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
Department of Biochemistry, University of Otago, PO Box 56, Dunedin 9054, New Zealand.
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。
