Multiexon deletions in the type I collagen COL1A2 gene in osteogenesis imperfecta type IB. Molecules containing the shortened α2(I) chains show differential incorporation into the bone and skin extracellular matrix

Journal of Biological Chemistry

Volumn 271, Issue 35, 1996, Pages 21068-21074

  Mundlos, Stefan ^a   Chan, Danny ^a   Weng, Yi Ma ^a   Sillence, David O ^b   Cole, William G ^a,c   Bateman, John F ^a  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b New Children's Hospital   (Australia)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 1; MUTANT PROTEIN;

ADOLESCENT; ARTICLE; BONE; CASE REPORT; COLLAGEN METABOLISM; EXON; EXTRACELLULAR MATRIX; FEMALE; GENE DELETION; HUMAN; HUMAN CELL; MALE; OSTEOGENESIS IMPERFECTA; PRIORITY JOURNAL; SCHOOL CHILD; SKIN;

ADOLESCENT; AMINO ACID SEQUENCE; BASE SEQUENCE; BONE AND BONES; CELLS, CULTURED; CHILD; COLLAGEN; DNA, COMPLEMENTARY; EXONS; EXTRACELLULAR MATRIX; FEMALE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; OSTEOGENESIS IMPERFECTA; SEQUENCE DELETION; SKIN;

EID: 0029787444     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.271.35.21068     Document Type: Article

References (55)

1. Byers, P. H. (1993) in Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects (Royce, P. M., and Steinmann, B., eds) pp. 317-350, Wiley-Liss, Inc. New York
2. Byers, P. H., and Steiner, R. D. (1992) Annu. Rev. Med. 43, 269-282
3. Kuivaniemi, H., Tromp, G., and Prockop, D. J. (1991) FASEB J. 5, 2052-2060
4. Sillence, D. O., Senn, A., and Danks, D. M. (1979) J. Med. Genet. 16, 101-116
5. Paterson, C. R., McAllion, S. J., and Miller, R. (1983) J. Med. Genet. 20, 203-205
6. Willing, M. C., Cohn, D. H., and Byers, P. H. (1990) J. Clin. Invest. 85, 282-290
7. Willing, M. C., Deschenes, S. P., Scott, D. A., Byers, P. H., Slayton, R. L., Pitts, S. H., Arikat, H., and Roberts, E. J. (1994) Am. J. Hum. Genet. 56, 638-647
8. Willing, M. C., Pruchno, C. J., and Byers, P. H. (1993) Am. J. Med. Genet. 45, 223-227
9. Shapiro, J. R., Stover, M. L., Burn, V. E., McKinstry, M. B., Burshell, A. L., Chipman, S. D., and Rowe, D. W. (1992) J. Clin. Invest. 89, 467-573
10. Byers, P. H., Wallis, G. A., and Willing, M. C. (1991) J. Med. Genet. 28, 433-442
11. Deak, S. B., Scholz, P. M., Amenta, P. S., Constantinou, C. D., Levi-Minzi, S. A., Gonzalez-Lavin, L., and Mackenzie, J. W. (1991) J. Biol. Chem. 268, 21827-21832
12. Valli, M., Zolezzi, F., Mottes, M., Antoniazzi, F., Stanzial, F., Tenni, R., Pignatti, P., and Cetta, G. (1993) Eur. J. Biochem. 217, 77-82
13. Starman, B. J., Eyre, D., Charbonneau, H., Harrylock, M., Weis, M. A., Weiss, L., Graham, J. M., Jr., and Byers, P. H. (1989) J. Clin. Invest. 84, 1206-1214
14. Byers, P. H. (1990) Trends Genet. 6, 293-300
15. Mottes, M., Sangalli, A., Valli, M., Lira, M. G., Tenni, R., Buttitta, P., Pignatti, P. F., and Cetta, G. (1992) Hum. Genet. 89, 480-484
16. Cohn, D. H., Apone, S., Eyre, D. R., Starman, B. J., Andreassen, P., Charbonneau, H., Nicholls, A. C., Pope, F. M., and Byers, P. H. (1988) J. Biol. Chem. 263, 14605-14607
17. Niyibizi, C., Bonadio, J., Byers, P. H., and Eyre, D. R. (1992) J. Biol. Chem. 267, 23108-23112
18. Bateman, J. F., and Golub, S. B. (1994) Matrix Biol. 14, 251-262
19. Nicholls, A. C., Oliver, J., Renouf, D. V., Heath, D. A., and Pope, F. M. (1992) Hum. Genet. 88, 627-633
20. Zhuang, J., Tromp, G., Kuivaniemi, H., Nakayasu, K., and Prockop, D. J. (1993) Hum. Genet. 91, 210-216
21. Mottes, M., Sangalli, A., Valli, M., Forlino, A., Gomez-Lira, M., Antoniazzi, F., Constantinou-Deltas, C. D., Cetta, G., and Pignatti, P. F. (1994) Hum. Genet. 93, 681-687
22. Superti-Furga, A., Raghunath, M., Pistone, F. M., Romano, C., and Steinmann, B. (1993) Connect. Tissue Res. 29, 31-39
23. Wenstrup, R. J., Shrago-Howe, A. W., Lever, L. W., Phillips, C. L., Byers, P. H., and Cohn, D. H. (1991) J. Biol. Chem. 266, 2590-2594
24. Sykes, B., Ogilvie, D., Wordsworth, P., Wallis, G. A., Mathew, C., Beighton, P., Nicholls, A. C., Pope, F. M., Thompson, E., Tsipouras, P., Schwartz, R., Jensson, O., Arnason, A., Borresen, A., Heiberg, A., Frey, D., and Steinmann, B. (1990) Am. J. Hum. Genet. 46, 293-307
25. Sillence, D., Butler, B., Latham, M., and Barlow, K. (1993) Am. J. Med. Genet. 45, 183-186
26. Bateman, J. F., Mascara, T., Chan, D., and Cole, W. G. (1984) Biochem. J. 217, 103-115
27. Bateman, J. F., Chan, D., Mascara, T., Rogers, J. G., and Cole, W. G. (1986) Biochem. J. 240, 699-708
28. Chan, D., Lamande, S. R., Cole, W. G., and Bateman, J. F. (1990) Biochem. J. 269, 175-181
29. Bateman, J. F., Harley, V., Chan, D., and Cole, W. G. (1988) Anal. Biochem. 168, 171-176
30. Gough, N. (1988) Anal. Biochem. 173, 93-95
31. Bateman, J. F., Chan, D., Moeller, I., Hannagan, M., and Cole, W. G. (1994) Biochem. J. 302, 729-735
32. Miller, S. A., Dykes, D. D., and Polesky, H. F. (1988) Nucleic Acids Res. 16, 1215
33. Douglas, A. M., Georgalis, A. M., Benton, L. R., Canavan, K. L., and Atchison, B. A. (1992) Anal. Biochem. 201, 262-365
34. Bateman, J. F., Lamande, S. R., Hannagan, M., Moeller, I., Dahl, H. H., and Cole, W. G. (1993) Am. J. Med. Genet. 45, 233-240
35. de Wet, W., Bernard, M., Benson-Chanda, V., Chu, M.-L., Dickson, L., Weil, D., and Ramirez, F. (1987) J. Biol. Chem. 262, 16032-16036
36. Vasan, N. S., Kuivaniemi, H., Vogel, B. E., Minor, R. R., Wootton, J. A. M., Tromp, G., Weksberg, R., and Prockop, D. J. (1991) Am. J. Hum. Genet. 48, 305-317
37. Barsh, G. S., and Byers, P. H. (1981) Proc. Natl. Acad. Sci. U. S. A. 78, 5142-5146
38. Barsh, G. S., Roush, C. L., Bonadio, J., Byers, P. H., and Gelinas, R. E. (1985) Proc. Natl. Acad. Sci. U. S. A. 82, 2870-2874
39. Chu, M., Williams, C. J., Pepe, G., Hirsch, J. L., Prockop, D. J., and Ramirez, F. (1983) Nature 304, 78-80
40. Willing, M. C., Cohn, D. H., Starman, B., Holbrook, K. A., Greenberg, C. R., and Byers, P. H. (1988) J. Biol. Chem. 263, 8398-8404
41. Myers, J. C., Dickson, L. A., de Wet, W. J., Bernard, M. P., Chu, M.-L., Di Liberto, M., Pepe, G., Sangiorgi, F. O., and Ramirez, F. (1983) J. Biol. Chem. 258, 10128-10135
42. Bienkowski, R. S. (1983) Biochem. J. 214, 1-10
43. Lamandé, S. R., Chessler, S. D., Golub, S. B., Byers, P. H., Chan, D., Cole, W. G., Sillence, D. O., and Bateman, J. F. (1995) J. Biol. Chem. 270, 8642-8649
44. Chipman, S. D., Shapiro, J. R., McKinstry, M. B., Stover, M. L., Branson, P., and Rowe, D. W. (1992) J. Bone Miner. Res. 7, 793-805
45. Fedarko, N. S., Moerike, M., Brenner, R., Gehron Robey, P., and Vetter, U. (1992) J. Bone Miner. Res. 7, 921-930
46. Vogel, K. G., Paulsson, M., and Heinegerd, D. (1984) Biochem. J. 223, 587-597
47. Heinegård, D., and Oldberg, A. (1989) FASEB J. 3, 2042-2051
48. Katz, E. P., and David, C. W. (1992) J. Mol. Biol. 228, 963-969
49. Otsubo, K., Katz, E. P., Mechanic, G. L., and Yamauchi, M. (1992) Biochemistry 31, 396-402
50. Eyre, D. R., Paz, M. A., and Gallop, P. M. (1984) Annu. Rev. Biochem. 53, 717-748
51. Yamauchi, M., and Mechanic, G. (1988) in Collagen: Biochemistry (Nimni, M., ed) pp. 157-172, CRC Press, Boca Raton, FL
52. Dombrowski, K. E., Vogel, B. E., and Prockop, D. J. (1989) Biochemistry 28, 7107-7112
53. Hulmes, D. J. S., Kadler, K. E., Mould, A. P., Hojima, Y., Holmes, D. F., Cummings, C., Chapman, J. A., and Prockop, D. J. (1989) J. Mol. Biol. 210, 337-345
54. Holmes, D. F., Watson, R. B., Steinmann, B., and Kadler, K. E. (1993) J. Biol. Chem. 268, 15758-15765
55. Steinmann, B., Royce, P. M., and Superti-Furga, A. (1993) in Connective Tissue and Its Heritable Disorders (Royce, P. M., and Steinmann, B., eds) pp. 351-407, Wiley-Liss, Inc., New York