| Literature DB >> 18345000 |
Ian M Morison1, 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.
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.Entities:
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Year: 2008 PMID： 18345000 DOI： 10.1038/ng.103
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330