DNA damage processing defects and disease

Annual Review of Genomics and Human Genetics

Volumn 2, Issue , 2001, Pages 41-68

  Moses, Robb E ^a  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

Cancer; DNA repair; Genomic stability; Mutagenesis; Recombination

Indexed keywords

ADENOMATOUS POLYP; ATAXIA TELANGIECTASIA; AUTOSOMAL RECESSIVE DISORDER; BASAL CELL NEVUS SYNDROME; BLOOM SYNDROME; BREAST CANCER; CELL CYCLE; CELL VIABILITY; COCKAYNE SYNDROME; COLORECTAL CANCER; COWDEN SYNDROME; DNA DAMAGE; DNA REPAIR; FAMILIAL CANCER; FANCONI ANEMIA; GENE MUTATION; GENE REPLICATION; GENETIC DISORDER; GENETIC RECOMBINATION; GENETIC STABILITY; GENETIC TRANSCRIPTION; HUMAN; MUTAGENESIS; NEUROFIBROMATOSIS; NIJMEGEN BREAKAGE SYNDROME; PHENOTYPE; REVIEW; ROTHMUND THOMSON SYNDROME; TRICHOTHIODYSTROPHY; VON HIPPEL LINDAU DISEASE; WERNER SYNDROME; XERODERMA PIGMENTOSUM;

CELL CYCLE; DNA DAMAGE; DNA REPAIR; GENES, DOMINANT; GENES, RECESSIVE; GENOME, HUMAN; HUMANS; RECOMBINATION, GENETIC;

ATAXIA; ATAXIA TELANGIECTASIA;

EID: 0035774922     PISSN: 15278204     EISSN: None     Source Type: Book Series    
DOI: 10.1146/annurev.genom.2.1.41     Document Type: Review

References (191)

1. Aaltonen LA, Peltomaki P, Leach F, Sistonen P, Pylkkanen SM, et al. 1993. Clues to the pathogenesis of familial colorectal cancer. Science 260:812-16
2. Agami R, Bemards R. 2000. Distinct initiation and maintenance mechanisms cooperate to induce G1 cell cycle arrest in response to DNA damage. Cell 102:55-66
3. Akkari YM, Bateman RL, Reifsteck CA, Olson SB, Grompe M. 2000. DNA replication is required to elicit cellular responses to psoralen-induced DNA interstrand cross-links. Mol. Cell. Biol. 20:8283-89
4. Alter BP, Caruso JP, Drachtman RA, Uchida T, Vlagaleti GV, Elghetany MT. 2000. Fanconi anemia: Myelodysplasia as a predictor of outcome. Cancer Genet. Cytogenet. 117:125-31
5. Andrews AD, Barrett SF, Robbins JH. 1978. Xeroderma pigmentosum neurological abnormalities correlate with colony-forming ability after ultraviolet radiation. Proc. Natl. Acad. Sci. USA 75:1984-88
6. Andrews AD, Barrett SF, Yoder FW, Robbins JH. 1978. Cockayne's syndrome fibroblasts have increased sensitivity to ultraviolet light but normal rates of unscheduled DNA synthesis. J. Invest. Dermatol. 70:237-39
7. Athma P, Rappaport R, Swift M. 1996. Molecular genotyping shows that ataxiatelangiectasia heterozygotes are predisposed to breast cancer. Cancer Genet. Cytogenet. 92:130-34
8. Auerbach AD, Adler B, Chaganti RS. 1981. Prenatal and postnatal diagnosis and carrier detection of Fanconi anemia by a cytogenetic method. Pediatrics 67:128-35
9. Auerbach AD, Buchwald M, Joenje H. 1998. Fanconi anemia. In The Genetic Basis of Human Cancer, ed. B Vogelstein, KW Kinzler, pp. 317-32. New York: McGraw-Hill
10. Beckman KB, Ames BN. 1997. Oxidative decay of DNA. J. Biol. Chem. 272:19633-36
11. Bell DW, Varley JM, Szydlo TE, Kang DH, Wahrer DC, et al. 1999. Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. Science 286:2528-31
12. Bhattacharyya A, Ear US, Koller BH, Weichselbaum RR, Bishop DK. 2000. The breast cancer susceptibility gene BRCA1 is required for subnuclear assembly of Rad51 and survival following treatment with the DNA cross-linking agent cisplatin. J. Biol. Chem. 275:23899-903
13. Borde V, Goldman ASH, Lichten M. 2000. Direct coupling between meiotic DNA replication and recombination initiation. Science 290:806-9
14. Bronner CE, Baker SM, Morrison PT, Warren G, Smith LG, et al. 1994. Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature 368:258-61
15. Broughton BC, Thompson AF, Harcourt SA, Vermeulen W, Hoeijmakers JH, et al. 1995. Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome. Am. J. Hum. Genet. 56:167-74
16. Buermeyer AB, Deschenes SM, Baker SM, Liskay RM. 1999. Mammalian DNA mismatch repair. Annu. Rev. Genet. 33:533-64
17. Cadet J, Berger M, Douki T, Ravanat JL. 1997. Oxidative damage to DNA: Formation, measurement, and biological significance. Rev. Physiol. Biochem. Pharmacol. 131:1-87
18. Cahill DP, Kinzler KW, Vogelstein B, Lengauer C. 1999. Genetic instability and darwinian selection in tumours. Trends Cell. Biol. 9:M57-60
19. Chakraverty RK, Hickson ID. 1999. Defending genome integrity during DNA replication: A proposed bioessays role for RecQ family helicases. BioEssays 21:286-94
20. Chen J, Silver DP, Walpita D, Cantor SB, Gazdar AF, et al. 1998. Stable interaction between the products of the BRCA1 and BRCA2 tumor suppressor genes in mitotic and meiotic cells. Mol. Cells 2:317-28
21. Chen M, Tomkins DJ, Auerbach W, McKerlie C, Youssoufian H, et al. 1996. Inactivation of Fac in mice produces inducible chromosomal instability and reduced fertility reminiscent of Fanconi anaemia. Nat. Genet. 12:448-51
22. Cleaver JE, Kraemer KH. 1995. Xeroderma pigmentosum and Cockayne syndrome. In The Metabolic and Molecular Bases of Inherited Disease, ed. CR Scriver, AL Beaudet, WS Sly, D Valle, JB Stanbury, et al. 148:4393-19. New York: McGraw-Hill
23. Cleaver JE. 1968. Defective repair replication of DNA in xeroderma pigmentosum. Nature 218:652-56
24. Cleaver JE. 1998. Hair today, gone tomorrow: Transgenic mice with human repair deficient hair disease. Cell 93:1099-102
25. Cooper PK, Nouspikel T, Clarkson SG, Leadon SA. 1997. Defective transcription-coupled repair of oxidative base damage in Cockayne syndrome patients from XP group G. Science 275:990-93
26. Cortez D, Wang Y, Qin J, Elledge SJ. 1999. Requirement of ATM-dependent phosphorylation of BRCA1 in the DNA damage response to double-strand breaks. Science 286:1162-66
27. Courcelle J, Carswell-Crumpton C, Hanawalt PC. 1997. recF and recR are required for the resumption of replication at DNA replication forks in Escherichia coli. Proc. Natl. Acad. Sci. USA 94:3714-19
28. Cox MM, Goodman MF, Kreuzer KN, Sherratt DJ, Sandler SJ, Marians KJ. 2000. The importance of repairing stalled replication forks. Nature 404:37-41
29. Curry CJ, O'Lague P, Tsai J, Hutchison HT, Jaspers NG, et al. 1989. ATFresno: A phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome. Am. J. Hum. Genet. 45:270-75
30. D'Andrea AD, Grompe M. 1997. Molecular biology of Fanconi anemia: Implications for diagnosis and therapy. Blood 90:1725-36
31. de Boer J, de Wit J, van Steeg H, Berg RJ, Morreau H, et al. 1998. A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy. Mol. Cells 1:981-90
32. de Boer J, Donker I, de Wit J, Hoeijmakers JH, Weeda G. 1998. Disruption of the mouse xeroderma pigmentosum group D DNA repair/basal transcription gene results in preimplantation lethality. Cancer Res. 58:89-94
33. De Weerd-Kastelein EA, Keijzer W, Bootsma D. 1972. Genetic heterogeneity of xeroderma pigmentosum demonstrated by somatic cell hybridization. Nat. New Biol. 238:80-83
34. De Weerd-Kastelein EA, Keijzer W, Rainaldi G, Bootsma D. 1977. Induction of sister chromatid exchanges in xeroderma pigmentosum cells after exposure to ultraviolet light. Mutat. Res. 45:253-61
35. de Winter JP, Leveille F, van Berkel CG, Rooimans MA, van Der Weel L, et al. 2000. Isolation of a cDNA representing the Fanconi anemia complementation group E gene. Am. J. Hum. Genet. 67:1306-8
36. de Winter JP, Rooimans MA, van Der Weel L, van Berkel CG, Alon N, et al. 2000. The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM. Nat. Genet. 24:15-16
37. de Winter JP, Waisfisz Q, Rooimans MA, van Berkel CG, Bosnoyan-Collins L, et al. 1998. The Fanconi anaemia group G gene FANCG is identical with XRCC9. Nat. Genet. 20:281-83
38. Deng C-X, Brodie SG. 2000. Roles of BRAC1 and its interacting proteins. BioEssays 22:728-37
39. Dianov GL, Prasad R, Wilson SH, Bohr VA. 1999. Role of DNA polymerase beta in the excision step of long patch mammalian base excision repair. J. Biol. Chem. 274:13741-43
40. Dronkert ML, de Wit J, Boeve M, Vasconcelos ML, van Steeg H, et al. 2000. Disruption of mouse SNM1 causes increased sensitivity to the DNA interstrand cross-linking agent mitomycin C. Mol. Cell. Biol. 20:4553-61
41. Duckett DR, Bronstein SM, Taya Y, Modrich P. 1999. hMutS alpha- and HmutL alpha-dependent phosphorylation of p53 in response to DNA methylator damage. Proc. Natl. Acad. Sci. USA 96:12384-88
42. Dutrillaux B, Aurias A, Dutrillaux AM, Buriot D, Prieur M. 1982. The cell cycle of lymphocytes in Fanconi anemia. Hum. Genet. 62:327-32
43. Eker AP, Yajima H, Yasui A. 1994. DNA photolyase from the fungus Neurospora crassa. Purification, characterization and comparison with other photolyases. Photochem. Photobiol. 60:125-33
44. Elledge SJ. 1996. Cell cycle checkpoints: Preventing an identity crisis. Science 274:1664-72
45. Ellis NA, Groden J, Ye TZ, Straughen J, Lennon DJ, et al. 1995. The Bloom's syndrome gene product is homologous to RecQ helicases. Cell 83:655-66
46. Epstein CJ, Martin GM, Schultz AL, Motulsky AG. 1966. Werner's syndrome: A review of its symptomatology, natural history, pathologic features, genetics and relationship to the natural aging process. Medicine 45:177-221
47. Flores-Rozas H, Clark D, Kolodner RD. 2000. Proliferating cell nuclear antigen and Msh2p-Msh6p interact to form an active mispair recognition complex. Nat. Genet. 26:375-78
48. Foe JR, Rooimans MA, Bosnoyan-Collins L, Alon N, Wijker M, et al. 1996. Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA. Nat. Genet. 14:320-23
49. Friedberg EC, Feaver WJ, Gerlach VL. 2000. The many faces of DNA polymerases: Strategies for mutagenesis and for mutational avoidance. Proc. Natl. Acad. Sci. USA 97:5681-93
50. Fukuchi K, Martin GM, Monnat RJ Jr. 1989. Mutator phenotype of Werner syndrome is characterized by extensive deletions. Proc. Natl. Acad. Sci. USA 86:5893-97
51. Gangloff S, McDonald JP, Bendixen C, Arthur L, Rothstein R. 1994. The yeast type I topoisomerase Top3 interacts with Sgs1, a DNA helicase homolog: A potential eukaryotic reverse gyrase. Mol. Cell. Biol. 14:8391-98
52. Gangloff S, Sousteele C, Fabre F. 2000. Homologous recombination is responsible for cell death in the absence of the Sgs1 and Srs2 helicases. Nat. Genet. 25:192-94
53. Garcia-Higuera I, Kuang Y, Naf D, Wasik J, D'Andrea AD. 1999. Fanconi anemia proteins FANCA, FANCC, and FANCG/XRCC9 interact in a functional nuclear complex. Mol. Cell. Biol. 19:4866-73
54. Garcia-Higuera I, Taniguchi T, Ganesan S, Meyn MS, Timmers C, et al. 2001. Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway. Mol. Cell 7:249-62
55. Gatti RA, Berkel I, Boder E, Braedt G, Charmley P, et al. 1988. Localization of an ataxia-telangiectasia gene to chromosome 11q22-23. Nature 336:577-80
56. Gebhart E, Bauer R, Raub U, Schinzel M, Ruprecht KW, Jonas JB. 1988. Spontaneous and induced chromosomal instability in Werner syndrome. Hum. Genet. 80:135-39
57. German J. 1993. Bloom syndrome: A mendelian prototype of somatic mutational disease. Medicine 72:393-406
58. German J, Crippa LP, Bloom D. 1974. Bloom's syndrome. III. Analysis of the chromosome aberration characteristic of this disorder. Chromosoma 48:361-66
59. Gianneli F, Benson PF, Pawsey SA, Polani PE. 1977. Ultraviolet light sensitivity and delayed DNA-chain maturation in Bloom's syndrome fibroblasts. Nature 265:466-69
60. Gowen LC, Avrutskaya AV, Latour AM, Koller BH, Leadon SA. 1998. BRCA1 required for transcription-coupled repair of oxidative DNA damage. Science 281:1009-12
61. Gupta PK, Sirover MA. 1984. Altered temporal expression of DNA repair in hypermutable Bloom's syndrome cells. Proc. Natl. Acad. Sci. USA 81:757-61
62. Gupta RS, Goldstein S. 1980. Diphtheria toxin resistance in human fibroblast cell strains from normal and cancer-prone individuals. Mutat. Res. 73:331-38
63. Haber JA. 2000. Partners and pathways repairing a double strand break. Trends Genet. 16:259-64
64. Hanawalt P. 2000. The bases for Cockayne syndrome. Nature 405:415-16
65. Hanawalt PC. 1994. Transcription-coupled repair and human disease. Science 266:1957-58
66. Hanawalt PC, Sarasin A. 1986. Cancerprone hereditary diseases with DNA processing abnormalities. Trends Genet. 2:124-29
67. Haracska L, Yu S-L, Johnson RE, Prakash L, Prakash S. 2000. Efficient and accurate replication in the presence of 7, 8-dihydro-8-oxoguanine by DNA polymerase eta. Nat. Genet. 25:458-61
68. Henderson EE. 1978. Host cell reactivation of Epstein-Barr virus in normal and repair- defective leukocytes. Cancer Res. 38:3256-63
69. Henderson EE, Long WK. 1981. Host cell reactivation of UV- and X-ray-damaged herpes simplex virus by Epstein-Barr virus (EBV)-transformed lymphoblastoid cell lines. Virology 115:237-48
70. Henning KA, Li L, Iyer N, McDaniel LD, Reagan MS, et al. 1995. The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH. Cell 82:555-64
71. Hoatlin ME, Christianson TA, Keeble WW, Hammond AT, Zhi Y, et al. 1998. The Fanconi anemia group C gene product is located in both the nucleus and cytoplasm of human cells. Blood 91:1418-25
72. Holmes AM, Haber JE. 1999. Double-strand break repair in yeast requires both leading and lagging strand DNA polymerases. Cell 96:415-24
73. Inoue T, Hirano K, Yokoiyama A, Kada T, Kato H. 1977. DNA repair enzymes in ataxia telangiectasia and Bloom's syndrome fibroblasts. Biochim. Biophys. Acta 479:497-500
74. Ishida R, Buchwald M. 1982. Susceptibility of Fanconi's anemia lymphoblasts to DNA-cross-linking and alkylating agents. Cancer Res. 42:4000-6
75. Joazeiro CAP, Weissman AM. 2000. RING finger proteins: Mediators of ubiquitin ligase activity. Cell 102:549-52
76. Joenje H, Levitus M, Waisfisz Q, D'Andrea A, Garcia-Higuera I, et al. 2000. Complementation analysis in Fanconi anemia: Assignment of the reference FA-H patient to group A. Am. J. Hum. Genet. 67:759-62
77. Joenje H, Oostra AB, Wijker M, di Summa FM, van Berkel CG, et al. 1997. Evidence for at least eight Fanconi anemia genes. Am. J. Hum. Genet. 61:940-44
78. Johnson RE, Kondratick CM, Prakash S, Prakash L. 1999. hRAD30 mutations in the variant form of xeroderma pigmentosum. Science 285:263-65
79. Johnstone P, Reifsteck C, Kohler S, Worland P, Olson S, Moses RE. 1997. Fanconi anemia group A and D cell lines respond normally to inhibitors of cell cycle regulation. Somat. Cell. Mol. Genet. 23:371-77
80. Karow JK, Chakraverty RK, Hickson ID. 1997. The Bloom's syndrome gene product is a 3′-5′ DNA helicase. J. Biol. Chem. 272:30611-14
81. Karow JK, Constantinou A, Li JL, West SC, Hickson ID. 2000. The Bloom's syndrome gene product promotes branch migration of holliday junctions. Proc. Natl. Acad. Sci. USA 97:6504-8
82. Kitao S, Ohsugi I, Ichikawa K, Goto M, Furuichi Y, Shimamoto A. 1998. Cloning of two new human helicase genes of the RecQ family: Biological significance of multiple species in higher eukaryotes. Genomics 54:443-52
83. Kitao S, Shimamoto A, Goto M, Miller RW, Smithson WA, et al. 1999. Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nat. Genet. 22:82-84
84. Kogoma T. 1997. Is RecF a DNA replication protein? Proc. Natl. Acad. Sci. USA 94:3483-84
85. Kojis TL, Gatti RA, Sparkes RS. 1991. The cytogenetics of ataxia telangiectasia. Cancer Genet. Cytogenet. 56:143-56
86. Kraemer KH. 1977. Progressive degenerative diseases associated with defective DNA repair: Xeroderma pigmentosum and ataxia telangiectasia. In DNA Repair Processes, ed. WW Nichols, DG Murphy, pp. 37-73. Miami, FL: Symp. Specialists, Inc.
87. Kraemer KH, Lee MM, Scotto J. 1984. DNA repair protects against cutaneous and internal neoplasia: Evidence from xeroderma pigmentosum. Carcinogenesis 5:511-14
88. Kraemer KH, Lee MM, Scotto J. 1987. Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases. Arch. Dermatol. 123:241-50
89. Kruyt FA, Waisfisz Q, Dijkmans LM, Hermsen MA, Youssoufian H, et al. 1997. Cytoplasmic localization of a functionally active Fanconi anemia group A-green fluorescent protein chimera in human 293 cells. Blood 90:3288-95
90. Kruyt FA, Youssoufian H. 1998. The Fanconi anemia proteins FAA and FAC function in different cellular compartments to protect against cross-linking agent cytotoxicity. Blood 92:2229-36
91. Kruyt FAE, Hoshino T, Liu JM, Joseph P, Jaiswal AK, et al. 2000. Abnormal microsomal detoxification implicated in Fanconi anemia group C by interaction of the FAC protein with NADPH cytochrome P450 reductase. Blood. In press
92. Kubbies M, Schindler D, Hoehn H, Schinzel A, Rabinovitch PS. 1985. Endogenous blockage and delay of the chromosome cycle despite normal recruitment and growth phase explain poor proliferation and frequent edomitosis in Fanconi anemia cells. Am. J. Hum. Genet. 37:1022-30
93. Kumaresan KR, Lambert MW. 2000. Fanconi anemia, complementation group A, cells are defective in ability to produce incisions at sites of psoralen interstrand cross-links. Carcinogenesis 21:741-51
94. Kupfer GM, Naf D, Suliman A, Pulsipher M, D'Andrea AD. 1997. The Fanconi anaemia proteins, FAA and FAC, interact to form a nuclear complex. Nat. Genet. 17:487-90
95. Laquerbe A, Moustacchi E, Fuscoe JC, Papadopoulo D. 1995. The molecular mechanism underlying formation of deletions in Fanconi anemia cells may involve a site-specific recombination. Proc. Natl. Acad. Sci. USA 92:831-35
96. Le S, Moore JK, Haber JE, Greider CW. 1999. RAD50 and RAD51 define two pathways that collaborate to maintain telomeres in the absence of telomerase. Genetics 152:143-52
97. Leach FS, Nicolaides NC, Papadpoulos N, Liu B, Jen J, et al. 1993. Mutations of a mutS homolog in hereditary nonpolyposis colerectal cancer. Cell 75:1215-25
98. Leadon SA, Cooper PK. 1993. Preferential repair of ionizing radiation-induced damage in the transcribed strand of an active human gene is defective in Cockayne syndrome. Proc. Natl. Acad. Sci. USA 90:10499-503
99. Lehmann AR. 1982. Three complementation groups in Cockayne syndrome. Mutat. Res. 106:347-56
100. Lehmann AR, Arlett CF, Burke JF, Green MH, James MR, Lowe JE. 1986. A derivative of an ataxia-telangiectasia (AT) cell line with normal radiosensitivity but A-T-like inhibition of DNA synthesis. Int. J. Radiat. Biol. 49:639-43
101. Lehmann AR, Stevens S. 1979. The response of ataxia telangiectasia cells to bleomycin. Nucleic Acids Res. 6:1953-60
102. Lengauer C, Kinzler KW, Vogelstein B. 1998. Genetic instabilities in human cancers. Nature 396:643-49
103. Le Page F, Klungland A, Barnes DE, Sarasin A, Boiteux S. 2000. Transcription coupled repair of 8-oxoguanine in murine cells: The Ogg1 protein is required for repair in nontranscribed sequences but not in transcribed sequences. Proc. Natl. Acad. Sci. USA 97:8397-402
104. Liao S, Graham J, Yan H. 2000. The function of Xenopus Bloom's syndrome protein homolog (xBLM) in DNA replication. Genes Dev. 14:2570-75
105. Limoli CL, Giedzinski E, Morgan WF, Cleaver JE. 2000. Polymerase H deficiency in the xeroderma pigmentosum variant uncovers an overlap between the S phase checkpoint and double-strand break repair. Proc. Natl. Acad. Sci. USA 97:7939-46
106. Loeb LA. 1991. Mutator phenotype may be required for multistage carcinogenesis. Cancer Res. 2:169-74
107. Lombard DB, Guarente L. 1996. Cloning the gene for Werner syndrome: A disease with many symptoms of premature ageing. Trends Genet. 12:283-86
108. Lo Ten Foe JR, Kwee ML, Rooimans MA, Oostra AB, Veerman AJ, et al. 1997. Somatic mosaicism in Fanconi anemia: Molecular basis and clinical significance. Eur. J. Hum. Genet. 5:137-48
109. Magee TR, Kogoma T. 1991. Rifampin-resistant replication of pBR322 derivatives in Escherichia coli cells induced for the SOS response. J. Bacteriol. 173:4736-41
110. Masutani C, Kusumoto R, Yamada A, Dohmae N, Yokoi M, et al. 1999. The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta. Nature 399:700-4
111. McCullough AK, Dodson ML, Lloyd RS. 1999. Initiation of base excision repair: Glycosylase mechanisms and structures. Annu. Rev. Biochem. 68:255-85
112. McKinnon PJ. 1987. Ataxia-telangiectasia: An inherited disorder of ionizing-radiation sensitivity in man. Progress in the elucidation of the underlying biochemical defect. Hum. Genet. 75:197-208
113. Mellon I, Spivak G, Hanawalt PC. 1987. Selective removal of transcription-blocking DNA damage from the transcribed strand of the mammalian DHFR gene. Cell 51:241-49
114. Mer G, Bochkarev A, Gupta R, Bochkareva E, Frappier L, et al. 2000. Structural basis for the recognition of DNA repair proteins UNG2, XPA, and RAD52 by replication factor RPA. Cell 103:449-56
115. Michelson RJ, Weinert T. 2000. Closing the gaps among a web of DNA repair disorders. BioEssays 22:966-69
116. Nash HM, Bruner SD, Scharer OD, Kawate T, Addona TA, et al. 1996. Cloning of a yeast 8-oxoguanine DNA glycosylase reveals the existence of a base-excision DNA-repair protein superfamily. Curr. Biol. 6:968-80
117. Painter RB, Young BR. 1980. Radio sensitivity in ataxia-telangiectasia: A new explanation. Proc. Natl. Acad. Sci. USA 77:7315-17
118. Papadopoulo D, Guillouf C, Mohrenweiser H, Moustacchi E. 1990. Hypomutability in Fanconi anemia cells is associated with increased deletion frequency at the HPRT locus. Proc. Natl. Acad. Sci. USA 87:8383-87
119. Paques F, Haber JE. 1999. Multiple pathways of recombination induced by double-strand breaks in Saccharomyces cerevisiae. Microbiol. Mol. Biol. Rev. 63:349-404
120. Paterson MC, Smith BP, Lohman PH, Anderson AK, Fishman L. 1976. Defective excision repair of gamma-ray-damaged DNA in human (ataxia telangiectasia) fibroblasts. Nature 260:444-47
121. Patton JD, Rowan LA, Mendrala AL, Howell JN, Maher VM, McCormick JJ. 1984. Xeroderma pigmentosum fibroblasts including cells from XP variants are abnormally sensitive to the mutagenic and cytotoxic action of broad spectrum simulated sunlight. Photochem. Photobiol. 39:37-42
122. Peltomaki P, de la Chapelle A. 1997. Mutations predisposing to hereditary non-polyposis colorectal cancer. Adv. Cancer Res. 71:93-119
123. Peltomaki P, Lothe RA, Aaltonen LA, Pylkkanen L, Nystrom-Lahti M, et al. 1993. Microsatellite instability is associated with tumors that characterize the hereditary non-polyposis colorectal carcinoma syndrome. Cancer Res. 53:5853-55
124. Poot M, Grob O, Epe B, Pflaum M, Hoehn H. 1996. Cell cycle defect in connection with oxygen and iron sensitivity in Fanconi anemia lymphoblastoid cells. Exp. Cell. Res. 222:262-68
125. Saito H, Hammond AT, Moses RE. 1993. Hypersensitivity to oxygen is a uniform and secondary defect in Fanconi anemia cells. Mutat. Res. 294:255-62
126. Saito H, Hammond AT, Moses RE. 1995. The effect of low oxygen tension on the in vitro-replicative life span of human diploid fibroblast cells and their transformed derivatives, Exp. Cell. Res. 217:272-79
127. Salk D, Au K, Hoehn H, Martin GM. 1981. Cytogenetics of Werner's syndrome cultured skin fibroblasts: Variegated translocation mosaicism. Cytogenet. Cell. Genet. 30:92-107
128. Sancar A. 1994. Structure and function of DNA photolyase. Biochemistry 33:2-9
129. Sancar A. 1995. Excision repair in mammalian cells. J. Biol. Chem. 270:15915-18
130. Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, et al. 1995. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 268:1749-53
131. Schindler D, Hoehn H. 1988. Fanconi anemia mutation causes cellular susceptibility to ambient oxygen. Am. J. Hum. Genet. 43:429-35
132. Schmickel RD, Chu EH, Trosko JE, Chang CC. 1977. Cockayne syndrome: A cellular sensitivity to ultraviolet light. Pediatrics 60:135-39
133. Schroeder TM, Anschutz F, Knopp A. 1964. Spontaneous chromosome aberrations in familial panmyelopathy. Human-genetik 1:194-96
134. Schroeder-Kurth TM, Zhu TH, Hong Y, Westphal I. 1989. Variation in cellular sensitivities among Fanconi anemia patients, non-Fanconi anemia patients, their parents and siblings, and control probands. In Fanconi Anemia. Clinical, Cytogenetic and Experimental Aspects, ed. TM Schroeder-Kurth, AD Auerbach, G Obe, pp. 105-36. Berlin: Springer-Verlag
135. Scully R, Chen JJ, Ochs RL, Keegan K, Hoekstra M, et al. 1997. Dynamic changes of BRCA1 subnuclear location and phosphorylation state are initiated by DNA damage. Cell 90:425-35
136. Scully R, Chen JJ, Plug A, Xiao YH, Weaver D, et al. 1997. Association of BRCA1 with Rad51 in mitotic and meiotic cells. Cell 88:265-75
137. Scully RE, Mark EJ, McNeely WF, McNeely BU. 1987. Case records of the Massachusetts General Hospital, Case 2. N. Engl. J. Med. 316:91-100
138. Selby CP, Sancar A. 1997. Cockayne syndrome group B protein enhances elongation by RNA polymerase II. Proc. Natl. Acad. Sci. USA 94:11205-9
139. Seyschab H, Bretzel G, Friedl R, Schindler D, Sun Y, Hoehn H. 1994. Modulation of the spontaneous G2 phase blockage in Fanconi anemia cells by caffeine: Differences from cells arrested by X-irradiation. Mutat. Res. 308:149-57
140. Shen J-C, Gray MD, Oshima J, Kamath-Loeb AS, Fry M, et al. 1998. Werner syndrome protein. I. DNA helicase and DNA exonuclease reside on the same polypeptide. J. Biol. Chem. 273:34139-44
141. Shen J-C, Gray MD, Oshima J, Loeb LA. 1998. Characterization of Werner syndrome protein DNA helicase activity: Directionality, substrate dependence and stimulation by replication protein A. Nucleic Acids Res. 26:2879-85
142. Shiloh Y. 1997. Ataxia-telangiectasia and the Nijmegen breakage syndrome: Related disorders but genes apart. Annu. Rev. Genet. 31:635-62
143. Spampinato C, Modrich P. 2000. The MutL ATPase is required for mismatch repair. J. Biol. Chem. 275:9863-69
144. Stewart E, Chapman CR, Al-Khodairy F, Carr AM, Enoch T. 1997. rqhl+, a fission yeast gene related to the Bloom's and Werner's syndrome genes, is required for reversible S phase arrest. EMBO J. 16:2682-92
145. Stewart GS, Maser RS, Stankovic T, Bressan DA, Kaplan MI, et al. 1999. The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. Cell 99(6):577-87
146. Strand M, Prolla TA, Liskay RM, Petes TD. 1993. Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair. Nature 365:274-76
147. Strathdee CA, Gavish H, Shannon WR, Buchwald M. 1992. Cloning of cDNAs for Fanconi's anaemia by functional complementation. Nature 356:763-67
148. Sun Y, Moses RE. 1991. Reactivation of psoralen-reacted plasmid DNA in Fanconi anemia, xeroderma pigmentosum, and normal human fibroblast cells. Somat. Cell. Mol. Genet. 17:229-38
149. Svejstrup JQ, Wang Z, Feaver WJ, Wu X, Bushnell DA, et al. 1995. Different forms of TFIIH for transcription and DNA repair: Holo-TFIIH and a nucleotide excision repairosome. Cell 80:21-28
150. Swift M, Morrell D, Cromartie E, Chamberlin AR, Skolnick MH, Bishop DT. 1986. The incidence and gene frequency of ataxia-telangiectasia in the United States. Am. J. Hum. Genet. 39:573-83
151. Swift M, Morrell D, Massey RB, Chase CL. 1991. Incidence of cancer in 161 families affected by ataxia-telangiectasia. N. Engl. J. Med. 325:1831-36
152. Swift M, Reitnauer PJ, Morrell D, Chase CL. 1987. Breast and other cancers in families with ataxia-telangiectasia. N. Engl. J. Med. 316:1289-94
153. Szekely AM, Chen Y-H, Zhang C, Oshimo J, Weissman SM. 2000. Werner protein recruits DNA polymerase δ to the nucleolus. Proc. Natl. Acad. Sci. USA 97:11365-70
154. Takayama K, Salazar EP, Broughton BC, Lehmann AR, Sarasin A, et al. 1996. Defects in the DNA repair and transcription gene ERCC21(XPD) in trichothiodystrophy. Am. J. Hum. Genet. 58: 263-70
155. Tanaka H, Arakawa H, Yamaguchi T, Shiraishi K, Fukuda S, et al. 2000. A ribonucleotide reductase gene involved in a p53-dependent cell-cycle checkpoint for DNA damage. Nature 404:42-49
156. The Fanconi Anaemia/Breast Cancer Consortium. 1996. Positional cloning of the Fanconi anaemia group A gene. Nat. Genet. 14:324-28
157. Timme TL, Moses RE. 1988. Review: Diseases with DNA damage-processing defects. Am. J. Med. Sci. 295:40-48
158. a. Timmers C, Taniguchi T, Hejna J, Reifsteck C, Lucas L, et al. 2001. Positional cloning of a novel Fanconi anemia gene, FANCD2. Mol. Cell 7:241-48
159. Troelstra C, van Gool A, de Wit J, Vermeulen W, Bootsma D, Hoeijmakers JH. 1992. ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes. Cell 71:939-53
160. van der Kemp PA, Thomas D, Barbey R, de Oliveira R, Boiteux S. 1996. Cloning and expression in Escherichia coli of the OGG1 gene of Saccharomyces cerevisiae, which codes for a DNA glycosylase that excises 7,8-dihydro-8-oxoguanine and 2,6-diamino-4-hydroxy-5-N-methylformamidopyrimidine. Proc. Natl. Acad, Sci. USA 93:5197-202
161. Van Dyck E, Stasiak AZ, Stasiak A, West SC. 1999. Binding of double-strand breaks in DNA by human Rad52 protein. Nature 398:728-31
162. Varon R, Vissinga C, Platzer M, Cerosaletti KM, Chrzanowska KH, et al. 1998. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell 93:467-76
163. Vennos EM, Collins M, James WD. 1992. Rothmund-Thomson syndrome: Review of the world literature. J. Am. Acad. Dermatol. 27:750-62
164. Vennos EM, James WD. 1995. Rothmund-Thomson syndrome. Dermatol. Clin. 13:143-50
165. Vermeulen W, Jaeken J, Jaspers NG, Bootsma D, Hoeijmakers JH. 1993. Xeroderma pigmentosum complementation group G associated with Cockayne syndrome. Am. J. Hum. Genet. 53:185-92
166. Vijayalaxmi KK, Evans HJ, Ray JH, German J. 1983. Bloom's syndrome: Evidence for an increased mutation frequency in vivo. Science 221:851-53
167. Wade MH, Chu EH. 1979. Effects of DNA damaging agents on cultured fibroblasts derived from patients with Cockayne syndrome. Mutat. Res. 59:49-60
168. Waisfisz Q, de Winter JP, Kruyt FA, de Groot J, van der Weel L, et al. 1999. A physical complex of the Fanconi anemia proteins FANCG/XRCC9 and FANCA. Proc. Natl. Acad. Sci. USA 96:10320-25
169. Wang Y, Cortez D, Yazdi P, Neff N, Elledge SJ, et al. 2000. BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures. Genes Dev. 14:927-39
170. Wang Z, Buratowski S, Svejstrup JQ, Feaver WJ, Wu X, et al. 1995. The yeast TFB1 and SSL1 genes, which encode subunits of transcription factor IIH, are required for nucleotide excision repair and RNA polymerase II transcription. Mol. Cell. Biol. 15(4):2288-93
171. Warren ST, Schultz RA, Chang CC, Wade MH, Trosko JE. 1981. Elevated spontaneous mutation rate in Bloom syndrome fibroblasts. Proc. Natl. Acad. Sci. USA 78:3133-37
172. Weichselbaum RR, Nove J, Little JB. 1978. Deficient recovery from potentially lethal radiation damage in ataxia telengiectasia and xeroderma pigmentosum. Nature 271:261-62
173. Weinert T. 1998. DNA damage checkpoints update: Getting molecular. Curr. Opin. Genet. Dev. 8:185-93
174. Welcsh P, Owens KN, King M-C. 2000. Insights into the functions of BRAC1 and BRAC2. Trends Genet. 16:69-74
175. Whitney MA, Royle G, Low MJ, Kelly MA, Axthelm MK, et al. 1996. Germ cell defects and hematopoietic hypersensitivity to gamma-interferon in mice with a targeted disruption of the Fanconi anemia C gene. Blood 88:49-58
176. Will O, Schindler D, Boiteux S, Epe B. 1998. Fanconi's anaemia cells have normal steady-state levels and repair of oxidative DNA base modifications sensitive to Fpg protein. Mutat. Res. 409:65-72
177. Winkler GS, Araujo SJ, Fiedler U, Vermeulen W, Coin F, et al. 2000. TFIIH with inactive XPD helicase functions in transcription initiation but is defective in DNA repair. J. Biol. Chem. 275:4258-66
178. Wolff S, Rodin B, Cleaver JE. 1997. Sister chromatid exchanges induced by mutagenic carcinogens in normal and xeroderma pigmentosum cells. Nature 265:347-49
179. Wood RD. 1991. DNA repair. Seven genes for three diseases. Nature 350:190
180. Wood RD. 1996. DNA repair in eukaryotes. Annu. Rev. Biochem. 65:135-67
181. Wood RD. 1997. Nucleotide excision repair in mammalian cells. J. Biol. Chem. 272:23465-68
182. Wood RD, Lindahl T. 1999. Quality control by DNA repair. Science 286:1897-905
183. Wood RD, Shivji MK. 1997. Which DNA polymerases are used for DNA-repair in eukaryotes? Carcinogenesis 18:605-10
184. Wu X, Ranganathan V, Weisman DS, Heine WF, Ciccone DN, et al. 2000. ATM phosphorylation of Nijmegen breakage syndrome protein is required in a DNA damage response. Nature 405:477-82
185. Yamashita T, Barber DL, Zhu Y, Wu N, D'Andrea AD. 1994. The Fanconi anemia polypeptide FACC is localized to the cytoplasm. Proc. Natl. Acad. Sci. USA 91:6712-16
186. Yamashita T, Kupfer GM, Naf D, Suliman A, Joenje H, et al. 1998. The Fanconi anemia pathway requires FAA phosphorylation and FAA/FAC nuclear accumulation. Proc. Natl. Acad. Sci. USA 95:13085-90
187. Youssoufian H. 1994. Localization of Fanconi anemia C protein to the cytoplasm of mammalian cells. Proc. Natl. Acad. Sci. USA 91:7975-79
188. Youssoufian H, Li Y, Martin ME, Buchwald M. 1996. Induction of Fanconi anemia cellular phenotype in human 293 cells by overexpression of a mutant FAC allele. J. Clin. Invest. 97:957-62
189. Yu CE, Oshima J, Fu YH, Wijsman EM, Hisama F, et al. 1996. Positional cloning of the Werner's syndrome gene. Science 272:258-62
190. Zhao S, Weng YC, Yuan SS, Lin YT, Hsu HC, et al. 2000. Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene products. Nature 405:473-77
191. Zhou B-BS, Elledge SJ. 2000. The DNA damage response: Putting checkpoints in perspective. Nature 408:433-39