Collagen II containing a cys substitution for Arg-α1-519. Homotrimeric monomers containing the mutation do not assemble into fibrils but alter the self-assembly of the normal protein

Journal of Biological Chemistry

Volumn 272, Issue 10, 1997, Pages 6457-6464

  Fertala, Andrzej ^a,b   Ala Kokko, Leena ^a,b   Wiaderkiewicz, Ryszard ^a,c   Prockop, Darwin J ^a,b  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b DREXEL UNIVERSITY COLLEGE OF MEDICINE   (United States)

^c MEDICAL UNIVERSITY OF SILESIA   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 2; PROCOLLAGEN;

AMINO ACID SUBSTITUTION; ARTICLE; CHONDRODYSPLASIA; COLLAGEN SYNTHESIS; CONFORMATIONAL TRANSITION; DISULFIDE BOND; GENE MUTATION; HUMAN; OSTEOARTHRITIS; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN CONFORMATION; PROTEIN POLYMERIZATION;

AMINO ACID SEQUENCE; ARGININE; COLLAGEN; COMPUTER SIMULATION; CYSTEINE; EXOSTOSES, MULTIPLE HEREDITARY; HUMANS; MACROMOLECULAR SUBSTANCES; MICROSCOPY, ELECTRON; MOLECULAR SEQUENCE DATA; OSTEOARTHRITIS; POINT MUTATION; PROTEIN BINDING; PROTEIN DENATURATION; PROTEIN STRUCTURE, TERTIARY; STRUCTURE-ACTIVITY RELATIONSHIP;

EID: 0030891729     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.272.10.6457     Document Type: Article

References (45)

1. Eyre, D. R., Upton, M. P., Shapiro, F. D., Wilkinson, R. H., and Vawter, G. F. (1986) Am. J. Hum. Genet. 39, 52-67
2. Wu, J.-J., Woods, P. E., and Eyre, D. R. (1992) J. Biol. Chem. 267, 23007-23014
3. Piez, K. A. (1984) in Extracellular Matrix Biochemistry (Piez, K. A., and Reddi, A. H., eds) pp. 1-40, Elsevier, New York
4. van der Rest, M. Garrone, R., and Herbage, D. (1993) Adv. Mol. Cell Biol. 6, 1-67
5. Prockop, D. J., and Kivirikko, K. I. (1995) Annu. Rev. Biochem. 64, 403-434
6. Kuivaniemi, H., Tromp, G., and Prockop, D. J. (1991) FASEB J. 5, 2052-2060
7. Prockop, D. J., and Hulmes, D. J. S. (1994) in Extracellular Matrix Assembly and Structure, (Yurchenko, P. D., Birk, D. E., and Mechan, R. P., eds) pp. 47-90, Academic Press, New York
8. Byers, P. H. (1993) in Connective Tissue and Its Heritable Disorders, (Royce, P. M., and Steinmann, eds) pp. 317-350, Wiley-Liss, New York
9. Horton, W. A., and Hecht, J. T. (1993) in Connective Tissue and Its Heritable Disorders, (Royce, P. M., and Steinmann, eds), pp. 641-675, Wiley-Liss, New York
10. Kuivaniemi, H., Tromp, G., and Prockop, D. J. (1996) Hum. Mutat., in press
11. Vandenberg, P., Khillan, J. S., Prockop, D. J., Helminen, H., Kontusaari, S., and Ala-Kokko, L. (1991) Proc. Natl. Acad. Sci. U. S. A. 88, 7640-7644
12. Metsäranta, M., Garofalo, S., Decker, G., Rintala, M., de Crombrugghe, B., and Vuorio, D. (1992) J. Cell Biol. 118, 203-212
13. Garofalo, S., Vuorio, E., Metsäranta, M., Rosati, R., Toman, D., Vaughan, J., Lozano, G., Mayne, R., Ellard, J., Horton, W., and DeCrombrugghe, B. (1991) Proc. Natl. Acad. Sci. U. S. A. 88, 9648-9652
14. Li, S.-W., Prockop, D. J., Helminen, H., Fässler, R., Lapveteläinen, T., Kiraly, K., Pelttari, A., Arokoski, J., Lui, H., Arita, M., and Khillan, J. S. (1995) Genes Dev. 9, 2821-2830
15. Ala-Kokko, L., Baldwin, C. T., Moskowitz, R. W., and Prockop, D. J. (1990) Proc. Natl. Acad. Sci. U. S. A. 87, 6565-6568
16. Williams, C. J., Rock, M., Considine, E., McCarron, S., Gow, P., Ladda, R., McLain, D., Michels, V. M., Murphy, W., Prockop, D. J., and Ganguly, A. (1995) Hum. Mol. Genet. 4, 309-312
17. Williams, C. J., Considine, E. L., Knowlton, R. G., Reginato, A., Neumann, G., Harrison, D., Buxton, P., Jimenez, S., and Prockop, D. J. (1993) Hum. Genet. 92, 499-505
18. Holderbaum, D., Bleasel, J. F., Johsson, H., Saxne, T., Prockop, D. J., Williams, C. J., and Moskowitz, R. W. (1996) Matrix Biol., in press
19. Bleasel, J. F., Bisagni-Faure, A., Holderbaum, D., Vacher-Lavenu, M. C., Haqqi, T. M., Moskowitz, R. W., and Menkes, C. J. (1995) J. Rheumatol. 22, 255-261
20. Chan, D., Taylor, T. K. F., and Cole, W. G. (1993) J. Biol. Chem. 268, 15238-15245
21. Chan, D., Rogers, J. F., Bateman, J. F., and Cole, W. G. (1995) J. Rheumatol. 43, 37-38
22. Tryggvason, K., Gehron Robey, P., and Martin G. R. (1980) Biochemistry 19, 1284-1289
23. Pihlajaniemi, T., Myllylä, R., Alitalo, K., Vaheri, A., and Kivirikko, K. I. (1981) Biochemistry 20, 7409-7415
24. Fertala, A., Sieron, A. L., Ganguly, A., Li, S.-W., Ala-Kokko, L., Anumula, K. R., and Prockop, D. J. (1994) Biochem. J. 298, 31-37
25. Ala-Kokko, L., Hyland, J., Smith, C., Kivirikko, K. I., Jimenez, S. A., and Prockop, D. J. (1991) J. Biol. Chem. 266, 14175-14178
26. Strauss, W. M. (1989) in Current Protocols in Molecular Biology (Ausbel, F. M., Brent, R., Kingston, R. E., Moore, D. D., Seidman, J. G., Smith, J. A., and Struhl, K., eds) Vol. 1, pp. 2.2.1-2.2.3, John Wiley and Sons, New York
27. Ala-Kokko, L., and Prockop, D. J. (1990) Matrix. Biol. 10, 279-284
28. Chu, M.-L, de Wet, W., Bernard, M. P., Ding, J.-F., Morabito, M., Myers, J. C., Williams, C. J., and Ramirez, F. (1982) Nature 310, 337-340
29. Barsh, G. S., Roush, C. L., and Gelinas, R. E. (1984) J. Biol. Chem. 259, 14906-14913
30. D'Alessio, M., Bernard, M., Pretorius, P. J., de Wet, W., and Ramirez, F. (1988) Gene (Amst.) 67, 105-115
31. Fertala, A., Sieron, A. L., Hojima, Y., Ganguly, A., and Prockop, D. J. (1994) J. Biol. Chem. 269, 11584-11589
32. Bruckner, P., and Prockop, D. J. (1981) Anal. Biochem. 110, 360-368
33. Hojima, Y., van der Rest, M., and Prockop, D. J. (1985) J. Biol. Chem. 260, 15996-16003
34. Kadler, K., Hojima, Y., and Prockop, D. J. (1987) J. Biol. Chem. 262, 15696-15701
35. Kadler, K. W., Hojima, Y., and Prockop, D. J. (1990) Biochem. J. 268, 339-343
36. Fertala, A., Holmes, D. F., Kadler, K. E., Sieron, A., and Prockop, D. J. (1996) J. Biol. Chem. 271, 14864-14869
37. Chen, J. M., Sheldon, A., and Pincus, M. R. (1995) J. Biomol. Struct. & Dyn. 6, 1129-1159
38. Weiner, S. J., Kollman, P. A., Case, D. A., Singh, U. C., Ghio, C., Alagona, G., Profeta, S., and Weiner, P. A. (1984) J. Am. Chem. Soc. 106, 765-784
39. Sieron, A. L., Fertala, A., Ala-Kokko, L., and Prockop, D. J. (1993) J. Biol. Chem. 268, 21232-21237
40. Sokolov, B. P., Sher, B. M., Kozlov, E. A., Tsvetkova, T. A., Delvig, A. A., and Kalinin, V. N. (1987) Biokhimiya 53, 1828-1836
41. Sokolov, B. P., Sher, B. M., Kozlov, E. A., Tsvetkova, T. A., Rudakov, S. S., Delvig, A. A., and Kalinin, V. N. (1989) Med. Sci. Res. 17, 911-913
42. Torre-Blanco, A., Adachi, E., Romanic, A. M., and Prockop, D. J. (1992) J. Biol. Chem. 267, 4968-4973
43. Vogel, B. E., Doelz, R., Kadler, K. E., Hojima, Y., Engel, J., and Prockop, D. J. (1988) J. Biol. Chem. 263, 19249-19255
44. Lightfoot, S. J., Atkinson, M. S., Murphy, G., Byers, P. H., and Kadler, K. E. (1994) J. Biol. Chem. 269, 30352-30357
45. Eyre, D. R., Weis, M. A., and Moskowitz, R. W. (1991) J. Clin. Invest. 87, 357-361