References
Jiang, X. & Wang, X. Annu. Rev. Biochem. 73, 87–106 (2004).
Hao, Z. et al. Cell 121, 579–591 (2005).
Ekert, P.G. & Vaux, D.L. Curr. Opin. Cell Biol. 17, 626–630 (2005).
Banci, L., Bertini, I., Rosato, A. & Varani, G. J. Biol. Inorg. Chem. 4, 824–837 (1999).
De Botton, S. et al. Blood 100, 1310–1317 (2002).
Mason, K.D. et al. Cell 128, 1173–1186 (2007).
Briggs, C., Kunka, S., Hart, D., Oguni, S. & Machin, S.J. Br. J. Haematol. 126, 93–99 (2004).
Sabri, S. et al. Blood 108, 134–140 (2006).
Cramer, E.M. et al. Blood 89, 2336–2346 (1997).
CAS PubMed Google Scholar
Cammack, R. Redox states and potentials. in Bioenergetics: A Practical Approach (eds. Brown, G.C. & Cooper, C.E.) 85–105 (IRL Press, Oxford, 1995).
Finsterer, J. Eur. J. Neurol. 11, 163–186 (2004).
Olteanu, A. et al. Biochem. Biophys. Res. Commun. 312, 733–740 (2003).
Yu, T., Wang, X., Purring-Koch, C., Wei, Y. & McLendon, G.L. J. Biol. Chem. 276, 13034–13038 (2001).
Sharonov, G.V. et al. Apoptosis 10, 797–808 (2005).
Junt, T. et al. Science 317, 1767–1770 (2007).
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.
Author information
Authors and Affiliations
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 fa*gerlund,Mathew W Ludgate,Fernanda M da Silva Tatley,Melanie S A co*ker,Nicholas A Bockett,Gillian Hughes,Diana A Pippig&Elizabeth C Ledgerwood
Faculté de Médecine Paris-Ilede France-Ouest, Université de Versailles Saint Quentin, France
Elisabeth M Cramer Bordé&Claude Capron
Institut Cochin, INSERM, U567, Maternité Port-Royal, 123 Bd de Port-Royal, Paris, 75014, France
Elisabeth M Cramer Bordé,Serge Fichelson&Claude Capron
Pacific Edge Biotechnology Ltd, PO Box 56, Dunedin, 9054, New Zealand
Andrew J Holyoake
Institut Cochin, Université Paris Descartes, CNRS (UMR 8104), Paris, INSERM U567, France
Serge Fichelson
Canterbury District Health Board, Private Bag 4710, Christchurch, 8140, New Zealand
Mark P Smith
Authors
- Ian M Morison
View author publications
You can also search for this author in PubMedGoogle Scholar
- Elisabeth M Cramer Bordé
View author publications
You can also search for this author in PubMedGoogle Scholar
- Emma J Cheesman
View author publications
You can also search for this author in PubMedGoogle Scholar
- Pak Leng Cheong
View author publications
You can also search for this author in PubMedGoogle Scholar
- Andrew J Holyoake
View author publications
You can also search for this author in PubMedGoogle Scholar
- Serge Fichelson
View author publications
You can also search for this author in PubMedGoogle Scholar
- Robert J Weeks
View author publications
You can also search for this author in PubMedGoogle Scholar
- Alexandra Lo
View author publications
You can also search for this author in PubMedGoogle Scholar
- Stefan M K Davies
View author publications
You can also search for this author in PubMedGoogle Scholar
- Sigurd M Wilbanks
View author publications
You can also search for this author in PubMedGoogle Scholar
- Robert D fa*gerlund
View author publications
You can also search for this author in PubMedGoogle Scholar
- Mathew W Ludgate
View author publications
You can also search for this author in PubMedGoogle Scholar
- Fernanda M da Silva Tatley
View author publications
You can also search for this author in PubMedGoogle Scholar
- Melanie S A co*ker
View author publications
You can also search for this author in PubMedGoogle Scholar
- Nicholas A Bockett
View author publications
You can also search for this author in PubMedGoogle Scholar
- Gillian Hughes
View author publications
You can also search for this author in PubMedGoogle Scholar
- Diana A Pippig
View author publications
You can also search for this author in PubMedGoogle Scholar
- Mark P Smith
View author publications
You can also search for this author in PubMedGoogle Scholar
- Claude Capron
View author publications
You can also search for this author in PubMedGoogle Scholar
- Elizabeth C Ledgerwood
View author publications
You can also search for this author in PubMedGoogle Scholar
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 to Ian M Morison.
Ethics declarations
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.
Supplementary information
Supplementary Text and Figures
Supplementary Methods, Supplementary Figures 1–4, Supplementary Tables 1 and 2 (PDF 2718 kb)
Rights and permissions
About this article
Cite this article
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
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1038/ng.103
