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

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 wit...

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Published inNature genetics Vol. 40; no. 4; pp. 387 - 389
Main Authors da Silva Tatley, Fernanda M, Weeks, Robert J, Wilbanks, Sigurd M, Fagerlund, Robert D, Smith, Mark P, Davies, Stefan M K, Capron, Claude, Ledgerwood, Elizabeth C, Fichelson, Serge, Holyoake, Andrew J, Pippig, Diana A, Morison, Ian M, Cheesman, Emma J, Ludgate, Mathew W, Coker, Melanie S A, Bockett, Nicholas A, Cheong, Pak Leng, Hughes, Gillian, Lo, Alexandra, Cramer Bordé, Elisabeth M
Format Journal Article
LanguageEnglish
Published New York Nature Publishing Group US 01.04.2008
Nature Publishing Group
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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.
AbstractList 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. [PUBLICATION 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.
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.
Audience Academic
Author Capron, Claude
Davies, Stefan M K
Ledgerwood, Elizabeth C
Ludgate, Mathew W
Fagerlund, Robert D
Hughes, Gillian
Bockett, Nicholas A
Cheong, Pak Leng
Fichelson, Serge
da Silva Tatley, Fernanda M
Morison, Ian M
Cramer Bordé, Elisabeth M
Pippig, Diana A
Cheesman, Emma J
Holyoake, Andrew J
Wilbanks, Sigurd M
Coker, Melanie S A
Smith, Mark P
Lo, Alexandra
Weeks, Robert J
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  surname: da Silva Tatley
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  organization: Department of Biochemistry, University of Otago, PO Box 56
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  organization: Department of Biochemistry, University of Otago, PO Box 56
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  fullname: Ludgate, Mathew W
  organization: Department of Biochemistry, University of Otago, PO Box 56
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  organization: Department of Biochemistry, University of Otago, PO Box 56
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  organization: Faculté de Médecine Paris-Ilede France-Ouest, Université de Versailles Saint Quentin Institut Cochin, INSERM, U567, Maternité Port-Royal
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IsPeerReviewed true
IsScholarly true
Issue 4
Keywords Cytochrome c
Human
Thrombocytopenia
Platelet
Hemopathy
Mutation
Apoptosis
Language English
License CC BY 4.0
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Snippet We report the first identified mutation in the gene encoding human cytochrome c (CYCS). Glycine 41, invariant throughout eukaryotes, is substituted by serine...
We report the first identified mutation in the gene encoding human cytochrome c ( CYCS ). Glycine 41, invariant throughout eukaryotes, is substituted by serine...
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SubjectTerms Ageing, cell death
Agriculture
Animal Genetics and Genomics
Apoptosis
Apoptosis - physiology
Apoptotic Protease-Activating Factor 1 - metabolism
Biochemistry
Biological and medical sciences
Biomedical and Life Sciences
Biomedicine
brief-communication
Cancer Research
Cell physiology
Complications and side effects
Cytochrome
Cytochromes
Cytochromes c - genetics
Female
Fundamental and applied biological sciences. Psychology
Gene Function
Gene mutations
Genetic aspects
Genetic Linkage
Genetics
Genetics of eukaryotes. Biological and molecular evolution
Genotype & phenotype
Hematologic and hematopoietic diseases
Human Genetics
Humans
Male
Medical sciences
Megakaryocytes - metabolism
Megakaryocytes - pathology
Molecular and cellular biology
Mutation
Mutation - genetics
Oxidation-Reduction
Pedigree
Physiological aspects
Physiology
Platelet Count
Platelet diseases and coagulopathies
Risk factors
Serine - chemistry
Serine - genetics
Signal Transduction
Thrombocytopenia
Thrombocytopenia - etiology
Thrombocytopenia - pathology
Title A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia
URI http://dx.doi.org/10.1038/ng.103
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