Cancer predisposition associated with defective DNA repair: Studies with mutant mouse strains

Cancer Journal from Scientific American

Volumn 5, Issue 5, 1999, Pages 257-263

  Friedberg, Errol C ^a  

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

Author keywords

[No Author keywords available]

Indexed keywords

CANCER INCIDENCE; CANCER RISK; CANCER SUSCEPTIBILITY; DNA DAMAGE; DNA POLYMORPHISM; DNA REPAIR; EXCISION REPAIR; GENE MUTATION; GENETIC DISORDER; MEDICAL GENETICS; MOUSE; NEUROLOGICAL COMPLICATION; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; REVIEW; ULTRAVIOLET RADIATION; XERODERMA PIGMENTOSUM;

ANIMALS; CARBON-OXYGEN LYASES; COCKAYNE SYNDROME; DNA REPAIR; DNA-(APURINIC OR APYRIMIDINIC SITE) LYASE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LIVER NEOPLASMS; LUNG NEOPLASMS; MICE; MICE, MUTANT STRAINS; NEOPLASMS; TIME FACTORS; ULTRAVIOLET RAYS; XERODERMA PIGMENTOSUM;

EID: 0032823808     PISSN: 10814442     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (52)

1. Friedberg EC, Walker GC, Siede W. DNA Repair and Mutagenesis. Washington, DC: ASM Press, 1995.
2. Lynch HT, Smyrk T. Hereditary nonpolyposis colorectal cancer (Lynch syndrome): an updated review. Cancer 1996;78:1149-1167.
3. Modrich P, Lahue R. Mismatch repair in replication fidelity, genetic recombination, and cancer biology. Annu Rev Biochem 1996; 65:101-133.
4. Umar A, Kunkel TA. DNA-replication fidelity, mismatch repair and genome instability in cancer cells. Eur J Biochem 1996;238: 297-307.
5. Jiricny J. Eukaryotic mismatch repair: an update. Mutat Res 1998; 409:107-121.
6. Kolodner RD, Marsischky GT. Eukaryotic DNA mismatch repair. Curr Opin Genet Dev 1999;9:89-96.
7. Sancar A. DNA excision repair. Annu Rev Biochem 1996;65:43-81.
8. Wood RD. DNA repair in eukaryotes. Annu Rev Biochem 1996; 65:135-167.
9. de Laat WL, Jaspers NGJ, Hoeijmakers JHJ. Molecular mechanisms of nucleotide excision repair. Genes Dev 1999;13:768-785.
10. Bootsma D, Cleaver JE, Kraemer KH et al. Nucleotide excision repair syndromes. In: Vogelstein B, Kinsler KW, eds. The Genetic Basis of Human Cancer. New York:McGraw-Hill, 1998:245-274.
11. Cleaver, J, Kraemer, KH. Xeroderma pigmentosum and Cockayne syndrome. In: Scriver CR, Beaudet AL, Sly WS et al, eds. The Metabolic and Molecular Basis of Inherited Disease (7th ed). New York: McGraw Hill, 1995:4393-4419.
12. Kraemer KH, Lee MM, Scotto J. DNA repair protects against cutaneous and internal neoplasia: evidence from xeroderma pigmentosum. Carcinogenesis 1984;5:511-514.
13. Nance MA, Berry SA. Cockayne syndrome: review of 140 cases. Am J Med Genet 1992;42:68-84.
14. Friedberg EC. Cockayne syndrome: a primary defect in DNA repair, transcription, both or neither? BioEssays 1996;18:731-738.
15. Cooper PK, Leadon SA. Defective repair of ionizing radiation damage in Cockayne's syndrome and xeroderma pigmentosum group G. Ann NY Acad Sci 1994;726:330-332.
16. Leadon SA, Cooper PK. 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 1993; 90:10499-10503.
17. Cooper PK, Nouspikel T, Clarkson SG et al. Defective transcription-coupled repair of oxidative base damage in Cockayne syndrome patients from XP group G. Science 1997;275:990-993.
18. Scott RJ, Itin P, Kleijer WJ et al. Xeroderma pigmentosum-Cockayne syndrome complex in two patients: absence of skin tumors despite severe deficiency of DNA excision repair. J Am Acad Dermatol 1993;29:883-889.
19. Vermeulen W, Scott RJ, Rodgers S et al. Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3. Am J Hum Genet 1994;54:191-200.
20. Henning KA, Li L, Iyer N et al. The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with the CSB protein and a subunit of RNA polymerase II TFIIH. Cell 1995; 82:555-564.
21. Troelstra C, van Gool A, de Wit J et al. ERCC6, a member of a subfamily of putative helicase, is involved in Cockayne's syndrome and preferential repair of active genes. Cell 1992;71:939-953.
22. Friedberg EC, Meira LB. Database of mouse strains carrying targeted mutations in genes affecting cellular responses to DNA damage. version 3. Mutat Res 1999;433:69-87.
23. Cheo DL, Meira LB, Hammer RE et al. Synergistic interactions between XPC and p53 mutations in double mutant mice: neural tube abnormalities and accelerated UV radiation-induced skin cancer. Curr Biol 1996;6:1691-1694.
24. Cheo DL, Ruven HJT, Meira LB et al. Characterization of defective nucleotide excision repair in XPC mutant mice. Mutat Res 1997; 374:1-9.
25. Shen HM, Cheo DL, Friedberg EC et al. Inactivation of the XPC gene does not affect somatic hypermutation or class switch recombination of immunoglobulin genes. Mol Immunol 1997;34:527-533.
26. Cheo DL, Burns DK, Meira LB et al. Mutational inactivation of the xeroderma pigmentosum group C gene confers predisposition to 2-acetylaminofluorene-induced liver and lung cancer and to spontaneous testicular cancer in Trp53 mice. Cancer Res 1999;59: 771-775.
27. Friedberg EC, Cheo DL, Meira LB et al. Cancer predisposition in mutant mice defective in the XPC DNA repair gene. Prog Exp Tumor Res 1999;35:37-52.
28. Sands AT, Abuin A, Sanchez A et al. High susceptibility to ultraviolet-induced carcinogenesis in mice lacking XPC. Nature 1995; 377:162-165.
29. de Vries A, van Oostrom CThM, Hofhuis FMA et al. Increased susceptibility to ultraviolet-B and carcinogens in mice lacking the DNA excision repair gene XPA. Nature 1995;377:169-173.
30. Nakane H, Takeuchi S, Yuba S et al. High incidence of ultraviolet-B or chemical carcinogen-induced skin tumours in mice lacking the xeroderma pigmentosum group A gene. Nature 1995;377: 165-168.
31. deBoer J, Hoeijmakers JHJ. Cancer from the outside, aging from the inside: mouse models to study the consequences of defective nucleotide excision repair. Biochemie 1999;81:127-137.
32. Robbins JH. Xeroderma pigmentosum: defective DNA repair causes skin cancer and neurodegeneration. JAMA 1988;260:384-388.
33. Andrews AD, Barrett SF, Robbins JH. Xeroderma pigmentosum neurological abnormalities correlate with colony-forming ability after ultraviolet radiation. Proc Nad Acad Sci USA 1978;75:1984-1988.
34. Satoh MS, Jones CJ, Wood RD et al. DNA excision-repair defect of xeroderma pigmentosum prevents removal of a class of oxygen free radical-induced base lesions. Proc Natl Acad Sci USA 1993; 90:6335-6339.
35. Reardon JT, Bessho T, Kung HC et al. In vitro repair of oxidative DNA damage by human nudeotide excision repair system: possible explanation for neurodegeneration in xeroderma pigmentosum patients. Proc Natl Acad Sci USA 1997;94:9463-9468.
36. Donehower LA, Harvey M, Slagle BL et al. Mice deficient for p53 are developmentally normal but susceptible to spontaneous tumors. Nature 1992;356:215-221.
37. Harvey M, McArthur MJ, Montgomery CA Jr et al. Spontaneous and carcinogen-induced tumorigenesis in p53-deficient mice. Nat Genet 1993;5:225-229.
38. Jacks T, Remington L, Williams BO et al. Tumor spectrum analysis in p53-mutant mice. Curr Biol 1994;4:1-7.
39. Malkin D. The Li-Fraumeni syndrome. In: Vogelstein B, Kinsler KW, eds. The Genetic Basis of Human Cancer. New York: McGraw-Hill, 1998:393-407.
40. Friedberg EC, Bond J, Burns DK et al. Defective nucleotide excision repair in Xpc mutant mice and its association with cancer predisposition. Mutat Res; in press.
41. Ootsuyama A, Makino H, Nagao M et al. Frequent p53 mutation in mouse tumors induced by repeated β-irradiation. Mol Carcinog 1994;11:236-242.
42. Tyrrell RM. Activation of mammalian gene expression by the UV component of sunlight-from models to reality. Bioessays 1996;18: 139-148.
43. Reitmair AH, Redston M, Cai JC et al. Spontaneous intestinal carcinomas and skin neoplasms in Msh2-deficient mice. Cancer Res 1996;56:3842-3849.
44. de Wind N, Dekker M, Berns A et al. Inactivation of the mouse Msh2 gene results in mismatch repair deficiency, methylation tolerance, hyperrecombination, and predisposition to cancer. Cell 1995; 82:321-330.
45. de Wind N, Dekker M, van Rossum A et al. Mouse models for hereditary nonpolyposis colorectal cancer. Cancer Res 1998;58:248-255.
46. Xanthoudakis S, Miao G, Wang F et al. Redox activation of Fos-Jun DNA binding activity is mediated by a DNA repair enzyme. EMBO J 1992;11:3323-3335.
47. Hainaut P, Milner J. Redox modulation of p53 conformation and sequence-specific DNA binding in vitro. Cancer Res 1993;53: 4469-4473.
48. Rainwater R, Parks D, Anderson ME et al. Role of cysteine residues in regulation of p53 function. Mol Cell Biol 1995;15:3892-3903.
49. Jayaraman L, Murthy KGK, Zhu C et al. Identification of redox/ repair protein Ref-1 as a potent activator of p53. Genes Dev 1997; 11:558-570.
50. Meira LB, Cheo DL, Hammer RE et al. Genetic interaction between HAP1(REF-1) and p53. Nat Genet 1997;17:145.
51. Xanthoudakis S, Smeyne RJ, Wallace JD et al. The redox/DNA repair protein Ref-1 is essential for early embryonic development in mice. Proc Natl Acad Sci USA 1996;93:8919-8923.
52. Ludwig DL, MacInnes MA, Takiguchi Y et al. A murine AP-endonuclease gene-targeted deficiency with post-implantation embryonic progression and ionizing radiation sensitivity. Mutation Res 1998;409:17-29.