The X-linked chronic granulomatous disease gene codes for the beta-chain of cytochrome b-245.

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 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.

• Authors: C Teahan, P Rowe, P Parker, N Totty, A W Segal
• Journal: Nature (Nature) 1987 Jun 25-Jul 1 Vol. 327 Issue 6124 Pg. 720-1 ISSN: 0028-0836 [Print] England
• PMID: 3600769 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Codon
• Cytochrome b Group
• cytochrome b245

Topics

• Amino Acid Sequence
• Base Sequence
• Codon
• Cytochrome b Group (genetics)
• Granulomatous Disease, Chronic (genetics)
• Humans
• Molecular Weight
• Protein Biosynthesis
• Sequence Homology, Nucleic Acid
• X Chromosome