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Brief Communication

Nature Genetics 40, 387–389 (1 April 2008) | doi:10.1038/ng.103

A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia

Ian M Morison , Elisabeth M Cramer Bord|[eacute]| , Emma J Cheesman , Pak Leng Cheong , Andrew J Holyoake , Serge Fichelson , 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 , Mark P Smith , Claude Capron & Elizabeth C Ledgerwood

We report the first identified mutation in the gene encoding human cytochrome c (CYCS). Glycine 41, invariant throughout eukaryotes, is substituted by serine in a family with autosomal dominant thrombocytopenia caused by dysregulated platelet formation.