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Volumn 40, Issue 7, 2003, Pages 487-493

Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; METHYL CPG BINDING PROTEIN; METHYL CPG BINDING PROTEIN 2; METHYL GROUP; MUTANT PROTEIN; PROTEIN DERIVATIVE; UNCLASSIFIED DRUG;

EID: 0037488244     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.40.7.487     Document Type: Article
Times cited : (67)

References (48)
  • 1
    • 0020507697 scopus 로고
    • A progressive syndrome of autism, dementia, ataxia and loss of purposeful hand use in girls: Rett's syndrome; report of 35 cases
    • Hagberg B, Aicardi J, Dias K, Ramos, O. A progressive syndrome of autism, dementia, ataxia and loss of purposeful hand use in girls: Rett's syndrome; report of 35 cases. Ann Neurol 1983;14:471-9.
    • (1983) Ann Neurol , vol.14 , pp. 471-479
    • Hagberg, B.1    Aicardi, J.2    Dias, K.3    Ramos, O.4
  • 2
    • 0032830639 scopus 로고    scopus 로고
    • Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
    • Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999;23:185-8.
    • (1999) Nat Genet , vol.23 , pp. 185-188
    • Amir, R.E.1    Van Den Veyver, I.B.2    Wan, M.3    Tran, C.Q.4    Francke, U.5    Zoghbi, H.Y.6
  • 3
    • 0033601073 scopus 로고    scopus 로고
    • Methylation-induced repression-belts, braces, and chromatin
    • Bird A, Wolffe AP. Methylation-induced repression-belts, braces, and chromatin. Cell 1999;99:451-4.
    • (1999) Cell , vol.99 , pp. 451-454
    • Bird, A.1    Wolffe, A.P.2
  • 5
    • 0033486062 scopus 로고    scopus 로고
    • Solution structure of the methyl-CpG-binding domain of the methylation-dependent transcriptional repressor MBD1
    • Ohki I, Shimotake N, Fujita N, Nakao M, Shirakawa M. Solution structure of the methyl-CpG-binding domain of the methylation-dependent transcriptional repressor MBD1. EMBO J 1999;18:6653-61.
    • (1999) EMBO J , vol.18 , pp. 6653-6661
    • Ohki, I.1    Shimotake, N.2    Fujita, N.3    Nakao, M.4    Shirakawa, M.5
  • 6
    • 0032574977 scopus 로고    scopus 로고
    • Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex
    • Nan X, Ng HH, Johnson CA, Laherty CD, Turner BM, Eisenman RN, Bird A. Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex. Nature 1998;393:386-9.
    • (1998) Nature , vol.393 , pp. 386-389
    • Nan, X.1    Ng, H.H.2    Johnson, C.A.3    Laherty, C.D.4    Turner, B.M.5    Eisenman, R.N.6    Bird, A.7
  • 8
    • 0035072804 scopus 로고    scopus 로고
    • Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations
    • Shahbazian MD, Zoghbi HY. Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations. Curr Opin Neurol 2000;14:171-6.
    • (2000) Curr Opin Neurol , vol.14 , pp. 171-176
    • Shahbazian, M.D.1    Zoghbi, H.Y.2
  • 9
    • 0035094767 scopus 로고    scopus 로고
    • A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome
    • Guy J, Hendrich B, Holmes M, Martin JE, Bird A. A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nat Genet 2001;27:322-6.
    • (2001) Nat Genet , vol.27 , pp. 322-326
    • Guy, J.1    Hendrich, B.2    Holmes, M.3    Martin, J.E.4    Bird, A.5
  • 10
    • 0035093830 scopus 로고    scopus 로고
    • Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice
    • Chen RZ, Akbarian S, Tudor M, Jaenisch R. Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice. Nat Genet 2001;27:327-31.
    • (2001) Nat Genet , vol.27 , pp. 327-331
    • Chen, R.Z.1    Akbarian, S.2    Tudor, M.3    Jaenisch, R.4
  • 13
  • 15
    • 0035906936 scopus 로고    scopus 로고
    • Solution structure of the methyl-CpG-binding domain of human MBD1 in complex with methylated DNA
    • Ohki I, Shimotake N, Fujita N, Jee JG, Ikegami T, Nakao M, Shirakawa M. Solution structure of the methyl-CpG-binding domain of human MBD1 in complex with methylated DNA. Cell 2001;105:487-97.
    • (2001) Cell , vol.105 , pp. 487-497
    • Ohki, I.1    Shimotake, N.2    Fujita, N.3    Jee, J.G.4    Ikegami, T.5    Nakao, M.6    Shirakawa, M.7
  • 18
    • 0033646967 scopus 로고    scopus 로고
    • Rett syndrome: Methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations
    • Amir RE, Zoghbi H. Rett syndrome: Methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations. Am J Med Genet 2000;97:147-52.
    • (2000) Am J Med Genet , vol.97 , pp. 147-152
    • Amir, R.E.1    Zoghbi, H.2
  • 19
    • 0034701904 scopus 로고    scopus 로고
    • Rett syndrome: Analysis of MECP2 and clinical characterization of 31 patients
    • Huppke P, Laccone F, Kramer N, Engel W, Hanefeld F. Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. Hum Mol Genet 2000;9:1369-75.
    • (2000) Hum Mol Genet , vol.9 , pp. 1369-1375
    • Huppke, P.1    Laccone, F.2    Kramer, N.3    Engel, W.4    Hanefeld, F.5
  • 25
    • 0033860108 scopus 로고    scopus 로고
    • Mutations in the MECP2 gene in a cohort of girls with Rett syndrome
    • Hampson K, Woods CG, Latif F, Webb T. Mutations in the MECP2 gene in a cohort of girls with Rett syndrome. J Med Genet 2000;37:610-12.
    • (2000) J Med Genet , vol.37 , pp. 610-612
    • Hampson, K.1    Woods, C.G.2    Latif, F.3    Webb, T.4
  • 26
    • 0033646567 scopus 로고    scopus 로고
    • Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: Identification of several novel mutations and polymorphisms
    • Buyse IM, Fang P, Hoon KT, Amir RE, Zoghbi HY, Roa BB. Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. Am J Hum Genet 2000;67:1428-36.
    • (2000) Am J Hum Genet , vol.67 , pp. 1428-1436
    • Buyse, I.M.1    Fang, P.2    Hoon, K.T.3    Amir, R.E.4    Zoghbi, H.Y.5    Roa, B.B.6
  • 29
    • 0035118802 scopus 로고    scopus 로고
    • Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions
    • Laccone F, Huppke P, Hanefeld F, Meins M. Mutation spectrum in patients with Rett syndrome in the German population: evidence of hot spot regions. Hum Mutat 2001;17:183-90.
    • (2001) Hum Mutat , vol.17 , pp. 183-190
    • Laccone, F.1    Huppke, P.2    Hanefeld, F.3    Meins, M.4
  • 30
    • 0035076360 scopus 로고    scopus 로고
    • MECP2 mutations in Danish patients with Rett syndrome: High frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern
    • Nielsen JB, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N. MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern. Eur J Hum Genet 2001;9:178-84.
    • (2001) Eur J Hum Genet , vol.9 , pp. 178-184
    • Nielsen, J.B.1    Henriksen, K.F.2    Hansen, C.3    Silahtaroglu, A.4    Schwartz, M.5    Tommerup, N.6
  • 31
    • 0036120178 scopus 로고    scopus 로고
    • Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome
    • Chae JH, Hwang YS, Kim KJ. Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome. J Child Neurol 2002;17:33-6.
    • (2002) J Child Neurol , vol.17 , pp. 33-36
    • Chae, J.H.1    Hwang, Y.S.2    Kim, K.J.3
  • 32
    • 0034711147 scopus 로고    scopus 로고
    • Two affected boys in a Rett syndrome family: Clinical and molecular findings
    • Villard L, Cardoso AK, Chelly PJ, Tardieu PM, Fontes M. Two affected boys in a Rett syndrome family: clinical and molecular findings. Neurology 2000;55:1188-93.
    • (2000) Neurology , vol.55 , pp. 1188-1193
    • Villard, L.1    Cardoso, A.K.2    Chelly, P.J.3    Tardieu, P.M.4    Fontes, M.5
  • 33
    • 0029039194 scopus 로고
    • Tissue-specific transcriptional regulation of human leukosialin (CD43) gene is achieved by DNA methylation
    • Kudo S, Fukuda M. Tissue-specific transcriptional regulation of human leukosialin (CD43) gene is achieved by DNA methylation. J Biol Chem 1995;270:13298-302.
    • (1995) J Biol Chem , vol.270 , pp. 13298-13302
    • Kudo, S.1    Fukuda, M.2
  • 34
    • 0026747761 scopus 로고
    • Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA
    • Lewis JD, Meehan RR, Henzel WJ, Maurer-Fogy I, Jeppesen P, Klein F, Bird A. Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA. Cell 1992;69:905-14.
    • (1992) Cell , vol.69 , pp. 905-914
    • Lewis, J.D.1    Meehan, R.R.2    Henzel, W.J.3    Maurer-Fogy, I.4    Jeppesen, P.5    Klein, F.6    Bird, A.7
  • 35
    • 0029655782 scopus 로고    scopus 로고
    • DNA methylation specifies chromosomal localization of MeCP2
    • Nan X, Tate P, Li E, Bird A. DNA methylation specifies chromosomal localization of MeCP2. Mol Cell Biol 1996;16:414-21.
    • (1996) Mol Cell Biol , vol.16 , pp. 414-421
    • Nan, X.1    Tate, P.2    Li, E.3    Bird, A.4
  • 36
    • 0035313401 scopus 로고    scopus 로고
    • DNA methylation learns to fly
    • Lyko F. DNA methylation learns to fly. Trends in Genet 2001;17:169-72.
    • (2001) Trends in Genet , vol.17 , pp. 169-172
    • Lyko, F.1
  • 37
    • 0031865709 scopus 로고    scopus 로고
    • Methyl-CpG-binding protein MeCP2 represses Sp1-activated transcription of the human leukosialin gene when the promoter is methylated
    • Kudo S. Methyl-CpG-binding protein MeCP2 represses Sp1-activated transcription of the human leukosialin gene when the promoter is methylated. Mol Cell Biol 1998;18:5492-9.
    • (1998) Mol Cell Biol , vol.18 , pp. 5492-5499
    • Kudo, S.1
  • 38
    • 0024276524 scopus 로고
    • Analysis of Sp1 in vivo reveals multiple transcriptional domains, including a novel glutamine-rich activation motif
    • Courey AJ, Tjian R. Analysis of Sp1 in vivo reveals multiple transcriptional domains, including a novel glutamine-rich activation motif. Cell, 1988;55:887-98.
    • (1988) Cell , vol.55 , pp. 887-898
    • Courey, A.J.1    Tjian, R.2
  • 40
    • 0031792779 scopus 로고    scopus 로고
    • Identification and characterization of a family of mammalian methyl-CpG binding proteins
    • Hendrich B, Bird A. Identification and characterization of a family of mammalian methyl-CpG binding proteins. Mol Cell Biol 1998;18:6538-47.
    • (1998) Mol Cell Biol , vol.18 , pp. 6538-6547
    • Hendrich, B.1    Bird, A.2
  • 42
    • 0034691236 scopus 로고    scopus 로고
    • Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA
    • Ballestar E, Yusufzai TM, Wolffe AP. Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA. Biochemistry 2000;39:7100-6.
    • (2000) Biochemistry , vol.39 , pp. 7100-7106
    • Ballestar, E.1    Yusufzai, T.M.2    Wolffe, A.P.3
  • 43
    • 0036849262 scopus 로고    scopus 로고
    • Epigenetic consequences of nucleosome dynamics
    • Abroad K, Henikoff S. Epigenetic consequences of nucleosome dynamics. Cell 2002;111:281-4.
    • (2002) Cell , vol.111 , pp. 281-284
    • Abroad, K.1    Henikoff, S.2
  • 45
    • 0035192492 scopus 로고    scopus 로고
    • Mutation analysis of the methyl-CpG-binding protein 2 gene (MECP2) in Rett patients with preserved speech
    • Yamashita Y, Kondo I, Fukuda T, Morishima R, Kusaga A, Iwanaga R, Matsuishi T. Mutation analysis of the methyl-CpG-binding protein 2 gene (MECP2) in Rett patients with preserved speech. Brain Dev 2001;23:S157-60.
    • (2001) Brain Dev , vol.23
    • Yamashita, Y.1    Kondo, I.2    Fukuda, T.3    Morishima, R.4    Kusaga, A.5    Iwanaga, R.6    Matsuishi, T.7
  • 47
    • 0035889272 scopus 로고    scopus 로고
    • Preserved speech variants of the Rett syndrome: Molecular and clinical analysis
    • Zappella M, Meloni I, Longo I, Hayek G, Renieri A. Preserved speech variants of the Rett syndrome: molecular and clinical analysis. Am J Med Genet 2001;104:14-22.
    • (2001) Am J Med Genet , vol.104 , pp. 14-22
    • Zappella, M.1    Meloni, I.2    Longo, I.3    Hayek, G.4    Renieri, A.5
  • 48


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