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Cloning of cDNAs for Fanconi's anaemia by functional complementation

Nature volume 356, pages 763–767 (1992)Cite this article

A Correction to this article was published on 30 July 1992

Abstract

Fanconi's anaemia is a rare autosomal recessive disorder characterized by progressive pan-cytopaenia and a cellular hypersensitivity to DNA crosslinking agents. Four genetic complementation groups have been identified so far, and here we use a functional complementation method to clone complementary DNAs that correct the defect of group C cells. The cDNAs encode alternatively processed transcripts of a new gene, designated FACC, which is mutated in group C patients. The predicted FACC polypeptide does not contain any motifs common to other proteins and so represents a new gene involved in the cellular response to DNA damage.

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References

  1. Setlow, R. B. Nature 271, 713–717 (1978).

    Article  ADS  CAS  Google Scholar 

  2. Schroeder, T. M., Tilgen, D., Kruger, J. & Vogel, F. Hum. Genet. 32, 257–288 (1976).

    Article  CAS  Google Scholar 

  3. Fanconi, G. Semin. Hematol. 4, 233–240 (1967).

    CAS  PubMed  Google Scholar 

  4. Althoff, M. Z. Kinderheil. 72, 267–292 (1953).

    Article  CAS  Google Scholar 

  5. Schroeder, T. M., Anschutz, F. & Knopp, A. Hum. Genet. 1, 194–196 (1964).

    Article  CAS  Google Scholar 

  6. Sasaki, M. S. & Tonomura, A. Cancer Res. 33, 1829–1836 (1973).

    CAS  Google Scholar 

  7. Auerbach, A. D., Rogatko, A. & Schroeder-Kurth, T. M. Blood 73, 391–396 (1989).

    CAS  PubMed  Google Scholar 

  8. Fujiwara, Y., Tatsumi, M. & Sasaki, M. S. J. molec. Biol. 113, 635–649 (1977).

    Article  CAS  Google Scholar 

  9. Joenje, H. & Gille, J. J. P. in Fanconi Anaemia: Clinical, Cytogenetic and Experimental Aspects (eds Schroeder-Kurth, T. M., Auerbach, A. D. & Obe, G.) 174–182 (Springer, Berlin, 1989).

    Book  Google Scholar 

  10. Duckworth-Rysiecki, G., Cornish, K., Clarke, C. & Buchwald, M. Somatic Cell molec. Genet. 11, 35–41 (1985).

    Article  CAS  Google Scholar 

  11. Groger, R. L., Morrow, D. M. & Tykocinski, M. L. Gene 81, 285–294 (1989).

    Article  CAS  Google Scholar 

  12. Yates, J. L., Warren, N. & Sugden, B. Nature 313, 812–815 (1985).

    Article  ADS  CAS  Google Scholar 

  13. Margolskee, R. F., Kavatas, P. & Berg, P. Molec. Cell. Biol. 8, 2837–2847 (1988).

    Article  CAS  Google Scholar 

  14. Buchwald, M., Clarke, C., Ng, J., Duckworth-Rysiecki, G. & Weksberg, R. in Fanconi Anaemia: Clinical, Cytogenetic and Experimental Aspects (eds Schroeder-Kurth, T. M., Auerbach, A. D. & Obe, G.) 226–235 (Springer, Berlin, 1989).

    Book  Google Scholar 

  15. Belt, P. B. G. M., Groenevelt, H., Teubel, W. J., van de Putte, P. & Backendorf, C. Gene 84, 407–417 (1989).

    Article  CAS  Google Scholar 

  16. Kozak, M. Nucleic Acids Res. 15, 8125–8148 (1987).

    Article  CAS  Google Scholar 

  17. Shapiro, M. B. & Senapathy, P. Nucleic Acids Res. 15, 7155–7174 (1986).

    Article  Google Scholar 

  18. Proudfoot, N. Cell 64, 671–674 (1991).

    Article  CAS  Google Scholar 

  19. Klein, P., Kanehisa, M. & DeLisi, C. Biochim. biophys. Acta 815, 468–476 (1985).

    Article  CAS  Google Scholar 

  20. Eisenberg, D. A. Rev. Biochem. 53, 595–623 (1984).

    Article  CAS  Google Scholar 

  21. Veres, G., Gibbs, R. A. & Caskey, T. Science 237, 415–417 (1987).

    Article  ADS  CAS  Google Scholar 

  22. Thompson, L. H. Mutation Res. 247, 213–219 (1991).

    Article  CAS  Google Scholar 

  23. Gluckman, E., Berger, R. & Dutreix, J. Semin. Hematol. 21, 20–26 (1984).

    CAS  PubMed  Google Scholar 

  24. Gluckman, E., Devergie, A. & Dutreix, A. in Fanconi Anaemia: Clinical Cytogenetic and Experimental Aspects (eds Schroeder Kurth, T. M., Auerbach, A. D. & Obe, G.) 60–68 (Springer, Berlin, 1989).

    Book  Google Scholar 

  25. Anderson, W. F. Human Gene Therapy 2, 193–194 (1991).

    Article  CAS  Google Scholar 

  26. Colbere-Garapin, F., Ryhiner, M.-L., Stephany, I., Kourilsky, P. & Garapin, A.-C. Gene 50, 279–288 (1986).

    Article  CAS  Google Scholar 

  27. Southern, P. J. & Berg, P. J. molec. appl. Genet 1, 327–341 (1982).

    CAS  Google Scholar 

  28. Szybalski, W. & Iyer, V. N. in Antibiotics: Mechanisms of Action Vol. 1 (ed. Gottlieb, D. & Shaw P. D.) 211–245 (Springer, New York, 1967).

    Google Scholar 

  29. Van Duuren, B. L. Ann. N.Y. Acad. Sci. 163, 633–651 (1969).

    Article  ADS  CAS  Google Scholar 

  30. Leeder, J. S., Dosch, H.-M., Harper, P. A., Lam, P. & Spielberg S. P. Analyt. Biochem. 177, 364–372 (1989).

    Article  CAS  Google Scholar 

  31. Bradley, J. E., Bishop, G. A., St John, T. & Frelinger, J. A. BioTechniques 6, 114–116 (1988).

    Google Scholar 

  32. Sambrook, J., Fritsch, E. F. & Maniatis, T. Molecular Cloning: a Laboratory Manual 2nd edn (Cold Spring Harbor Laboratory, New York, 1989).

    Google Scholar 

  33. Kriegler, M. Gene Transfer and Expression 131–132 (Stockton, New York, 1990).

    Book  Google Scholar 

  34. McCabe, P. in PCR Protocols (Innis, M. A., Gelfand. D. H., Sninsky, J. J. & White, T. J.) 76–83 (Academic, New York, 1990).

    Google Scholar 

  35. Strathdee, C. A., Duncan, A. M. V. & Buchwald, M. Nature Genet. (in the press).

Download references

Author information

Author notes

  1. Craig A. Strathdee

    Present address: National Laboratory for Special Pathogens, Bureau of Microbiology, Laboratory Centre for Disease Control, Ottawa, Ontario, K1A OL2, Canada

  2. Manuel Buchwald: To whom correspondence should be addressed.

Authors and Affiliations

  1. Department of Genetics, Research Institute, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, M5G1X8

    Craig A. Strathdee, Hanna Gavish, William R. Shannon & Manuel Buchwald

  2. Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario, M5S1A8, Canada

    Craig A. Strathdee, Hanna Gavish, William R. Shannon & Manuel Buchwald

Authors
  1. Craig A. Strathdee
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  2. Hanna Gavish
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  3. William R. Shannon
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  4. Manuel Buchwald
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Strathdee, C., Gavish, H., Shannon, W. et al. Cloning of cDNAs for Fanconi's anaemia by functional complementation. Nature 356, 763–767 (1992). https://doi.org/10.1038/356763a0

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  • DOI: https://doi.org/10.1038/356763a0

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