A novel point mutation in the CYBB gene promoter leading to a rare X minus chronic granulomatous disease variant - Impact on the microbicidal activity of neutrophils

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1792, Issue 3, 2009, Pages 201-210

  Defendi, Federica ^a,b   Decleva, Eva ^b   Martel, Cécile ^a   Dri, Pietro ^b   Stasia, Marie José ^a  

^a LABORATOIRE TIMC IMAG   (France)

^b UNIVERSITY OF TRIESTE   (Italy)

Author keywords

Chronic granulomatous disease; CYBB gene promoter; Cytochrome b558; Microbicidal activity; NADPH oxidase; Point mutation

Indexed keywords

DNA BINDING PROTEIN; HYDROGEN PEROXIDE; RECOMBINANT GRANULOCYTE MACROPHAGE COLONY STIMULATING FACTOR; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE 2;

ABSENCE OF SIDE EFFECTS; ARTICLE; BACTERIAL INFECTION; BACTERICIDAL ACTIVITY; CANDIDA ALBICANS; CHILD; CHRONIC GRANULOMATOUS DISEASE; CLINICAL ARTICLE; CONTROLLED STUDY; CYBB GENE; DRUG DOSE ESCALATION; ENZYME ACTIVITY; EOSINOPHIL; FEMALE; FUNGICIDAL ACTIVITY; GENE; GENE EXPRESSION; GENETIC VARIABILITY; HUMAN; ITALY; MALE; MYCOSIS; NEUTROPHIL; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; STAPHYLOCOCCUS AUREUS; X CHROMOSOME LINKED DISORDER;

BASE SEQUENCE; CHROMOSOMES, HUMAN, X; DNA MUTATIONAL ANALYSIS; FEMALE; GRANULOMATOUS DISEASE, CHRONIC; HUMANS; HYDROGEN PEROXIDE; ITALY; MALE; MEMBRANE GLYCOPROTEINS; MICROBIAL SENSITIVITY TESTS; MOLECULAR SEQUENCE DATA; NADPH OXIDASE; NEUTROPHILS; OXIDANTS; PEDIGREE; POINT MUTATION; PROMOTER REGIONS, GENETIC; SEQUENCE ALIGNMENT; SUPEROXIDES;

STAPHYLOCOCCUS AUREUS;

EID: 61549137180     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbadis.2009.01.005     Document Type: Article

References (46)

1. Winkelstein J.A., Marino M.C., Jr Johnston R.B., Boyle J., Curnutte J., Gallin J.I., Malech H.L., Holland S.M., Ochs H., Quie P., Buckley R.H., Foster C.B., Chanock S.J., and Dickler H. Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine (Baltimore) 79 (2000) 155-169
2. Segal B.M., Leto T.L., Gallin J.I., Malech H.L., and Holland S.M. Genetic, biochemical and clinical features of chronic granulomatous disease. Medicine (Baltimore) 79 (2000) 170-200
3. Schapiro B.L., Newburger P.E., Klempner M.S., and Dinauer M.C. Chronic granulomatous disease presenting in a 69-year-old man. N. Engl. J. Med. 325 (1991) 1786-1790
4. Cathebras P., Sauron C., Morel F., and Stasia M.J. An unusual case of sarcoidosis. Lancet 358 (2001) 294
5. Vignais P.V. The superoxide-generating NADPH oxidase:structural aspects and activation mechanism. Cell. Mol. Life Sci. 59 (2002) 1428-1459
6. Roos D., De Boer M., Kuribayashi F., Meischl C., Weening R.S., Segal A.W., Ahlin A., Nemet K., Hossle J.P., Bertatowska-Matuskiewicz E., and Middletone-Price H. Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease. Blood 87 (1996) 1663-1681
7. Rae J., Newburger P.E., and Dinauer M.C. X-linked chronic granulomatous disease:mutations in the CYBB gene encoding the gp91phox component of respiratory burst oxidase. Am. J. Hum. Genet. 62 (1998) 1320-1331
8. Royer-Pokora B., Kundel L.M., Monaco A.P., Goff S.C., Newburger P.E., Baehner R.L., Cole F.S., Curnutte J.T., and Orkin S.H. Cloning the gene for an inherited disorder-chronic granulomatous disease-on the basis of its chromosomal localization. Nature 322 (1986) 32-38
9. Baehner R.L., Kundel L.M., Monaco A.P., Haines J.L., Conneally P.M., Palmer C., Heerema N., and Orkin S.H. DNA linkage analysis of X chromosome-linked chronic granulomatous disease. Proc. Natl. Acad. Sci. U. S. A. 83 (1986) 3398-3401
10. Stasia M.J., and Li X.J. Genetics and immunopathology of chronic granulomatous disease. Semin. Immunopathol. 30 (2008) 209-235
11. - variant chronic granulomatous disease. Blood 86 (1995) 3575-3582
12. 558 in patients with cytochrome b positive and negative X-linked chronic granulomatous disease. Blood 93 (1999) 2098-2104
13. 558 of the human NADPH oxidase. J. Biol. Chem. 273 (1998) 27879-27886
14. Tsuda M., Kaneda M., Sakiyama T., Inana I., Owada M., Kiryu C., Shiraishi T., and Kakinuma K. A novel mutation at a probable heme-binding ligand in neutrophil cytochrome b558 in atypical X-linked chronic granulomatous disease. Hum. Genet. 103 (1998) 377-381
15. Roesler J., Heyden S., Burdelski M., Schafer H., Kreth H.W., Lehmann R., Paul D., Marzahn J., Gahr M., and Rosen-Wolff A. Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic granulomatous disease. Exp. Hematol. 27 (1999) 505-511
16. Stasia M.J., Bordigoni P., Floret D., Brion J.P., Bost-Bru C., Michel G., Gatel P., Durant-Vital D., Voelckel M.A., Li X.J., Guillot M., Maquet E., Martel C., and Morel F. Characterization of six novel mutations in the CYBB gene leading to different sub-types of X-linked chronic granulomatous disease. Hum. Genet. 116 (2005) 72-82
17. Newburger P.E., Skalnik D.G., Jopkins P.J., Eklund E.A., and Curnutte J.T. Mutations in the promoter region of the gene for gp91phox in X-linked chronic granulomatous disease with decreased expression. J. Clin. Invest. 94 (1994) 1205-1211
18. Weening R.S., De Boer M., Kuijpers T.W., Neefjes V.M., Hack W.W., and Roos D. Point mutations in the promoter region of the CYBB gene leading to mild chronic granulomatous disease. Clin. Exp. Immunol. 122 (2000) 410-417
19. -) in three children with point mutation in the promoter region of the CYBB gene. J. Infect. Dis. 188 (2003) 1593-1604
20. Dale D.C., Liles W.C., Llewellyn C., and Price T.H. Effects of granulocyte-macrophage colony-stimulating factor (GM-CSF) on neutrophil kinetics and function in normal human volunteers. Am. J. Hematol. 57 (1998) 7-15
21. Dri P., Cramer R., Soranzo M.R., Comin A., Miotti V., and Patriarca P. New approaches to the detection of myeloperoxidase deficiency. Blood 60 (1982) 323-327
22. - generating oxidase in heterologous cell-free system derived from Epstein-Barr-virus-transformed human B lymphocytes and bovine neutrophils. Eur. J. Biochem. 202 (1991) 649-655
23. Menegazzi R., Cramer R., Patriarca P., Scheurich P., and Dri P. Evidence that tumor necrosis factor-induced activation of neutrophil respiratory burst on biological surfaces is mediated by the p55 TNF receptor. Blood 84 (1994) 287-293
24. Morel F., Doussière J., Stasia M.J., and Vignais P.V. The respiratory burst of bovine neutrophils. Role of b type cytochrome and coenzyme specificity. Eur. J. Biochem. 152 (1985) 669-679
25. 558, to the extracellular peptide portion of primate gp91phox. Microbiol. Immunol. 45 (2001) 249-279
26. Nagata K., Hirai H., Tanaka K., Ogawa K., Aso T., Sugamura K., Nakamura M., and Takano S. CRTH2, an orphan receptor of T-helper-2-cells, is expressed on basophils and eosinophils and responds to mast cell-derived factor(s). FEBS Lett. 459 (1999) 195-199
27. Hirai H., Tanaka K., Yoshie O., Ogawa K., Kenmotsu K., Takamori Y., Ichimasa M., Sugamura K., Nakamura M., Takano S., and Nagata K. Prostaglandin D2 selectively induces chemotaxis in T helper type 2 cells, eosinophils, and basophils via seven-transmembrane receptor CRTH2. J. Exp. Med. 193 (2001) 255-261
28. Decleva E., Menegazzi R., Busetto S., Patriarca P., and Dri P. Common methodology is inadequate for studies on the microbicidal activity of neutrophils. J. Leukoc. Biol. 79 (2006) 87-94
29. Laemmli U.K. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 227 (1970) 680-685
30. Towbin H., Staehelin T., and Gordon J. Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some application. Proc. Natl. Acad. Sci. U. S. A. 76 (1979) 4350-4354
31. 558 of human neutrophils. Blood 73 (1989) 1686-1694
32. Vergnaud S., Paclet M.H., El Benna J., Pocidalo M.A., and Morel F. Complementation of NADPH oxidase in p67-phox/p40-phox interaction. Eur. J. Biochem. 267 (2000) 1059-1067
33. Chomczynski P., and Sacchi N. Single-step method of RNA isolation by acid guanidium thiocyanate-phenol-chloroform extraction. Anal. Biochem. 162 (1987) 156-159
34. Trocmé C., Gaudin P., Berthier S., Barro C., Zaoui P., and Morel F. Human B lymphocytes synthesize the 92-kDa gelatinase, matrix metalloproteinase-9. J. Biol. Chem. 273 (1998) 20677-20684
35. +) case with a double missense mutation in the gp91phox-cytosolique C-terminal tail. Biochem. Biophys. Acta 1586 (2002) 316-330
36. Smith P.K., Krohn, Hermanson G.T., Mallia A.K., Gartner F.H., Provenzano M.D., Fujimoto E.K., Goeke N.M., Olson B.J., and Klenk D.C. Measurement of protein using bicinchoninic acid. Anal. Biochem. 150 (1985) 76-85
37. 558-negative form of the disease. J. Leukoc. Biol. 51 (1992) 164-171
38. Seger R.A., Tiefenauer L., Matsunaga T., Wildfeuer A., and Newburger P.E. Chronic granulomatous disease due to granulocytes with abnormal NADPH oxidase activity and deficient cytochrome-b. Blood 61 (1983) 423-428
39. Yang D., Suzuki S., Hao L.J., Fujii Y., Yamauchi A., Yamamoto M., Nakamura M., and Kumatori A.L. Eosinophil-specific regulation of gp91phox gene expression by transcription factors GATA-1 and GATA-2. J. Biol. Chem. 275 (2000) 9425-9492
40. Eklund E.A., Luo W., and Skalnik D.G. Characterization of three promoter elements and cognate DNA binding protein(s) necessary for IFN-gamma induction of gp91phox transcription. J. Immunol. 157 (1996) 2418-2429
41. Voo K.S., and Skalnik D.G. Elf-1 and PU.1 induce expression of gp91phox via a promoter element mutated in a subset of chronic granulomatous disease patients. Blood 93 (1999) 3512-3520
42. Suzuki S., Kumatori A., Haagen I.A., Fujii Y., Sadat M.A., Li Jun H., Tsuji Y., Roos D., and Nakamura M. PU.1 as an essential activator for the expression of gp91phox gene in human peripheral neutrophils, monocytes, and B lymphocytes. Proc. Natl. Acad. Sci. U. S. A. 95 (1998) 6085-6090
43. Hamers M.N., Bot A.A., Weening R.S., Sips H.J., and Roos D. Kinetics and mechanism of the bactericidal action of human neutrophils against Escherichia coli. Blood 64 (1984) 635-641
44. Rada B.K., Geiszt M., Kaldi K., Timar C., and Ligeti E. Dual role of phagocytic NADPH oxidase in bacterial killing. Blood 104 (2004) 2947-2953
45. Woodman R.C., Newburger P.E., Anklesaria P., Erickson R.W., Rae J., Cohen M.S., and Curnutte J.T. 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 (1995) 231-241
46. Anderson-Cohen M., Holland S.M., Kuhn D.B., Fleisher T.A., Ding L., Brenner S., Malech H.L., and Roesler J. Severe phenotype of chronic granulomatous disease presenting in a female with a de novo mutation in gp91phox and a non familial, extremely skewed X chromosome inactivation. Clin. Immunol. 109 (2003) 308-317