Nonsense mutation in exon 4 of human complement C9 gene is the major cause of Japanese complement C9 deficiency

Human Genetics

Volumn 102, Issue 6, 1998, Pages 605-610

  Kira, Ryutaro ^a   Ihara, Kenji ^a   Takada, Hidetoshi ^a   Gondo, Kenjiro ^a   Hara, Toshiro ^a  

^a KYUSHU UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT COMPONENT C9; COMPLEMENTARY DNA;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; COMPLEMENT DEFICIENCY; DNA DETERMINATION; EPIDEMIC MENINGITIS; EXON; FEMALE; GENE SEQUENCE; HUMAN; JAPAN; MALE; NONSENSE MUTATION; PATIENT; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; COMPLEMENT C9; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HUMANS; JAPAN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA;

EID: 0031927160     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050749     Document Type: Article

References (51)

1. Abbott C, West L, Povey S, Jeremiah S, Murad Z, DiScipio R, Fey G (1989) The gene for human complement component C9 mapped to chromosome 5 by polymerase chain reaction. Genomics 4:606-609
2. Barker D, Schafer M, White R (1984) Restriction sites containing CpG show a higher frequency of polymorphism in human DNA. Cell 36:131-138
3. Coulondre C, Miller JH, Farabaugh PJ, Gilbert W (1978) Molecular basis of base substitution hotspots in Escherichia coli. Nature 274:775-781.
4. Chakravarti DN, Chakravarti B, Parra CA, Muller-Eberhard HJ (1989) Structural homology of complement protein C6 with other channel-forming proteins of complement. Proc Natl Acad Sci USA 86:2799-2803
5. DiScipio RG, Gehring MR, Podack ER, Kan CC, Hugli TE, Fey GH (1984) Nucleotide sequence of cDNA and derived amino acid sequence of human complement component C9. Proc Natl Acad Sci USA 81:7298-7302
6. DiScipio RG, Chakravarti DN, Muller-Eberhard HJ, Fey GH (1988) The structure of human complement component C7 and the C5b- 7 complex. J Biol Chem 263:549-560
7. Doolittle WF (1985) The genealogy of some recently evolved vertebrate proteins. Trends Biochem Sci 10:233-237
8. Dupuis M, Peitsch MC, Hamann U, Stanley KK, Tschopp J (1993) Mutations in the putative lipid-interaction domain of complement C9 result in defective secretion of the functional protein. Mol Immunol 30:95-100
9. Fernie BA, Würzner R, Orren A, Morgan BP, Potter PC, Platonov AE, Vershinina IV, Shipulin GA, Lachmann PJ, Hobart MJ (1996) Molecular bases of combined subtotal deficiencies of C6 and C7: their effects in combination with other C6 and C7 deficiencies. J Immunol 157:3648-3657
10. Fernie BA, Orren A, Sheehan G, Schlesinger M, Hobart MJ (1997) Molecular bases of C7 deficiency: three different defects. J Immunol 159:1019-1026
11. Fine DP, Gewurz H, Griffiss M, Lint TF (1983) Meningococcal meningitis in a woman with inherited deficiency of the ninth component of complement. Clin Immunol Immunopathol 28:413-417
12. Frank MM (1987) Complement in the pathophysiology of human disease. N Engl J Med 316:1525-1530
13. Fukumori Y, Yoshimura K, Ohnoki S, Yamaguchi H, Akagaki Y, Inai S (1989) A high incidence of C9 deficiency among healthy blood donors in Osaka, Japan. Int Immunol 1:85-89
14. Haefliger JA, Tschopp J, Nardelli D, Wahli W, Kocher HP, Tosi M, Stanley KK (1987) Complementary DNA cloning of complement C8 beta and its sequence homology to C9. Biochemistry 26:3551-3556
15. Haefliger JA, Tschopp J, Vial N, Jenne DE (1989) Complete primary structure and functional characterization of the sixth component of the human complement system. Identification of the C5b- binding domain in complement C6. J Biol Chem 264:18041-18051
16. Harriman GR, Esser AF, Podack ER, Wunderlich AC, Braude AI, Lint TF, Curd JG (1981) The role of C9 in complement-mediated killing of Neisseria. J Immunol 127:2386-2390
17. Hatanaka M, Seya T, Yoden A, Fukamoto K, Semba T, Inai S (1992) Analysis of C5b-8 binding sites in the C9 molecule using monoclonal antibodies: participation of two separate epitopes of C9 in C5b-8 binding. Mol Immunol 29:911-916
18. Hayama K, Sugai N, Tanaka S, Lee S, Kikuchi H, Ito J, Suzuki J, Nagata Y, Kondo H, Harayama O, Tuzuki K, Yoshida S, Fujita M, Ohmori F, Kawai T, Akagaki Y, Inai S (1989) High-incidence of C9 deficiency throughout Japan: there are no significant differences in incidence among eight areas of Japan. Int Arch Allergy Appl Immunol 90:400-404
19. Hobart MJ, Fernie BA, DiScipio RG (1995) Structure of the human C7 gene and comparison with the C6, C8A, C8B, and C9 genes. J Immunol 154:5188-5194
20. Horiuchi T, Nishizaka H, Kojima T, Schneider PM, Inaba S, Fukumori Y (1997) Molecular basis for human complement component 9 (C9) deficiency. Proc Complement Symp 34:20
21. Howard OM, Rao AG, Sodetz JM (1987) Complementary DNA and derived amino acid sequence of the beta subunit of human complement protein C8: identification of a close structural and ancestral relationship to the alpha subunit and C9. Biochemistry 26:3565-3570
22. Inaba S, Okochi K, Fukada K, Kinoshita S, Maeda Y, Yoshinari M (1987) The occurrence of precipitating antibodies in transfused Japanese patients with hereditary ninth component of complement deficiency and frequency of C9 deficiency. Transfusion 27:475-477
23. Inai S, Kitamura H, Hiramatsu S, Nagaki K (1979) Deficiency of the ninth component of complement in man. J Clin Lab Immunol 2:85-87
24. Inai S, Akagaki Y, Moriyama T, Fukumori Y, Yoshimura K, Ohnoki S, Yamaguchi H (1989) Inherited deficiencies of the late-acting complement components other than C9 found among healthy blood donors. Int Arch Allergy Appl Immunol 90:274-279
25. Kaufmann T, Hänsen G, Rittner C, Späth P, Tedesco F, Schneider PM (1993) Genetic basis of human complement C8 beta deficiency. J. Immunol 150:4943-4947
26. Laine RO, Esser AF (1989) Detection of refolding conformers of complement protein C9 during insertion into membranes. Nature 341:63-65
27. Lichtenheld MG, Olsen KJ, Lu P, Lowrey DM, Hameed A, Hengartner H, Podack ER (1988) Structure and function of human perforin. Nature 335:448-451
28. Lint TF, Gewurz H (1986) Component deficiencies. 9: The ninth component. Prog Allergy 39:307-310
29. Lint TF, Zeitz HJ, Scott D, Gewurz H (1978) Hereditary deficiency of the ninth component of complement (C) in man. Clin Res 26:714A
30. Lowrey DM, Aebischer T, Olsen K, Lichtenheld M, Rupp F, Hengartner H, Podack ER (1989) Cloning, analysis, and expression of murine perforin 1 cDNA, a component of cytolytic T-cell granules with homology to complement component C9. Proc Natl Acad Sci USA 86:247-251
31. Marazziti D, Eggertsen G, Fey GH, Stanley KK (1988) Relationships between the gene and protein structure in human complement component C9. Biochemistry 27:6529-6534
32. Morgan BP, Gasque P (1997) Extrahepatic complement biosynthesis: where, when and why? Clin Exp Immunol 107:1-7
33. Nagata M, Hara T, Aoki T, Mizuno Y, Akeda H, Inaba S, Tsumoto K, Ueda K (1989) Inherited deficiency of ninth component of complement: an increased risk of meningococcal meningitis. J Pediatr 114:260-264
34. Newton CR, Graham A, Heptinstall LE, Powell SJ, Summers C, Kalsheker N, Smith JC, Markham AF (1989) Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res 17:2503-2516
35. Nishizaka H, Horiuchi T, Zhu ZB, Fukumori Y, Nagasawa K, Hayashi K, Krumdieck R, Cobbs CG, Higuchi M, Yasunaga S, Niho Y, Volanakis JE (1996a) Molecular bases for inherited human complement component C6 deficiency in two unrelated individuals. J Immunol 156:2309-2315
36. Nishizaka H, Horiuchi T, Zhu ZB, Fukumori Y, Volanakis JE (1996b) Genetic bases of human complement C7 deficiency. J Immunol 157:4239-4243
37. Patthy L (1988) Detecting distant homologies of mosaic proteins. Analysis of the sequences of thrombomodulin, thrombospondin complement components C9, C8 alpha and C8 beta, vitronectin and plasma cell membrane glycoprotein PC-1. J Mol Biol 202:689-696
38. Peitsch MC, Amiguet P, Guy R, Brunner J, Maizel JV Jr, Tschopp J (1990) Localization and molecular modelling of the membrane- inserted domain of the ninth component of human complement and perforin. Mol Immunol 27:589-602
39. Rao AG, Howard OM, Ng SC, Whitehead AS, Colten HR, Sodetz JM (1987) Complementary DNA and derived amino acid sequence of the alpha subunit of human complement protein C8: evidence for the existence of a separate alpha subunit messenger RNA. Biochemistry 26:3556-3564
40. Rogne S, Myklebos O, Stanley K, Kessel AG van (1989) The gene for human complement C9 is on chromosome 5. Genomics 5:149-152
41. Saucedo L, Ackermann L, Platonov AE, Gewurz A, Rakita RM, Densen P (1995) Delineation of additional genetic bases for C8 beta deficiency. Prevalence of null alleles and predominance of C→T transition in their genesis. J Immunol 155:5022-5028
42. Shinkai Y, Takio K, Okumura K (1988) Homology of perforin to the ninth component of complement (C9). Nature 334:525-527
43. Stanley KK (1989) The molecular mechanism of complement C9 insertion and polymerisation in biological membranes. Curr Top Microbiol Immunol 140:49-65
44. Stanley KK, Kocher HP, Luzio JP, Jackson P, Tschopp J (1985) The sequence and topology of human complement component C9. EMBO J 4:375-382
45. Stanley KK, Page M, Campbell AK, Luzio JP (1986) A mechanism for the insertion of complement component C9 into target membranes. Mol Immunol 23:451-458
46. Taylor KM, Trimby AR, Campbell AK (1997) Mutation of recombinant complement component C9 reveals the significance of the N-terminal region for polymerization. Immunology 91:20-27
47. Tedesco F, Nürnberger W, Perissutti S (1993) Inherited deficiencies of the terminal complement components. Int Rev Immunol 10:51-64
48. Witzel-Schlömp K, Späth PJ, Hobart MJ, Fernie BA, Rittner C, Kaufmann T, Schneider PM (1997) The human complement C9 gene: identification of two mutations causing deficiency and revision of the gene structure. J Immunol 158:5043-5049
49. Wu DY, Ugozzoli L, Pal BK, Wallace RB (1989) Allele-specific enzymatic amplification of beta-globin genomic DNA for diagnosis of sickle cell anemia. Proc Natl Acad Sci USA 86:2757-2760
50. Würzner R, Hobart MJ, Fernie BA, Mewar D, Potter PC, Orren A, Lachmann PJ (1995) Molecular basis of subtotal complement C6 deficiency. A carboxy-terminally truncated but functionally active C6. J Clin Invest 95:1877-1883
51. Zoppi M, Weiss M, Nydegger UE, Hess T, Späth PJ (1990) Recurrent meningitis in a patient with congenital deficiency of the C9 component of complement. First case of C9 deficiency in Europe. Arch Intern Med 150:2395-2399