Abstract
Fanconi anaemia (FA) is a DNA repair disorder characterized by cellular hypersensitivity to DNA cross–linking agents and extensive phenotypic heterogeneity. To determine the extent of genetic heterogeneity present in FA, a panel of somatic cell hybrids was constructed using polyethylene glycol–mediated cell fusion. Three new complementation groups were identified, designated FA(B), FA(C) and FA(D), and the gene defective in FA(C) which we have recently cloned was localized to chromosome 9q22.3 through in situ hybridization. These results suggest that mutations in at least four different genes lead to FA, a degree of genetic heterogeneity comparable to that of other DNA repair disorders.
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 12 print issues and online access
$209.00 per year
only $17.42 per issue
Rent or buy this article
Prices vary by article type
from$1.95
to$39.95
Prices may be subject to local taxes which are calculated during checkout
Similar content being viewed by others
References
Fanconi, G. Semin. Hematol. 4, 233–240 (1967).
Schroeder, T.M., Tilgen, D., Kruger, J. & Vogel, F. Hum. Genet. 32, 257–288 (1976).
Setlow, R.B. Nature 271, 713–717 (1978).
Glanz, A. & Fraser, F.C. J. Med. Genet. 19, 412–416 (1982).
Schroeder, T.M., Anschutz, F. & Knopp, A. Hum. Genet. 1, 194–196 (1964).
Sasaki, M.S. & Tonomura, A. Cancer Res. 33, 1829–1836 (1973).
Auerbach, A.D., Rogatko, A. & Schroeder-Kurth, T.M. Blood. 73, 391–396 (1989).
Weksberg, R., Buchwald, M., Sargent, P., Thompson, M.W. & Siminovitch, L. J. Cell Physiol. 101, 311–324 (1979).
Ishida, R. & Buchwald, M. Cancer Res. 42, 4000–4006 (1982).
Zakrzewski, S. & Sperling, K. Hum. Genet. 62, 321–323 (1982).
Zakrzewski, S., Koch, M. and Sperling, K. Hum. Genet. 64, 55–57 (1983).
Duckworth-Rysiecki, G., Cornish, K., Clarke, C. & Buchwald, M. Somatic Cell molec. Genet. 11, 35–41 (1985).
Buchwald, M., Clarke, C., Ng, J., Duckworth-Rysiecki, G. & Weksberg, R. in Fanconi Anaemia: Clinical, cytogenetic, and experimental aspects. (eds Schroeder-Kurth et al.) 226–235 (Springer-Verlag, Berlin, 1989).
Southern, P.J. and Berg, P. J. Mol. Appl. Genet. 1, 327–341 (1982).
Santerre, N.F., Allen, N.E., Hobbs, J.N., Rao, R.N. & Schmidt, R.J. Gene 30, 147–156 (1984).
Papadopoulo, D., Guillouf, C., Mohnrenweiser, H. & Moustacchi, E. Proc. natn. Acad. Sci. U.S.A. 87, 8383–8387 (1990).
Strathdee, C.A., Gavish, H., Shannon, W.R. & Buchwald, M. Nature (in the press).
Mann, W.R. et al. Genomics 9, 329–337 (1991).
Tsui, L.-C. and Estevill, X. in Genes and Phenotypes (eds Davies, K.E & Tilghman S.M.) 1–36 (Cold Spring Harbor Laboratory Press, New York, 1991).
Tanaka, K. et al. Nature 348, 73–76 (1990).
Gordon-Smith, E.C. & Rutherford, T.R. Semin. Hematol. 28, 104–112 (1991).
Strathdee, C.A. & Buchwald, M. Am. J. Pediat. Hematol./Oncol. (in the press).
Vermeulen, W., Stefanini, M, Giliani, S., Hoeijmakers, J.H.J. & Bootsma, D. Mutation Res. 255, 201–208 (1991).
Jaspers, N.G.J., Gatti, R.A., Baan, C., Linssen, P.C.M.L. & Bootsma, D. Cytogenet. Cell Genet. 49, 259–263 (1988).
Nakamura, Y. et al. Science 235, 1616–1622 (1987).
Leeder, J.S., Dosch, H.-M., Harper, P.A., Lam, P. & Spielberg, S.P. Anal. Biochem. 177, 364–372 (1989).
Harper, M.E. & Saunders, G.F. Chromosoma 83, 431–439 (1981).
Lin, C.C., Draper, P.N. & Braekeleer, M. Cytogenet. Cell Genet. 39, 269–274 (1985).
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Strathdee, C., Duncan, A. & Buchwald, M. Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9. Nat Genet 1, 196–198 (1992). https://doi.org/10.1038/ng0692-196
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1038/ng0692-196
This article is cited by
-
Coregulation of FANCA and BRCA1 in human cells
SpringerPlus (2014)
-
The structure of the catalytic subunit FANCL of the Fanconi anemia core complex
Nature Structural & Molecular Biology (2010)
-
Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins
Nature Reviews Genetics (2007)
-
High-input biology
Nature Genetics (2005)