| A novel mutation at a probable heme-binding ligand in neutrophil cytochrome b558 in atypical X-linked chronic granulomatous disease. | |
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MedLine Citation:
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PMID: 9856476 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A membrane-bound cytochrome b558, a heterodimer consisting of gp91-phox and p22-phox, is a critical component of the superoxide (O2-)-generating reduced nicotinamide adenine dinucleotide phosphate (NADPH) oxidase in phagocytes. Chronic granulomatous disease (CGD) is characterized by recurrent bacterial infection caused by a defect of the oxidase. Both subunits are absent from phagocytes in typical X-linked recessive CGD patients who are primarily defective in gp91-phox. We report here an atypical case of X-linked CGD in which neutrophils showed a complete absence of O2--forming NADPH oxidase activity, but a small amount (about 10% of control) of both subunits was detected by immunoblot analysis. Spectrophotometric studies of the neutrophils with a recently developed sensitive method gave no evidence for the heme spectrum in the cytochrome b558, of this CGD. Reverse transcription/polymerase chain reaction and sequence analysis revealed a C to T transition replacing histidine at amino acid position 101 (His101) by tyrosine in gp91-phox. These results provide evidence that His101 of gp91-phox is the one of the heme-binding ligands of cytochrome b558. |
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Authors:
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M Tsuda; M Kaneda; T Sakiyama; I Inana; M Owada; C Kiryu; T Shiraishi; K Kakinuma |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Human genetics Volume: 103 ISSN: 0340-6717 ISO Abbreviation: Hum. Genet. Publication Date: 1998 Oct |
Date Detail:
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Created Date: 1998-12-23 Completed Date: 1998-12-23 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 7613873 Medline TA: Hum Genet Country: GERMANY |
Other Details:
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Languages: eng Pagination: 377-81 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Nihon University School of Medicine, Tokyo, Japan. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Cytochrome b Group / metabolism* Granulomatous Disease, Chronic / genetics* Heme / metabolism Humans Ligands Linkage (Genetics) Male Membrane Glycoproteins / genetics* Membrane Transport Proteins* Mutation* NADPH Dehydrogenase / metabolism NADPH Oxidase* Neutrophils / metabolism Phosphoproteins / metabolism X Chromosome |
| Chemical | |
Reg. No./Substance:
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0/CYBB protein, human; 0/Cytochrome b Group; 0/Ligands; 0/Membrane Glycoproteins; 0/Membrane Transport Proteins; 0/Phosphoproteins; 14875-96-8/Heme; 9064-78-2/cytochrome b558; EC 1.6.3.1/CYBA protein, human; EC 1.6.3.1/NADPH Oxidase; EC 1.6.99.1/NADPH Dehydrogenase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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