistasis group genes in homologous recombination and double-strand break repair. Microbiol Mol Biol Rev 2002; 66(4):630-670, table of contents.
149. Jachymczyk WJ, von Borstel RC, Mowat MR et al. Repair of interstrand cross-links in DNA of Saccharomyces cerevisiae requires two systems for DNA repair: the RAD3 system and the RAD51 system. Mol Gen Genet 1981; 182(2):196-205.
150. McHugh PJ, Sones WR, Hartley JA. Repair of intermediate structures produced at DNA interstrand cross-links in Saccharomyces cerevisiae. Mol Cell Biol 2000; 20(10):3425-3433.
151. Liu N, Lamerdin JE, Tebbs RS et al. XRCC2 and XRCC3, new human Rad51-family members, promote chromosome stability and protect against DNA cross-links and other damages. Mol Cell 1998; l(6):783-793.
152. Rijkcrs T, Van Den Ouweland J, Morolli B et al. Targeted inactivation of mouse RAD52 reduces homologous recombination but not resistance to ionizing radiation. Mol Cell Biol 1998; 18(ll):6423-6429.
153. Yamaguchi-Iwai Y, Sonoda E, Buerstedde JM et al. Homologous recombination, but not DNA repair, is reduced in vertebrate cells deficient in RAD52. Mol Cell Biol 1998; 18(ll):6430-6435.
154. Motycka TA, Bessho T, Post SM et al. Physical and functional interaction between the XPF/ERCCl endonuclease and hRad52. J Biol Chem 2004; 279(14): 13634-13639.
155. Nairn RS, Adair GM, Christmann CB et al. Ultraviolet stimulation of intermolecular homologous recombination in Chinese hamster ovary cells. Mol Carcinog 1991; 4(6) :519-526.
156. Melton DW, Ketchen AM, Nunez F et al. Cells from ERCCl-deficient mice show increased genome instability and a reduced frequency of S-phase-dependent illegitimate chromosome exchange but a normal frequency of homologous recombination. J Cell Sci 1998; lll(3):395-404.
157. Sargent RG, Rolig RL, Kilburn AE et al. Recombination-dependent deletion formation in mammalian cells deficient in the nucleotide excision repair gene ERCCl. Proc Natl Acad Sci USA 1997; 94(24):13122-13127.
158. Sargent RG, Meservy JL, Perkins BD et al. Role of the nucleotide excision repair gene ERCCl in formation of recombination-dependent rearrangements in mammalian cells. Nucleic Acids Res 2000; 28(19):3771-3778.
159. Adair GM, Rolig RL, Moore-Faver D et al. Role of ERCCl in removal of long nonhomologous tails during targeted homologous recombination. EMBO J 2000; 19(20):5552-5561.
160. Damia G, Imperatori L, Stefanini M et al. Sensitivity of C H O mutant cell lines with specific defects in nucleotide excision repair to different anticancer agents. Int J Cancer 1996; 66(6) :779-783.
161. Kaye J, Smith CA, Hanawalt PC. DNA repair in human cells containing photoadducts of 8-methoxypsoralen or angelicin. Cancer Res 1980; 40(3):696-702.
162. Vuksanovic L, Cleaver JE. Unique cross-link and monoadduct repair characteristics of a Xeroderma pigmentosum revertant cell line. Mutat Res 1987; 184(3):255-263.
163. McHugh PJ, Spanswick VJ, Hartley JA. Repair of DNA interstrand crosslinks: molecular mechanisms and chnical relevance. Lancet Oncol 2001; 2(8):483-490.
164. Akkari YM, Bateman RL, Reifsteck CA et al. DNA replication is required To elicit cellular responses to psoralen-induced DNA interstrand cross-links. Mol Cell Biol 2000; 20(21):8283-8289.
165. Barker S, Weinfcld M, Murray D. DNA-protein crossUnks: their induction, repair and biological consequences. Mutat Res 2005; 589(2):111-135.
166. Murray D, Rosenberg E. The importance of the ERCCl/ERCC4[XPF] complex for hypoxic-cell radiorcsistance does not appear to derive from its participation in the nucleotide excision repair pathway. Mutat Res 1996; 364(3) :217-226.
167. Henderson ER, Blackburn EH. An overhanging 3 ' terminus is a conserved feature of telomeres. Mol Cell Biol 1989; 9(l):345-348.
168. Griffith JD, Comeau L, Roscnfield S et al. MammaUan telomeres end in a large duplex loop. Cell 1999; 97(4):503-514.
169. De Lange T. Telomere-related genome instabiUty in cancer. Cold Spring Harb Symp Quant Biol 2005; 70:197-204.
170. de Lange T. Sheltcrin: the protein complex that shapes and safeguards human telomeres. Genes Dev 2005; 19(18):2100-2110.
171. Munoz P, Blanco R, Blasco MA. Role of the TRF2 telomeric protein in cancer and ageing. Cell Cycle 2006; 5(7):718-721.
172. Greidcr CW, Blackburn EH. Hie telomere terminal transferase of Tetrahymena is a ribonucleoprotein enzyme with two kinds of primer specificity. Cell 1987; 51(6):887-898.
173. Chin L, Artandi SE, Shen Q et al. p53 deficiency rescues the adverse effects of telomere loss and cooperates with telomere dysfunction to accelerate carcinogenesis. Cell 1999; 97(4):527-538.
174. Karlseder J, Broccoli D, Dai Y et al. p53- and ATM-dependent apoptosis induced by telomeres lacking TRF2. Science 1999; 283(5406): 1321-1325.
175. van Steensel B, Smogorzewska A, de Lange T. TRF2 protects human telomeres from end-to-end fusions. Cell 1998; 92(3):401-413.
176. Smogorzewska A, Karlseder J, Holtgreve-Grez H et al. DNA ligase IV-dependent NHEJ of deprotected mammalian telomeres in Gl and G2. Curr Biol 2002; 12(19): 1635-1644.
177. Zhu XD, Niedernhofer L, Kuster B et al. ERCCl/XPF removes the 3' overhang from uncapped telomeres and represses formation of telomeric DNA-containing double minute chromosomes. Mol Cell 2003; 12(6):1489-1498.
178. Karlseder J, Smogorzewska A, de Lange T. Senescence induced by altered telomere state, not telomere loss. Science 2002; 295(5564):2446-2449.
179. Smogorzewska A, van Steensel B, Bianchi A et al. Control of human telomere length by TRFl and TRF2. Mol Cell Biol 2000; 20(5):1659-1668.
180. Munoz P, Blanco R, Flores JM et al. XPF nuclease-dependent telomere loss and increased DNA damage in mice overexpressing TRF2 result in premature aging and cancer. Nat Genet 2005; 37(10):1063-1071.
181. Celli GB, de Lange T. DNA processing is not required for ATM-mediated telomere damage response after TRF2 deletion. Nat Cell Biol 2005; 7(7):712-718.
182. Wii Y, Zacal NJ, Rainbow AJ et al. XPF with mutations in its conserved nuclease domain is defective in DNA repair but functions in TRF2-mediatcd telomere shortening DNA Repair (Amst), 2007. doi:10.1016/j.dnarep.2006.09.005.
183. Le Deist F, Poinsignon C, Moshous D et al. Artemis sheds new hght on V(D)J recombination. Immimol Rev 2004; 200:142-155.
184. Bonatto D, Revers LF, Brendel M et al. The eukaryotic Pso2/Snml/Artemis proteins and their fimction as genomic and cellular caretakers. Braz J Med Biol Res 2005; 8(3) :321-334.
185. Callebaut I, Moshous D, Mornon JP et al. Metallo-beta-lactamasc fold within nucleic acids processing enzymes: the bcta-CASP family. Nucleic Acids Res 2002; 30(16):3592-3601.
186. Bradshaw PS, Stavropoulos DJ, Mcyn MS. Human telomeric protein TRF2 associates with genomic double-strand breaks as an early response to DNA damage. Nat Genet 2005; 37(2): 193-197.
187. Opresko PL, von Kobbe C, Laine JP et al. Telomere-binding protein TRF2 binds to and stimulates the Werner and Bloom syndrome helicascs. J Biol Chem 2002; 277(43):41110-9.
188. Stavropoulos DJ, Bradshaw PS, Li X et al. The Bloom syndrome helicase BLM interacts with TRF2 in ALT cells and promotes telomeric DNA synthesis. Hum Mol Genet 2002; 11(25):3135-3144.
189. Nishigori C, Fujisawa H, Uyeno K et al. Xeroderma pigmentosum patients belonging to complementation group F and efficient liquid-holding recovery of ultraviolet damage. Photodermatol Photoimmunol Photomed 1991; 8(4): 146-150.