A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia (original) (raw)

References

  1. Jiang, X. & Wang, X. Annu. Rev. Biochem. 73, 87–106 (2004).
    Article CAS PubMed Google Scholar
  2. Hao, Z. et al. Cell 121, 579–591 (2005).
    Article CAS PubMed Google Scholar
  3. Ekert, P.G. & Vaux, D.L. Curr. Opin. Cell Biol. 17, 626–630 (2005).
    Article CAS PubMed Google Scholar
  4. Banci, L., Bertini, I., Rosato, A. & Varani, G. J. Biol. Inorg. Chem. 4, 824–837 (1999).
    Article CAS PubMed Google Scholar
  5. De Botton, S. et al. Blood 100, 1310–1317 (2002).
    Article CAS PubMed Google Scholar
  6. Mason, K.D. et al. Cell 128, 1173–1186 (2007).
    Article CAS PubMed Google Scholar
  7. Briggs, C., Kunka, S., Hart, D., Oguni, S. & Machin, S.J. Br. J. Haematol. 126, 93–99 (2004).
    Article PubMed Google Scholar
  8. Sabri, S. et al. Blood 108, 134–140 (2006).
    Article CAS PubMed Google Scholar
  9. Cramer, E.M. et al. Blood 89, 2336–2346 (1997).
    CAS PubMed Google Scholar
  10. Cammack, R. Redox states and potentials. in Bioenergetics: A Practical Approach (eds. Brown, G.C. & Cooper, C.E.) 85–105 (IRL Press, Oxford, 1995).
    Google Scholar
  11. Finsterer, J. Eur. J. Neurol. 11, 163–186 (2004).
    Article CAS PubMed Google Scholar
  12. Olteanu, A. et al. Biochem. Biophys. Res. Commun. 312, 733–740 (2003).
    Article CAS PubMed Google Scholar
  13. Yu, T., Wang, X., Purring-Koch, C., Wei, Y. & McLendon, G.L. J. Biol. Chem. 276, 13034–13038 (2001).
    Article CAS PubMed Google Scholar
  14. Sharonov, G.V. et al. Apoptosis 10, 797–808 (2005).
    Article CAS PubMed Google Scholar
  15. Junt, T. et al. Science 317, 1767–1770 (2007).
    Article CAS PubMed Google Scholar

Download references

Acknowledgements

We acknowledge funding support from Lottery Health Research, the University of Otago, the HS & JC Anderson Charitable Trusts and from the Health Research Council of New Zealand. We thank C. Porteous, T. Kleffmann, V. Jalbert and A. Yacia for expert technical assistance, M. Murphy, M. Hampton and A. Reeve for discussions, C. Beresford for clinical assessment, G. Pielak for the cytochrome c plasmid and the affected family for their extraordinary contribution.

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Authors and Affiliations

  1. Department of Biochemistry, University of Otago, PO Box 56, Dunedin, 9054, New Zealand
    Ian M Morison, Emma J Cheesman, Pak Leng Cheong, Robert J Weeks, Alexandra Lo, Stefan M K Davies, Sigurd M Wilbanks, Robert D Fagerlund, Mathew W Ludgate, Fernanda M da Silva Tatley, Melanie S A Coker, Nicholas A Bockett, Gillian Hughes, Diana A Pippig & Elizabeth C Ledgerwood
  2. Faculté de Médecine Paris-Ilede France-Ouest, Université de Versailles Saint Quentin, France
    Elisabeth M Cramer Bordé & Claude Capron
  3. Institut Cochin, INSERM, U567, Maternité Port-Royal, 123 Bd de Port-Royal, Paris, 75014, France
    Elisabeth M Cramer Bordé, Serge Fichelson & Claude Capron
  4. Pacific Edge Biotechnology Ltd, PO Box 56, Dunedin, 9054, New Zealand
    Andrew J Holyoake
  5. Institut Cochin, Université Paris Descartes, CNRS (UMR 8104), Paris, INSERM U567, France
    Serge Fichelson
  6. Canterbury District Health Board, Private Bag 4710, Christchurch, 8140, New Zealand
    Mark P Smith

Authors

  1. Ian M Morison
  2. Elisabeth M Cramer Bordé
  3. Emma J Cheesman
  4. Pak Leng Cheong
  5. Andrew J Holyoake
  6. Serge Fichelson
  7. Robert J Weeks
  8. Alexandra Lo
  9. Stefan M K Davies
  10. Sigurd M Wilbanks
  11. Robert D Fagerlund
  12. Mathew W Ludgate
  13. Fernanda M da Silva Tatley
  14. Melanie S A Coker
  15. Nicholas A Bockett
  16. Gillian Hughes
  17. Diana A Pippig
  18. Mark P Smith
  19. Claude Capron
  20. Elizabeth C Ledgerwood

Contributions

I.M.M. and E.J.C. initiated the study, recruited and evaluated participants; A.J.H., M.W.L., F.M.d.S.T., M.S.A.C. and N.A.B. performed linkage studies, haplotype refinement and sequencing; M.P.S., E.M.C., S.F. and C.C. performed functional platelet and megakaryocyte studies and electron microscopy; P.L.C., R.J.W., E.C.L., A.L., S.M.K.D., G.H., S.M.W., R.D.F. and D.A.P. expressed the proteins and performed functional and structural studies; and I.M.M., E.C.L., E.M.C. and S.M.W. wrote the paper.

Corresponding author

Correspondence toIan M Morison.

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Competing interests

A.J.H. was a full-time employee of Pacific Edge Biotechnology Ltd., which owns the intellectual property associated with G41S cytochrome c, when performing experiments and contributing to this paper.

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Morison, I., Cramer Bordé, E., Cheesman, E. et al. A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia.Nat Genet 40, 387–389 (2008). https://doi.org/10.1038/ng.103

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