A sonic hedgehog missense mutation associated with holoprosencephaly causes defective binding to GAS1

Journal of Biological Chemistry

Volumn 284, Issue 29, 2009, Pages 19169-19172

  Martinelli, David C ^a,b   Fan, Chen Ming ^a  

^a GEOPHYSICAL LABORATORY   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BINDING SURFACE; BIRTH DEFECTS; CELL SURFACES; CLINICAL PRESENTATIONS; HEDGEHOG SIGNALING; IN-VITRO; SIGNALING ACTIVITY; SONIC HEDGEHOGS; WIDE SPECTRUM;

AMINO ACIDS; CELL CULTURE; SIGNALING;

CELL MEMBRANES;

ALANINE; GROWTH ARREST SPECIFIC PROTEIN 1; LYSINE; MEMBRANE PROTEIN; SONIC HEDGEHOG PROTEIN; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; CALCIUM BINDING; CELL STRAIN COS7; CELL SURFACE; CONTROLLED STUDY; EMBRYO; HOLOPROSENCEPHALY; MISSENSE MUTATION; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN PROTEIN INTERACTION; SIGNAL TRANSDUCTION;

ANIMALS; BINDING SITES; CELL CYCLE PROTEINS; CERCOPITHECUS AETHIOPS; COS CELLS; FORELIMB; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HEDGEHOG PROTEINS; HOLOPROSENCEPHALY; KRUPPEL-LIKE TRANSCRIPTION FACTORS; LUCIFERASES; MEMBRANE PROTEINS; MICE; MICE, KNOCKOUT; MODELS, MOLECULAR; MUTATION, MISSENSE; NIH 3T3 CELLS; PROTEIN BINDING; PROTEIN STRUCTURE, TERTIARY; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

ERINACEIDAE;

EID: 67749097999     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.C109.011957     Document Type: Article

References (26)

1. Matsunaga, E., and Shiota, K. (1977) Teratology 16, 261-272
2. Schachter, K. A., and Krauss, R. S. (2008) Curr. Top. Dev. Biol. 84, 139-170
3. Martinelli, D. C., and Fan, C. M. (2007) Genes Dev. 21, 1231-1243
4. Seppala, M., Depew, M. J., Martinelli, D. C., Fan, C. M., Sharpe, P. T., and Cobourne, M. T. (2007) J. Clin. Invest. 117, 1575-1584
5. Lee, C. S., Buttitta, L., and Fan, C. M. (2001) Proc. Natl. Acad. Sci. U.S.A. 98, 11347-11352
6. Martinelli, D. C., and Fan, C. M. (2007) Cell Cycle 6, 2650-2655
7. Chiang, C., Litingtung, Y., Lee, E., Young, K. E., Corden, J. L., Westphal, H., and Beachy, P. A. (1996) Nature 383, 407-413
8. Belloni, E., Muenke, M., Roessler, E., Traverso, G., Siegel-Bartelt, J., Frumkin, A., Mitchell, H. F., Donis-Keller, H., Helms, C., Hing, A. V., Heng, H. H., Koop, B., Martindale, D., Rommens, J. M., Tsui, L. C., and Scherer, S. W. (1996) Nat. Genet. 14, 353-356
9. Nanni, L., Ming, J. E., Bocian, M., Steinhaus, K., Bianchi, D. W., Die-Smulders, C., Giannotti, A., Imaizumi, K., Jones, K. L., Campo, M, D., Martin, R. A., Meinecke, P., Pierpont, M. E., Robin, N. H., Young, I. D., Roessler, E., and Muenke, M. (1999) Hum. Mol. Genet. 8, 2479-2488
10. Odent, S., Atti-Bitach, T., Blayau, M., Mathieu, M., Aug, J., Delezo de, A. L., Gall, J. Y., Le Marec, B., Munnich, A., David, V., and Vekemans, M. (1999) Hum. Mol. Genet. 8, 1683-1689
11. Roessler, E., Belloni, E., Gaudenz, K., Jay, P., Berta, P., Scherer., S. W., Tsui, L. C., and Muenke, M. (1996) Nat. Genet. 14, 357-360
12. Fuse, N., Maiti, T., Wang, B., Porter, J. A., Hall, T. M., Leahy, D. J., and Beachy, P. A. (1999) Proc. Natl. Acad. Sci. U.S.A. 96, 10992-10999
13. Wang, B., Fallon, J. F., and Beachy, P. A. (2000) Cell 100, 473-434
14. Zúñiga, A., Haramis, A. P. McMahon, A. P., and Zeller, R. (1999) Nature 401, 598-602
15. Buttitta, L., Mo, R., Hui, C. C., and Fan, C. M. (2003) Development 130, 6233-6243
16. Tsujita, Y., Muraski, J., Shiraishi, I., Kato, T., Kajstura, J., Anversa, P., and Sussman, M. A. (2006) Proc. Natl. Acad. Sci U.S.A. 103, 11946-11931
17. Hall, T. M., Porter, J. A., Beachy, P. A., and Leahy, D. J. (1995) Nature 378, 212-216
18. Pepinsky, R. B., Zeng, C., Wen, D., Rayhorn, P., Baker, D. P., Williams, K. P., Bixler, S. A., Ambrose, C. M., Garber, E. A., Miatkowski, K., Taylor, F. R., Wang, E. A., and Galdes, A. (1998) J. Biol. Chem. 273, 14037-14045
19. Zhang, W., Kang, J. S., Cole, F., Yi, M. J., and Krauss, R. S. (2006) Dev. Cell 10, 657-665
20. Chuang, P. T., and McMahon, A. P. (1999) Nature 397, 617-621
21. Tenzen, T., Allen, B. L., Cole, F., Kang. J. S., Krauss, R. S., and McMahon, A. P. (2006) Dev. Cell 10, 647-656
22. Yao, S., Lum, L., and Beachy, P. (2006) Cell 125, 343-357
23. Pepinsky, R. B., Rayhorn, P., Day, E. S., Dergay, A., Williams, K. P., Galdes, A., Taylor, F. R., Boriack-Sjodin, P. A., and Garber, E. A. (2000) J. Biol. Chem. 275, 10995-11001
24. Maity, T., Fuse, N., and Beachy, P. A. (2005) Proc. Natl. Acad. Sci. U.S.A. 102, 17026-17031
25. Lee, C. S., and Fan, C. M. (2001) Mech. Dev. 101, 293-297
26. McLellan, J. S., Zheng, X., Hauk, G., Ghirlando, R., Beachy, P. A., and Leahy, D. J. (2008) Nature 455, 979-983