Dominant negative dimerization of a mutant homeodomain protein in Axenfeld-Rieger syndrome

Molecular and Cellular Biology

Volumn 23, Issue 6, 2003, Pages 1968-1982

  Saadi, Irfan ^a   Kuburas, Adisa ^a   Engle, Jamison J ^a   Russo, Andrew F ^a  

^a UNIVERSITY OF IOWA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GALACTOSIDASE; GLUTATHIONE TRANSFERASE; HOMEODOMAIN PROTEIN; MUTANT PROTEIN; TRANSCRIPTION FACTOR PITX2; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CARBOXY TERMINAL SEQUENCE; CONTROLLED STUDY; DIMERIZATION; GEL MOBILITY SHIFT ASSAY; GENE DELETION; GENE MUTATION; MISSENSE MUTATION; NONHUMAN; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN DNA BINDING; REPORTER GENE; RIEGER SYNDROME; TRANSACTIVATION; TWO HYBRID SYSTEM;

ABNORMALITIES, MULTIPLE; AMINO ACID SUBSTITUTION; ANIMALS; CELLS, CULTURED; CHO CELLS; CODON; CRANIOFACIAL ABNORMALITIES; CRICETINAE; CRICETULUS; DIMERIZATION; DNA; DNA, COMPLEMENTARY; ELECTROPHORETIC MOBILITY SHIFT ASSAY; GENES, DOMINANT; GENES, HOMEOBOX; GENES, REPORTER; GLAUCOMA; HOMEODOMAIN PROTEINS; HUMANS; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; NUCLEAR PROTEINS; OLIGODEOXYRIBONUCLEOTIDES; PROTEIN BINDING; RECOMBINANT FUSION PROTEINS; STRUCTURE-ACTIVITY RELATIONSHIP; SYNDROME; TRANSCRIPTION FACTORS; TWO-HYBRID SYSTEM TECHNIQUES;

ANIMALIA;

EID: 0037370451     PISSN: 02707306     EISSN: None     Source Type: Journal    
DOI: 10.1128/MCB.23.6.1968-1982.2003     Document Type: Article

References (40)

1. Ades, S. E., and R. T. Sauer. 1994. Differential DNA-binding specificity of the engrailed homeodomain: the role of residue 50. Biochemistry, 33:9187-9194.
2. Amendt, B. A., L. B. Sutherland, and A. F. Russo. 1999. Multifunctional role of the Pitx2 homeodomain protein C-terminal tail. Mol. Cell. Biol. 19:7001-7010.
3. Amendt, B. A., L. B. Sutherland, and A. F. Russo. 1999. Transcriptional antagonism between Hmx1 and Nkx2.5 for a shared DNA-binding site. J. Biol. Chem. 274:11635-11642.
4. Amendt, B. A., L. B. Sutherland, E. V. Semina, and A. F. Russo. 1998. The molecular basis of Rieger syndrome. Analysis of Pitx2 homeodomain protein activities. J. Biol. Chem. 273:20066-20072.
5. Blackwell, T. K., and H. Weintraub. 1990. Differences and similarities in DNA-binding preferences of MyoD and E2A protein complexes revealed by binding site selection. Science 250:1104-1110.
6. Burz, D. S., and S. D. Hanes. 2001. Isolation of mutations that disrupt cooperative DNA binding by the Drosophila bicoid protein. J. Mol. Biol. 305:219-230.
7. Duboule, D. 1994. Guidebook to the homeobox genes. Oxford University Press, Oxford, United Kingdom.
8. Furukawa, K., T. Iioka, M. Morishita, A. Yamaguchi, H. Shindo, H. Namba, S. Yamashita, and T. Tsukazaki. 2002. Functional domains of paired-like homeoprotein Cartl and the relationship between dimerization and transcription activity. Genes Cells 7:1135-1147.
9. Gage, P. J., and S. A. Camper. 1997. Pituitary homeobox 2, a novel member of the bicoid-related family of homeobox genes, is a potential regulator of anterior structure formation. Hum. Mol. Genet. 6:457-464.
10. Gage, P. J., H. Suh, and S. A. Camper. 1999. Dosage requirement of Pitx2 for development of multiple organs. Development 126:4643-4651.
11. Gehring, W. J., M. Affolter, and T. Burglin. 1994. Homeodomain proteins. Annu. Rev. Biochem. 63:487-526.
12. a. Green, P. D., T. A. Hjalt, D. E. Kirk, L. B. Sutherland, B. L. Thomas, P. T. Sharpe, M. L. Snead, J. C. Murray, A. F. Russo, and B. A. Amendt. 2001. Antagonistic regulation of Dlx2 expression by PITX2 and Msx2: implications for tooth development. Gene Expr. 9:265-281.
13. Hanes, S. D., and R. Brent. 1989. DNA specificity of the bicoid activator protein is determined by homeodomain recognition helix residue 9. Cell 57:1275-1283.
14. Horton, R. M., S. N. Ho, J. K. Pullen, H. D. Hunt, Z. Cai, and L. R. Pease. 1993. Gene splicing by overlap extension. Methods Enzymol. 217:270-279.
15. Kasahara, H., A. Usheva, T. Ueyama, H. Aoki, N. Horikoshi, and S. Izumo. 2001. Characterization of homo- and heterodimerization of cardiac Csx/ Nkx2.5 homeoprotein. J. Biol. Chem. 276:4570-4580.
16. Kitamura, K., H. Miura, M. Yanazawa, T. Miyashita, and K. Kato. 1997. Expression patterns of Brx1 (Rieg gene), Sonic hedgehog, Nkx2.2, Dlx1 and Arx during zona limitans intrathalamica and embryonic ventral lateral geniculate nuclear formation. Mech. Dev. 67:83-96.
17. Lamonerie, T., J. J. Tremblay, C. Lanctot, M. Therrien, Y. Gauthier, and J. Drouin. 1996. Ptx1, a bicoid-related homeo box transcription factor involved in transcription of the pro-opiomelanocortin gene. Genes Dev. 10:1284-1295.
18. Lanigan, T. M., and A. F. Russo. 1997. Binding of upstream stimulatory factor and a cell-specific activator to the calcitonin/calcitonin gene-related peptide enhancer. J. Biol. Chem. 272:18316-18324.
19. Li, T., M. R. Stark, A. D. Johnson, and C. Wolberger. 1995. Crystal structure of the MATa1/MAT alpha 2 homeodomain heterodimer bound to DNA. Science 270:262-269.
20. Lin, C. R., C. Kioussi, S. O'Connell, P. Briata, D. Szeto, F. Liu, J. C. Izpisua-Belmonte, and M. G. Rosenfeld. 1999. Pitx2 regulates lung asymmetry, cardiac positioning and pituitary, and tooth morphogenesis. Nature 401:279-282.
21. Lu, M. F., C. Pressman, R. Dyer, R. L. Johnson, and J. F. Martin. 1999. Function of Rieger syndrome gene in left-right asymmetry and craniofacial development. Nature 401:276-278.
22. Ma, X., D. Yuan, K. Diepold, T. Scarborough, and J. Ma. 1996. The Drosophila morphogenetic protein Bicoid binds DNA cooperatively. Development 122:1195-1206.
23. Mathias, J. R., H. Zhong, Y. Jin, and A. K. Vershon. 2001. Altering the DNA-binding specificity of the yeast Mat alpha 2 homeodomain protein. J. Biol. Chem. 276:32696-32703.
24. Maurer, R. A., and A. C. Notides. 1987. Identification of an estrogen-responsive element from the 5′-flanking region of the rat prolactin gene. Mol. Cell. Biol. 7:4247-4254.
25. Phelan, M. L., I. Rambaldi, and M. S. Featherstone. 1995. Cooperative interactions between HOX and PBX proteins mediated by a conserved peptide motif. Mol. Cell. Biol. 15:3989-3997.
26. Pomerantz, J. L., T. M. Kristie, and P. A. Sharp. 1992. Recognition of the surface of a homeo domain protein. Genes Dev. 6:2047-2057.
27. Priston, M., K. Kozlowski, D. Gill, K. Letwin, Y. Buys, A. V. Levin, M. A. Walter, and E. Heon. 2001. Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome. Hum. Mol. Genet. 10:1631-1638.
28. Quentien, M. H., F. Pitoia, G. Gunz, M. P. Guillet, A. Enjalbert, and I. Pellegrini. 2002. Regulation of prolactin, GH, and Pit-1 gene expression in anterior pituitary by Pitx2: an approach using Pitx2 mutants. Endocrinology 143:2839-2851.
29. Rieger, H. 1935. Dysgenesis mesodermalis coreneal et iridis. Z. Augenheilk 86:333.
30. Saadi, I., E. V. Semina, B. A. Amendt, D. J. Harris, K. P. Murphy, J. C. Murray, and A. F. Russo. 2001. Identification of a dominant negative homeodomain mutation in Rieger syndrome. J. Biol. Chem. 276:23034-23041.
31. Semina, E. V., R. Reiter, N. J. Leysens, W. L. Alward, K. W. Small, N. A. Datson, J. Siegel-Bartelt, D. Bierke-Nelson, P. Bitoun, B. U. Zabel, J. C. Carey, and J. C. Murray. 1996. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat. Genet. 14:392-399.
32. Szeto, D. P., A. K. Ryan, S. M. O'Connell, and M. G. Rosenfeld. 1996. P-OTX: a PIT-1-interacting homeodomain factor expressed during anterior pituitary gland development. Proc. Natl. Acad. Sci. USA 93:7706-7710.
33. Treisman, J., P. Gonczy, M. Vashishtha, E. Harris, and C. Desplan. 1989. A single amino acid can determine the DNA binding specificity of homeodomain proteins. Cell 59:553-562.
34. Tverberg, L. A., and A. F. Russo. 1993. Regulation of the calcitonin/calcitonin gene-related peptide gene by cell-specific synergy between helix-loop-helix and octamer-binding transcription factors. J. Biol. Chem. 268:15965-15973.
35. Voss, J. W., L. Wilson, and M. G. Rosenfeld. 1991. POU-domain proteins Pit-1 and Oct-1 interact to form a heteromeric complex and can cooperate to induce expression of the prolactin promoter. Genes Dev. 5:1309-1320.
36. Wilson, D., G. Sheng, T. Lecuit, N. Dostatni, and C. Desplan. 1993. Cooperative dimerization of paired class homeo domains on DNA. Genes Dev. 7:2120-2134.
37. Wolberger, C. 1996. Homeodomain interactions. Curr. Opin. Struct. Biol. 6:62-68.
38. Yuan, D., X. Ma, and J. Ma. 1999. Recognition of multiple patterns of DNA sites by Drosophila homeodomain protein Bicoid. J. Biochem (Tokyo) 125:809-817.
39. Yuan, D., X. Ma, and J. Ma. 1996. Sequences outside the homeodomain of bicoid are required for protein-protein interaction. J. Biol. Chem. 271:21660-21665.
40. Zhang, H., G. Hu, H. Wang, P. Sciavolino, N. Iler, M. M. Shen, and C. Abate-Shen. 1997. Heterodimerization of Msx and Dlx homeoproteins results in functional antagonism. Mol. Cell. Biol. 17:2920-2932.