Rett syndrome-causing mutations in human MeCP2 result in diverse structural changes that impact folding and DNA interactions

Journal of Biological Chemistry

Volumn 283, Issue 29, 2008, Pages 20523-20534

  Ghosh, Rajarshi P ^a   Horowitz Scherer, Rachel A ^a   Nikitina, Tatiana ^a   Gierasch, Lila M ^a   Woodcock, Christopher L ^a  

^a UNIVERSITY OF MASSACHUSETTS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACIDS; ANIMAL CELL CULTURE; BELT DRIVES; BINDING ENERGY; DICHROISM; DNA; GENES; OPTICAL PROPERTIES; ORGANIC ACIDS; PROTEIN FOLDING; PROTEINS; THERMODYNAMIC STABILITY;

AQUEOUS ENVIRONMENTS; CIRCULAR DICHROISMS; DNA BINDINGS; DNA INTERACTIONS; DNA METHYLATIONS; DO-MAINS; HELICAL STRUCTURES; LESSER EXTENTS; MISSENSE MUTATIONS; MUTANT PROTEINS; RETT SYNDROMES; SECONDARY STRUCTURES; SINGLE TRYPTOPHANS; STRUCTURAL CHANGES; THERMAL STABILITIES; WILD TYPES;

NUCLEIC ACIDS;

ARGININE; CYSTEINE; DNA; METHIONINE; METHYL CPG BINDING PROTEIN 2; MUTANT PROTEIN; PHENYLALANINE; THREONINE; TRYPTOPHAN;

ALPHA HELIX; ANIMAL CELL; ARTICLE; CIRCULAR DICHROISM; CONTROLLED STUDY; DNA BINDING; DNA METHYLATION; FLUORESCENCE SPECTROSCOPY; HUMAN; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE BINDING SITE; PRIORITY JOURNAL; PROTEIN CONFORMATION; PROTEIN DNA INTERACTION; PROTEIN DOMAIN; PROTEIN FOLDING; PROTEIN FUNCTION; PROTEIN SECONDARY STRUCTURE; PROTEIN STABILITY; PROTEIN STRUCTURE; RETT SYNDROME; STRAIN DIFFERENCE; STRUCTURE ACTIVITY RELATION; THERMOSTABILITY; WILD TYPE; CHEMICAL STRUCTURE; CHEMISTRY; DNA DENATURATION; GENETICS; METABOLISM; MUTATION; PROTEIN BINDING; PROTEIN TERTIARY STRUCTURE; TEMPERATURE;

CIRCULAR DICHROISM; DNA; HUMANS; METHYL-CPG-BINDING PROTEIN 2; MODELS, MOLECULAR; MUTATION; NUCLEIC ACID DENATURATION; PROTEIN BINDING; PROTEIN FOLDING; PROTEIN STRUCTURE, TERTIARY; RETT SYNDROME; TEMPERATURE;

EID: 50649100922     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M803021200     Document Type: Article

References (64)

1. Klose, R. J., and Bird, A. P. (2006) Trends Biochem. Sci. 31, 91-97
2. Wade, P. A. (2001) BioEssays 23, 1131-1137
3. Nan, X., Meehan, R. R., and Bird, A. (1993) Nucleic Acids Res. 21, 4886-4892
4. Wakefield, R. I. D., Smith, B. O., Nan, X., Free, A., Soteriou, A., Uhrin, D., Bird, A. P., and Barlow, P. N. (1999) J. Mol. Biol. 291, 1055-1065
5. Ho, K. L., McNae, I. W., Schmiedeberg, L., Klose, R. J., Bird, A. P., and Walkinshaw, M. W. (2008) Mol. Cell 29, 525-531
6. Adams, V. H., McBryant, S. J., Wade, P. A., Woodcock, C. L., and Hansen, J. C. (2007) J. Biol. Chem. 282, 15057-15064
7. Nan, X., Campoy, F. J., and Bird, A. (1997) Cell 88, 471-481
8. Jones, P. L., Veenstra, G. J., Wade, P. A., Vermaak, D., Kass, S. U., Landsberger, N., Strouboulis, J., and Wolffe, A. P. (1998) Nat. Genet. 19, 187-191
9. Nan, X., Ng, H. H., Johnson, C. A., Laherty, C. D., Turner, B. M., Eisman, R. N., and Bird, A. (1998) Nature 393, 386-389
10. Yasui, D. H, Peddada, S., Bieda, M. C., Vallero, R. O., Hogart, A., Nagarajan, R. P., Thatcher, K. N., Farnham, P. J., and Lasalle, J. M. (2007) Proc. Natl. Acad. Sci. U. S. A. 104, 19416-19421
11. LaSalle, J. M. (2004) Curr. Top. Dev. Biol. 59, 61-86
12. Bienvenu, T., and Chelly, J. (2006) Nat. Rev. Genet. 7, 415-426
13. Young, J. I., Hong, E. P., Castle, J. C., Crespo-Barreto, J., Bowman, A. B., Rose, M. F., Kang, D., Richman, R., Johnson, J. M., Berget, S., and Zoghbi, H. Y. (2005) Proc. Natl. Acad. Sci. U. S. A. 102, 17551-17558
14. Bernard, D., Gil, J., Dumont, P., Rizzo, S., Monte, D., Quatannens, B., Hudson, D., Visakorpi, T., Fuks, F., and de Launoit, Y. (2006) Oncogene 25, 1358-1366
15. Muller, H. M., Fiegl, H., Goebel, G., Hubalek, M. M., Widschwendter, A., Muller-Holzner, E., Marth, C., and Widschwendter, M. (2003) Br. J. Cancer 89, 1934-1939
16. Sharma, D., Blum, J., Yang, X., Beaulieu, N., Macleod, A. R., and Davidson, N. E. (2005) Mol. Endocrinol. 19, 1714-1751
17. Nagarajan, R. P., Hogart, A. R., Gywe, Y., Martin, M. R., and LaSalle, J. M. (2006) Epigenetics 1, e1-e11
18. Georgel, P. T., Horowitz-Scherer, R. A, Adkins, N., Woodcock, C. L., Wade, P. A., and Hansen, J. C. (2003) J. Biol. Chem. 278, 32181-32188
19. Nikitina, T. N., Shi, X., Ghosh, R., Horowitz-Scherer, R. A., Hansen, J. C., and Woodcock, C. L. (2007) Mol. Cell. Biol. 27, 864-877
20. Nikitina, T. N., Ghosh, R., Horowitz-Scherer, R. A., Hansen, J. C., and Woodcock, C. L. (2007) J. Biol. Chem. 282, 28237-28245
21. Chadwick, L. H., and Wade, P. A. (2007) Curr. Opin. Genet. Dev. 17, 1-5
22. Amir, R. E., den Veyber, I. B., Wan, M., Tran, C. Q., Francke, U., and Zoghbi, H. Y. (1999) Nat. Genet. 23, 185-188
23. Shabazian, M. D., and Zoghbi, H. (2002) Am. J. Hum. Genet. 71, 1259-1272
24. Villard, L. (2007) J. Med. Genet. 44, 417-423
25. Guy, J., Gan, J., Selfridge, J., Cobb, S., and Bird, A. (2007) Science 315, 1143-1147
26. Philippe, C., Villard, L., DeRoux, N., Raynaud, M., Bonnefond, J. P., Pasquier, L., Lesca, G., Mancini, J., Jonveaux, P., Moncla, A., Chelly, J., and Bienvenu, T. (2006) Eur. J. Med. Genet. 49, 9-18
27. Percy, A. K. (2007) J. Child Neurol. 20, 1-7
28. Ohki, I., Shimotake, N., Fujita, N., Jee, J.-G., Ikegami, T., Nakao, M., and Shirakawa, M. (2001) Cell 105, 487-497
29. Del Vecchio, P., Graziano, G., Granata, V., Barone, L. M., Rossi, M., and Manco, G. (2002) Biochem. J. 367, 857-863
30. Whitmore, L., and Wallace, B. A. (2004) Nucleic Acids Res. 32, W668-W673
31. Lobley, A., Whitmore, L., and Wallace, B. A. (2002) Bioinformatics (Oxf.) 18, 211-212
32. Perczel, A., Park, K., and Fasman, G. D. (1992) Anal. Biochem. 203, 83-91
33. Provencher, S. W., and Glockner, J. (1981) Biochemistry 20, 33-37
34. van Stokkum, I. H., Spoelder, H. J., Bloemendal, M., van Grondelle, R., and Groen, P. C. (1990) Anal. Biochem. 191, 110-118
35. Pancoska, P., Bitto, E., Janota, V., Urbanova, M., Gupta, V. P., and Keiderling, T. A. (1995) Protein Sci. 4, 1384-1401
36. Frishman, D., and Argos, P. (1995) Proteins 23, 566-579
37. Kelley, L. A., Gardner, S. P., and Sutcliffe, M. J. (1996) Protein Eng. 9, 1063-1065
38. Lovell, S. C., Word, J. M., Richardson, J. S., and Richardson, D. C. (2000) Proteins 40, 389-408
39. Hinsen, K. (2000) J. Comput. Chem. 21, 79-85
40. Case, D. A., Cheatham, T. E., III, Darden, T., Gohlke, H., Luo, R., Merz, K. M., Onufriev, A., Simmerling, C., Wang, B., and Woods, R. (2005) J. Comput. Chem. 26, 1668-1688
41. Fraczkiewicz, R., and Braun, W. (1998) J. Comp. Chem. 19, 319-333
42. Carpenter, M. L., and Kneale, G. G. (1994) in Methods in Molecular Biology (Kneale, G. G., ed) pp. 313-325, Humana Press, Totowa, NJ
43. Chen, W. G., Chang, Q., Lin, Y., Meissner, A., West, A. E., Griffith, E. C., Jaenisch, R., and Greenberg, M. E. (2003) Science 302, 885-889
44. Martinowich, K., Hattori, D., Wu, H., Fouse, S., He, F., Hu, Y., Fan, G., and Sun, Y. E. (2003) Science 302, 890-893
45. Klose, R. J., Sarraf, S. A., Schmiedeberg, L., McDermott, S. M., Stancheva, I., and Bird, A. P. (2005) Mol. Cell 19, 667-678
46. Fasman, G. D. (1996) Circular Dichroism and the Conformational Analysis of Biomolecules, pp. 69-109, Plenum Press, New York
47. Venyaminov, S., Baikalov, I. A., Shen, Z. M., Wu, C. S., and Yang, J. T. (1993) Anal. Biochem. 214, 17-24
48. Patel, L., Abate, C., and Curran, T. (1990) Nature 347, 572-575
49. Dlakic, M., Grinberg, A. V., Leonard, D. A., and Kerppola, T. K. (2001) EMBO J. 20, 828-840
50. Weiss, M. A., Ellenberger, T., Wobbe, C. R., Lee, J. P., Harrison, S. C., and Struhl, K. (1990) Nature 347, 575-578
51. Wellman, S. E. (1996) Biopolymers 39, 491-501
52. Vila, R., Ponte, I., Collandro, M., Arrondo, J. L. R., Jimenez, M. A., Rico, M., and Suau, P. (2001) J. Biol. Chem. 276, 46429-46435
53. Marchi, M., Guarda, A., Bergo, A., Landsberger, N., Kilstrup-Nielson, C., Ratto, G. M., and Costa, M. (2007) Epigenetics 2, 187-197
54. Kumar, A., Kamboj, S., Malone, B. M., Kudo, S., Twiss, J. L., Czymmek, K. J., LaSalle, J. M., and Schanen, N. C. (2008) J. Cell Sci., 121, 1128-1137
55. Yusufzai, T. M., and Wolffe, A. P. (2000) Nucleic Acids Res. 28, 4172-4179
56. Free, A., Wakefield, R. I. D., Smith, B. O., Dryden, D. T. F., Barlow, P. N., and Bird, A. P. (2001) J. Biol. Chem. 276, 3353-3360
57. Ballestar, E., Yusufzai, T. M., and Wolffe, A. P. (2000) Biochemistry 39, 7100-7106
58. Kudo, S., Nomura, Y., Segawa, M., Fujita, N., Nakao, M., Dragich, J., Schanen, C., and Tamura, M. (2001) Brain Dev. 23, (suppl.) S165-S173
59. Xie, H., Vucetic, S., Iakoucheva, L. M., Oldfield, C. J., Dunker, A. K., Uversky, V. N., and Obradovic, Z. (2007) J. Proteome Res. 6, 1882-1898
60. Ang, H. C., Joerger, A. C., Mayer, S., and Fersht, A. R. (2006) J. Biol. Chem. 281, 21934-21941
61. Joerger, A. C., and Fersht, A. R. (2007) Oncogene 26, 2226-2242
62. Joerger, A. C., Ang, H. C., and Fersht, A. R. (2006) Proc. Natl. Acad. Sci. U. S. A. 103, 15056-15061
63. Wang, W., and el-Deiry, W. S. (2008) Curr. Opin. Oncol. 20, 90-96
64. Kyte, J., and Doolittle, R. F. (1982) J. Mol. Biol. 157, 105-132