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- Title
A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia.
- Authors
Morison, Ian M.; Bordé, Elisabeth M. Cramer; Cheesman, Emma J.; Pak Leng Cheong; Holyoake, Andrew J.; Fichelson, Serge; Weeks, Robert J.; Lo, Alexandra; Davies, Stefan M. K.; Wilbanks, Sigurd M.; Fagerlund, Robert D.; Ludgate, Mathew W.; da Silva Tatley, Fernanda M.; Coker, Melanie S. A.; Bockett, Nicholas A.; Hughes, Gillian; Pippig, Diana A.; Smith, Mark P.; Capron, Claude; Ledgerwood, Elizabeth C.
- 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.
- Subjects
GENETIC mutation; CYTOCHROME c; GLYCINE; APOPTOSIS; THROMBOCYTOPENIA; BLOOD platelet disorders
- Publication
Nature Genetics, 2008, Vol 40, Issue 4, p387
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/ng.103