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A p47-phox pseudogene carries the most common mutation causing p47-phox-deficient chronic granulomatous disease

Academic Article
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Overview

authors

  • Gorlach, A.
  • Lee, Pauline
  • Roesler, J.
  • Hopkins, P. J.
  • Christensen, B.
  • Green, E. D.
  • Chanock, S. J.
  • Curnutte, J. T.

publication date

  • October 1997

journal

  • Journal of Clinical Investigation  Journal

abstract

  • The predominant genetic defect causing p47-phox-deficient chronic granulomatous disease (A47 degrees CGD) is a GT deletion (DeltaGT) at the beginning of exon 2. No explanation exists to account for the high incidence of this single mutation causing a rare disease in an unrelated, racially diverse population. In each of 34 consecutive unrelated normal individuals, both the normal and mutant DeltaGT sequences were present in genomic DNA, suggesting that a p47-phox related sequence carrying DeltaGT exists in the normal population. Screening of genomic bacteriophage and YAC libraries identified 13 p47-phox bacteriophage and 19 YAC clones. The GT deletion was found in 11 bacteriophage and 15 YAC clones. Only 5 exonic and 33 intronic differences distinguished all DeltaGT clones from all wild-type clones. The most striking differences were a 30-bp deletion in intron 1 and a 20-bp duplication in intron 2. These results provide good evidence for the existence of at least one highly homologous p47-phox pseudogene containing the DeltaGT mutation. The p47-phox gene and pseudogene(s) colocalize to chromosome 7q11.23. This close linkage, together with the presence within each gene of multiple recombination hot spots, suggests that the predominance of the DeltaGT mutation in A47 degrees CGD is caused by recombination events between the wild-type gene and the pseudogene(s).

subject areas

  • Bacteriophages
  • Chromosome Mapping
  • Chromosomes, Artificial, Yeast
  • Chromosomes, Human, Pair 7
  • Exons
  • Gene Dosage
  • Genetic Variation
  • Genomic Library
  • Granulomatous Disease, Chronic
  • Humans
  • Introns
  • Mutation
  • NADPH Dehydrogenase
  • NADPH Oxidase
  • Neutrophils
  • Phosphoproteins
  • Polymerase Chain Reaction
  • Pseudogenes
  • Recombination, Genetic
  • Repetitive Sequences, Nucleic Acid
  • Sequence Analysis, DNA
  • Sequence Deletion
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Research

keywords

  • NADPH oxidase
  • gene conversion
  • human chromosome 7
  • neutrophils
  • respiratory burst
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Identity

International Standard Serial Number (ISSN)

  • 0021-9738

Digital Object Identifier (DOI)

  • 10.1172/jci119721

PubMed ID

  • 9329953
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Additional Document Info

start page

  • 1907

end page

  • 1918

volume

  • 100

issue

  • 8

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