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

被引：138

作者：

Morison, Ian M. ^{[1
]}

Cramer Borde, Elisabeth M. ^{[2
,3
]}

Cheesman, Emma J. ^{[1
]}

Cheong, Pak Leng ^{[1
]}

Holyoake, Andrew J. ^{[4
]}

Fichelson, Serge ^{[3
,5
]}

Weeks, Robert J. ^{[1
]}

Lo, Alexandra ^{[1
]}

Davies, Stefan M. K. ^{[1
]}

Wilbanks, Sigurd M. ^{[1
]}

Fagerlund, Robert D. ^{[1
]}

Ludgate, Mathew W. ^{[1
]}

Tatley, Fernanda M. da Silva ^{[1
]}

Coker, Melanie S. A. ^{[1
]}

Bockett, Nicholas A. ^{[1
]}

Hughes, Gillian ^{[1
]}

Pippig, Diana A. ^{[1
]}

Smith, Mark P. ^{[6
]}

Capron, Claude ^{[2
,3
]}

Ledgerwood, Elizabeth C. ^{[1
]}

机构：

[1] Univ Otago, Dept Biochem, Dunedin 9054, New Zealand

[2] Univ Versailles, Fac Med Paris Ilede France Ouest, St Quentin en Yvelines, France

[3] INSERM, Inst Cochin, U567, F-75014 Paris, France

[4] Pacific Edge Biotechnol Ltd, Dunedin 9054, New Zealand

[5] Univ Paris 05, Inst Cochin, CNRS, UMR 8104,INSERM U567, Paris, France

[6] Caanterbury District Hlth Board, Christchurch 8140, New Zealand

来源：

NATURE GENETICS | 2008年 / 40卷 / 04期

关键词：

D O I：

10.1038/ng.103

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：387 / 389

页数：3

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