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

Journal of Clinical Investigation

Volumn 100, Issue 8, 1997, Pages 1907-1918

  Görlach, Agnes ^a   Lee, Pauline L ^a   Roesler, Joachim ^b   Hopkins, Penelope J ^c   Christensen, Barbara ^d   Green, Eric D ^e   Chanock, Stephen J ^d   Curnutte, John T ^a,b  

^a SCRIPPS RESEARCH INSTITUTE   (United States)

^b GENENTECH INC   (United States)

^c CELERA   (United States)

^d NATIONAL CANCER INSTITUTE   (United States)

^e NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

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

Indexed keywords

ARTICLE; CHROMOSOME 7Q; CHRONIC GRANULOMATOUS DISEASE; GENE DELETION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; HUMAN; INCIDENCE; PRIORITY JOURNAL; PSEUDOGENE; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY;

EID: 0040945789     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI119721     Document Type: Article

References (58)

1. Babior, B.M., R.S. Kipnes, and J.T. Curnutte. 1973. Biological defense mechanisms: the production by leukocytes of superoxide, a potential bactericidal agent. J. Clin. Invest. 52:741-744.
2. Curnutte, J.T. 1993. Chronic granulomatous disease: the solving of a clinical riddle at the molecular level. Clin. Immunol. Immunopathol. 67:2s-15s.
3. 245 is a flavocytochrome containing FAD and the NADPH-binding site of the microbicidal oxidase of phagocytes. Biochem. J. 284:781-788.
4. 558: the flavin-binding component of the phagocyte NADPH oxidase. Science (Wash. DC). 256:1459-1462.
5. 558 by photoaffinity and immunochemical labeling. Biochemistry. 32: 8880-8887.
6. Clark, R.A., B.D. Volpp, K.G. Leidal, and W.M. Nauseef. 1990. Two cytosolic components of the human neutrophil respiratory burst oxidase translocate to the plasma membrane during cell activation. J. Clin. Invest. 85:714-721.
7. 558. J. Clin. Invest. 87:352-356.
8. Cross, A.R., and J.T. Curnutte. 1995. The cytosolic activating factors p47-phox and p67-phox have distinct roles in the regulation of electron flow in NADPH oxidase. J. Biol. Chem. 270:6543-6548.
9. Leto, T.L., A.G. Adams, and I. De Mendez. 1994. Assembly of the phagocyte NADPH oxidase: binding of src homology 3 domains to proline-rich targets. Proc. Natl. Acad. Sci. USA. 91:10650-10654.
10. McPhail, L.C. 1994. SH3-dependent assembly of the phagocyte NADPH oxidase. J. Exp. Med. 180:2011-2015.
11. Knaus, U.G., P.G. Heyworth, T. Evans, J.T. Curnutte, and G.M. Bokoch. 1991. Rac 2 is a regulator of phagocyte oxygen radical production. Science (Wash. DC). 254:1512-1515.
12. Abo, A., E. Pick, A. Hall, N. Totty, C. Teahan, and A.W. Segal. 1991. Activation of the NADPH oxidase involves the small GTP-binding protein p21rac1. Nature (Lond.). 353:668-670.
13. Wientjes, F.B., J.J. Hsuan, N.F. Totty, and A.W. Segal. 1993. p40-phox, a third cytosolic component of the activation complex of the NADPH oxidase to contain src homology 3 domains. 1993. Biochem. J. 296:557-611.
14. Tsunawaki, S., H. Miyzunari, M. Nagata, O. Tatsuzawa, and T. Kuratsuji. 1994. A novel cytosolic component, p40-phox, of respiratory burst oxidase associates with p67-phox and is absent in patients with chronic granulomatous disease. Biochem. Biophys. Res. Commun. 199:1378-1382.
15. Parkos C.A., M.C. Dinauer, L.E. Walker, R.A. Allen, A.J. Jesaitis, and S.H. Orkin. 1988. Primary structure and unique expression of the 22 kilodalton light chain of human neutrophil cytochrome b. Proc. Natl. Acad. Sci. USA. 85: 3319-3323.
16. Dinauer, M.C., E.A. Pierce, G.A.P. Bruns, J.T. Curnutte, and S.H. Orkin. 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.
17. Volpp, B.D., W.N. Nauseef, J.E. Donelson, D.R. Moser, and R.A. Clark. 1989. Cloning of the cDNA and functional expression of the 47-kilodalton cytosolic component of human neutrophil respiratory burst oxidase. Proc. Natl. Acad. Sci. USA. 86:7195-7199.
18. Lomax K.J., T.L. Leto, H. Nunoi, J.I. Gallin, and H.L. Malech. 1989. Recombinant 47-kilodalton cytosol factor restores NADPH oxidase in chronic granulomatous disease. Science (Wash. DC). 245:409-412.
19. Leto, T.L., K.J. Lomax, B.D. Volpp, H. Nunoi, J.M.G. Sechler, W.M. Nauseef, R.A. Clark, J.I. Gallin, and H.L. Malech. 1990. Cloning of a 67-kD neutrophil oxidase factor with similarity to a non-catalytic region of p60c-src. Science (Wash. DC). 248:727-730.
20. Royer-Pokora, B., L.M. Kunkel, A.P. Monaco, S.C Goff, P.E. Newburger, R.L. Baehner, F.S. Cole, J.T. Curnutte, and S.H. Orkin. 1986. Cloning the gene for an inherited human disorder - chronic granulomatous disease - on the basis of its chromosomal location. Nature (Lond.). 322:32-38.
21. Roos, D., M. de Boer, F. Kuribayashi, C. Meischl, R.S. Weening, A.W. Segal, A. Ahlin, K. Nemet, J.P. Hossle, E. Bernatowska-Matuszkiewicz, and H. Middleton-Price. 1996. Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease. Blood. 87:1663-1681.
22. Thrasher, A.J., N.H. Keep, F. Wientjes, and A.W. Segal. 1994. Chronic granulomatous disease. Biochem. Biophys. Acta. 1227:1-24.
23. Casimir, C.M., H.N. Bu-Ghanim, A.R.F. Rodaway, D.L. Bentley, P. Rowe, and A.W. Segal. 1991. Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat. Proc. Natl. Acad. Sci. USA. 88: 2753-2757.
24. Volpp, B.D., and Y. Lin. 1993. In vitro reconstitution of the respiratory burst in B lymphoblasts from p47-phox-deficient chronic granulomatous disease. J. Clin. Invest. 91:210-207.
25. Iwata, M., H. Nunoi, H. Yamazaki, T. Nakano, H. Niwa, S. Tsuruta, S. Ohga, S. Ohmi, S. Kanegasaki, and I. Matsuda. 1994. Homologous dinucleotide (GT or TG) deletion in Japanese patients with chronic granulomatous disease with p47-phox deficiency. Biochem. Biophys. Res. Comm. 199:1372-1377.
26. Safaya, S., and R.F. Rieder. 1988. Dysfunctional alpha-globin gene in hemoglobin H disease in blacks. A dinucleotide deletion produces a frameshift and a termination codon. J. Biol. Chem. 263:4328-4332.
27. Chan, E.K.L., S. Takano, L.E.C. Andrade, J.C. Hamel, and A.G. Matera. 1994. Structure, expression, and chromosomal localization of human p80-coilin gene. Nucleic Acids Res. 22:4462-4469.
28. Green, E.D., V.V. Braden, R.S. Fulton, R. Lim, M.S. Ueltzen, D.C. Peluso, R.M. Mohr-Tidwell, J.R. Idol, L.M. Smith, I. Chumakov, et al. 1995. A human chromosome 7 yeast artificial chromosome (YAC) resource: construction, characterization and screening. Genomics. 25:170-183.
29. Devereux, J., P. Haeberli, and O. Smithies. 1984. A comprehensive set of sequence analysis programs for the VAX. Nucleic Acids Res. 12:387-395.
30. Pearson, W.R., and D. Lipman. 1988. Improved tools for biological sequence comparison. Proc. Natl.Acad. Sci. USA. 85:2444-2448.
31. Breathnach, R., and P. Chambon. 1981. Organization and expression of eukaryotic split genes coding for proteins. Annu. Rev. Biochem. 50:349-383.
32. Rodaway, A.R.F., C.G. Teahan, C.M. Casimir, A.W. Segal, and D.L. Bentley 1990. Characterization of the 47-kilodalton autosomal chronic granulomatous disease protein: tissue-specific expression and transcriptional control by retinoic acid. Mol. Cell. Biol. 10:5388-5396.
33. Volpp, B.D., W.N. Nauseef, J.E. Donelson, D.R. Moser, and K.A. Clark. 1989. Cloning of the cDNA and functional expression of the 47-kilodalton cytosolic component of human neutrophil respiratory burst oxidase. (correction). Proc. Natl. Acad. Sci. USA. 86:9563.
34. Britten, R.J., W.F. Baron, D.B. Stout, and E.H. Davidson. 1988. Sources and evolution of human Alu repeated sequences. Proc. Natl. Acad. Sci. USA. 85:4770-4774.
35. Francke, U., C.-L. Hsieh, B.E. Foellmer, K.J. Lomax, H.L. Malech, and T.L. Leto. 1990. Genes for two autosomal recessive forms of chronic granulomatous disease assigned to 1q25 (NCF2) and 7q11.23 (NCF1). Am. J. Hum. Genet. 47:483-492.
36. Smith, G.R. 1994. Hotspots of homologous recombination. 1994. Experientia (Basel). 50:234-241.
37. Jeffreys, A.J., V. Wilson, and S.L. Thein. 1985. Hypervariable minisatellite regions in human DNA. Nature (Lond.). 314:67-73.
38. Roesler, J., A. Görlach, J. Rae, P.J. Hopkins, P. Patino, P. Lee, J.T. Curnutte, and S.J. Chanock. 1995. Recombination events between the normal p47-phox gene and a highly homologous pseudogene are the main cause of autosomal recessive chronic granulomatous disease (CGD). Blood. 86:260a (Abstr.).
39. Goeddel, D.V., D.W. Leung, T.J. Dull, M. Gross, R.M. Lawn, R. McCandliss, P.H. Seeburg, A. Ullrich, E. Yelverton, and P.W. Gray. 1981. The structure of eight distinct cloned human leukocyte interferon cDNAs. Nature (Lond.). 290:20-26.
40. Helmberg, A. 1993. Twin genes and endocrine disease: CYP21 and CYP11B genes. Acta Endocrinol. 129:97-108.
41. Mancuso, D.J., E.A. Tuley, L.A. Westfield, T.L. Lester-Mancuso, M.M. Le Beau, J.M. Sorace, and J.E. Sadler. 1991. Human von Willebrand Factor gene and pseudogene: structural analysis and differentiation by polymerase chain reaction. Biochemistry. 30:253-269.
42. Horowitz, M., S. Wilder, Z. Horowitz, O. Reiner, T. Gelbart, and E. Beutler. 1989. The human glucocerebrosidase gene and pseudogene: structure and evolution. Genomics. 4:87-96.
43. Wilde, C.D. 1986. Pseudogenes. Crit. Rev. Biochem. 19:323-352.
44. Kourilsky, P. 1986. Molecular mechanisms for gene conversion in higher cells. Trends Genet. 2:60-63.
45. Maeda N., and O. Smithies. 1986. The evolution of multigene families: human haptoglobin genes. Ann. Rev. Genet. 20:81-108.
46. Eikenboom, J.C.J., T. Vink, E. Briet, J.J. Sixma, and P.H. Reitsma. 1994. Multiple substitutions in the von Willebrand factor gene that mimic the pseudogenc sequence. Proc. Natl. Acad. Sci. USA. 91:2221-2224.
47. Collier, S., M. Tassabehij, and T. Strachnan. 1993. A de novo pathological point mutation at the 21-hydroxylase locus: implications for gene conversion in the human genome. Nat. Genet. 3:260-265.
48. Metzenberg, A.B., G. Wurzer, T.H.J. Huisman, and O. Smithies. 1991. Homology requirements for unequal crossing over in humans. Genetics. 128: 143-161.
49. Liskay, R.M., A. Letsou, and J.L. Stachelek. 1987. Homology requirement for efficient gene conversion between duplicated chromosomal segments in mammalian cells. Genetics. 115:161-167.
50. Lehrman, M.A., D.W. Russell, J.L. Goldstein, and M.S. Brown. 1987. Alu-Alu recombination deletes splice acceptor cites and produces secreted low density lipoprotein receptor in a subject with familial hypercholesterolemia. J. Biol. Chem. 262:3354-3361.
51. Amor, M., K.L. Parker, H. Globermann, M.I. New, and P.C. White. 1988. Mutation in the CYB21B gene (Ile-172→Asn) causes steroid 21-hydroxylase deficiency. Proc. Natl. Acad. Sci. USA. 85:1600-1604.
52. Urabe, K., A. Kimura, F. Harada, T. Iwanaga, and T. Sasazuki. 1990. Gene conversion in steroid 21-hydroxylase genes. Am. J. Hum. Genet. 46:1178-1186.
53. Cheng, K.C., and G.R. Smith. 1987. Cutting of Chi-like sequences by the RecBCD enzyme of Escherichia coli. J. Mol. Biol. 194:747-750.
54. Stoppa-Lyonnet, D. P.E. Carter, T. Meo, and M. Tosi. 1990. Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements. Proc. Natl. Acad. Sci. USA. 87:1551-1555.
55. Hirt, H., J. Kimelman, M.J. Birnbaum, E.Y. Chen, P.H. Seeburg, N.L. Eberhardt, and A. Barta. 1987. The human growth hormone locus: structure, evolution, and allelic variations. DNA (New York). 6:59-70.
56. Krawinkel, U., G. Zoebelein, and A.L.M. Bothwell. 1986. Palindromic sequences are associated with sites of DNA breakage during gene conversion. Nucl. Acids Res. 4:3871-3882.
57. Slightom, J.L., A.E. Blechl, and O. Smithies. 1980. Human fetal G-and A-globin genes: complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes. Cell. 21:627-638.
58. Higashi Y., H. Yoshioka, M. Yamane, O. Gotoh, and Y. Fuji-Kuriyama. 1986. Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene. Proc. Natl. Acad. Sci. USA. 83:2841-2845.