Fanconi anemia, complementation group A, cells are defective in ability to produce incisions at sites of psoralen interstrand cross-links

Carcinogenesis

Volumn 21, Issue 4, 2000, Pages 741-751

  Kumaresan, Kandallu R ^a   Lambert, Muriel W ^a  

^a RUTGERS NEW JERSEY MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; FODRIN; FURAN; PROTEIN; PSORALEN; PYRONE DERIVATIVE; TRIOXYSALEN; VIRUS VECTOR;

ARTICLE; CHROMATIN; CONTROLLED STUDY; DNA CROSS LINKING; DNA REPAIR; FANCONI ANEMIA; GENETIC COMPLEMENTATION; HUMAN; HUMAN CELL; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; RETROVIRUS; ULTRAVIOLET A RADIATION;

EID: 0034008802     PISSN: 01433334     EISSN: None     Source Type: Journal    
DOI: 10.1093/carcin/21.4.741     Document Type: Article

References (75)

1. Auerbach, A.D. (1995) Fanconi anemia. Dermatol. Clinics, 13, 41-49.
2. Auerbach, A.D. and Allen, R.G. (1991) Leukemia and preleukemia Fanconi anemia patients: a review of the literature and report of the international Fanconi anemia registry. Cancer Genet. Cytogenet., 51, 1-12.
3. Fanconi, G. (1967) Familial constitutional panmyelocytopathy, Fanconi anemia (F.A.) I. Clinical aspects. Semin. Hematol., 4, 233-240.
4. Glanz, A. and Fraser, F.C.J. (1982) Spectrum of anomalies in Fanconi anaemia. Med. Genet., 19, 412-416.
5. Auerback, A.D. and Wolman, S.R. (1976) Susceptibility of Fanconi anaemia fibroblasts to chromosome damage by carcinogens. Nature, 261, 494-496.
6. Digweed, M., Zakrzewski-Lukcke, S. and Sperling, K. (1988) Fanconi's anaemia: correlation of genetic complementation groups with psoralen/UVA response. Hum. Genet., 78, 51-55.
7. 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.
8. Strathdee, C.A. and Buchwald, M. (1992) Molecular and cellular biology of Fanconi anemia. Am. J. Pediatr. Hematol. Oncol., 14, 177-185.
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 Arwert, 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. Fanconi Anaemia/Breast Cancer Consortium. (1996) Positional cloning of the Fanconi anaemia group A gene. Nature Genet., 14, 324-328.
13. Lo Ten Foe,J.. Rooimans,M.A., Bosnoyan-Collins,L., Alon,N., Wijker,M., Parker,L., Lightfoot,J., Carreau,M., Callen,D.E, Savoia,A., Cheng,N.C., van Berkel,C.G.M., Stunk,H.P., Gille,J.J.P. Pals,G., Kruyt,F.A.E., Pronk,J.C., Arwert,F., Buchwald,M. and Joenje,H. (1996) Expression cloning of a cDNA for the major Fanconi anaemia gene: FAA. Nature Genet., 14, 320-323.
14. Strathdee,C.A., Gavish,H., Shannon,W.R. and Buchwald,M (1992) Cloning of cDNAs for Fanconi's anaemia by functional complementation. Nature (Lund.), 356, 763-767.
15. De Winter,JP. Waisfisz,Q., Rooimans.,M.A., van Berkel,C.G.M., Bosnoyan-Collins,L., Alon,N., Carreau,M., Bender,O., Demuth,l., SchindlerD., Pronk,J.C. Arwert,F., Hoehn,H., Digweed,M., Buchwald,M. and Joenje,H. (1998) The Fanconi anaemia group G gene FANCG is identical with XRCC9. Nature Genet.. 20. 281-283.
16. Averbeck,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.
17. 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.
18. Lambert,M.W., Tsongalis,G.J.. Lambert,W.C., Hang,B. and Parrish,D.D. (1997) Correction of the DNA repair defect in Fanconi Anemia complementation groups A and D cells. Biochem. Biophys. Res. Commun., 230,587-591.
19. 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.
20. Papadopoulo,D., Averbeck,D. and Moustacchi,E. (1987) The fate of 8-methoxypsoralen-photo-induced DNA interstrand crosslinks in Fanconi's anemia cells of defined genetic complementation groups. Mutat. Res.. 184, 271-280.
21. 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.
22. Zhen,W., Evans,M.K., Haggerty,C.M. and Bohr,V.H. (1993) Deficient gene specific repair of cisplatin-induced lesions in xeroderma pigmentosum and Fanconi's anemia cell lines. Carcinogenesis, 14, 919-924.
23. Fujiwara,Y. (1982) Defective repair of mitomycin C cross-links in Fanconi's anemia and loss in confluent normal human and xeroderma pigmentosum cells. Biochim. Biophys. Acta, 699, 217-225.
24. Gruenert,D.C. and Cleaver,J.E. (1985) Repair of psoralen induced cross-links and monoadducts in normal and repair-deficient human fibroblasts. Cancer Res.. 45, 5399-5404.
25. Cheng,S., Sancar,A. and Hearst,J.E. (1991) RecA-dependent incision of psoralen-crosslinked DNA by (A)BC s:xinuclease. Nucleic Acids Res.. 19, 657-663.
26. Jones,B.K. and Yeung,A.T. (1988) Repair of 4.5',8-trimethylpsoralen monoadducts and cross-links by the Escherichia cu/i UvrABC endonuclease. Prnc. Natl Acad. Sd. USA, 85, 8410-8414.
27. Sladek,F.M., Munn, M.M., Rupp,W.D. and Howard-Flanders,P. (1989) In \'itn> repair of psoralen-DNA cross-links by RecA, UvrABC, and the 5'-exonuclease of DNA polymerase I. J. Biol. Chem., 264, 6755-6765.
28. Van Houten,B. (1990) Nucleotide excision repair in Escherichia coli. Micmbwl. Rev., 54. 18-51.
29. Bessho,T., Mu,D. and Sancar,A. (1997) Initiation of DNA interstrand cross-link repair in humans: the nucleotide excision repair system makes dual incisions 5' to the cross-linked base and removes a 22- to 28-nucleolide-long damage-free strand. Mol. Cell. Biol., 17, 6822-6830.
30. Hoy,C.A., Thompson,L.H., Mooney,C.L. and Salazar,E.P. (1985) Defective DNA cross-link removal in Chinese hamster cell mutants hypersensitive to bifunctional alkylating agents. Cancer Res., 45. 737-1743.
31. Thompson,L.H. ( 1996) Evidence that mammalian cells possess homologous recombinational repair pathways. Mutat. Res., 363, 7-88.
32. Kumaresan,K.R., Hang,B. and Lambert,M.W. (1995) Human endonucleolytic incision of DNA 3' and 5' to a site-directed psoralen monoadduct. J. Biol. Chem.. 270, 30709-30716.
33. Fu,K.-L., Thuß,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.
34. Brois,D.W., McMahon,L.W., Ramos,N.I.. Anglin,L.M., Christopher,E.W. and Lambert,M.W. (1999) A deficiency in a 230 kDa DNA repair protein in Fanconi anemia complementation group A cells is corrected by the FANCA cDNA. Cacinogenesis, 20. 1845-1853.
35. 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.
36. 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, 4187-4192.
37. Gamper,H., Piette,J. and Hearst,J.H. (1984) Efficient formation of a crosslinkable HMT monoadduct at the Kpnl recognition site. Photochem. Photobiol., 40, 29-34.
38. Yeung,A.T., Jones,B.K. and Chu,C.T. (1988) Photoreactivities and thermal properties of psoralen cross-links. Biochemistry. 27, 3204-3210.
39. Putney,S.D., Benkovic,S.J. and Schimmel,P.R. (1981) A DNA fragment with an α-phosphorothioate nucleotide at one end is asymmetrically blocked from digestion by exonuclease III and can be replicated in vivo. Poc. Natl Acad. Sci. USA, 78, 7350-7354.
40. Brautigam,C.A. and Steitz,T.A. (1998) Structural principles for the inhibition of the 3'-5' exonuclease activity of Escherichia coli DNA polymerase I by phosphorothiates. J. Mol. Biol, 277, 363-377.
41. Li,R.Y.. Calsou,P., Jones,C.J. and Salles,B. (1998) Interactions of the transcription/DNA repair factor TFIIH and XP repair proteins with DNA lesions in a cell-free repair assay. J. Mol. Biol, 281, 211-218.
42. Evans,E., Moggs,J.G., Hwangj,R., Egly,J.-M. and Wood,R.D. (1997) Mechanism of open complex and dual incision formation by human nucleotide excision repair factors. EMBO J., 16, 6559-6573.
43. Boyer,V., Moustacchi,E. and Sage,E. (1988) Sequence specificity in photoreaction of various psoralen derivatives with DNA: role in biological activity. Biochemistry, 27, 3011-3018.
44. Cimino,G.D., Shi,Y. and Hearst,J.E. (1986) Wavelength dependence for the photoreversal of a psoralen-DNA cross-link. Biochemistry. 25, 3013-3020.
45. Sage,E. and Moustacchi,E. (1987) Sequence context effects on 8-methoxypsoralen photobinding to defined DNA fragments. Biochemistry, 26,3307-3314.
46. Maxam,A.M. and Gilbert,W. (1980) Sequencing end-labeled DNA with base-specific chemical cleavages. Methods Enzymol., 65, 499-560.
47. Matsunaga,T., Mu1D., Park,C.-H., Reardon,J.T. and Sancar,A. (1995) Human DNA repair excision nuclease. Analysis of the roles of the subunits involved in dual incisions by using anti-XPG and anti-XPF antibodies. J. Biol. Chem., 270, 20862-20869.
48. Evans,E., Moggs,J.G.. Hwangj,R., Egly,J.-M. and Wood,R.R. (1997) Mechanism of open complex and dual incision formation by human nucleotide excision repair factors. EMBO J., 16, 6559-6573.
49. Cimino,G.D., Gamper,H.B., Isaacs,S.T. and Hearst,U.E. (1985) Psoralens as photoactive probes of nucleic acid structure and function: organic chemistry, photochemistry, and biochemistry. Annu. Rev. Biochem.. 54. 1151-1193.
50. Kumaresan,K.R., Ramaswamy,M. and Yeung,A.T. (1992) Structure of the DNA interstrand cross-link of 4,5',8-trimethylpsoralen. Biochemistry, 31, 6774-6783.
51. Tomic,M.T., Wemmer,D.E. and Kim,S.H. (1987) Structure of a psoralen cross-linked DNA in solution by nuclear magnetic resonance. Science, 238, 1722-1725.
52. Digweed,M. and Sperling,K. (1996) Molecular analysis of Fanconi anaemia. BioEssays., 18, 579-585.
53. Buchwald,M. and Moustacchi,E. (1998) Is Fanconi anemia caused by a defect in the processing of DNA damage? Mutat. Res.. 408, 75-90.
54. Lo Ten Foe,J.R., Kwee,M.U. Rooimans,M.A., Oostra,A.B., Veerman,A.J.P., van Weel,M., Pauli,R.M., Shadidi,N.T, Dokal,l., Roberts,I., Altay,C., Gluckman,E., Gibson,R.A.. Mathew,C.G., Arwert,F. and Joenje,H. (1997) Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance. Eur. J. Hum. Genet., 5, 137-148.
55. Waisfisz,Q., Morgan,N.V., Savino,M., de Winter,J.P., van Berkel,C.G.M., Hoatlin,M.E., Ianzano,L., Gibson,R.A.. Arwert,F., Savoia,A., Mathew,C.G.. Pronk,J.C. and Joenje,H. (1999) Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism. Nature Genet., 22, 379-383.
56. Cole,R.S. (1973) Repair of DNA containing interstrand crosslinks in Escherichia coli: sequential excision and recombination. Proc. Natl Acad. Sci. USA, 70, 1064-1068.
57. Dardalhon,M.D. and Averbeck,D. (1995) Pulsed-field gel electrophoresis analysis of the repair of psoralen plus VUAS induced DNA photoadducts in Saccharomyces cerevisiae. Mutat. Res., 336, 49-60.
58. Jachymezyk,W.J., von Borstel, R.C.. Mowat,M.R.A. and Hastings,P.J. (1981) 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., 182, 196-205.
59. Magana-Schwencke,N., Henriques,J.-A.P., Chanel,R. and Moustacchi,E. (1982) The fate of 8-methoxypsoralen photoinduced crosslinks in nuclear and mitochondrial yeast DNA: comparison of wild-type and repair deficient strains. Proc. Natl Acad. Sci. USA, 79, 1722-1726.
60. Saffran,W.A., Greenberg,R.B., Thaler-Scheer,M.S. and Jones,M.M. (1994) Single strand and double strand DNA damage-induced reciprocal recombination in yeast. Dependence on nucleotide excision repair and RADl recombination. Nucleic Acids Res., 22. 2823-2829.
61. Calsou,P., Sage,E., Moustacchi,E. and Salles,B. (1996) Preferential repair incision of cross-links versus monoadducts in psoralen-damaged plasmid DNA by human cell-free extracts. Biochemistry. 35, 14963-14969.
62. de Laat,W.L., Appeldoom,E., Jaspers,J.G.J. and Hoeijmakers,J.H.J. (1998) DNA structural elements required for ERCCl-XPF endonuclease activity. J. Biol. Chem., 273, 7835-7842.
63. Thacker,J. (I999| The role of homologous recombination processes in the repair of severe forms of DNA damage in mammalian cells. Biochemie. 81, 77-85.
64. Faruqi,A.R, Seidman,M.M., Segal,D.J., Carroll,D. and Glazer,P.M. (1996) Recombination induced by triple-helix-targeted DNA damage in mammalian cells. Mol. Cell. Biol., 16, 6820-6828.
65. Svoboda,L., Taylor,J.-S., Hearst,J.E. and Sancar,A. (1993) DNA repair by eukaryotic nucleotide excision nuclease. J. Biol. Chem., 268, 1931-1936.
66. Nichols,A.F. (1994) Characterization of mammalian excision nuclease, PhD dissertation, University of North Carolina, Chapel Hill, NC.
67. Mu,D., Park,C.-H., Matsunaga,T., Hsu,D.S., Reardon,J.T. and Sancar,A. ( 1995) Reconstitution of human DNA repair excision nuclease in a highly denned system. J. Biol. Chem., 270, 2415-2418.
68. Sijbers,A.M, De Laat,W.L., Ariza, R.R., Biggerstaff,M., Wei,Y.-F., Moggs,J.G., Carter,K.C. Shell,B.K., Evans,E.. De Jong,M.C, Rademakers,S., De Rooij,J., Jaspers,N.G.J and Wood,R.D. (1996) Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease. Cell. 86, 811-822.
69. Jones,B.K. and Yeung,A.T. (1990) DNA base composition determines the specificity of UvrABC endonuclease incision of a psoralen cross-link. J. Biol. Chem., 265, 3489-3496.
70. Van Houten,B., Gamper,H., Holbrook,S.R., Hearst,J.E. and Sancar,A. (1986) Action mechanism of ABC excision nuclease on a DNA substrate containing a psoralen crosslink at a defined position. Proc. Natl Acad. Sci. USA, 83, 8077-8083.
71. McMahon,L.W., Walsh,C.E. and Lambert,M.W. (1999) Human alpha spectrin II and the Fanconi anemia proteins FANCA and FANCC interact to form a nuclear complex. J. Biol. Chem., 274, 32904-32908.
72. Bachs,O., Lanini,L., Serratosa,J., Coll,M.J., Bastos,R., Aligue,R., Rius,E and Carafoli,E. (1990) Calmodulin-binding proteins in the nuclei of quiescent and proliferatively activated rat liver cells. J. Biol. Chem.. 265. 18595-18600.
73. Koehler,D.R. and Hanawalt,P.C. (1996) Recruitment of damaged DNA to the nuclear matrix in hamster cells following ultraviolet irradiation. Nucleic Acids Res., 24, 2877-2884.
74. Johnston,P.J., MacPhail,S.H., Banath,J.P. and Olive,P.L. (1998) Higher-order structure-dependent repair of DNA double-strand breaks: factors affecting elution of DNA from nucleoids. Radiat. Res., 149, 533-542.
75. Balajee,A.S., May,A. and Bohr,VA (1998) Fine structural analysis of DNA repair in mammalian cells. Mutat. Res.. 404, 3-11.