A deficiency in a 230 kDa DNA repair protein in Fanconi anemia complementation group A cells is corrected by the FANCA cDNA

Carcinogenesis

Volumn 20, Issue 9, 1999, Pages 1845-1853

  Brois, Daniel W ^b   McMahon, Laura W ^b   Ramos, Nydia I ^b   Anglin, Lynn M ^b   Walsh, Christopher E ^a   Lambert, Muriel W ^b  

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; ENDONUCLEASE; MONOCLONAL ANTIBODY;

ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; DNA CROSS LINKING; DNA REPAIR; ELECTROPHORESIS; FANCONI ANEMIA; GENETIC COMPLEMENTATION; GENETIC TRANSDUCTION; HUMAN; HUMAN CELL; IMMUNOBLOTTING; MOUSE; NONHUMAN; PRIORITY JOURNAL; UNSCHEDULED DNA SYNTHESIS;

AMINO ACID SEQUENCE; ANIMALS; ANTIBODIES, MONOCLONAL; ANTIBODY SPECIFICITY; BLOTTING, WESTERN; CARRIER PROTEINS; CELLS, CULTURED; DNA REPAIR; DNA, COMPLEMENTARY; DNA-BINDING PROTEINS; ENDODEOXYRIBONUCLEASES; FANCONI ANEMIA; FANCONI ANEMIA COMPLEMENTATION GROUP A PROTEIN; GENETIC COMPLEMENTATION TEST; HUMANS; LYMPHOCYTES; MICE; MICE, INBRED BALB C; MOLECULAR SEQUENCE DATA; MOLECULAR WEIGHT; MULTIENZYME COMPLEXES; PROTEINS;

EID: 0032846684     PISSN: 01433334     EISSN: None     Source Type: Journal    
DOI: 10.1093/carcin/20.9.1845     Document Type: Article

References (75)

1. Glanz, A. and Fraser, F.C.J. (1982) Spectrum of anomalies in Fanconi anaemia. Med. Genet., 19, 412-416.
2. Auerbach, A.D. and Allen, R.G. (1991) Leukemia and preleukemia in Fanconi anemia patients: a review of the literature and report of the international Fanconi anemia registry. Cancer Genet. Cytogenet., 51, 1-12.
3. Alter, B.P. (1996) Fanconi's anemia and malignancies. Am. J. Hematol., 53, 99-110.
4. Sasaki, M.A. and Tonomura, A. (1973) A high susceptibility of Fanconi anemia to chromosome breakage by DNA cross-linking agents. Cancer Res., 33, 1829-1836.
5. Strathdee, C.A. and Buchwald, M. (1992) Molecular and cellular biology of Fanconi anemia. Am. J. Pediat. Hematol. Oncol., 14, 177-185.
6. Auerbach, A.D. (1993) Fanconi anemia diagnosis and the diepoxybutane (DEB) test. Exp. Hematol., 21, 731-733.
7. D'Andrea, A.D. and Grompe, M. (1997) Molecular biology of Fanconi anemia: implications for diagnosis and therapy. Blood, 90, 1725-1736.
8. Buchwald, M. and Moustacchi, E. (1998) Is Fanconi anemia caused by a defect in the processing of DNA damage? Mutat. Res., 408, 75-90.
9. Strathdee, C.A., Duncan, A.M.V. and Buchwald, M. (1992) Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9. Nature Genet., 1, 196-198.
10. Joenje, H., Lo Ten Foe, J.R., Oostra, A.B., van Berkel, C.G.M., Rooimans, M.A., Schroeder-Kurth, T., Wegner, R.-D., Gille, J.J.P., Buchwald, M. and Anvert, F. (1995) Classification of Fanconi anemia patients by complementation analysis: evidence for a fifth genetic subtype. Blood, 86, 2156-2160.
11. Joenje, H., Oostra, A.B., Wijker, M. et al. (1997) Evidence for at least eight Fanconi anemia genes. Am. J. Hum. Genet., 61, 940-944.
12. Lo Ten Foe, J., Rooimans, M.A., Bosnoyan-Collins, L. et al. (1996) Expression cloning of a cDNA for the major Fanconi anaemia gene: FAA. Nature Genet., 14, 320-323.
13. Fanconi Anaemia/Breast Cancer Consortium (1996) Positional cloning of the Fanconi anaemia group A gene. Nature Genet., 14, 324-328.
14. Strathdee, C.A., Gavish, H., Shannon, W.R. and Buchwald, M. (1992) Cloning of cDNAs for Fanconi's anaemia by functional complementation. Nature (Lond.), 356, 763-767.
15. de Winter, J.P., Waisfisz, Q., Rooimans, M.A. et al. (1998) The Fanconi anaemia group G gene FANCG is identical with XRCC9. Nature Genet., 20, 281-283.
16. Liu, N., Lamerdin, J.E., Tucker, J.D., Zhou, Z.-G., Walter, C.A., Albala, J.S. and Busch, D.B. and Thompson, L.H. (1997) The human XRCC9 gene corrects chromosomal instability and mutagen sensitivities in CHO UV40 cells. Proc. Natl Acad. Sci. USA, 94, 9232-9237.
17. Auerbach, A.D., Adler, B. and Chaganti, R.S. (1981) Prenatal and postnatal diagnosis and carrier detection of Fanconi anemia by a cytogenic method. Pediatrics, 67, 128-135.
18. Auerbach, A.D., Rogatko, A. and Schroeder-Kurth, J.M. (1989) International Fanconi anemia registry: relation of clinical symptoms to diepoxybutane sensitivity. Blood, 73, 391-396.
19. Averbech, D., Papadopoulo, D. and Moustacchi, E. (1988) Repair of 4,5′,8-trimethylpsoralen plus light induced DNA damage in normal and Fanconi's anemia cell lines. Cancer Res., 48, 2015-2020.
20. Matsumoto, A., Vos, J.-M.H. and Hanawalt, P.C. (1989) Repair analysis of mitomycin C-induced DNA crosslinking in ribosomal RNA genes in lymphoblastoid cells from Fanconi's anemia patients. Mutat. Res., 217, 185-192.
21. Sun, Y. and Moses, R.E. (1991) Reactivation of psoralen-reacted plasmid DNA in Fanconi anemia, xeroderma pigmentosum, and normal human fibroblast cells. Somat. Cell Mol. Genet., 17, 229-238.
22. Lambert, M.W., Tsongalis, G.J., Lambert, W.C., Hang, B. and Parrish, D.D. (1992) Defective DNA endonuclease activities in Fanconi's anemia cells, complementation groups A and B. Mutat. Res., 273, 57-71.
23. Zhen, W., Evans, M.K., Haggerty, C.M. and Bohr, V.A. (1993) Deficient gene specific repair of cisplatin-induced lesions in xeroderma pigmentosum and Fanconi's anemia cell lines. Carcinogenesis, 14, 919-924.
24. Lambert, M.W., Tsongalis, G.J., Lambert, W.C., Hang, B. and Parrish, D.D. (1997) Correction of the DNA defect in Fanconi anemia complementation groups A and D cells. Biochem. Biophys. Res. Commun., 230, 587-591.
25. Rousset, S., Nocentini, S., Santella, R.M. and Moustacchi, E. (1997) 6,4,4'-Trimethyl-angelicin photoadduct immunodetection in DNA: induction and repair in Fanconi's anemia and normal human fibroblasts. J. Photochem. Photobiol. B, 38, 220-227.
26. Schindler, D. and Hoehn, H. (1988) Fanconi anemia mutation causes cellular susceptibility to ambient oxygen. Am. J. Hum. Genet., 43, 429-435.
27. Ruppitsch, W., Meiblitzer, C., Weirich-Schwaiger, H., Klocker, H., Scheidereit, C., Schweiger, M. and Hirsch-Kauffmann, M. (1997) The role of oxygen metabolism for the pathological phenotype of Fanconi anemia. Hum. Genet., 99, 710-719.
28. Liebetrau, W., Runger, T.M., Baumer, A., Henning, C., Gross, O., Schindler, D., Poot, M. and Hoehn, H. (1997) Exploring the role of oxygen in Fanconi's anemia. Recent Results Cancer Res., 143, 353-367.
29. Kruyt, F.A.E., Dijkmans, L.M., van den Berg, T.K. and Joenje, H. (1996) Fanconi anemia genes act to suppress a cross-linker-inducible p53-independent apoptosis pathway in lymphoblastoid cell lines. Blood, 87, 938-948.
30. Ridet, A., Guillouf, C., Duchaud, E., Cundari, E., Fiore, M., Moustacchi, E. and Rosselli, F. (1997) Deregulated apoptosis is a hallmark of the Fanconi anemia syndrome. Cancer Res., 57, 1722-1730.
31. Dutrillaux, B., Aurias, A., Dutrillaux, A., Buriot, D. and Prieur, M. (1982) The cell cycle of lymphocytes in Fanconi anemia. Hum. Genet., 62, 327-332.
32. Seyschab, H., Sun, Y., Friedl, R., Schindler, D. and Hoehn, H. (1993) G2 phase cell cycle disturbance as a manifestation of genetic cell damage. Hum. Genet., 92, 61-68.
33. Poot, M., Gross, O., Epe, B., Pflaum, M. and Hoehn, H. (1996) Cell cycle defect in connection with oxygen and iron sensitivity in Fanconi anemia lymphoblastoid cells. Exp. Cell Res., 222, 262-268.
34. Kupfer, G.M. and D'Andrea, A.D. (1996) The effect of the Fanconi anemia polypeptide, FAC, upon p53 induction and G2 checkpoint regulation. Blood, 88, 1019-1025.
35. Kruyt, F.A.E., Dijkmans, L.M., Arwert, F. and Joenje, H. (1997) Involvement of the Fanconi's anemia protein FAC in a pathway that signals to the cyclin B/cdc2 kinase. Cancer Res., 57, 2244-2251.
36. Rathbun, R.K., Faulkner, G.R., Ostroski, M.H. et al. (1997) Inactivation of the Fanconi anemia group C gene augments interferon-y-induced apoptotic responses in hematopoietic cells. Blood, 90, 974-985.
37. Rosselli, F., Sanceau, J., Gluckman, E., Wietzerbin, J. and Moustacchi, E. (1994) Abnormal lymphokine production: a novel feature of the genetic disease Fanconi anemia. II. In vitro and in vivo spontaneous overproduction of tumor necrosis factor alpha. Blood, 83, 1216-1225.
38. de Cremoux, P., Gluckman, E., Podgorniak, M.P., Menier, C., Thierry, D., Calvo, F. and Socie, G. (1996) Decreased IL-1 beta and TNF alpha secretion in long-term bone marrow culture supernatant from Fanconi's anaemia patients. Eur. J. Haematol., 57, 202-207.
39. Lambert, M.W., Fenkart, D. and Clarke, M. (1988) Two DNA endonuclease activities from normal human and xeroderma pigmentosum chromatin active on psoralen plus ultraviolet light treated DNA. Mutat. Res., 193, 65-73.
40. Hang, B., Yeung, A.T. and Lambert, M.W. (1993) A damage-recognition protein which binds to DNA containing interstrand cross-links is absent or defective in Fanconi anemia, complementation group A, cells. Nucleic Acids Res., 21, 187-192.
41. Fu, K.-L., Thuβ, P.C, Fujino, T., Digweed, M., Liu, J.M. and Walsh, C.E. (1998) Retroviral gene transfer for the assignment of Fanconi anemia (FA) patients to a FA complementation group. Hum. Genet., 102, 166-169.
42. Harlow, E. and Lane, D. (1988) Antibodies: A Laboratory Manual. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
43. Gould-Fogerite, S. and Mannino, R.J. (1996) Mucosal and systemic immunization using cochleate and liposome vaccines. J. Liposome Res., 6, 357-379.
44. Gould-Fogerite, S. and Mannino, R.J. (1993) Targeted fusogenic proteoliposomes: functional reconstitution of membrane proteins through protein - cochleate intermediates. In Gregoriadis, G.G. (ed.) Liposome Technology, 2nd Edn, CRC Press, Boca Raton, FL, Vol. 3, pp. 262-276.
45. Parrish, D.D. and Lambert, M.W. (1990) Chromatin-associated DNA endonucleases from xeroderma pigmentosum cells are defective in interaction with damaged nucleosomal DNA. Mutat. Res., 235, 65-80.
46. Laemmli, U.K. (1970) Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature, 227, 680-685.
47. Tsongalis, G.J., Lambert, W.C. and Lambert, M.W. (1990) Electroporation of normal human DNA endonucleases into xeroderma pigmentosum cells corrects their DNA repair defect. Carcinogenesis, 11, 499-503.
48. Masutani, C., Sugasawa, K., Yanagisawa, J. et al. (1994) Purification and cloning of a nucleotide excision repair complex involving the xeroderma pigmentosum group C protein and a human homologue of yeast RAD23. EMBO J., 13, 1831-1843.
49. Sugasawa, K., Masutani, C., Uchida, A., Maekawa, T., van der Speck, P.J., Bootsma, D., Hoeimmakers, J.H.J. and Hanaoka, F. (1996) HHR23B, a human Rad23 homolog, stimulates XPC protein in nucleotide excision repair in vitro. Mol. Cell. Biol., 16, 4852-4861.
50. Poot, M., Epe, B. and Hoehn, H. (1992) Cell cycle effects of the DNA topoisomerase inhibitors camptothecin and m-AMSA in lymphoblastoid cell lines from patients with Fanconi anemia. Mutat. Res., 270, 185-189.
51. Rosselli, R, Duchaud, E., Averback, D. and Moustacchi, E. (1994) Comparison of the effects of DNA topoisomerase inhibitors on lymphoblasts from normal and Fanconi anemia donors. Mutat. Res., 325, 137-144.
52. Svejstrup, J.Q., Wang, Z., Feaver, W.J., Wu, X., Bushnell, D.A., Donahue, T.F, Friedberg, E.C. and Kornberg, R.D. (1995) Different forms of TFIIH for transcription and DNA repair: holo-TFIIH and a nucleotide excision repairsome. Cell, 80, 21-28.
53. He, Z. and Ingles, C.J. (1997) Isolation of human complexes proficient in nucleotide excision repair. Nucleic Acids Res., 25, 1136-1141.
54. Rodriguez, K., Talamantez, J., Huang, W., Reed, S.H., Wang, Z., Chen, L., Feaver, W.J., Friedberg, E.C. and Tomkinson, A.E. (1998) Affinity purification and partial characterization of a yeast multiprotein complex for nucleotide excision repair using histidine-tagged Tad14 protein. J. Biol. Chem., 273, 34180-34189.
55. Digweed, M. and Sperling, K. (1996) Molecular analysis of Fanconi anaemia. Bioessays, 18, 579-585.
56. Lo Ten Foe, J.R., Kwee, M.L., Rooimans, M.A. el al. (1997) Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance. Eur. J. Hum. Genet., 5, 137-148.
57. Auth, D. and Brawerman, G. (1992) A 33-kDa polypeptide with homology to the laminin receptor: component of translation machinery. Proc. Natl Acad. Sci. USA, 89, 4368-4372.
58. Tohgo, A., Takasawa, S., Munakata, H., Yonekura, H., Hayashi, N. and Okamoto, H. (1994) Structural determination and characterization of a 40 kDa protein isolated form rat 40 S ribosomal subunit. FEBS Lett., 340, 133-138.
59. Jackers, P., Minoletti, F., Belottti, D., Clalusse, N., Sozzi, G., Sobel, M.E. and Castronovo, V. (1996) Isolation from a multi gene family of the active human gene of the metastasis-associated multifunctional protein 37LRP/ p40 at chromosome 3p21.3. Oncogene, 13, 495-503.
60. Wool, I.G. (1996) Extraribosomal functions of ribosomal proteins. Trends Biochem. Sci., 21, 164-165.
61. Grabowski, D.T., Deutsch, W.A., Derda, D. and Kelley, M.R. (1991) Drosophila AP3, a presumptive DNA repair protein, is homologous to human ribosomal associated protein PO. Nucleic Acids Res., 19, 4297.
62. Wilson, D.M., Deutsch, W.A. and Kelley, M.R. (1994) Drosophila ribosomal protein S3 contains an activity that cleaves DNA at apurinic/apyrimidinic sites. J. Biol. Chem., 269, 25359-25364.
63. Yacoub, A., Kelley, M.R. and Deutsch, W.A. (1996) Drosophila ribosomal protein PO contains apurinic/apyrimidinic endonuclease activity. Nucleic Acids Res., 24, 4298-4303.
64. Kim, J., Chubatsu, L.S., Admon, A., Stahl, J., Fellows, R. and Linn, S. (1995) Implication of mammalian ribosomal protein S3 in the processing of DNA damage. J. Biol. Chem., 270, 13620-13629.
65. Yacoub, A., Augeri, L., Kelley, M.R., Doetsch, P.W. and Deutsch, W.A. (1996) A Drosophila ribosomal protein contains 8-oxoguanine and abasic site DNA repair activities. EMBO J., 15, 2306-2312.
66. Bruckner, R.C. and Cox, M.M. (1989) The histone-like H protein of Escherichia coli is ribosomal protein S3. Nucleic Acids Res., 17. 3145-3161.
67. Kruyt, F.A.E., Waisfisz, Q., Dijkmans, L.M., Hermsen, M.A.J.A., Youssoufian, H., Arwert, F. and Joenje, H. (1997) Cytoplasmic localization of a functionally active Fanconi anemia group A-green fluorescent protein chimera in human 293 cells. Blood, 90, 3288-3295.
68. Kupfer, G.M., Naf, D., Suliman, A., Pulsipher, M. and D'Andrea, A.D. (1997) The Fanconi anaemia proteins, FAA and FAC, interact to form a nuclear complex. Nature Genet., 17, 487-490.
69. Naf, D., Kupfer, G.M., Suliman, A., Lambert, K. and D'Andrea, A.D. (1998) Functional activity of the Fanconi anemia protein FAA requires FAC binding and nuclear localization. Mol Cell. Biol., 18, 5952-5956.
70. Kruyt, F.A.E. and Youssoufian, H. (1998) The Fanconi anemia proteins FAA and FAC function in different cellular compartments to protect against cross-linking agent cytotoxicity. Blood, 92, 2229-2236.
71. Yamashita, T., Kupfer, G.M., Naf, D., Suliman, A., Joenje, H., Aasano, S. and D'Andrea, A.D. (1998) The Fanconi anemia pathway requires FAA phosphorylation and FAA/FAC nuclear accumulation. Carcinogenesis, 95, 13085-13090.
72. Lehman, A.R. (1998) Dual functions of DNA repair genes: molecular, cellular, and clinical implications. Bioessays, 20, 146-155.
73. van Gool, A.J., Citterio, E., Rademakers, S., van Os, R., Vermeulen, W., Constantinou, A., Egly, J.-M., Bootsma, D. and Hoeijmakers, J.H.J. (1997) The Cockayne syndrome B protein, involved in transcription-coupled DNA repair, resides in an RNA polymerase II-containing complex. EMBO J., 16, 5955-5965.
74. Balajee, A.S., May, A., Dianov, G.I., Friedberg, E.C. and Bohr, V.A. (1997) Reduced RNA polymerase II transcription in intact and permeabilized Cockayne syndrome group B cells. Proc. Natl Acad. Sci. USA, 94, 4306-4311.
75. van Oosterwijk, M.F., Versteeg, A., Filon, R., van Zeeland, A.A. and Mullenders, L.H.F. (1996) The sensitivity of Cockayne's syndrome cells to DNA-damaging agents is not due to defective transcription-coupled repair of active genes. Mol Cell. Biol., 16, 4436-4444.