Molecular Bases of C7 Deficiency: Three Different Defects

Journal of Immunology

Volumn 159, Issue 2, 1997, Pages 1019-1026

  Fernie, Barbara A ^a   Orren, Ann ^a,b   Sheehan, Gerard ^a,c   Schlesinger, Menachem ^a,d   Hobart, Michael J ^a  

^a MEDICAL RESEARCH COUNCIL   (United Kingdom)

^b NATIONAL UNIVERSITY OF IRELAND   (Ireland)

^c MATER MISERICORDIAE UNIVERSITY HOSPITAL   (Ireland)

^d BARZILAI MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT COMPONENT C6; COMPLEMENT COMPONENT C7;

AMINO ACID SEQUENCE; ARTICLE; DNA SEQUENCE; ETHNOLOGY; EXON; FEMALE; GENETICS; GENOME; HAPLOTYPE; HUMAN; INTRON; IRELAND; ISRAEL; JEW; MALE; MOLECULAR GENETICS; MOROCCO; NUCLEOTIDE SEQUENCE; PEDIGREE;

AMINO ACID SEQUENCE; BASE SEQUENCE; COMPLEMENT C6; COMPLEMENT C7; EXONS; FEMALE; GENOME, HUMAN; HAPLOTYPES; HUMANS; INTRONS; IRELAND; ISRAEL; JEWS; MALE; MOLECULAR SEQUENCE DATA; MOROCCO; PEDIGREE; SEQUENCE ANALYSIS, DNA;

EID: 0031570930     PISSN: 00221767     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (34)

1. Ross, S. C., and P. Denson. 1984. Complement deficiency status: epidemiology, pathogenesis and consequences of neisserial and other infections in an immune deficiency. Medicine 63:243.
2. Würzner, R., A. Orren, and P. J. Lachmann. 1992. Inherited deficiencies of the terminal components of human complement. Immunodefic. Rev. 3:123.
3. Morgan, B. P., and M. J. Walport. 1991. Complement deficiency and disease. Immunol. Today 12:301.
4. Hobart, M. J., B. A. Fernie, and R. G. DiScipio. 1995. Structure of the human C7 gene and comparison with the C6, C8A, C8B, and C9 genes. J. Immunol. 154:5188.
5. Nishizaka, H., T. Horiuchi, Z.-B. Zhu, Y. Fukumori, K. Nagasawa, K. Hayashi, R. Krumdieck, C. G. Cobbs, M. Higuchi, S. Yasunaga, Y. Niho, and J. E. Volonakis. 1996. Molecular bases of inherited human complement component C6 deficiency in two unrelated individuals. J. Immunol. 156:2309.
6. Nishizaka, H., T. Horiuchi, Z.-B. Zhu, Y. Fukumori, and J. E. Volonakis. 1996. Genetic bases of human complement C7 deficiency. J. Immunol. 157:4239.
7. Kaufmann, T., G. Hansch, C. Rittner, P. Spath, F. Tedesco, and P. M. Schneider, 1993. Genetic basis of human complement C8 beta deficiency. J. Immunol. 150:4943.
8. Saucedo, L., L. Ackermann, A. E. Platonov, A. Gewurz, R. Rakita, and P. Denson. 1995. Delineation of additional genetic bases for C8B deficiency: prevalence of null alleles and predominance of C > T exchange in their genesis. J. Immunol. 155:5022.
9. Witzel-Schlömp, K., P. J. Späth, M. J. Hobart, B. Fernie, C. Rittner, T. Kaufmann, and P. M. Schneider. 1997. Genetic basis of human C9 deficiency. J. Immunol. In press.
10. Fernie, B. A., R. Würzner, A. Orren, B. P. Morgan, P. C. Potter, A. E. Platonov, I. V. Vershinina, G. A. Shipulin, P. J. Lachmann, and M. J. Hobart. 1996. Molecular bases of combined subtotal deficiencies of C6 and C7 and their effects in combination with other deficiencies. J. Immunol. 157:3648.
11. Würzner R, A. E. Platonov, V. B. Belobodorov, A. I. Pereverzev, I. V. Vershinina, B. A. Fernie, M. J. Hobart, P. J. Lachmann, and A. Orren. 1996. How partial C7 deficiency with chronic and recurrent bacterial infections can mimic total C7 deficiency: temporary restoration of host C7 levels following plasma transfusion. Immunology 88:407.
12. Fernie, B. A., R. Würzner, D. J. Unsworth, R. I. Tuxworth, and M. J. Hobart. 1995. DNA polymorphisms of the complement C6 and C7 genes. Ann. Hum. Genet. 59:163.
13. Potter, P. C., C. Warburton, R. Würzner, A. Orren, and R. DiScipio. 1993. Association of a 12.5-kilobase allele of the MspI restriction fragment length polymorphism of the C6 gene in patients with total deficiency of the sixth component of complement. Exp. Clin. Immunogenet. 10:38.
14. Alvarez, A., E. Coto, F. Setién, P. Spath, and C. Löpez-Larrea. 1995. Genetic detection of the silent allele (*Q0) in hereditary deficiencies of the human complement C6, C7 and C9 components. Am. J. Med. Genet. 55:408.
15. Fernie, B. A., A. Orren, R. Würzner, A. M. Jones, P. C. Potter, P. J. Lachmann, and M. J. Hobart. 1995. Complement component C6 and C7 haplotypes associated with deficiencies of C6. Ann. Hum. Genet. 59:181.
16. Fernie B. A., A. Orren, M. Schlesinger, R. Würzner, A. E. Platonov, R. C. Cooper, Y. E. Williams, and M. J. Hobart. 1997. DNA haplotypes of the complement C6 and C7 genes associated with deficiencies of the seventh component: and a new DNA polymorphism in C7 exon 13. Ann. Hum. Genet. In press.
17. Egan, L. J., A. Orren, J. Doherty, R. Würzner, and C. F. McCarth. 1994. Hereditary deficiency of the seventh component of complement and recurrent meningococcal infection: investigations of an Irish family using a novel screening assay for complement activity and C7 M/N typing. Epidemiol. Infect. 113:275.
18. Schlesinger, M., Z. Nave, Y. Levy, P. E. Slater, and Z. Fishelson. 1990. Prevalence of hereditary properdin, C7 and C8 deficiencies in patients with meningococcal infections. Clin. Exp. Immunol. 81:423.
19. Jeffreys, A. J. 1979. DNA sequence variants in the Gγ-, Aγ- and δ- and β-globin genes in man. Cell 18:1.
20. Saiki, R. K., D. H. Gelfand, S. Stoffel, S. J. Scharf, R. Higuchi, G. T. Horn, K. B. Mullis, and H. A. Erlich. 1988. Primer-directed enzymic amplification of DNA with thermostable DNA polymerase. Science 239:487.
21. Southern, E. M. 1975. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J. Mol. Biol. 98:503.
22. Sambrook, K., E. F. Fritsch, and T. Maniatis. 1989. Molecular Cloning: A Laboratory Manual, 2nd Ed.). Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
23. DiScipio, R. G., D. N. Chakravarti, H. J. Müller-Eberhard, and G. H. Fey. 1988. The structure of human complement component C7 and the C5b-7 complex. J. Biol. Chem. 263:549.
24. 125I using intensifying screens and hypersensitized film. FEBS Lett. 82:314.
25. Fernie, B. A., Würzner, R., Orren, A., and Hobart, M. J. 1996. A new intronic polymorphism in the C7 gene 36 bp from the common expressed C7 MN polymorphism. Ann. Hum. Genet. 60:179.
26. Newton, C. R., A. Graham, L. E. Heptinstall, S. J. Powell, C. Summers, N. Kalsheker, J. C. Smith, and A. F. Markham. 1989. Analysis of any point mutation in DNA: the amplification refractory mutation system (ARMS). Nucleic Acids Res. 17:2503.
27. Hobart, M. J., B. A. Fernie, R. G. DiScipio, and P. J. Lachmann. 1993. A large-scale molecular map of the C6 and C7 complement component gene region on chromosome 5p13. Hum. Mol. Genet. 2:1035.
28. Setién, F., V. Alvarez, E. Coto, R. G. DiScipio, and C. López-Larrea. 1993. A physical map of the human complement component C6, C7 and C9 genes. Immunogenetics 38:341.
29. Mount, S. M. 1982. A catalogue of splice junction sequences. Nucleic Acids Res. 10:459.
30. Green, M. R. 1991. Biochemical mechanisms of constitutive and regulated pre-mRNA splicing. Annu. Rev. Cell Biol. 7:559.
31. Chou, P. Y., and G. D. Fasman. 1978. A simple method for displaying the hydropathic character of a protein. Annu. Rev. Biochem. 47:251.
32. Hobart, M. J., V. Joysey, and P. J. Lachmann. 1978. Inherited structural variation and linkage relationships of C7. J. Immunogenet. 5:157.
33. Würzner, R., M. J. Hobart, B. A. Fernie, D. Mewar, P. C. Potter, A. Orren, and P. J. Lachmann. 1995. Molecular basis of subtotal complement component C6 deficiency. A carboxy-terminally truncated but functionally active C6. J. Clin. Invest. 95:1877.
34. A. E. Platonov, R. Würzner, V. B. Beloborodov, A. M. Jones, D. V. Troshansky, I. V. Vershinina, P. J. Lachmann, and A. Orren. 1994. Paradoxical reconstitution of complement activity following plasma transfusion of an individual with deficiency of the seventh component of complement. Immunology 81:142.