Abstract
Chronic 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 patients1. 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 patients2,3. This cytochrome is a heterodimer composed of an α-chain of relative molecular mass (Mr) 23,000 (23K) and a 76–92K β-chain; neither are detectable in neutrophils from X-linked CGD subjects. The defective X-CGD gene has recently been cloned4 by 'reverse genetics'5 but the protein predicted from the proposed complementary DNA sequence was not identified. We have purified the β-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.
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Teahan, C., Rowe, P., Parker, P. et al. The X-linked chronic granulomatous disease gene codes for the β-chain of cytochrome b−245. Nature 327, 720–721 (1987). https://doi.org/10.1038/327720a0
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DOI: https://doi.org/10.1038/327720a0
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