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Nat Genet. 2008 Apr;40(4):387-9. doi: 10.1038/ng.103. Epub 2008 Mar 16.

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

Author information

1
Department of Biochemistry, University of Otago, PO Box 56, Dunedin 9054, New Zealand. ian.morison@otago.ac.nz

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.

PMID:
18345000
DOI:
10.1038/ng.103
[Indexed for MEDLINE]

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