Detection of gp91-phox precursor protein in B-cell lines from patients with X-linked chronic granulomatous disease as an indicator for mutations impairing cytochrome b558 biosynthesis

Biochem J. 1996 Apr 15;315 ( Pt 2)(Pt 2):571-5. doi: 10.1042/bj3150571.

Abstract

NADPH oxidase cytochrome b558 consists of two subunits, gp91-phox and p22-phox, defects of which result in chronic granulomatous disease (CGD). The nature of the interaction between these subunits has yet to be determined. Absence of p22-phox in autosomal CGD patient-derived B-cell lines results in detectable levels of an incompletely glycosylated gp91-phox precursor. We have detected this same precursor species in four cell lines from patients with the X-linked form of the disease due to mutations in gp91-phox. Such mutations should delineate regions of gp91-phox important for its biosynthesis, including stable association with p22-phox. One mutation mapped to the putative FAD-binding domain, one mapped to a potential haem-binding domain, and two involved the region encoded by exon 3.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • B-Lymphocytes / metabolism
  • Binding Sites / genetics
  • Cell Line
  • Cytochrome b Group / biosynthesis*
  • Cytochrome b Group / chemistry
  • Cytochrome b Group / genetics*
  • Genetic Linkage
  • Granulomatous Disease, Chronic / genetics*
  • Granulomatous Disease, Chronic / metabolism*
  • Heme / metabolism
  • Humans
  • Membrane Glycoproteins / chemistry
  • Membrane Glycoproteins / genetics*
  • Membrane Glycoproteins / metabolism*
  • Membrane Transport Proteins*
  • Molecular Sequence Data
  • Molecular Structure
  • Mutation*
  • NADPH Dehydrogenase / chemistry
  • NADPH Dehydrogenase / genetics
  • NADPH Dehydrogenase / metabolism
  • NADPH Oxidase 2
  • NADPH Oxidases*
  • Phosphoproteins / chemistry
  • Phosphoproteins / genetics
  • Phosphoproteins / metabolism
  • Protein Conformation
  • Protein Precursors / chemistry
  • Protein Precursors / genetics*
  • Protein Precursors / metabolism*
  • Sequence Homology, Amino Acid
  • X Chromosome

Substances

  • Cytochrome b Group
  • Membrane Glycoproteins
  • Membrane Transport Proteins
  • Phosphoproteins
  • Protein Precursors
  • Heme
  • cytochrome b558
  • CYBB protein, human
  • NADPH Oxidase 2
  • NADPH Oxidases
  • CYBA protein, human
  • NADPH Dehydrogenase