Genetic complementation analysis of ataxia telangiectasia and nijmegen breakage syndrome: A survey of 50 patients

Cytogenetics and Cell Genetics

Volumn 49, Issue 4, 1988, Pages 259-263

  Jaspers, Nicolass G J ^a   Gatti, R A ^b   Baan, C ^a   Linssen, P C M L ^a   Bootsma, D ^a  

^a ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ATAXIA TELANGIECTASIA; CELL CULTURE; CHROMOSOME BREAKAGE; CYTOLOGY; GENETIC COMPLEMENTATION; HEREDITY; HUMAN; HUMAN CELL; NIJMEGEN BREAKAGE SYNDROME; RADIOSENSITIVITY;

ATAXIA TELANGIECTASIA; CELL SURVIVAL; CELLS, CULTURED; CHROMOSOME FRAGILITY; DNA; DNA DAMAGE; GENETIC COMPLEMENTATION TEST; HUMAN; RADIATION TOLERANCE; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, NON-P.H.S.; SYNDROME;

EID: 0024148621     PISSN: 03010171     EISSN: 1424859X     Source Type: Journal    
DOI: 10.1159/000132673     Document Type: Article

References (35)

1. Bridges BA, Hamden DG (eds): Ataxia-Telangiectasia: A Molecular Link Between Cancer, Neuropathology and Immune Deficiency (John Wiley & Sons. Chichester 1982).
2. Chen P, Imray FP, Kidson C: Gene dosage and complementation of ataxia-telangiectasia lymphoblastoid cell lines assayed by induced chromosomal aberrations. Mutat Res 129:165-172 (1984).
3. Chessa L, Federico A, Arlett CF, Harcourt SA, Cole J, Palmieri S, Guazzi GC, Candini E: Is the ataxia-telangiectasia gene for radiosensitivity in Italy different from the classicat one? Proceedings of the Seventh International Congress on Human Genetics, p 696 (1986).
4. Conley ME, Spinner MB, Emmanuel BS, Nowell PC, Nichols WW: A chromosome breakage syndrome with profound immunodeficiency. Blood 67:1251-1256 (1986).
5. De Wit J, Jaspers NGJ, Bootsma D: The rate of DNA synthesis in normal human and ataxia-telangiectasia cells after exposure to X-irradiation. Mutat Res 80:221-226 (1981).
6. Fiorilli M, Antonetli A, Russo G, Crescendi M, Carbonari M, Petrinelli P: Variant of ataxia-telangiectasia with a low level radiosensitivity. Hum Genet 70:274-277 (1985).
7. Gatti RA, Biek M, Tam CF, Medici MA, Oxelius VA, Holland M, Goldstein AL, Boder E: Ataxia-telangiectasia: a multiparameter analysis of eight families. Clin Immunol Immunopathol 23:501-516 (1982)
8. Gatti R A, Davis RC, Weeks DE, Jaspers NGJ, Sparkes RS, Lange K: Genetic linkage studies of ataxia-telangiectasia: phenotypic blood markers. Dis Markers 5:207-213 (1987).
9. Gatti RA, Swift M (eds): Ataxia-Tclangiectasia: Genetics, Immunology and Neuropathology of a Degenerative Disease of Childhood. Kroc Foundation Series. Vol 19 (Alan R Liss. New York 1985).
10. Hecht F, Kaiser-McCaw B: Ataxia-telangiectasia: genetics and heterogeneity, in Bridges BA. Hamden DG (eds): Ataxia-Telangiectasia. a Molecular Link Between Cancer. Neuropathology and Immune Deficiency (John Wiley & Sons. Chichester 1982).
11. Inoue T, Yokoiyama A, Kada T: DNA repair enzyme deficiency and in vitro complementation of the enzyme activity in cell-free extracts from ataxia-telangiectasia fibroblasts. Biochim biophys Acta 655:49-53 (1981).
12. Jaspers NGJ, Bootsma D: Genetic heterogeneity in ataxia-telangiectasia studied by cell fusion. Proc natn Acad Sci. USA 79:2641-2644 (1982).
13. Jaspers NGJ, De Wit J, Regulski MR, Bootsma D: Abnormal regulation of DNA replication and increased lethality in ataxia-telangiectasia cells exposed to carcinogenic agents. Cancer Res 42:335-341 (1982).
14. Jaspers NGJ, de Jansen-Van Kuilen G, Bootsma D: Complementation analysis of xeroderma pigmentosum variants. Expl Cell Res 136:81-90 (1981a).
15. Jaspers NGJ, Painter RB, Paterson MC, Kidson C, Inoue T: Complementation analysis of ataxia-telangiectasia. in Gatti RA. Swift M (eds): Ataxia-Telangiectasia: Genetics, Immunology and Neuropathology of a Degenerative Disease of Childhood. Kroc Foundation Series. Vol 19. pp 147-162 (Alan R Liss. New York 1985).
16. Jaspers NGJ, Scheres JMJC, De Wit J, Bootsma D: Rapid diagnostic test for ataxia-telangiectasia. Lancet ii:473 (1981b).
17. Jaspers NGJ, Taalman RDFM, Baan C: Patients with an inherited syndrome characterized by immunodeficiency. microcephaly and chromosomal instability: genetic relationship to ataxia-telangiectasia. Am J hum Genet 42:66-73 (1988).
18. Jeggo PA: Genetic analysis of x-ray sensitive mutants of the CHO cell line. Mutat Res 146:265-270 (1985).
19. Jones NJ. Cox R. Thacker J: Six complementation groups for ionizing radiation sensitivity in Chinese hamster cells. Mutat Res 193:139-144(1988).
20. Kraemer KH, Lee MM, Scotto J: Xeroderma pigmentosum: cutaneous, ocular and neurologic abnormalities in 830 published cases. Arch Dermatol 123:241-250 (1987).
21. Lehmann AR: Three complementation groups in Cockayne’s syndrome. Mutat Res 106:347-356 (1982).
22. Lehmann AR, Jaspers NGJ, Gatti RA: Meeting report: workshop on ataxia-telangiectasia. Cancer Res 47:4750-4751 (1987).
23. Murnane JP, Painter RB: Complementation of the defects in DNA synthesis in irradiated and unirradiated ataxia-telangiectasia cells. Proc natn Acad Sci, USA 79:1960-1963 (1982).
24. Painter RB: Radioresistant DNA synthesis: an intrinsic feature of ataxia-telangiectasia. Mutat Res 84:183-190 (1981).
25. Papadopoulo D, Averbeck D, Moustacchi E: The fate of 8MOP-photoinduced DNA interstrand crosslinks in Fanconi’s anemia cells of defined complementation groups. Mutat Res 184:271-280 (1987).
26. Paterson MC, Smith BP, Knight PA, Anderson AK: Ataxiatelangiectasia: an inherited human disease involving radiosensitivity, malignancy and defective DNA repair, in Castellani A (ed): Research in Photobiology, pp 207-218 (Plenum Press. New York 1977).
27. Robson CN, Hall A, Harris AL, Hickson ID: Bleomycin and X-ray hypersensitive Chinese hamster cell mutants: genetic analysis and cross-resistance to neocarzinostatin. Mutat Res 193:157-166 (1988).
28. Sedgwick RP, Boder E: Ataxia-telangiectasia, in Vinken PV, Bruyn GW (eds): Handbook of Clinical Neurology, Vol 14, pp 267-339 (North-Holland. Amsterdam 1972).
29. Seemanova EE, Passarge E, Beneskova D, Houstek J, Kasai P, Sevcikova M: Familial microcephaly with normal intelligence, immunodeficiency and risk for lymphoreticular malignancies. Am J med Genet 20:639-648 (1985).
30. Taalman RDFM, Jaspers NGJ, Scheres JMJC, De Wit J, Hustinx TWJ: Hypersensitivity in vitro in a new chromosome instability syndrome, the Nijmegen breakage syndrome. Mutat Res 112:23-32 (1983).
31. Taylor AMR, Oxford JM, Metcalfe JA: Spontaneous cytogenetic abnormalities in lymphocytes from 13 patients with ataxia-telangiectasia. Int J Cancer 27:311-319 (1981).
32. Thompson LH, Busch DB, Brookman K, Mooney CL, Glaser DA: Genetic diversity of UV-sensitive DNA repair mutants of Chinese hamster ovary cells. Proc natn Acad Sci. USA 78:3734-3737 (1981).
33. Wecmaes CMR, Hustinx TWJ, Scheres JMJC, Van Munster PJJ, Bakkeren JAJM, Taalman RDFM: New chromosome instability disorder: the Nijmegen breakage syndrome. Acta paediat scand 70:557-562 (1981).
34. Wegner RD, Metzger M, Hanefelt F, Jaspers NGJ, Baan C, Magdorf K, Kunze J, Sperling K: A new chromosome instability disorder confirmed by complementation studies. Clin Genet 33:20-32 (1988).
35. Ziv Y, Amid A, Jaspers NGJ, Berkel AI, Shiloh Y: Ataxia-telangiectasia: a variant with altered in vitro phenotype of fibroblast cells. Mutat Res (1989. in press).