X-linked chronic granulomatous disease: Mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase

American Journal of Human Genetics

Volumn 62, Issue 6, 1998, Pages 1320-1331

  Rae, Julie ^a   Newburger, Peter E ^b   Dinauer, Mary C ^c   Noack, Deborah ^d   Hopkins, Penelope J ^e   Kuruto, Ryoko ^f   Curnutte, John T ^a,d  

^a GENENTECH INC   (United States)

^b UNIVERSITY OF MASSACHUSETTS   (United States)

^c INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d SCRIPPS RESEARCH INSTITUTE   (United States)

^e CELERA   (United States)

^f UNIVERSITY OF SHIZUOKA   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE;

ARTICLE; CHRONIC GRANULOMATOUS DISEASE; DNA DETERMINATION; DNA SEQUENCE; EXON; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENETIC SCREENING; HUMAN; HUMAN CELL; INTRON; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; RESPIRATORY BURST; X CHROMOSOME LINKED DISORDER;

EID: 0031777032     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301874     Document Type: Article

References (67)

1. Ariga T, Sakiyama Y, Furuta H, Matsumoto S (1994d) Molecular genetic studies of two families with X-linked chronic granulomatous disease: mutation analysis and definitive determination of carrier status in patients' sisters. Eur J Haematol 52:99-102
2. Ariga T, Sakiyama Y, Matsumoto S (1994b) Two novel point mutations in the cytochrome b 558 heavy chain gene, detected in two Japanese patients with X-linked chronic granulomatous disease. Hum Genet 94:441
3. _ (1995) A 15-base pair (bp) palindromic insertion associated with a 3-bp deletion in exon 10 of the gp91-phox gene, detected in two patients with X-linked chronic granulomatous disease. Hum Genet 96:6-8
4. Azuma H, Oomi H, Sasaki K, Kawabata I, Sakaino T, Koyano S, Suzutani T, et al (1995) A new mutation in exon 12 of the gp91-phox gene leading to cytochrome b-positive X-linked chronic granulomatous disease. Blood 85:3274-3277
5. Baehner RL, Kunkel LM, Monaco AP, Haines JL, Conneally PM, Palmer C, Heerema N, et al (1986) DNA linkage analysis of X chromosome-linked chronic granulomatous disease. Proc Natl Acad Sci USA 83:3398-3401
6. Berendes H, Bridges RA, Good RA (1957) A fatal granulomatosus of childhood: the clinical study of a new syndrome. Minn Med 40:309-312
7. 558 leading to X-linked chronic granulomatous disease. Blood 77:2482-2487
8. Bridges RA, Berendes H, Good RA (1959) A fatal granulomatous disease of childhood: the clinical, pathological, and laboratory features of a new syndrome. Am J Dis Child 97: 387-408
9. - variant chronic granulomatous disease. Blood 86:3575-3582
10. Burritt JB, Quinn MT, Jutila MA, Bond CW, Jesaitis AJ (1995) Topological mapping of neutrophil cytochrome b epitopes with phage-display libraries. J Biol Chem 270:16974-16980
11. Carothers AM, Urlaub G, Grunberger D, Chasin LA (1993) Splicing mutants and their second-site suppressors at the DHFR locus in Chinese hamster ovary cells. Mol Cell Biol 13:5085-5098
12. Casimir CM, Bu-Ghanim HN, Rodaway ARF, Bentley DL, Rowe P, Segal AW (1991) Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat. Proc Natl Acad Sci USA 88:2753-2757
13. Condino-Neto A, Rae J, Padden C, Whitney C, Curnutte JT, Newburger PE (1997) An intronic mutation in the CYBB gene leading to RNA instability and variant X-linked chronic granulomatous disease. Blood Suppl 90:136A
14. phox. J Biol Chem 270:17075-17077
15. Curnutte JT (1988) The classification of chronic granulomatous disease. Hematol Oncol Clin North Am 2:241-252
16. _ (1993) Chronic granulomatous disease: the solving of a clinical riddle at the molecular level. Clin Immunol Immunopathol Suppl 67:S2-S15
17. Curnutte JT, Kuver R, Scott PJ (1987) Activation of NADPH oxidase in a cell-free system: partial purification of components and characterization of the activation process. J Biol Chem 262:5563-5569
18. Curnutte JT, Orkin SH, Dinauer MC (1994) Genetic disorders of phagocyte function. In: Stamatoyannopoulos G, Neinhuis AW, Majerus PW, Varmus H (eds) The molecular basis of blood diseases. WB Saunders, Philadelphia pp 493-540
19. de Boer M, Bolscher BGJM, Dinauer MC, Orkin SH, Smith CIE, Åhlin A, Weening RS, et al (1992) Splice site mutations are a common cause of X-linked chronic granulomatous disease. Blood 80:1553-1558
20. De Saint-Basile G, Bohler MC, Fischer A, Cartron J, Dufier JL, Griscelli C, Orkin SH (1988) Xp21 DNA microdeletion in a patient with chronic granulomatous disease, retinitis pigmentosa, and McLeod phenotype. Hum Genet 80:85-89
21. DeLeo FR, Quinn MT (1996) Assembly of the phagocyte NADPH oxidase: molecular interaction of oxidase proteins. J Leukoc Biol 60:677-691
22. Densen P, Wilkinson-Kroovand S, Mandell GL, Sullivan G, Oyen R, Marsh WL (1981) Kx: its relationship to chronic granulomatous disease and genetic linkage with Xg. Blood 58:34-37
23. Dinauer MC, Curnutte JT, Rosen H, Orkin SH (1989) A missense mutation in the neutrophil cytochrome b heavy chain leading to X-linked chronic granulomatous disease. J Clin Invest 84:2012-2016
24. Dinauer MC, Pierce EA, Bruns GAP, Curnutte JT, Orkin SH (1990) Human neutrophil cytochrome b light chain (p22-phox): gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease. J Clin Invest 86:1729-1737
25. Eklund EA, Skalnik DG (1995) Characterization of a gp91-phox promoter element that is required for interferon gamma-induced transcription. J Biol Chem 270:8267-8273
26. Ezekowitz RAB, Dinauer MC, Jaffe HS, Orkin SH, Newburger PE (1988) Partial correction of the phagocyte defect in patients with X-linked chronic granulomatous disease by subcutaneous interferon gamma. N Engl J Med 319:146-151
27. Ezekowitz RAB, Orkin SH, Newburger PE (1987) Recombinant interferon gamma augments phagocyte superoxide production and X-chronic granulomatous disease gene expression in X-linked variant chronic granulomatous disease. J Clin Invest 80:1009-1016
28. Finn A, Hadzic N, Morgan G, Strobel S, Levinsky RJ (1990) Prognosis of chronic granulomatous disease. Arch Dis Child 65:942-945
29. Forrest CB, Forehand JR, Axtell RA, Roberts RL, Johnston RB Jr (1988) Clinical features and current management of chronic granulomatous disease. Hematol Oncol Clin North Am 2:253-266
30. Frey D, Mächler M, Seger RA, Schmid W, Orkin SH (1988) Gene deletion in a patient with chronic granulomatous disease and McCleod syndrome: fine mapping of the Xk gene locus. Blood 71:252-255
31. Ginsburg D, Handin RI, Bonthron DT, Donlon TA, Bruns GAP, Latt SA, Orkin SH (1985) Human von Willebrand factor: isolation of complementary DNA clones and chromosomal location. Science 228:1401-1406
32. Haldane JBS (1935) The ratio of spontaneous mutation of a human gene. J Genet 31:317-326
33. Holmes B, Quie PG, Windhorst DB, Good RA (1966) Fatal granulomatous disease of childhood: an inborn abnormality of phagocytic function. Lancet 1:1225-1228
34. 558 in neutrophil membrane analyzed by anti-peptide antibodies and proteolysis. J Biol Chem 267:180-184
35. Iwata M, Nunoi H, Yamazaki H, Nakano T, Niwa H, Tsuruta S, Ohga S, et al (1994) Homologous dinucleotide (GT or TG) deletion in Japanese patients with chronic granulomatous disease with p47-phox deficiency. Biochem Biophys Res Commun 199:1372-1377
36. Kessler O, Chasin LA (1996) Effects of nonsense mutations on nuclear and cytoplasmic adenine phosphoribosyltransferase RNA. Mol Cell Biol 16:4426-4435
37. Kuribayashi F, de Boer M, Leusen JH, Verhoeven AJ, Roos D (1996) A novel polymorphism in the coding region of CYBB, the human gp91-phox gene. Hum Genet 97:611-613
38. Lange K, Gladstien K, Zatz M (1978) Effects of reproductive compensation and genetic drift on X-linked lethals. Am J Hum Genet 30:180-189
39. Leto TL, Lomax KJ, Volpp BD, Nunoi H, Sechler JM, Nauseef WM, Clark RA, et al (1990) Cloning of a 67-kD neutrophil oxidase factor with similarity to a noncatalytic region of p60c-src. Science 248:727-730
40. 558 of the human NADPH oxidase leading to defective translocation of the cytosolic proteins p47-phox and p67-phox. J Clin Invest 93: 2120-2126
41. Leusen JHW, Verhoeven AJ, Roos D (1996) Interactions between the components of the human NADPH oxidase: intrigues in the phox family. J Lab Clin Med 128:461-476
42. Maniatis T, Fritsch EF, Sambrook J (1990) Molecular cloning: a laboratory manual, 2d ed. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY
43. Maquat LE (1995) When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells. RNA 1:453-465
44. Mouy R, Fischer A, Vilmer E, Seger RA, Griscelli C (1989) Incidence, severity, and prevention of infections in chronic granulomatous disease. J Pediatr 114:555-560
45. Nagaraja R, MacMillan S, Kere J, Jones C, Griffin S, Schmatz M, Terrell J, et al (1997) X chromosome map at 75-kb STS resolution, revealing extremes of recombination and GC content. Genome Res 7:210-222
46. Newburger PE, Malawista SE, Dinauer MC, Gelbart T, Woodman RC, Chada S, Shen Q, et al (1994a) Chronic granulomatous disease and glutathione peroxidase deficiency, revisited. Blood 84:3861-3869
47. 558. J Clin Invest 94:1205-1211
48. Nunoi H, Rotrosen D, Gallin JI, Malech HL (1988) Two forms of autosomal chronic granulomatous disease lack distinct neutrophil cytosol factors. Science 242:1298-1301
49. Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T (1989a) Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 86:2766-2770
50. Orita M, Suzuki Y, Sekiya T, Hayashi K (1989b) Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5: 874-879
51. Parkos CA, Dinauer MC, Walker LE, Allen RA, Jesaitis AJ, Orkin SH (1988) The primary structure and unique expression of the 22 kilodalton light chain of human neutrophil cytochrome b. Proc Natl Acad Sci USA 85:3319-3323
52. Rabbani H, de Boer M, Åhlin A, Sundin U, Elinder G, Hammarström L, Palmblad J, et al (1993) A 40-base-pair duplication in the gp91-phox gene leading to X-linked chronic granulomatous disease. Eur J Haematol 51:218-222
53. Redman CM, Marsh WL (1993) The Kell blood group system and the McLeod phenotype. Semin Hematol 30:209-218
54. Reed R, Maniatis T (1986) A role for exon sequences and splice-site proximity in splice-site selection. Cell 46:681-690
55. Roos. D, Curnutte JT, Hossle JP, Lau YL, Ariga T, Nunoi H, Dinauer MC, et al (1996a) X-CGDbase: a database of X-CGD-causing mutations. Immunol Today 17:517-521
56. Roos D, de Boer M, Kuribayashi F, Meischl C, Weening RS, Segal AW, Åhlin A, et al (1996b) Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease. Blood 87:1663-1681
57. Royer-Pokora B, Kunkel LM, Monaco AP, Goff SC, Newburger PE, Baehner RL, Cole FS, et al (1986) Cloning the gene for an inherited disorder - chronic granulomatous disease - on the basis of its chromosomal location. Nature 322: 32-38
58. Schapiro BL, Newburger PE, Klempner MS, Dinauer MC (1991) Chronic granulomatous disease presenting in a 69-year-old man. N Engl J Med 325:1786-1790
59. -245 in chronic granulomatous disease: a multicenter European evaluation of its incidence and relevance. N Engl J Med 308: 245-251
60. -245 is a flavocytochrome containing FAD and the NADPH-binding site of the microbicidal oxidase of phagocytes. Biochem J 284: 781-788
61. Skalnik DG, Strauss EC, Orkin SH (1991) CCAAT displacement protein as a repressor of the myelomonocytic-specific gp91-phox gene promoter. J Biol Chem 266:16736-16744
62. Volpp BD, Lin Y (1993) In vitro molecular reconstitution of the respiratory burst in B lymphoblasts from p47-phox-deficient chronic granulomatous disease. J Clin Invest 91:201-207
63. Volpp BD, Nauseef WM, Clark RA (1988) Two cytosolic neutrophil oxidase components absent in autosomal chronic granulomatous disease. Science 242:1295-1297
64. Wallach TM, Segal AW (1997) Analysis of glycosylation sites on gp91phox, the flavocytochrome of the NADPH oxidase, by site-directed mutagenesis and translation in vitro. Biochem J 321:583-585
65. Woodman RC, Newburger PE, Anklesaria P, Erickson RW, Rae J, Cohen MS, Curnutte JT (1995) A new X-linked variant of chronic granulomatous disease characterized by the existence of a normal clone of respiratory burst-competent phagocytic cells. Blood 85:231-241
66. Youssoufian H, Antonarakis SE, Bell W, Griffin AM, Kazazian HH Jr (1988) Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides. Am J Hum Genet 42:718-725
67. 558: role of heme incorporation and heterodimer formation in maturation and stability of gp91(phox) and p22(phox) subunits. J Biol Chem 272:27288-27294