Ontology type: schema:ScholarlyArticle
1987-06
AUTHORSCarmel Teahan, Peter Rowe, Peter Parker, Nick Totty, Anthony W. Segal
ABSTRACTChronic granulomatous disease (CGD) is a rare inherited disorder associated with a profound predisposition to infection due to the lack of a microbicidal oxidase system in the phagocytes of these patients. This syndrome is most commonly inherited through a defect on the X chromosome and the only clearly defined component of the oxidase system, the very unusual cytochrome b (b-245), has been shown to be missing from the cells of these patients. This cytochrome is a heterodimer composed of an alpha-chain of relative molecular mass (Mr) 23,000 (23K) and a 76-92K beta-chain; neither are detectable in neutrophils from X-linked CGD subjects. The defective X-CGD gene has recently been cloned by 'reverse genetics' but the protein predicted from the proposed complementary DNA sequence was not identified. We have purified the beta-chain of the cytochrome and sequenced 43 amino acids from the N terminus. Almost complete homology was obtained between this sequence and that of the complementary nucleotides 19-147 of the sequence of the X-CGD gene, originally designated as a non-coding region. More... »
PAGES720-721
http://scigraph.springernature.com/pub.10.1038/327720a0
DOIhttp://dx.doi.org/10.1038/327720a0
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PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/3600769
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