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Am J Hum Genet. Sep 1990; 47(3): 483–492.
PMCID: PMC1683885

Genes for two autosomal recessive forms of chronic granulomatous disease assigned to 1q25 (NCF2) and 7q11.23 (NCF1).

Abstract

Chronic granulomatous disease (CGD) is a heterogeneous group of inherited disorders of impaired superoxide production in phagocytes. The most common X-linked recessive form involves the CYBB locus in band Xp21.1 that encodes the membrane-bound beta subunit of the cytochrome b558 complex. Two autosomal recessive forms of CGD result from defects in cytosolic components of the phagocyte NADPH oxidase system, p47phox (NCF1) and p67phox (NCF2). By using human cDNA probes we have mapped the genes for these proteins to chromosomal sites. The combined data from Southern analysis of somatic cell hybrid lines and chromosomal in situ hybridization localize NCF1 to 7q11.23 and NCF2 to band 1q25. The NCF1 localization corrects an erroneous preliminary assignment to chromosome 10. In the mouse, the locus corresponding to NCF2 (Ncf-2) was mapped with somatic cell hybrid panels and recombinant inbred strains to mouse chromosome 1 near Xmv-21 within a region of conserved homology with human chromosome 1 region q21-q32. A second site, probably a processed pseudogene, was identified on mouse chromosome 13.

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  • Battat L, Francke U. Nsi I RFLP at the X-linked chronic granulomatous disease locus (CYBB). Nucleic Acids Res. 1989 May 11;17(9):3619–3619. [PMC free article] [PubMed]
  • Bolscher BG, van Zwieten R, Kramer IM, Weening RS, Verhoeven AJ, Roos D. A phosphoprotein of Mr 47,000, defective in autosomal chronic granulomatous disease, copurifies with one of two soluble components required for NADPH:O2 oxidoreductase activity in human neutrophils. J Clin Invest. 1989 Mar;83(3):757–763. [PMC free article] [PubMed]
  • Caldwell SE, McCall CE, Hendricks CL, Leone PA, Bass DA, McPhail LC. Coregulation of NADPH oxidase activation and phosphorylation of a 48-kD protein(s) by a cytosolic factor defective in autosomal recessive chronic granulomatous disease. J Clin Invest. 1988 May;81(5):1485–1496. [PMC free article] [PubMed]
  • Clark RA, Malech HL, Gallin JI, Nunoi H, Volpp BD, Pearson DW, Nauseef WM, Curnutte JT. Genetic variants of chronic granulomatous disease: prevalence of deficiencies of two cytosolic components of the NADPH oxidase system. N Engl J Med. 1989 Sep 7;321(10):647–652. [PubMed]
  • Curnutte JT. Classification of chronic granulomatous disease. Hematol Oncol Clin North Am. 1988 Jun;2(2):241–252. [PubMed]
  • Curnutte JT, Scott PJ, Mayo LA. Cytosolic components of the respiratory burst oxidase: resolution of four components, two of which are missing in complementing types of chronic granulomatous disease. Proc Natl Acad Sci U S A. 1989 Feb;86(3):825–829. [PMC free article] [PubMed]
  • Dinauer MC, Curnutte JT, Rosen H, Orkin SH. A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease. J Clin Invest. 1989 Dec;84(6):2012–2016. [PMC free article] [PubMed]
  • Dinauer MC, Orkin SH, Brown R, Jesaitis AJ, Parkos CA. The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex. Nature. 327(6124):717–720. [PubMed]
  • Francke U. Random X inactivation resulting in mosaic nullisomy of region Xp21.1----p21.3 associated with heterozygosity for ornithine transcarbamylase deficiency and for chronic granulomatous disease. Cytogenet Cell Genet. 1984;38(4):298–307. [PubMed]
  • Mann KG, Nesheim ME, Church WR, Haley P, Krishnaswamy S. Surface-dependent reactions of the vitamin K-dependent enzyme complexes. Blood. 1990 Jul 1;76(1):1–16. [PubMed]
  • Francke U, Ochs HD, de Martinville B, Giacalone J, Lindgren V, Distèche C, Pagon RA, Hofker MH, van Ommen GJ, Pearson PL, et al. Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. Am J Hum Genet. 1985 Mar;37(2):250–267. [PMC free article] [PubMed]
  • Francke U, Yang-Feng TL, Brissenden JE, Ullrich A. Chromosomal mapping of genes involved in growth control. Cold Spring Harb Symp Quant Biol. 1986;51(Pt 2):855–866. [PubMed]
  • Frankel WN, Stoye JP, Taylor BA, Coffin JM. Genetic analysis of endogenous xenotropic murine leukemia viruses: association with two common mouse mutations and the viral restriction locus Fv-1. J Virol. 1989 Apr;63(4):1763–1774. [PMC free article] [PubMed]
  • Hsieh CL, Sturm R, Herr W, Francke U. The gene for the ubiquitous octamer-binding protein Oct-1 is on human chromosome 1, region cen-q32, and near Ly-22 and Ltw-4 on mouse chromosome 1. Genomics. 1990 Apr;6(4):666–672. [PubMed]
  • Hsieh CL, Vogel US, Dixon RA, Francke U. Chromosome localization and cDNA sequence of murine and human genes for ras p21 GTPase activating protein (GAP). Somat Cell Mol Genet. 1989 Nov;15(6):579–590. [PubMed]
  • Joyner AL, Lebo RV, Kan YW, Tjian R, Cox DR, Martin GR. Comparative chromosome mapping of a conserved homoeo box region in mouse and human. Nature. 1985 Mar 14;314(6007):173–175. [PubMed]
  • Kramer IM, van der Bend RL, Verhoeven AJ, Roos D. The 47-kDa protein involved in the NADPH:O2 oxidoreductase activity of human neutrophils is phosphorylated by cyclic AMP-dependent protein kinase without induction of a respiratory burst. Biochim Biophys Acta. 1988 Sep 16;971(2):189–196. [PubMed]
  • Kruh GD, King CR, Kraus MH, Popescu NC, Amsbaugh SC, McBride WO, Aaronson SA. A novel human gene closely related to the abl proto-oncogene. Science. 1986 Dec 19;234(4783):1545–1548. [PubMed]
  • Lalley PA, Davison MT, Graves JA, O'Brien SJ, Womack JE, Roderick TH, Creau-Goldberg N, Hillyard AL, Doolittle DP, Rogers JA. Report of the committee on comparative mapping. Cytogenet Cell Genet. 1989;51(1-4):503–532. [PubMed]
  • Leto TL, Fortugno-Erikson D, Barton D, Yang-Feng TL, Francke U, Harris AS, Morrow JS, Marchesi VT, Benz EJ., Jr Comparison of nonerythroid alpha-spectrin genes reveals strict homology among diverse species. Mol Cell Biol. 1988 Jan;8(1):1–9. [PMC free article] [PubMed]
  • Leto TL, Lomax KJ, Volpp BD, Nunoi H, Sechler JM, Nauseef WM, Clark RA, Gallin JI, Malech HL. Cloning of a 67-kD neutrophil oxidase factor with similarity to a noncatalytic region of p60c-src. Science. 1990 May 11;248(4956):727–730. [PubMed]
  • Lomax KJ, Leto TL, Nunoi H, Gallin JI, Malech HL. Recombinant 47-kilodalton cytosol factor restores NADPH oxidase in chronic granulomatous disease. Science. 1989 Jul 28;245(4916):409–412. [PubMed]
  • Münke M, Cox DR, Jackson IJ, Hogan BL, Francke U. The murine Hox-2 cluster of homeo box containing genes maps distal on chromosome 11 near the tail-short (Ts) locus. Cytogenet Cell Genet. 1986;42(4):236–240. [PubMed]
  • Nunoi H, Rotrosen D, Gallin JI, Malech HL. Two forms of autosomal chronic granulomatous disease lack distinct neutrophil cytosol factors. Science. 1988 Dec 2;242(4883):1298–1301. [PubMed]
  • Okamura N, Curnutte JT, Roberts RL, Babior BM. Relationship of protein phosphorylation to the activation of the respiratory burst in human neutrophils. Defects in the phosphorylation of a group of closely related 48-kDa proteins in two forms of chronic granulomatous disease. J Biol Chem. 1988 May 15;263(14):6777–6782. [PubMed]
  • Orkin SH. Molecular genetics of chronic granulomatous disease. Annu Rev Immunol. 1989;7:277–307. [PubMed]
  • Parkos CA, Allen RA, Cochrane CG, Jesaitis AJ. Purified cytochrome b from human granulocyte plasma membrane is comprised of two polypeptides with relative molecular weights of 91,000 and 22,000. J Clin Invest. 1987 Sep;80(3):732–742. [PMC free article] [PubMed]
  • Parkos CA, Dinauer MC, Jesaitis AJ, Orkin SH, Curnutte JT. Absence of both the 91kD and 22kD subunits of human neutrophil cytochrome b in two genetic forms of chronic granulomatous disease. Blood. 1989 May 1;73(6):1416–1420. [PubMed]
  • Parkos CA, Dinauer MC, Walker LE, Allen RA, Jesaitis AJ, Orkin SH. Primary structure and unique expression of the 22-kilodalton light chain of human neutrophil cytochrome b. Proc Natl Acad Sci U S A. 1988 May;85(10):3319–3323. [PMC free article] [PubMed]
  • Royer-Pokora B, Kunkel LM, Monaco AP, Goff SC, Newburger PE, Baehner RL, Cole FS, Curnutte JT, Orkin SH. Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location. Nature. 1986 Jul 3;322(6074):32–38. [PubMed]
  • Sechler JM, Malech HL, White CJ, Gallin JI. Recombinant human interferon-gamma reconstitutes defective phagocyte function in patients with chronic granulomatous disease of childhood. Proc Natl Acad Sci U S A. 1988 Jul;85(13):4874–4878. [PMC free article] [PubMed]
  • Segal AW. Cytochrome b-245 and its involvement in the molecular pathology of chronic granulomatous disease. Hematol Oncol Clin North Am. 1988 Jun;2(2):213–223. [PubMed]
  • Segal AW, Cross AR, Garcia RC, Borregaard N, Valerius NH, Soothill JF, Jones OT. Absence of cytochrome b-245 in chronic granulomatous disease. A multicenter European evaluation of its incidence and relevance. N Engl J Med. 1983 Feb 3;308(5):245–251. [PubMed]
  • Seldin MF, Kruh GD. Mapping of Abll within a conserved linkage group on distal mouse chromosome 1 syntenic with human chromosome 1 using an interspecific cross. Genomics. 1989 Feb;4(2):221–223. [PubMed]
  • Shephard EA, Phillips IR, Santisteban I, West LF, Palmer CN, Ashworth A, Povey S. Isolation of a human cytochrome P-450 reductase cDNA clone and localization of the corresponding gene to chromosome 7q11.2. Ann Hum Genet. 1989 Oct;53(Pt 4):291–301. [PubMed]
  • Teahan C, Rowe P, Parker P, Totty N, Segal AW. The X-linked chronic granulomatous disease gene codes for the beta-chain of cytochrome b-245. Nature. 327(6124):720–721. [PubMed]
  • Volpp BD, Nauseef WM, Clark RA. Two cytosolic neutrophil oxidase components absent in autosomal chronic granulomatous disease. Science. 1988 Dec 2;242(4883):1295–1297. [PubMed]
  • Volpp BD, Nauseef WM, Donelson JE, Moser DR, Clark RA. Cloning of the cDNA and functional expression of the 47-kilodalton cytosolic component of human neutrophil respiratory burst oxidase. Proc Natl Acad Sci U S A. 1989 Sep;86(18):7195–7199. [PMC free article] [PubMed]
  • Weening RS, Corbeel L, de Boer M, Lutter R, van Zwieten R, Hamers MN, Roos D. Cytochrome b deficiency in an autosomal form of chronic granulomatous disease. A third form of chronic granulomatous disease recognized by monocyte hybridization. J Clin Invest. 1985 Mar;75(3):915–920. [PMC free article] [PubMed]

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