Fanconi Anemia pp 213-225 | Cite as

Complementation Studies in Fanconi Anemia

  • A. D. Auerbach
  • R. E. Koorse
  • R. Ghosh
  • V. S. Venkatraj
  • M. Zhang
  • N. Chiorazzi

Abstract

Fanconi anemia (FA) was originally described as an autosomal recessive disorder characterized by a progressive pancytopenia, diverse congenital abnormalities, and an increased predisposition to the development of malignancy (Fanconi 1967; Schroeder et al. 1976). More recently, it has been recognized that the phenotype is so variable that diagnosis on the basis of clinical manifestations alone is difficult and often unreliable (Glanz and Fraser 1982; Alter and Potter 1983). The enormous clinical variation seen in FA suggests that there is likely to be an underlying genetic heterogeneity.

Keywords

Anemia Fluorescein Guanine Isothiocyanate Mitomycin 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Alter BP, Potter NU (1983) Long term outcome in Fanconi’s anemia: description of 26 cases and review of the literature. In: German J (ed) Chromosome mutation and neoplasia. Liss, New York, pp 43–62Google Scholar
  2. Auerbach AD, Wolman SR (1976) Susceptibility of Fanconi’s anaemia fibroblasts to chromosome damage by carcinogens. Nature 261: 494–496PubMedCrossRefGoogle Scholar
  3. Auerbach AD, Adler B, Chaganti RSK (1981) Prenatal and postnatal diagnosis and carrier detection of Fanconi anemia by a cytogenetic method. Pediatrics 67: 128–135PubMedGoogle Scholar
  4. Auerbach AD, Venkatraj VS, Chiorazzi N, Carter DM (1985) Isolation of a human-human hybridoma showing complementation of a gene for hypersensitivity to clastogens. Environ Mutagen 7 (Suppl 3): 47–48Google Scholar
  5. Caspersson T, Zech L, Johansson C, Modest EJ (1970) Identification of human chromosomes by DNA-binding fluorescing agents. Chromosoma 30: 215–227PubMedCrossRefGoogle Scholar
  6. Chiorazzi N, Wasserman RL, Kunkel HG (1982) Use of Epstein-Barr virus-transformed B cell lines for the generation of immunoglobulin-producing human B cell hybridomas. J Exp Med 156: 930–935PubMedCrossRefGoogle Scholar
  7. Diatloff-Zito C, Papadopoulo D, Averbeck D, Moustacchi E (1986) Abnormal response to DNA crosslinjcing agents of Fanconi anemia fibroblasts can be corrected by transfection with normal human DNA. Proc Natl Acad Sci USA 83: 7034–7038PubMedCrossRefGoogle Scholar
  8. Duckworth-Rysiecki G, Cornish K, Clarke CA, Buchwald M (1985) Identification of two complementation groups in Fanconi anemia. Somatic Cell Mol Genet 11: 35–41CrossRefGoogle Scholar
  9. Fanconi G (1967) Familial constitutional panmyelocytopathy, Fanconi’s anemia (FA). I. Clinical aspects. Semin Hematol 4: 233–240PubMedGoogle Scholar
  10. Fischer E, Keijzer W, Thielmann HW, Popanda O, Bohnert E, Edler L, Jung EG, Bootsma D (1985) A ninth complementation group in xeroderma pigmentosum, XPI. Mutat Res 145: 217–225PubMedGoogle Scholar
  11. Fujiwara Y, Tatsumi M, Sasaki MS (1977) Cross-link repair in human cells and its possible defect in Fanconi’s anemia cells. J Mol Biol 113: 635–649PubMedCrossRefGoogle Scholar
  12. Giallongo A, Kochoumian L, King TP (1982) Enzyme- and radioimmunoassays for specific murine IgE and IgG with different solid-phase immunosorbents. J Immunol Methods 52: 379–393PubMedCrossRefGoogle Scholar
  13. Glanz A, Fraser FC (1982) Spectrum of anomalies in Fanconi anaemia. J Med Genet 19: 412–416PubMedCrossRefGoogle Scholar
  14. Hoy CA, Thompson LH, Mooney CL, Salazar EP (1985) Defective DNA cross-link removal in Chinese hamster cell mutants hypersensitive to Afunctional alkylating agents. Cancer Res 45: 1–7CrossRefGoogle Scholar
  15. Ishida R, Buchwald M (1982) Susceptibility of Fanconi’s anemia lymphoblasts to DNA-cross-linking and alkylating agents. Cancer Res 42: 4000–4006PubMedGoogle Scholar
  16. Jaspers NGJ, Bootsma D (1982) Genetic heterogeneity in ataxia telangiectasia studied by cell fusion. Proc Natl Acad Sci USA 79: 2641–2644PubMedCrossRefGoogle Scholar
  17. Kennett RH, Denis KA, Tung AS, Klinman NR (1978) Hybrid plasmacytoma production: fusions with adult spleen cells, monoclonal spleen fragments, neonatal spleen cells and human spleen cells. Curr Top Microbiol Immunol 81: 77–91PubMedGoogle Scholar
  18. Lyons LB, Cox RP, Dancis J (1973) Complementation analysis of maple syrup urine disease in heterokaryons derived from cultured human fibroblasts. Nature 243: 533–535PubMedCrossRefGoogle Scholar
  19. Moustacchi E, Diatloff-Zito C (1985) DNA semi-conservative synthesis in normal and Fanconi anemia fibroblasts following treatment with 8-methoxypsoralen and near ultraviolet light or with X-rays. Hum Genet 70: 236–242PubMedCrossRefGoogle Scholar
  20. Moustacchi E, Papadopoulo D, Diatloff-Zito C, Buchwald M (1987) Two complementation groups of Fanconi’s anemia differ in their phenotypic response to a DNA cross-linking treatment. Hum Genet 75: 45–47PubMedGoogle Scholar
  21. Mumane JP, Painter RB (1982) Complementation of the defects in DNA synthesis in irradiated and unirradiated ataxia-telangiectasia cells. Proc Natl Acad Sci USA 79: 1960–1963CrossRefGoogle Scholar
  22. Poll EH A, Arwert F, Kortbeek HT, Eriksson AW (1984) Fanconi anaemia cells are not uniformly deficient in unhooking of DNA interstrand crosslinks, induced by mitomycin C or 8-methoxypsoralen plus UVA. Hum Genet 68: 228–234PubMedCrossRefGoogle Scholar
  23. Rattazzi MC, Brown JA, Davidson RG, Shows TB (1976) Studies on complementation of hexosaminidase deficiency in human GM2 ganliosidosis. Am J Hum Genet 28: 143–154PubMedGoogle Scholar
  24. Royer-Pokora B, Haseltine WA (1984) Isolation of UV-resistant revertants from a xeroderma pigmentosum complementation group A cell line. Nature 311: 390–392PubMedCrossRefGoogle Scholar
  25. Rubin JS, Prideaux VR, Willard HF, Dulhanty AM, Whitmore GF, Bernstein A (1985) Molecular cloning and chromosomal localization of DNA sequences associated with a human DNA repair gene. Mol Cell Biol 5: 398–405PubMedGoogle Scholar
  26. Sasaki MS, Tonomura A (1973) A high susceptibility of Fanconi’s anemia to chromosome breakage by DNA cross-linking agents. Cancer Res 33: 1829–1836PubMedGoogle Scholar
  27. Schroeder TM, Anschütz F, Knopp A (1964) Spontane Chromosomenaberrationen bei familiärer Panmyelopathie. Humangenetik 1: 194–196PubMedCrossRefGoogle Scholar
  28. Schroeder TM, Tilgen D, Krüger J, Vogel F (1976) Formal genetics of Fanconi’s anemia. Hum Genet 32: 257–288PubMedCrossRefGoogle Scholar
  29. Schultz RA, Barbis DP, Friedberg EC (1985) Studies on gene transfer and reversion to UV resistance in xeroderma pigmentosum cells. Somatic Cell Mol Genet 11: 617–624CrossRefGoogle Scholar
  30. Thompson LH, Carrano AV (1983) Analysis of mammalian cell mutagenesis and DNA repair using in vitro selected CHO cell mutants. In: Friedberg EC, Bridges BR (eds) Cellular responses to DNA damage, UCLA symposium on molecular and cellular biology, new series, vol 11. Liss, New York, pp 125–143Google Scholar
  31. Thompson LH, Busch DB, Brookman K, Mooney CL, Glaser DA (1981) Genetic diversity of UV- sensitive DNA repair mutants of Chinese hamster ovary cells. Proc Natl Acad Sci USA 78: 3734–3737PubMedCrossRefGoogle Scholar
  32. van Duin M, de Wit J, Odijk H, Westerveld A, Yasui A, Koken MHM, Hoeijmakers JHJ, Bootsma D (1986) Molecular characterization of the human excision repair gene ERCC-1: cDNA cloning and amino acid homology with the yeast DNA repair gene RADIO. Cell 44: 913–923PubMedCrossRefGoogle Scholar
  33. Westerveld A, Hoeijmakers JHJ, van Duin M, de Wet J, Odijk H, Pastink A, Wood RD, Bootsma D (1984) Molecular cloning of a human DNA repair gene. Nature 310: 425–429PubMedCrossRefGoogle Scholar
  34. Yoshida MC (1982) The absence of genetic heterogeneity in Fanconi’s anemia in five patients demonstrated by somatic cell hybridization. Cytogenet Cell Genet 32: 329–330Google Scholar
  35. Zakrzewski S, Sperling K (1980) Genetic heterogeneity of Fanconi’s anemia demonstrated by somatic cell hybrids. Hum Genet 56: 81–84PubMedGoogle Scholar
  36. Zakrzewski S, Sperling K (1982) Analysis of heterogeneity in Fanconi’s anemia patients of different ethnic origin. Hum Genet 62: 321–323PubMedCrossRefGoogle Scholar
  37. Zakrzewski S, Koch M, Sperling K (1983) Complementation studies between Fanconi’s anemia cells with different DNA repair characteristics. Hum Genet 64: 55–57PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1989

Authors and Affiliations

  • A. D. Auerbach
  • R. E. Koorse
  • R. Ghosh
  • V. S. Venkatraj
  • M. Zhang
  • N. Chiorazzi

There are no affiliations available

Personalised recommendations