Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Article
  • Published:

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.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Similar content being viewed by others

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
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Hanna Gavish
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. William R. Shannon
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Manuel Buchwald
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

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

Download citation

  • Received:

  • Accepted:

  • Issue Date:

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

This article is cited by

Comments

By submitting a comment you agree to abide by our Terms and Community Guidelines. If you find something abusive or that does not comply with our terms or guidelines please flag it as inappropriate.

Search

Advanced search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing