Mutations in Cartilage Oligomeric Matrix Protein Causing Pseudoachondroplasia and Multiple Epiphyseal Dysplasia Affect Binding of Calcium and Collagen I, II, and IX

Journal of Biological Chemistry

Volumn 276, Issue 9, 2001, Pages 6083-6092

  Thur, Jochen ^a   Rosenberg, Krisztina ^b   Nitsche, D Patric ^a   Pihlajamaa, Tero ^c   Ala Kokko, Leena ^c   Heinegård, Dick ^b   Paulsson, Mats ^a   Maurer, Patrik ^a  

^a UNIVERSITY OF COLOGNE   (Germany)

^b LUND UNIVERSITY   (Sweden)

^c UNIVERSITY OF OULU   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

BONE; CALCIUM; CELL CULTURE; MUTAGENESIS; POSITIVE IONS; SPECTROSCOPY;

MUTATIONS;

PROTEINS;

ASPARTIC ACID; CALCIUM; CARTILAGE OLIGOMERIC MATRIX PROTEIN; COLLAGEN TYPE 1; COLLAGEN TYPE 2; COLLAGEN TYPE 9; MUTANT PROTEIN; PROTEIN SUBUNIT; RECOMBINANT PROTEIN; TYROSINE; ZINC; CARTILAGE MATRIX PROTEIN; COLLAGEN; GLYCOPROTEIN; SCLEROPROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; BINDING AFFINITY; BONE DYSPLASIA; CALCIUM BINDING; CIRCULAR DICHROISM; DISULFIDE BOND; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN CELL; MULTIPLE EPIPHYSEAL DYSPLASIA; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN CONFORMATION; PROTEIN FOLDING; PROTEIN FUNCTION; PROTEIN INTERACTION; PROTEIN SECONDARY STRUCTURE; PROTEIN SECRETION; PROTEIN STABILITY; PROTEIN STRUCTURE; PSEUDOCHONDROPLASIA; ACHONDROPLASIA; AMINO ACID SEQUENCE; CELL LINE; CHEMISTRY; CHONDRODYSPLASIA; GENETICS; METABOLISM; MUTATION;

ACHONDROPLASIA; CALCIUM; CELL LINE; COLLAGEN; EXTRACELLULAR MATRIX PROTEINS; GLYCOPROTEINS; HUMANS; MUTATION; OSTEOCHONDRODYSPLASIAS; PROTEIN CONFORMATION; PROTEIN FOLDING; PROTEIN STRUCTURE, SECONDARY; REPETITIVE SEQUENCES, AMINO ACID;

EID: 0035794206     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.M009512200     Document Type: Article

References (66)

1. International Working Group on Constitutional Diseases of Bone. (1998) Am. J. Med. Genet. 79, 376-382
2. Langer, L. O., Jr., Schaefer, G. B., and Wadsworth, D. T. (1993) Am. J. Med. Genet. 47, 772-781
3. Spranger, J. (1976) Clin. Orthop. 46-59
4. Hecht, J. T., Nelson, L. D., Crowder, E., Wang, Y., Elder, F. F., Harrison, W. R., Francomano, C. A., Prange, C. K., Lennon, G. G., Deere, M., and Lawler, J. (1995) Nat. Genet. 10, 325-329
5. Briggs, M. D., Hoffman, S. M., King, L. M., Olsen, A. S., Mohrenweiser, H., Leroy, J. G., Mortier, G. R., Rimoin, D. L., Lachman, R. S., Gaines, E. S., Ceklluiak, J. A., Knowlton, R. G., and Cohn, D. H. (1995) Nat. Genet. 10, 330-336
6. Hedbom, E., Antonsson, P., Hjerpe, A., Aeschlimann, D., Paulsson, M., Rosa-Pimentel, E., Sommarin, Y., Wendel, M., Oldberg, A., and Heinegård, D. (1992) J. Biol. Chem. 267, 6132-6136
7. Mörgelin, M., Heinegård, D., Engel, J., and Paulsson, M. (1992) J. Biol. Chem. 267, 6137-6141
8. Oldberg, A., Antonsson, P., Lindblom, K., and Heinegård, D. (1992) J. Biol. Chem. 267, 22346-22350
9. Malashkevich, V. N., Kammerer, R. A., Efimov, V. P., Schulthess, T., and Engel, J. (1996) Science 274, 761-765
10. Di Cesare, P. E., Hauser, N., Lehman, D., Pasumarti, S., and Paulsson, M. (1994) FEBS Lett. 354, 237-240
11. Di Cesare, P. E., Carlson, C. S., Stollerman, E. S., Chen, F. S., Leslie, M., and Perris, R. (1997) FEBS Lett. 412, 249-252
12. Hummel, K. M., Neidhart, M., Vilim, V., Hauser, N., Aicher, W. K., Gay, R. E., Gay, S., and Häuselmann, H. J. (1998) Br. J. Rheumatol. 37, 721-728
13. Recklies, A. D., Baillargeon, L., and White, C. (1998) Arthritis Rheum. 41, 997-1006
14. Saxne, T., and Heinegård, D. (1992) Br. J. Rheumatol. 31, 583-591
15. Forslind, K., Eberhardt, K., Jonsson, A., and Saxne, T. (1992) Br. J. Rheumatol. 31, 593-598
16. Lohmander, L. S., Saxne, T., and Heinegård, D. K. (1994) Ann. Rheum. Dis. 53, 8-13
17. Di Cesare, P. E., Carlson, C., Stolerman, E., Hauser, N., Tulli, H., and Paulsson, M. (1996) J. Orthop. Res. 14, 946-955
18. Neidhart, M., Hauser, N., Paulsson, M., Di Cesare, P. E., Michel, B. A., and Häuselmann, H. J. (1997) Br. J. Rheumatol. 36, 1151-1160
19. Kühne, S. A., Neidhart, M., Everson, M. P., Hantzschel, H., Fine, P. R., Gay, S., Häuselmann, H. J., and Gay, R. E. (1998) Rheumatol. Int. 18, 21-25
20. Rosenberg, K., Olsson, H., Mörgelin, M., and Heinegård, D. (1998) J. Biol. Chem. 273, 20397-20403
21. Cohn, D. H., Briggs, M. D., King, L. M., Rimoin, D. L., Wilcox, W. R., Lachman, R. S., and Knowlton, R. G. (1996) Ann. N. Y. Acad. Sci. 785, 188-194
22. Susic, S., McGrory, J., Ahier, J., and Cole, W. G. (1997) Clin. Genet. 51, 219-224
23. Ballo, R., Briggs, M. D., Cohn, D. H., Knowlton, R. G., Beighton, P. H., and Ramesar, R. S. (1997) Am. J. Med. Genet. 68, 396-400
24. Maddox, B. K., Keene, D. R., Sakai, L. Y., Charbonneau, N. L., Morris, N. P., Ridgway, C. C., Boswell, B. A., Sussman, M. D., Horton, W. A., Bächinger H. P., and Hecht, J. T. (1997) J. Biol. Chem. 272, 30993-30997
25. Ferguson, H. L., Deere, M., Evans, R., Rotta, J., Hall, J. G., and Hecht, J. T. (1997) Am. J. Med. Genet. 70, 287-291
26. Briggs, M. D., Mortier, G. R., Cole, W. G., King, L. M., Golik, S. S., Bonaventure, J., Nuytinck, L., De Paepe, A., Leroy, J. G., Biesecker, L., Lipson, M., Wilcox, W. R., Lachman, R. S., Rimoin, D. L., Knowlton, R. G., and Cohn, D. H. (1998) Am. J. Hum. Genet. 62, 311-319
27. Susic, S., Ahier, J., and Cole, W. G. (1998) Hum. Mutat. Suppl 1, S125-S127
28. Loughlin, J., Irven, C., Mustafa, Z., Briggs, M. D., Carr, A., Lynch, S. A., Knowlton, R. G., Cohn, D. H., and Sykes, B. (1998) Hum. Mutat. Suppl. 1, S10-S17
29. Deere, M., Sanford, T., Ferguson, H. L., Daniels, K., and Hecht, J. T. (1998) Am. J. Med. Genet. 80, 510-513
30. Ikegawa, S., Ohashi, H., Nishimura, G., Kim, K. C., Sannohe, A., Kimizuka, M., Fukushima, Y., Nagai, T., and Nakamura, Y. (1998) Hum. Genet. 103, 633-638
31. Delot, E., King, L. M., Briggs, M. D., Wilcox, W. R., and Cohn, D. H. (1999) Hum. Mol. Genet. 8, 123-128
32. Deere, M., Sanford, T., Francomano, C. A., Daniels, K., and Hecht, J. T. (1999) Am. J. Med. Genet. 85, 486-490
33. Misenheimer, T. M., and Mosher, D. F. (1995) J. Biol. Chem. 270, 1729-1733
34. Maynard, J. A., Cooper, R. R., and Ponseti, I. V. (1972) Lab. Invest. 26, 40-44
35. Stanescu, V., Maroteaux, P., and Stanescu, R. (1982) Eur. J. Pediatr. 138, 221-225
36. Stanescu, R., Stanescu, V., Muriel, M. P., and Maroteaux, P. (1993) Am. J. Med. Genet. 45, 501-507
37. Muragaki, Y., Mariman, E. C., van Beersum, S. E., Perala, M., van Mourik, J. B., Warman, M. L., Olsen, B. R., and Hamel, B. C. (1996) Nat. Genet. 12, 103-105
38. Holden, P., Canty, E. G., Mortier, G. R., Zabel, B., Spranger, J., Carr, A., Grant, M. E., Loughlin, J. A., and Briggs, M. D. (1999) Am. J. Hum. Genet. 65, 31-38
39. Paassilta, P., Lohiniva, J., Annunen, S., Bonaventure, J., Le Merrer, M., Pai, L., and Ala-Kokko, L. (1999) Am. J. Hum. Genet. 64, 1036-1044
40. Bönnemann, C. G., Cox, G. F., Shapiro, F., Wu, J. J., Feener, C. A., Thompson, T. G., Anthony, D. C., Eyre, D. R., Darras, B. T., and Kunkel, L. M. (2000) Proc. Natl. Acad. Sci. U. S. A. 97, 1212-1217
41. Lohiniva, J., Paassilta, P., Seppanen, U., Vierimaa, O., Kivirikko, S., and Ala-Kokko, L. (2000) Am. J. Med. Genet. 90, 216-222
42. van der Rest, M., and Mayne, R. (1987) in Structure and Function of Collagen Types (Mayne, R., and Burgeson, R., eds), pp. 195-221, Academic Press, Orlando, FL
43. Olsen, B. R. (1997) Int. J. Biochem. Cell Biol. 29, 555-558
44. Bruckner, P., Mendler, M., Steinmann, B., Huber, S., and Winterhalter, K. H. (1988) J. Biol. Chem. 263, 16911-16917
45. Nakata, K., Ono, K., Miyazaki, J., Olsen, B. R., Muragaki, Y., Adachi, E., Yamamura, K., and Kimura, T. (1993) Proc. Natl. Acad. Sci. U. S. A. 90, 2870-2874
46. Fässler, R., Schnegelsberg, P. N., Dausman, J., Shinya, T., Muragaki, Y., McCarthy, M. T., Olsen, B. R., and Jaenisch, R. (1994) Proc. Natl. Acad. Sci. U. S. A. 91, 5070-5074
47. Hagg, R., Hedbom, E., Mollers, U., Aszodi, A., Fässler, R., and Bruckner, P. (1997) J. Biol. Chem. 272, 20650-20654
48. Kohfeldt, E., Maurer, P., Vannahme, C., and Timpl, R. (1997) FEBS Lett. 414, 557-561
49. Pihlajamaa, T., Perala, M., Vuoristo, M. M., Nokelainen, M., Bodo, M., Schulthess, T., Vuorio, E., Timpl, R., Engel, J., and Ala-Kokko, L. (1999) J. Biol. Chem. 274, 22464-22468
50. Di Cesare, P. E., Mörgelin, M., Mann, K., and Paulsson, M. (1994) Eur. J. Biochem. 223, 927-937
51. Sreerama, N., and Woody, R. W. (1994) J. Mol. Biol. 242, 497-507
52. Engel, J., and Furthmayr, H. (1987) Methods Enzymol. 145, 3-78
53. Sagarriga Visconti, C., Kavalkovich, K., Wu, J., and Niyibizi, C. (1996) Arch. Biochem. Biophys. 328, 135-142
54. Fukuta, S., Oyama, M., Kavalkovich, K., Fu, F. H., and Niyibizi, C. (1998) Matrix Biol. 17, 65-73
55. Vaughan, L., Mendler, M., Huber, S., Bruckner, P., Winterhalter, K. H., Irwin, M. I., and Mayne, R. (1988) J. Cell Biol. 106, 991-997
56. Greenfield, N. J. (1996) Anal. Biochem. 235, 1-10
57. Buneaux, F., Buneaux, J. J., Fabiani, P., and Galmiche, P. (1978) Rev. Rhum. Mal. Osteoartic. 45, 699-701
58. Schor, R. A., Prussin, S. G., Jewett, D. L., Ludowieg, J. J., and Bhatnagar, R. S. (1973) Clin. Orthop. 93, 346-355
59. Rizzo, R., Grandolfo, M., Godeas, C., Jones, K. W., and Vittur, F. (1995) J. Exp. Zool. 273, 82-86
60. Hecht, J. T., Montufar-Solis, D., Decker, G., Lawler, J., Daniels, K., and Duke, P. J. (1998) Matrix Biol. 17, 625-633
61. Hecht, J. T., Deere, M., Putnam, E., Cole, W., Vertel, B., Chen, H., and Lawler, J. (1998) Matrix Biol. 17, 269-278
62. Delot, E., Brodie, S. G., King, L. M., Wilcox, W. R., and Cohn, D. H. (1998) J. Biol. Chem. 273, 26692-26697
63. Smith, R. K., Zunino, L., Webbon, P. M., and Heinegård, D. (1997) Matrix Biol. 16, 255-271
64. Gill, S. C., and von Hippel, P. H. (1989) Anal. Biochem. 182, 319-326
65. Maddox, B. K., Mokashi, A., Keene, D. R., and Bächinger, H. P. (2000) J. Biol. Chem. 275, 26538-26544
66. Chen, H., Deere, M., Hecht, J. T., and Lawler, J. (2000) J. Biol. Chem. 275, 11412-11417