Document Detail


A novel mutation at a probable heme-binding ligand in neutrophil cytochrome b558 in atypical X-linked chronic granulomatous disease.
MedLine Citation:
PMID:  9856476     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
M Tsuda; M Kaneda; T Sakiyama; I Inana; M Owada; C Kiryu; T Shiraishi; K Kakinuma
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human genetics     Volume:  103     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  1998 Oct 
Date Detail:
Created Date:  1998-12-23     Completed Date:  1998-12-23     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  377-81     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Nihon University School of Medicine, Tokyo, Japan.
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MeSH Terms
Descriptor/Qualifier:
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:
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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