Molecular Characterization of Properdin Deficiency Type III: Dysfunction Produced by a Single Point Mutation in Exon 9 of the Structural Gene Causing a Tyrosine to Aspartic Acid Interchange

Journal of Immunology

Volumn 157, Issue 8, 1996, Pages 3666-3671

  Fredrikson, Gunilla Nordin ^a   Westberg, Joakim ^b   Kuijper, Ed J ^c   Tijssen, Cees C ^d   Sjöholm, Anders G ^a   Uhlén, Mathias ^b   Truedsson, Lennart ^a  

^a LUND UNIVERSITY   (Sweden)

^b ROYAL INSTITUTE OF TECHNOLOGY   (Sweden)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

^d CPRLab   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT COMPONENT C3; OLIGOPEPTIDE; PROPERDIN;

AMINO ACID SEQUENCE; ARTICLE; EXON; GENE; GENETIC LINKAGE; GENETICS; HUMAN; IMMUNOLOGY; IN VITRO STUDY; MALE; MENINGOCOCCOSIS; METABOLISM; MOLECULAR GENETICS; POINT MUTATION; POLYMERASE CHAIN REACTION; PROTEIN BINDING; RECESSIVE GENE; SEQUENCE ANALYSIS; X CHROMOSOME;

AMINO ACID SEQUENCE; COMPLEMENT C3; EXONS; GENES; GENES, RECESSIVE; HUMANS; LINKAGE (GENETICS); MALE; MENINGOCOCCAL INFECTIONS; MOLECULAR SEQUENCE DATA; OLIGOPEPTIDES; POINT MUTATION; POLYMERASE CHAIN REACTION; PROPERDIN; PROTEIN BINDING; SEQUENCE ANALYSIS; X CHROMOSOME;

EID: 0030587925     PISSN: 00221767     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (33)

1. Frank, M. M., and L. F. Fries. 1991. The role of complement in inflammation and phagocytosis. Immunol. Today 12:322.
2. Pillemer, L., L. Blum, I. H. Lepow, O. A. Ross, E. W. Todd, and A. C. Warlaw. 1954. The properdin system and immunity: demonstration and isolation of a new serum protein, properdin, and its role in immune phenomena. Science 120:279.
3. Fearon, D. T., and K. F. Austen. 1975. Properdin: binding to C3b and stabilization of the C3b-dependent C3 convertase. J. Exp. Med. 142:856.
4. Pangburn, M. K. 1989. Analysis of the natural polymeric forms of human properdin and their functions in complement activation. J. Immunol. 142:202.
5. Goundis, D., and K. B. M. Reid. 1988. Properdin, the terminal complement components, thrombospondin and the circumsporozoite protein of malaria parasites contain similar sequence motifs. Nature 335:82.
6. Maves, K. K., and J. M. Weiler. 1992. Detection of properdin mRNA in human peripheral blood monocytes and spleen. J. Lab. Clin. Med. 120:762.
7. Minta, J. O. 1987. Biosynthesis of properdin by U937 cells and Hep G2 cells. Fed. Proc. 46:771.
8. Schwaeble, W., W. G. Dippold, M. K.-H. Schäfer, H. Pohla, D. Jonas, B. Luttig, E. Weihe, H. P. Huemer, M. P. Dierich, and K. B. M. Reid. 1993. Properdin, a positive regulator of complement activation, is expressed in human T cell lines and perpheral blood T cells. J. Immunol. 151:2521.
9. Coleman, M. P., J. C. Murray, H. F. Willard, K. F. Nolan, K. B. M. Reid, D. J. Blake, S. Lindsay, S. S. Bhattacharaya, A. Wright, and K. E. Davies. 1991. Genetic and physical mapping around the properdin P gene. Genomics 11:991.
10. Nolan, K. F., S. Kaluz, J. M. G. Higgins, D. Goundis, and K. B. M. Reid. 1992. Characterization of the human properdin gene. Biochem. J. 287:291.
11. Westberg, J., G. Nordin Fredrikson, L. Truedsson, A. G. Sjöholm, and M. Uhlén. 1995. Sequence-based analysis of properdin deficiency: identification of point mutations in two phenotypic forms of an X-linked immunodeficiency. Genomics 29:1.
12. Figueroa, J. E., and P. Densen. 1991. Infectious diseases associated with complement deficiencies. Clin. Microbiol. Rev. 4:359.
13. Densen, P., J. M. Weiler, J. M. Griffiss, and L. G. Hoffmann. 1987. Familial properdin deficiency and fatal meningococcemia. N. Engl. J. Med. 316:922.
14. Sjöholm, A. G. 1990. Inherited complement deficiency states: implications for immunity and immunological disease. APMIS 98:861.
15. Sjöholm, A. G., J.-H. Braconier, and C. Söderström. 1982. Properdin deficiency in a family with fulminant meningococcal infections. Clin. Exp. Immunol. 50: 291.
16. Nielsen, H. E., and C. Koch. 1987. Congenital properdin deficiency and meningococcal infection. Clin. Immunol. Immunopathol. 44:134.
17. Sjöholm, A. G., C. Söderström, and L.-Å. Nilsson. 1988. A second variant of properdin deficiency: the detection of properdin at low concentrations in affected males. Complement 5:130.
18. Sjöholm, A. G., E. J. Kuijper, C. C. Tijssen, A. Jansz, P. Bol, L. Spanjaard, and H. C. Zanen. 1988. Dysfunctional properdin in a Dutch family with meningococcal disease. N. Engl. J. Med. 319:33.
19. Hultman, T., S. Bergh, T. Moks, and M. Uhlén. 1991. Bidirectional solid-phase sequencing of in vitro-amplified plasmid DNA. Biotechniques 10:84.
20. Maniatis, T., E. F. Fritsch, and J. Sambrook. 1989. Molecular Cloning: A Laboratory Manual. 2nd Ed. Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, p. 9-17.
21. Hopp, T. P., and K. R. Woods. 1981. Prediction of protein antigenic determinants from amino acid sequences. Proc. Natl. Acad. Sci. USA 78:3824.
22. Klint, C., L. Truedsson, and G. Sturfelt. 1995. Binding to erythrocyte complement receptor type I of BSA/anti-BSA complexes opsonised by C4A3 or C4B1 in presence of serum. Scand. J. Immunol. 42:425.
23. Truedsson, L., and G. Sturfelt. 1983. Human factor D of the alternative pathway: purification and quantitation by enzyme amplified electroimmunoassay. J. Immunol. Methods 63:207.
24. Hammer, C. H., and M. Berger. 1988. The components: purification procedures. In The Complement System. K. Rother and G. O. Till, eds. Springer Verlag, Berlin, p. 17.
25. Laemmli, U. K. 1970. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 227:680.
26. Nordin Fredrikson, G., L. Truedsson, and A. G. Sjöholm. 1993. New procedure for the detection of complement deficiency by ELISA. Analysis of activation pathways and circumvention of rheumatoid factor influence. J. Immunol. Methods 166:263.
27. Voller A., D. E. Bidwell, and A. Bartlett. 1976. Enzyme immunoassays in diagnostic medicine. Bull. World Health Organ. 53:55.
28. Nolan, K. F., and K. B. M. Reid. 1993. Characterization and analysis of the gene for human properdin. In Complement Today, Vol. 1. J. M. Cruse and R. E. Lewis Jr., eds. Karger, Basel, p. 121.
29. Nilsson, U. R., K. E. Storm, H. Elwing, and B. Nilsson. 1993. Conformational epitopes of C3 reflecting its mode of binding to an artificial polymer surface. Mol. Immunol. 30:211.
30. Fishelson, Z., and H. J. Müller-Eberhard. 1982. C3 convertase of human complement: enhanced formation and stability of the enzyme generated with nickel instead of magnesium. J. Immunol. 129:2603.
31. Farries, T. C., P. J. Lachmann, and R. A. Harrison. 1988. Analysis of the interactions between properdin, the third component of complement (C3), and its physiological activation products. Biochem. J. 252:47.
32. Daoudaki, M. E., J. D. Becherer, and J. D. Lambris. 1988. A 34-amino acid peptide of the third component of complement mediates properdin binding. J. Immunol. 140:1577.
33. Tuszynski, G. P., V. L. Rothman, A. H. Deutch, B. K. Hamilton, and J. Eyal. 1992. Biological activities of peptides and peptide analogues derived from common sequences present in thrombospondin, properdin and malarial proteins. J. Cell. Biol. 116:209.