Identification of a Dominant Negative Homeodomain Mutation in Rieger Syndrome

Journal of Biological Chemistry

Volumn 276, Issue 25, 2001, Pages 23034-23041

  Saadi, Irfan ^a   Semina, Elena V ^b   Amend, Brad A ^b,d   Harris, David J ^c   Murphy, Kenneth P ^b   Murray, Jeffrey C ^a,b   Russo, Andrew F ^a,b  

^a UNIVERSITY OF IOWA   (United States)

^b UNIVERSITY OF IOWA   (United States)

^c CHILDREN S MERCY HOSPITAL   (United States)

^d UNIVERSITY OF TULSA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GENES; PATIENT TREATMENT; PROTEINS;

HOMEODOMAIN MUTATIONS;

BIOCHEMISTRY;

DNA; GLUTAMIC ACID; HOMEODOMAIN PROTEIN; LYSINE; MUTANT PROTEIN; TRANSCRIPTION FACTOR PIT 1; DNA BINDING PROTEIN; POU1F1 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; DNA TRANSFECTION; GENE MUTATION; GENOTYPE; GLAUCOMA; HOMEOBOX; HUMAN; INFANT; MISSENSE MUTATION; NONHUMAN; ORGANOGENESIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DNA BINDING; RAT; RIEGER SYNDROME; TOOTH DISEASE; TRANSACTIVATION; DOMINANT GENE; GENETICS; METABOLISM; MULTIPLE MALFORMATION SYNDROME; MUTATION; NEWBORN; PROTEIN BINDING; SYNDROME;

ANIMALIA;

ABNORMALITIES, MULTIPLE; DNA; DNA-BINDING PROTEINS; GENES, DOMINANT; HOMEODOMAIN PROTEINS; HUMANS; INFANT, NEWBORN; MUTATION; PROTEIN BINDING; SYNDROME; TRANSCRIPTION FACTOR PIT-1; TRANSCRIPTION FACTORS;

EID: 0035933856     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.M008592200     Document Type: Article

References (36)

1. Semina, E. V., Reiter, R., Leysens, N. J., Alward, L. M., Small, K. W., Datson, N. A., Siegel-Bartelt, J., Bierke-Nelson, D., Bitoun, P., Zabel, B. U., Carey, J. C., and Murray, J. C. (1996) Nat. Genet. 14, 392-399
2. Rieger, H. (1935) Z. Augenheilk 86, 333
3. Yoshioka, H., Meno, C., Koshiba, K., Sugihara, M., Itoh, H., Ishimaru, Y., Inoue, T., Ohuchi, H., Semina, E. V., Murray, J. C., Hamada, H., and Noji, S. (1998) Cell 94, 299-305
4. Lu, M., Pressman, C., Dyer, R., Johnson, R. L., and Martin, J. F. (1999) Nature 401, 276-278
5. Ryan, A. K., Blumberg, B., Rodriguez-Esteban, C., Yonei-Tamura, S., Tamura, K., Tsukui, T., de la Pena, J., Sabbagh, W., Greenwald, J., Choe, S., Norris, D. P., Robertson, E. J., Evans, R. M., Rosenfeld, M. G., and Izpisua Belmonte, J. C. (1998) Nature 394, 545-551
6. Amendt, B. A., Sutherland, L. B., Semina, E. V., and Russo, A. F. (1998) J. Biol. Chem. 273, 20066-20072
7. Duboule, D. (1994) Guidebook to the Homeobox Genes, Oxford University Press, New York
8. Dave, V., Zhao, C., Yang, F., Tung, C., and Ma, J. (2000) Mol. Cell. Biol., 20, 7673-7684
9. Lamonerie, T., Tremblay, J. J., Lanctot, C., Therrien, M., Gauthier, Y., and Drouin, J. (1996) Genes Dev. 10, 1284-1295
10. Szeto, D. P., Ryan, A. K., O'Connell, S. M., and Rosenfeld, M. G. (1996) Proc. Natl. Acad. Sci. U. S. A. 93, 7706-7710
11. Hanes, S. D., and Brent, R. (1989) Cell 57, 1275-1283
12. Treisman, J., Gonczy, P., Vashishtha, M., Harris, E., and Desplan, C. (1989) Cell 59, 553-562
13. Hanes, S. D., and Brent, R. (1991) Science 251, 426-430
14. Qian, Y. Q., Otting, G., Billeter, M., Muller, M., Gehring, W., and Wuthrich, K. (1993) J. Mol. Biol. 234, 1070-1083
15. Kozlowski, K., and Walter, M. A. (2000) Hum. Mol. Genet. 9, 2131-2139
16. Horton, R. M., Ho, S. N., Pullen, J. K., Hunt, H. D., Cai, Z., and Pease, L. T. (1993) Methods Enzymol. 217, 270-279
17. Tverberg, L. A., and Russo, A. F. (1993) J. Biol. Chem. 268, 15965-15973
18. Berman, H. M., Westbrook, J., Feng, Z., Gilliland, G., Bhat, T. N., Weissig, H., Shindyalov, I. N., and Bourne, P. E. (2000) Nucleic Acids Res. 28, 235-242
19. Maurer, R. A., and Notides, A. C. (1987) Mol. Cell. Biol. 7, 4247-4254
20. Rhodes, S. J., and Rosenfeld, M. G. (1996) J. Anim. Sci. 74, 94-106
21. Jacobson, E. M., Li, P., Leon-del-Rio, A., Rosenfeld, M. G., and Agarwal, A. K. (1997) Genes Dev. 11, 198-212
22. Li, S., Crenshaw, E. B., III, Rawson, E. J., Simmons, D. M., Swanson, L. W., and Rosenfeld, M. G. (1990) Nature 347, 528-533
23. Lanigan, T. M., and Russo, A. F. (1997) J. Biol. Chem. 272, 18316-18324
24. Lin, C. R., Kioussi, C., O'Connell, S., Briata, P., Szeto, D., Liu, F., Izpisua-Belmonte, J. C., and Rosenfeld, M. G. (1999) Nature 401, 279-282
25. Gage, P. J., Suh, H., and Camper, S. A. (1999) Development 126, 4643-4651
26. Bellmann, R., and Werr, W. (1992) EMBO J. 11, 3367-3374
27. Amendt, B. A., Sutherland, L. B., and Russo, A. F. (1999) Mol. Cell. Biol. 19, 7001-7010
28. Singh, S., Tang, H. K., and Saunders, G. F. (1998) J. Biol. Chem. 273, 21531-21541
29. Yamagata, K., Yang, Q., Yamamoto, K., Iwahashi, H., Miyagawa, J., Okita, K., Yoshiuchi, I., Miyazaki, J., Noguchi, T., Nakajima, H., Namba, M., Hanafusa, T., and Matsuzawa, Y. (1998) Diabetes 47, 1231-1235
30. Stoffers, D. A., Stanojevic, V., and Habener, J. F. (1998) J. Clin. Invest. 102, 232-241
31. El Ghouzzi, V., Lajeunie, E., Le Merrer, M., Cormier-Daire, V., Renier, D., Munnich, A., and Bonaventure, J. (1999) Eur. J. Hum. Genet. 7, 27-33
32. Howard, T. D., Paznekas, W. A., Green, E. D., Chiang, L. C., Ma, N., Ortiz De Luna, R. I., Delgado, C. G., Gonzalez-Ramos, M., Kline, A. D., and Jabs, E. W. (1997) Nat. Genet. 15, 36-41
33. Baldwin, C. T., Hoth, C. F., Macina, R. A., and Milunsky, A. (1995) Am. J. Med. Genet. 58, 115-122
34. DeStefano, A. L., Cupples, L. A., Arnos, K. S., Asher, J. H., Jr., Baldwin, C. T., Blanton, S., Carey, M. L., da Silva, E. O., Friedman, T. B., Greenberg, J., Lalwani, A. K., Milunsky, A., Nance, W. E., Pandya, A., Ramesar, R. S., Read, A. P., Tassabejhi, M., Wilcox, E. R., and Farrer, L. A. (1998) Hum. Genet. 102, 499-506
35. Prosser, J., and van Heyningen, V. (1998) Hum. Mutat. 11, 93-108
36. Hanson, I., Churchill, A., Love, J., Axton, R., Moore, T., Clarke, M., Meire, F., and van Heyningen, V. (1999) Hum. Mol. Genet. 8, 165-172