- A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia.
A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia.
Nature genetics (2008-03-18)
Ian M Morison, Elisabeth M Cramer Bordé, 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
PMID18345000
ABSTRACT
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. The mutation yields a cytochrome c variant with enhanced apoptotic activity in vitro. Notably, the family has no other phenotypic indication of abnormal apoptosis, implying that cytochrome c activity is not a critical regulator of most physiological apoptosis.
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