Immortalization and characterization of Nijmegen Breakage Syndrome fibroblasts

Mutation Research - DNA Repair

Volumn 434, Issue 1, 1999, Pages 17-27

  Kraakman Van Der Zwet, Maria ^a,b   Overkamp, Wilhelmina J I ^a,b   Friedl, Anna A ^c   Klein, Binie ^a   Verhaegh, Gerald W C T ^d   Jaspers, Nicolaas G J ^e   Midro, Alina T ^f   Eckardt Schupp, Friederike ^c   Lohman, Paul H M ^a,b   Zdzienicka, Małgorzata Z ^a,b  

^a LEIDEN UNIVERSITY   (Netherlands)

^b JA Cohen Institute Interuniversity Research Institute for Radiopathology and Radiation Protection   (Netherlands)

^c INSTITUTE OF EPIDEMIOLOGY   (Germany)

^d RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

^e ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^f MEDICAL UNIVERSITY OF BIALYSTOK   (Poland)

Author keywords

Double strand break repair; Immortalization; Nijmegen breakage syndrome; Radioresistant DNA synthesis; X ray sensitivity

Indexed keywords

BLEOMYCIN; CAMPTOTHECIN; ETOPOSIDE; MITOMYCIN C; NIBRIN; UNCLASSIFIED DRUG;

ARTICLE; CELL IMMORTALIZATION; CONTROLLED STUDY; DNA SYNTHESIS; DRUG SENSITIVITY; FIBROBLAST; GENE MUTATION; HUMAN; HUMAN CELL; MALE; NIJMEGEN BREAKAGE SYNDROME; NORMAL HUMAN; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; RADIOSENSITIVITY; SIMIAN VIRUS 40; VIRUS CELL TRANSFORMATION;

ABNORMALITIES, MULTIPLE; ANTINEOPLASTIC AGENTS; BLEOMYCIN; CAMPTOTHECIN; CELL LINE; CELL LINE, TRANSFORMED; CELL SURVIVAL; CELL TRANSFORMATION, VIRAL; CHILD, PRESCHOOL; CHROMOSOME BREAKAGE; DNA; DNA DAMAGE; DNA REPAIR; ETOPOSIDE; FIBROBLASTS; HELA CELLS; HUMANS; MITOMYCIN; MUTATION; SYNDROME; X-RAYS;

EID: 0033008552     PISSN: 09218777     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0921-8777(99)00009-9     Document Type: Article

References (50)

1. van der Burgt I., Chrzanowska K.H., Smeets D., Weemaes C. Nijmegen Breakage Syndrome. J. Med. Genet. 33:1996;153-156.
2. Shiloh Y. Ataxia-telangiectasia and the Nijmegen Breakage Syndrome: related disorders but genes apart. Annu. Rev. Genet. 31:1997;635-662.
3. Jongmans W., Vuillaume M., Chrzanowska K., Smeets D., Sperling K., Hall J. Nijmegen Breakage Syndrome cells fail to induce the p53-mediated DNA damage response following exposure to ionizing radiation. Mol. Cell Biol. 17:1997;5016-5022.
4. Matsuura K., Balmukhanov T., Tauchi H., Weemaes C., Smeets D., Chrzanowska K., Endou S., Matsuura S., Komatsu K. Radiation induction of p53 in cells from Nijmegen Breakage Syndrome is defective but not similar to ataxia-telangiectasia. Biochem. Biophys. Res. Commun. 242:1998;602-607.
5. Yamazaki V., Wegner R.D., Kirchgessner C.U. Characterization of cell cycle checkpoint responses after ionizing radiation in Nijmegen Breakage Syndrome. Cancer Res. 58:1998;2316-2322.
6. Antoccia A., Ricordy R., Maraschio P., Prudente S., Tanzarella C. Chromosomal sensitivity to clastogenic agents and cell cycle perturbations in Nijmegen Breakage Syndrome lymphoblastoid cell lines. Int. J. Radiat. Biol. 71:1997;41-49.
7. Sullivan K.E., Veksler E., Lederman H., Lees-Miller S.P. Cell cycle checkpoints and DNA repair in Nijmegen Breakage Syndrome. Clin. Immunol. Immunopathol. 82:1997;43-48.
8. Seyschab H., Schindler D., Friedl R., Barbi G., Boltshauser E., Fryns J.P., Hanefeld F., Korinthenberg R., Krageloh-Mann I., Scheres J.M. Simultaneous measurement, using flow cytometry, of radiosensitivity and defective mitogen response in ataxia telangiectasia and related syndromes. Eur. J. Pediatr. 151:1992;756-760.
9. Nove J., Little J.B., Mayer P.J., Troilo P., Nichols W.W. Hypersensitivity of cells from a new chromosomal-breakage syndrome to DNA-damaging agents. Mutation Res. 163:1986;255-262.
10. Saar K., Chrzanowska K.H., Stumm M., Jung M., Nurnberg G., Wienker T.H., Seemanova E., Wegner R.D., Reis A., Sperling K. The gene for the ataxia-telangiectasia variant, Nijmegen Breakage Syndrome, maps to a 1-cM interval on chromosome 8q21. Am. J. Hum. Genet. 60:1997;605-610.
11. Matsuura S., Weemaes C., Smeets D., Takami H., Kondo N., Sakamoto S., Yano N., Nakamura A., Tauchi H., Endo S., Oshimura M., Komatsu K. Genetic mapping using microcell-mediated chromosome transfer suggests a locus for Nijmegen Breakage Syndrome at chromosome 8q21-24. Am. J. Hum. Genet. 60:1997;1487-1494.
12. Varon R., Vissinga C., Platzer M., Cerosaletti K.M., Chrzanowska K.H., Saar K., Beckmann G., Seemanova E., Cooper P.R., Nowak N.J., Stumm M., Weemaes C.M., Gatti R.A., Wilson R.K., Digweed M., Rosenthal A., Sperling K., Concannon P., Reis A. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen Breakage Syndrome. Cell. 93:1998;467-476.
13. Matsuura S., Tauchi H., Nakamura A., Kondo N., Sakamoto S., Endo S., Smeets D., Solder B., Belohradsky B.H., Der Kaloustian V.M., Oshimura M., Isomura M., Nakamura Y., Komatsu K. Positional cloning of the gene for Nijmegen Breakage Syndrome. Nat. Genet. 19:1998;179-181.
14. Carney J.P., Maser R.S., Olivares H., Davis E.M., Le Beau M., Yates J.R. III, Hays L., Morgan W.F., Petrini J.H. The hMre11/hRad50 protein complex and Nijmegen Breakage Syndrome: linkage of double-strand break repair to the cellular DNA damage response. Cell. 93:1998;477-486.
15. Maser R.S., Monsen K.J., Nelms B.E., Petrini J.H. HMre11 and hRad50 nuclear foci are induced during the normal cellular response to DNA double-strand breaks. Mol. Cell Biol. 17:1997;6087-6096.
16. Ivanov E.L., Sugawara N., White C.I., Fabre F., Haber J.E. Mutations in XRS2 and RAD50 delay but do not prevent mating-type switching in Saccharomyces cerevisiae. Mol. Cell Biol. 14:1994;3414-3425.
17. Ivanov E.L., Sugawara N., Fishman-Lobell J., Haber J.E. Genetic requirements for the single-strand annealing pathway of double-strand break repair in Saccharomyces cerevisiae. Genetics. 142:1996;693-704.
18. Tsubouchi H., Ogawa H. A novel mre11 mutation impairs processing of double-strand breaks of DNA during both mitosis and meiosis. Mol. Cell Biol. 18:1998;260-268.
19. Paull T.T., Gellert M. The 3′ to 5′ exonoclease activity of Mre11 facilitates repair of DNA double-strand breaks. Mol. Cell. 1:1998;969-979.
20. Trujillo K.M., Yuan S.S., Lee E.Y., Sung P. Nuclease activities in a complex of human recombination and DNA repair factors Rad50, Mre11 and p95. J. Biol. Chem. 273:1998;21447-21450.
21. Boulton S.J., Jackson S.P. Components of the ku-dependent non-homologous end-joining pathway are involved in telomeric length maintenance and telomeric silencing. EMBO J. 17:1998;1819-1828.
22. Nugent C.I., Bosco G., Ross L.O., Evans S.K., Salinger A.P., Moore J.K., Haber J.E., Lundblad V. Telomere maintenance is dependent on activities required for end repair of double-strand breaks. Curr. Biol. 8:1998;657-660.
23. Weaver D.T. Telomeres: moonlighting by DNA repair proteins. Curr. Biol. 8:1998;R492-R494.
24. Seemanova E. An increased risk for malignant neoplasms in heterozygotes for a syndrome of microcephaly, normal intelligence, growth retardation, remarkable facies, immunodeficiency and chromosomal instability. Mutation Res. 238:1990;321-324.
25. Gatti R.A., Berkel I., Boder E., Braedt G., Charmley P., Concannon P., Ersoy F., Foroud T., Jaspers N.G.J., Lange K., Lathrop G.M., Leppert M., Nakamura Y., O'Connell P., Paterson M., Salser W., Sanal O., Silver J., Sparkes R.S., Susi E., Weeks D.E., Wei S., White R., Yoder F. Localization of ataxia-telangiectasia gene to chromosome 11q22-23. Nature. 336:1988;577-580.
26. Savitsky K., Bar-Shira A., Gilad S., Rotman G., Ziv Y., Vanagaite L., Tagle D.A., Smith S., Uziel T., Sfez S., Ashkenazi M., Pecker I., Friydman M., Harnik R., Patanjali S.R., Simmons A., Clines G.A., Sartiel A., Gatti R.A., Chessa L., Sanal O., Lavin M.F., Jaspers N.G.J., Taylor A.M.R., Arlett C.F., Miki T., Weissman S.M., Lovett M., Collins F.S., Shiloh Y. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science. 268:1995;1749-1753.
27. Savitsky K., Sfez S., Tagle D.A., Ziv Y., Sartiel A., Collins F.S., Shiloh Y., Rotman G. The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species. Hum. Mol. Genet. 4:1995;2025-2032.
28. Foray N., Priestley A., Alsbeih G., Badie C., Capulas E.P., Arlett C.F., Malaise E.P. Hypersensitivity of ataxia telangiectasia fibroblasts to ionizing radiation is associated with a repair deficiency of DNA double-strand breaks. Int. J. Radiat. Biol. 72:1997;271-283.
29. Huschtscha L.I., Holliday R. Limited and unlimited growth of SV40-transformed cells from human diploid MRC-5 fibroblasts. J. Cell Sci. 63:1983;77-99.
30. Arlett C.F., Green M.H., Priestley A., Harcourt S.A., Mayne L.V. Comparative human cellular sensitivity: I The effect of SV40 transformation and immortalisation on the gamma-irradiation survival of skin derived fibroblasts from normal individuals and from ataxia-telangiectasia patients and heterozygotes. Int. J. Radiat. Biol. 54:1988;911-928.
31. Taylor A.M., Harnden D.G., Arlett C.F., Harcourt S.A., Lehmann A.R., Stevens S., Bridges B.A. Ataxia telangiectasia: a human mutation with abnormal radiation sensitivity. Nature. 258:1975;427-429.
32. Graham F.L., van der Eb A.J. A new technique for the assay of ineffectivity of human adenovirus 5 DNA. Virology. 52:1973;456-467.
33. Gluzman Y., Sambrook J.F., Frisque R.J. Expression of early genes of origin-defective mutants of simian virus 40. Proc. Natl. Acad. Sci. U.S.A. 77:1980;3898-3902.
34. Dinsart C., Cornelis J.J., Klein B., van der Eb A.J., Rommelaere J. Transfection with extracellularly UV-damaged DNA induces human and rat cells to express a mutator phenotype towards parvovirus H-1. Mol. Cell Biol. 4:1984;324-328.
35. J.F. Sambrook, E.F. Fritsch, T. Maniatis, Molecular cloning: a laboratory manual, 2nd edn., Cold Spring Harbor Laboratory Press, USA, 1989.
36. de Wit J., Jaspers N.G., Bootsma D. The rate of DNA synthesis in normal human and ataxia telangiectasia cells after exposure to X-irradiation. Mutation Res. 80:1981;221-226.
37. Stamato T., Guerriero S., Denko N. Two methods for assaying DNA double-strand break repair in mammalian cells by asymmetric field inversion gel electrophoresis. Radiat. Res. 133:1993;60-66.
38. Friedl A.A., Kraxenberger A., Eckardt-Schupp F. An electrophoretic approach to the assessment of the spatial distribution of DNA double-strand breaks in mammalian cells. Electrophoresis. 16:1995;1865-1874.
39. Zdzienicka M.Z. Mammalian X-ray sensitive mutants: a tool for the elucidation of the cellular response to ionizing radiation. Cancer Surv. 28:1996;281-293.
40. Weemaes C.M., Hustinx T.W., Scheres J.M., van Munster P.J., Bakkeren J.A.J.M., Taalman R.D. Hypersensitivity to ionizing radiation, in vitro, in a new chromosomal breakage disorder, the Nijmegen Breakage Syndrome. Acta Paediatr. Scand. 70:1981;557-564.
41. Perez-Vera P., Gonzalez-del Angel A., Molina B., Gomez L., Frias S., Gatti R.A., Carnevale A. Chromosome instability with bleomycin and X-ray hypersensitivity in a boy with Nijmegen Breakage Syndrome. Am. J. Med. Genet. 70:1997;24-27.
42. Chen A., Liu L.F. DNA topoisomerases: essential enzymes and lethal targets. Annu. Rev. Pharmacol. Toxicol. 34:1994;191-218.
43. Gupta M., Abdel-Megeed M., Hoki Y., Kohlhagen G., Paull K., Pommier Y. Eukaryotic DNA topoisomerases mediated DNA cleavage induced by a new inhibitor: NSC 665517. Mol. Pharmacol. 48:1995;658-665.
44. G.W.C.T. Verhaegh, Radioresistant DNA synthesis and ionizing radiation-sensitivity in mammalian cells. PhD thesis, Medical Genetics Center South-West Netherlands, Leiden University, Leiden, 1996.
45. Carrier F., Fornace A.J.J. Jr. Ataxia telangiectasia syndrome. Encyclopedia of Cancer. 1:1997;100-111.
46. Smith P.J., Makinson T.A., Watson J.V. Enhanced sensitivity to camptothecin in ataxia-telangiectasia cells and its relationship with the expression of DNA topoisomerase I. Int. J. Radiat. Biol. 55:1989;217-231.
47. Haber J.E. The many interfaces of Mre11. Cell. 95:1998;583-586.
48. Badie C., Iliakis G., Foray N., Alsbeih G., Cedervall B., Chavaudra N., Pantelias G., Arlett C., Malaise E.P. Induction and rejoining of DNA double-strand breaks and interphase chromosome breaks after exposure to X rays in one normal and two hypersensitive human fibroblast cell lines. Radiat. Res. 144:1995;26-35.
49. Rotman G., Shiloh Y. Ataxia-telangiectasia: is ATM a sensor of oxidative damage and stress? Bioessays. 19:1997;911-917.
50. Xiao Y., Weaver D.T. Conditional gene targeted deletion by Cre recombinase demonstrates the requirement for the double-strand break repair Mre11 protein in murine embryonic stem cells. Nucleic Acids Res. 25:1997;2985-2991.