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

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.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Morison IM,Cramer Bordé EM,Cheesman EJ,Cheong PL,Holyoake AJ,Fichelson S,Weeks RJ,Lo A,Davies SM,Wilbanks SM,Fagerlund RD,Ludgate MW,da Silva Tatley FM,Coker MS,Bockett NA,Hughes G,Pippig DA,Smith MP,Capron C,Ledger

doi

10.1038/ng.103

subject

Has Abstract

pub_date

2008-04-01 00:00:00

pages

387-9

issue

4

eissn

1061-4036

issn

1546-1718

pii

ng.103

journal_volume

40

pub_type

杂志文章

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