Type II human complement C2 deficiency: Allele-specific amino acid substitutions (Ser189 → Phe; Gly444 → Arg) cause impaired C2 secretion

Journal of Biological Chemistry

Volumn 271, Issue 10, 1996, Pages 5824-5831

  Wetsel, Rick A ^a,c   Kulics, Judit ^a   Lokki, Marja Liisa ^a   Kiepiela, Photini ^a   Akama, Hideto ^a   Johnson, Charles A C ^a   Densen, Peter ^b   Colten, Harvey R ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF IOWA   (United States)

^c NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT COMPONENT C2;

ALLELISM; AMINO ACID SUBSTITUTION; ARTICLE; COMPLEMENT DEFICIENCY; CONTROLLED STUDY; HAPLOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOFLUORESCENCE; MAJOR HISTOCOMPATIBILITY COMPLEX; NULL CELL; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SKIN FIBROBLAST;

ALLELES; AMINO ACID SEQUENCE; ANIMALS; ARGININE; BASE SEQUENCE; CELLS, CULTURED; CLONING, MOLECULAR; COMPLEMENT C2; COSMIDS; DNA; FEMALE; FIBROBLASTS; FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT; GLYCINE; HUMANS; L CELLS (CELL LINE); MALE; MICE; MOLECULAR SEQUENCE DATA; NUCLEAR FAMILY; OLIGODEOXYRIBONUCLEOTIDES; PEDIGREE; PHENYLALANINE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RECOMBINANT PROTEINS; REFERENCE VALUES; SERINE; SKIN; TRANSFECTION;

EID: 0029920953     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.271.10.5824     Document Type: Article

References (45)

1. Alper, C. A. (1976) J. Exp. Med. 144, 1111-1115
2. Ishikawa, N., Nonaka, M., Wetsel, R. A., and Colten, H. R. (1990) J. Biol. Chem. 265, 19040-19046
3. Ishii, Y., Zhu, Z.-B., Macon, K. J., and Volanakis, J. E. (1993) J. Immunol. 151, 170-174
4. Carroll, M. C., Campbell, R. D., Bentley, D. R , and Porter, R. R. (1984) Nature 307, 237-241
5. Fu, S. M., Kunkel, H G , Brusman, H. P , Allen, F. H., Jr., and Fotmo, M. (1974) J. Exp Med 140, 1108-1111
6. Raum, D D., Awdeh, Z. L., Glass, D., Yunis, E., and Alper, C A. (1981) Immunogenetics 12, 473-483
7. Glass, D., Raum, J. D., Gibson, D., Stillman, J. S., and Schur, P. (1976) J. Clin. Invest. 58, 853-861
8. Rynes, R. I., Britten, A. F., and Pickering, R. J. (1982) Ann. Rheum. Dis. 41, 93-96
9. Johnson, C A., Densen, P., Wetsel, R. A., Cole, F. S., Goeken, N. E., and Colten, H. R (1992) N. Engl J. Med 326, 871-874
10. Johnson, C. A., Densen, P , Hurford, R., Jr , Colten, H. R., and Wetsel, R. A. (1992) J. Biol Chem 267, 9347-9353
11. Truedsson, L., Alper, C. A., Awdeh, Z. L., Johansen, P., Sjoholm, A. G., and Sturfelt, G. (1993) J. Immunol. 151, 5856-5863
12. Alper, C. A. (1987) Immunol Lett. 14, 175-181
13. Awdeh, Z. L., Raum, D. D., Glass, D., Agnello, V., Schur, P. H., Johnston, R B., Jr , Gelfand, E. W., Ballow, M., Yunis, E , and Alper, C. A. (1981) J. Clin Invest. 67, 581-583
14. Wetsel, R. A., Fleischer, D. T , and Haviland, D. L. (1990) J. Biol. Chem. 265, 2435-2440
15. Rigby, P. W., Dieckmann, M., Rhodes, C , and Berg, P (1977) J. Mol. Biol. 113, 237-251
16. Woods, D. E , Edge, M. D., and Colten, H R. (1984) J. Clin. Invest 74, 634-638
17. Reed, K. C., and Mann, D A. (1985) Nucleic Acids Res. 13, 7207-7221
18. Chen, C., and Okayama, H. (1988) BioTechniques 6, 632-638
19. Perlmutter, D H., Colten, H. R., Grossberger, D., Strominger, J., Seidman, J. G , and Chaplin, D D. (1985) J. Clin. Invest. 76, 1449-1454
20. Chirgwin, J. M., Przybyla, A. E , MacDonald, R. J., and Rutter, W. J. (1979) Biochemistry 18, 5294-5299
21. Virca, G D., Northemann, W , Shiels, B. R., Widera, G., and Broome, S. (1990) BioTechniques 8, 370-371
22. Gubler, U., and Huffman, B. J. (1983) Gene (Amst.) 25, 263-269
23. Femberg, A. P., and Vogelstein, B. (1983) Anal Biochem. 132, 6-13
24. Saiki, R. K , Gelfand, D. H , Stoffel, S., Scharf, S. J., Higuchi, R., Horn, G. T., Mullis, K. B., and Erheb, H. A. (1988) Science 239, 487-491
25. Horiuchi, T., Macon, K. J., Kidd, V. J., and Volanakis, J. E. (1989) J. Immunol 142, 2105-2111
26. Barnes, W. M. (1992) Gene (Amst.) 112, 29-35
27. Birnboim, H. C. (1983) Methods Enzymol. 100, 243-255
28. Harlow, E., and Lane, D. (1988) Antibodies: A Laboratory Manual, pp. 359-420, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY
29. Perlmutter, D. H., Cole, F S , Goldberger, G., and Colten, H. R. (1984) J. Biol. Chem. 259, 10380-10385
30. Bentley, D. R. (1986) Biochem. J. 239, 339-345
31. Lyons, S. E., Bruck, M. E., Bowie, E J., and Ginsburg, D. (1992) J. Biol. Chem. 267, 4424-4430
32. Hayashi, I., Hoshiko, S., Makabe, O., and Oh-ishi, S. (1993) J Biol. Chem 268, 17219-17224
33. Faber, J. P., Poller, W., Olek, K., Baumann, U., Carlson, J., Lindmark, B., and Enksson, S. (1993) J. Hepatol. 18, 313-321
34. Durstenfeld, A., Ben-Zeev, O., Reue, K., Stahnke, G., and Doolittle, M. H. (1994) Arterioscler. Thromb. 14, 381-385
35. Miyata, T , Zheng, Y. Z., Sakata, T., Tsushima, N., and Kato, H. (1994) Thromb Haemostasis 71, 32-37
36. Dul, J. L., and Argon, Y. (1990) Proc. Natl. Acad. Sci. U. S. A. 87, 8135-8139
37. Perlmutter, D H. (1993) in Progress in Liver Disease (Ockner, R. K., and Boyer, J., eds) Vol. IX, pp. 139-165, W. B Saunders, Philadelphia
38. Hermans, M. M., de Graaff, E , Kroos, M A., Wisselaar, H. A , Willemsen, R., Oostra, B. A , and Reuser, A. J. (1993) Biochem. J. 289, 687-693
39. Singer, L., Whitehead, W. T., Akama, H., Katz. Y., Fishelson, Z , and Wetsel, R. A. (1994) J. Biol. Chem. 269, 28494-28499
40. Melnick, J , Aviel, S., and Argon, Y. (1992) J. Biol. Chem. 267, 21303-21306
41. Melnick, J., Dul, J. L., and Argon, Y. (1994) Nature 370, 373-375
42. Hartung, K., Fontana, A., Klar, M., Krippner, H., Jorgens, K., Lang, B., Peter, H H , Pichler, W. J., Schendel, D., and Robin-Winn, M. (1989) Rheumatol Int. 9, 13-18
43. Figueroa, J. E., and Densen, P. (1991) Clin. Microbiol Rev 4, 359-395
44. Sullivan, K. E., Petri, M. A., Schmeckpeper, B. J , McLean, R. H., and Winkelstein, J. A. (1994) J. Rheumatol. 21, 1128-1133
45. Truedsson, L., Sturfelt, G., and Nived, O. (1993) Lupus 2, 325-327