人类细胞色素c的一种突变增强了内源性凋亡途径，但仅导致血小板减少症。
A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia.
作者信息
Morison Ian M, Cramer Bordé Elisabeth M, Cheesman Emma J, Cheong Pak Leng, 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
机构信息
Department of Biochemistry, University of Otago, PO Box 56, Dunedin 9054, New Zealand.
出版信息
Nat Genet. 2008 Apr;40(4):387-9. doi: 10.1038/ng.103. Epub 2008 Mar 16.
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.
我们报告了人类细胞色素c（CYCS）编码基因中首次发现的突变。在一个因血小板生成失调导致常染色体显性血小板减少症的家族中，在整个真核生物中都不变的甘氨酸41被丝氨酸取代。该突变产生了一种在体外具有增强凋亡活性的细胞色素c变体。值得注意的是，该家族没有其他异常凋亡的表型迹象，这意味着细胞色素c活性并非大多数生理性凋亡的关键调节因子。
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