Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency

Human Genetics

Volumn 106, Issue 5, 2000, Pages 473-481

  Ishibashi, Fuminari ^a   Nunoi, Hiroyuki ^a   Endo, Fumio ^a   Matsuda, Ichiro ^a   Kanegasaki, Shiro ^b  

^a KUMAMOTO UNIV SCHOOL OF MEDICINE   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME; OXIDOREDUCTASE; PHOX PROTEIN; PROTEIN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE; UNCLASSIFIED DRUG;

ARTICLE; DEVICE; ELECTRON TRANSPORT; FEMALE; GENE DELETION; GENE INSERTION; GENE MUTATION; GRANULOMATOSIS; HOMOZYGOSITY; HOST RESISTANCE; HUMAN; HUMAN CELL; INCIDENCE; JAPAN; LIFE EXPECTANCY; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PHAGOCYTE; PRIORITY JOURNAL; PROTEIN DEFICIENCY; RNA SPLICING; SEX DIFFERENCE; STATISTICAL ANALYSIS; X CHROMOSOME LINKAGE;

EID: 0034122176     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390000288     Document Type: Article

References (36)

1. Ariga T, Furuta H, Cho K, Sakiyama Y (1998) Genetic analysis of 13 families with X-linked chronic granulomatous disease reveals a low proportion of sporadic patients and a high proportion of sporadic carriers. Pediatr Res 44:85-92
2. Azuma H, Oomi H, Sasaki K, Kawabata I, Sakaino T, Koyano S, Suzutani T, Nunoi H, Okuno A (1995) A new mutation in exon 12 of the gp91-phos gene leading to cytochrome b-positive X-linked chronic granulomatous disease. Blood 85:3274-3277
3. Babior BM (1999) NADPH oxidase: an update. Blood 93:1464-1476
4. Casimir C, Chetty M, Bohler MC, Garcia R, Fischer A, Griscelli C, Johnson B, Segal AW (1992) Identification of the defective NADPH-oxidase component in chronic granulomatous disease: a study of 57 European families. Eur J Clin Invest 22:403-406
5. Chomczynski P, Sacchi N (1987) Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156-159
6. Clark RA, Malech HL, Gallin JI, Nunoi H, Volpp BD, Pearson DW, Nauseef WM, Curnutte JT (1989) Genetic variants of chronic granulomatous disease: prevalence of deficiencies of two cytosolic components of the NADPH oxidase system. N Engl J Med 321:647-652
7. Dinauer MC, Curnutte JT, Rosen H, Orkin SH (1989) A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease. J Clin Invest 84:2012-2016
8. Dinauer MC, Pierce EA, Bruns GA, 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
9. Eissa NT, Strauss AJ, Haggerty CM, Choo EK, Chu SC, Moss J (1996) Alternative splicing of human inducible nitric-oxide synthase mRNA. Tissue-specific regulation and induction by cytokines. J Biol Chem 271:27184-27187
10. Ezekowitz RA, 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
11. Ezekowitz RA, 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
12. 558 heavy chain gene (CYBB) in a patient with X-linked chronic granulomatous disease. Hum Genet 99:469-473
13. Frey D, Machler M, Seger R, Schmid W, Orkin SH (1988) Gene deletion in a patient with chronic granulomatous disease and McLeod syndrome: fine mapping of the Xk gene locus. Blood 71:252-255
14. Fujita R, Buraczynska M, Gieser L, Wu W, Forsythe P, Abrahamson M, Jacobson SG, Sieving PA, Andreasson S, Swaroop A (1997) Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families. Am J Hum Genet 61:571-580
15. Ho M, Chelly J, Carter N, Danek A, Crocker P, Monaco AP (1994) Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein. Cell 77:869-880
16. Hui YF, Chan SY, Lau YL (1996) Identification of mutations in seven Chinese patients with X-linked chronic granulomatous disease. Blood 88:4021-4028
17. Iwata M, Nunoi H, Yamazaki H, Nakano T, Niwa H, Tsuruta S, Ohga S, Ohmi S, Kanegasaki S, Matsuda I (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
18. 558 in patients with cytochrome b positive and negative X-linked chronic granulomatous disease. Blood 93:2098-2104
19. 558 in B-cell lineage of human lymphocytes. Blood 75:458-461
20. Krawczak M, Cooper DN (1991) Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum Genet 86:425-441
21. Kunkel LM, Smith KD, Boyer SH, Borgaonkar DS, Wachtel SS, Miller OJ, Breg WR, Jones HW Jr, Rary JM (1977) Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci USA 74:1245-1249
22. Kuribayashi F, Boer M de, 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
23. Makino R, Tanaka T, Iizuka T, Ishimura Y, Kanegasaki S (1986) Stoichiometric conversion of oxygen to superoxide anion during the respiratory burst in neutrophils. Direct evidence by a new method for measurement of superoxide anion with diacetyldeuteroheme-substituted horseradish peroxidase. J Biol Chem 261:11444-11447
24. Matsuda I, Yamamoto J, Nagata N, Ninomiya N, Akaboshi I, Ohtsuka H, Katsuki T (1977) Lysosomal enzyme activities in cultured lymphoid cell lines. Clin Chim Acta 80:483-486
25. Meindl A, Dry K, Herrmann K, Manson F, Ciccodicola A, Edgar A, Carvalho MR, Achatz H, Hellebrand H, Lennon A, Migliaccio C, Porter K, Zrenner E, Bird A, Jay M, Lorenz B, Wittwer B, D'Urso M, Meitinger T, Wright A (1996) A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). Nat Genet 13:35-42
26. 558 of human neutrophils: immunocytochemical detection of the antigen in peripheral phagocytes of normal subjects, patients with chronic granulomatous disease, and their carrier mothers. Blood 69:1404-1408
27. Okubo Y, Tanaka T, Yoshikawa K, Hattori K, Kobayashi Y, Seno T, Okubo Y (1992) A male infant of X-linked chronic granulomatous disease associated with the McLeod red cell phenotype. J Jpn Physiol Soc 96:162-167
28. Rae J, Newburger PE, Dinauer MC, Noack D, Hopkins PJ, Kuruto R, Curnutte JT (1998) X-linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase. Am J Hum Genet 62:1320-1331
29. Roos D, Boer M de, Kuribayashi F, Meischl C, Weening RS, Segal AW, Ahlin A, Nemet K, Hossle JP, Bernatowska-Matuszkiewicz E, Middleton-Price H (1996a) Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease. Blood 87:1663-1681
30. Roos D, Curnutte JT, Hossle JP, Lau YL, Ariga T, Nunoi H, Dinauer MC, Gahr M, Segal AW, Newburger PE, Giacca M, Keep NH, Zwieten R van (1996b) X-CGD base: a database of X-CGD-causing mutations. Immunol Today 17:517-521
31. Saint-Basile G de, 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
32. Segal AW, Shatwell KP (1997) The NADPH oxidase of phagocytic leukocytes. Ann N Y Acad Sci 832:215-222
33. Smith RM, Curnutte JT (1991) Molecular basis of chronic granulomatous disease. Blood 77:673-686
34. Suzuki S, Kumaori A, Haagen IA, Fujii Y, Sadat MA, Jun HL, Tsuji Y, Roos D, Nakamura M (1998) PU.1 as an essential activator for the expression of gp91-phox gene in human peripheral neutrophils, monocytes and B lymphocytes. Proc Natl Acad Sci USA 95:6085-6090
35. 558 in atypical X-linked chronic granulomatous disease. Hum Genet 103:377-381
36. 558 of the human NADPH oxidase. J Biol Chem 273:27879-27886