A RUNX2/PEBP2αA/CBFA1 mutation displaying impaired transactivation and Smad interaction in cleidocranial dysplasia

Proceedings of the National Academy of Sciences of the United States of America

Volumn 97, Issue 19, 2000, Pages 10549-10554

  Zhang, Yu Wen ^a,e   Yasui, Natsuo ^b   Ito, Kosei ^a   Huang, Gang ^a   Fujii, Makiko ^c   Hanai, Jun Ichi ^c   Nogami, Hiroshi ^d   Ochi, Takahiro ^b   Miyazono, Kohei ^c   Ito, Yoshiaki ^a  

^a KYOTO UNIVERSITY   (Japan)

^b OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

^c CANCER INSTITUTE   (Japan)

^d Central Hospital   (Japan)

^e VAN ANDEL RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; BONE MORPHOGENETIC PROTEIN; COMPLEMENTARY DNA; TRANSCRIPTION FACTOR; TRANSFORMING GROWTH FACTOR BETA; DNA BINDING PROTEIN; TRANSCRIPTION FACTOR RUNX2; TUMOR PROTEIN;

ANIMAL CELL; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE DISEASE; CHROMOSOME 17; CHROMOSOME 6P; CLEIDOCRANIAL DYSPLASIA; DNA BINDING; GENE MAPPING; GENE MUTATION; HUMAN; MOUSE; MURINE LEUKEMIA VIRUS; NONHUMAN; NONSENSE MUTATION; OSSIFICATION; POLYOMA VIRUS; PRIORITY JOURNAL; TRANSACTIVATION; AMINO ACID SEQUENCE; ANIMAL; BONE DEVELOPMENT; CELL STRAIN 3T3; GENETICS; METABOLISM; MOLECULAR GENETICS; MUTATION;

ANIMALIA; MURINAE; MURINE LEUKEMIA VIRUS; POLYOMAVIRUS;

3T3 CELLS; AMINO ACID SEQUENCE; ANIMALS; CLEIDOCRANIAL DYSPLASIA; CORE BINDING FACTOR ALPHA 1 SUBUNIT; DNA-BINDING PROTEINS; HUMANS; MICE; MOLECULAR SEQUENCE DATA; MUTATION; NEOPLASM PROTEINS; OSTEOGENESIS; TRANS-ACTIVATION (GENETICS); TRANSCRIPTION FACTORS;

EID: 0034641617     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.180309597     Document Type: Article

References (43)

1. Ito, Y. (1999) Gene Cells 4, 685-696.
2. Speck, N. A. & Stacy, T. (1995) Crit. Rev. Eukaryotic Gene Expression 5, 337-364.
3. Kamachi, Y., Ogawa, E., Asano, M., Ishida, S., Murakami, Y., Satake, M., Ito, Y. & Shigesada, K. (1990) J. Virol. 64, 4808-4819.
4. Ogawa, E., Maruyama, M., Kagoshima, H., Inuzuka, M., Lu, J., Satake, M., Shigesada, K. & Ito, Y. (1993) Proc. Natl. Acad. Sci. USA 90, 6859-6863.
5. Zhang, Y.-W., Bae, S.-C., Takahashi, E. & Ito, Y. (1997) Oncogene 15, 367-371.
6. Miyoshi, H., Shimizu, K., Maseki, N., Kaneko, Y. & Ohki, M. (1991) Proc. Natl. Acad. Sci. USA 88, 10431-10434.
7. Bae, S. C., Yamaguchi-Iwai, Y., Ogawa, E., Maruyama, M., Inuzuka, M., Kagoshima, H., Shigesada, K., Satake, M. & Ito, Y. (1993) Oncogene 8, 809-814.
8. Bae, S.-C., Ogawa, E., Maruyama, M., Oka, H., Satake, M., Shigesada, K., Jenkins, N. A., Gilbert, D. J., Copeland, N. G. & Ito, Y. (1994) Mol. Cell. Biol. 14, 3242-3252.
9. Bae, S. C., Takahashi, E., Zhang, Y. W., Ogawa, E., Shigesada, K., Namba, Y., Satake, M. & Ito, Y. (1995) Gene 159, 245-248.
10. Levanon, D., Negreanu, V., Bernstein, Y., Bar-Am, I., Avivi, L. & Groner, Y. (1994) Genomics 23, 425-432.
11. Wijimenga, C., Speck, N. A., Dracopoli, N. C., Hofker, M. H., Liu, P. & Collins, F. S. (1995) Genomics 26, 611-614.
12. Kagoshima, H., Shigesada, K., Satake, M., Ito, Y., Miyoshi, H., Ohki, M., Pepling, M. & Gergen, P. (1993) Trends Genet. 9, 338-341.
13. Kania, M. A., Bonner, A. S., Duffy, J. B. & Gergen, J. P. (1990) Genes Dev. 4, 1701-1713.
14. Daga, A., Kariovich, C. A., Dumstrei, K. & Banerjee, U. (1996) Genes Dev. 10, 1194-1205.
15. Rodan, G. A. & Harada, S. (1997) Cell 89, 677-680.
16. Komori, T., Yagi, H., Nomura, S., Yamaguchi, A., Sasaki, K., Deguchi, K., Shimizu, Y., Bronson, R. T., Gao, Y.-H., Inada, M., et al. (1997) Cell 89, 755-764.
17. Otto, F., Thornell, A. P., Crompton, T., Denzel, A., Gilmour, K. C., Rosewell, I. R., Stamp, G. W. H., Beddington, R. S. P., Mundlos, S., Olsen, B. R., et al. (1997) Cell 89, 765-771.
18. Lee, B., Thirunavukkarasu, K., Zhou, L., Pastore, L., Baldini, A., Hecht, J., Geoffroy, V., Ducy, P. & Karsenty, G. (1997) Nat. Genet. 16, 307-310.
19. Mundlos, S., Mulliken, J. B., Abramson, D. L., Warman, M. L., Knoll, J. H. M. & Olsen, B. R. (1995) Hum. Mol. Genet. 4, 71-75.
20. Jones, K. L. (1997) Smith's Recognizable Patterns of Human Malformation (Saunders, Philadelphia).
21. Selby, P. B. & Selby, P. R. (1978) Mutat. Res. 51, 199-236.
22. Mundlos, S., Huang, L. F., Selby, P. & Olsen, B. R. (1996) Ann. N.Y. Acad. Sci. 785, 301-302.
23. Mundlos, S., Otto, F., Mundlos, C., Mulliken, J. B., Aylsworth, A. S., Albright, S., Lindhout, D., Cole, W. G., Henn, W., Knoll, J. H. M., et al. (1997) Cell 89, 773-779.
24. Zhang, Y.-W., Yasui, N., Kakazu, N., Abe, T., Takada, K., Imai, S., Sato, M., Nomura, S., Ochi, T., Okuzumi, S., et al. (2000) Gene 244, 21-28.
25. Heldin, C.-H., Miyazono, K. & ten Dijke, P. (1997) Nature (London) 390, 465-471.
26. Attisano, L. & Wrana, J. L. (1998) Curr. Opin. Cell Biol. 10, 188-194.
27. Massague, J. (1998) Annu. Rev. Biochem. 67, 753-791.
28. Derynck, R., Zhang, Y. & Feng, X.-H. (1998) Cell 95, 737-740.
29. Ausubel, F. M., Brent, R., Kingston, R. E., Moore, D. D., Seidman, J. G., Smith, J. A. & Strahl, K. (1994) Current Protocols in Molecular Biology (Wiley, New York).
30. Mizushima, S. & Nagata, S. (1990) Nucleic Acids Res. 18, 5322.
31. Stewart, M., Terry, A., Hu, M., O'Hara, M., Blyth, K., Baxter, E., Cameron, E., Onions, D. E. & Neil, J. C. (1997) Proc. Natl. Acad. Sci. USA 94, 8646-8651.
32. Kanno, T., Kanno, Y., Chen, L. F., Ogawa, E., Kim, W. Y. & Ito, Y. (1998) Mol. Cell. Biol. 18, 2444-2454.
33. Towler, D. A., Rutledge, S. J. & Rodan, G. A. (1994) Mol. Endocrinol. 8, 1484-1493.
34. Javed, A., Gutierrez, S., Montecino, M., van Wijnen, A. J., Stein, J. L., Stein, G. S. & Lian, J. (1999) Mol. Cell. Biol. 19, 7491-7500.
35. Imamura, T., Takase, M., Nishihara, A., Oeda, E., Hanai, J., Kawabata, M. & Miyazono, K. (1997) Nature (London) 389, 622-626.
36. Kawabata, M., Inoue, H., Hanyu, A., Imamura, T. & Miyazono, K. (1998) EMBO J. 17, 4056-4065.
37. Hanai, J.-I., Chen, L. F., Kanno, T., Ohtani-Fujita, N., Kim, W. Y., Guo, W.-H., Imamura, T., Ishidou, Y., Fukuchi, M., Shi, M.-J., et al. (1999) J. Biol. Chem. 274, 31577-31582.
38. Lu, J., Maruyama, M., Satake, M., Bae, S.-C., Ogawa, E., Kagoshima, H., Shigesada, K. & Ito, Y. (1995) Mol. Cell. Biol. 15, 1651-1661.
39. Fujii, M., Takeda, K., Imamura, T., Aoki, H., Sampath, T. K., Enomoto, S., Kawabata, M., Kato, M., Ichijo, H. & Miyazono, K. (1999) Mol. Biol. Cell 10, 3801-3813.
40. Bonewald, L. F. (1996) Principles of Bone Biology (Academic, San Diego), Vol. 46, pp. 647-659.
41. Hogan, B. L. M. (1996) Genes Dev. 10, 1580-1594.
42. Katagiri, T., Yamaguchi, A., Komaki, M., Abe, E., Takahashi, N., Ikeda, T., Rosen, V., Wozney, J. M., Fujisawa-Sehara, A. & Suda, T. (1994) J. Cell. Biol. 127, 1755-1766.
43. Zhang, Y.-W., Bae, S.-C., Huang, G., Fu, Y.-X., Lu, J., Ahn, M.-Y., Kanno, Y., Kanno, T. & Ito, Y. (1997) Mol. Cell. Biol. 7, 4133-4145.