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

Agnes Görlach, Pauline L. Lee, Joachim Roesler, Penelope J. Hopkins, Barbara Christensen, Eric D. Green, Stephen J. Chanock, John T. Curnutte

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The predominant genetic defect causing p47-phox-deficient chronic granulomatous disease (A47°CGD) is a GT deletion (ΔGT) 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 ΔGT sequences were present in genomic DNA, suggesting that a p47-phox related sequence carrying ΔGT 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 ΔGT 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 ΔGT 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 ΔGT mutation in A47°CGD is caused by recombination events between the wild-type gene and the pseudogene(s).

Original languageEnglish
Pages (from-to)1907-1918
Number of pages12
JournalJournal of Clinical Investigation
Issue number8
StatePublished - 15 Oct 1997
Externally publishedYes


  • Gene conversion
  • Human chromosome 7
  • NADPH oxidase
  • Neutrophils
  • Respiratory burst


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