메뉴 건너뛰기




Volumn 110, Issue 6, 2002, Pages 545-552

MECP2 mutations in Rett syndrome adversely affect lymphocyte growth, but do not affect imprinted gene expression in blood or brain

Author keywords

[No Author keywords available]

Indexed keywords

HISTONE; HISTONE DEACETYLASE INHIBITOR; METHYL BINDING PROTEIN 3; METHYL CPG BINDING PROTEIN 2; PROTEIN; SMALL NUCLEAR RIBONUCLEOPROTEIN; SMALL NUCLEAR RIBONUCLEOPROTEIN N; TRICHOSTATIN A; UNCLASSIFIED DRUG;

EID: 0036626596     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0724-4     Document Type: Article
Times cited : (65)

References (32)
  • 1
    • 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 (1999) Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl- CpG-binding protein 2. Nat Genet 23:185-188
    • (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
  • 4
    • 0035102791 scopus 로고    scopus 로고
    • Clonal maintenance of imprinted expression of SNRPN and IPW in normal lymphocytes: Correlation with allele-specific methylation of SNRPN intron 1 but not intron 7
    • Balmer D, LaSalle JM (2001) Clonal maintenance of imprinted expression of SNRPN and IPW in normal lymphocytes: Correlation with allele-specific methylation of SNRPN intron 1 but not intron 7. Hum Genet 108:116-122
    • (2001) Hum Genet , vol.108 , pp. 116-122
    • Balmer, D.1    LaSalle, J.M.2
  • 5
    • 0030188404 scopus 로고    scopus 로고
    • Isolation, physical mapping, and northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2
    • D'Esposito M, Quaderi NA, Ciccodicola A, Bruni P, Esposito T, D'Urso M, Brown SD (1996) Isolation, physical mapping, and northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2. Mamm Genome 7:533-535
    • (1996) Mamm Genome , vol.7 , pp. 533-535
    • D'Esposito, M.1    Quaderi, N.A.2    Ciccodicola, A.3    Bruni, P.4    Esposito, T.5    D'Urso, M.6    Brown, S.D.7
  • 6
    • 0032848963 scopus 로고    scopus 로고
    • Rett syndrome: Clinical update and review of recent genetic advances
    • Ellaway C, Christodoulou J (1999) Rett syndrome: Clinical update and review of recent genetic advances. J Paediatr Child Health 35:419-426
    • (1999) J Paediatr Child Health , vol.35 , pp. 419-426
    • Ellaway, C.1    Christodoulou, J.2
  • 8
    • 0035869208 scopus 로고    scopus 로고
    • Association of acetylated histones with paternally expressed genes in the Prader-Willi deletion region
    • Fulmer-Smentek SB, Francke U (2001) Association of acetylated histones with paternally expressed genes in the Prader-Willi deletion region. Hum Mol Genet 10:645-652
    • (2001) Hum Mol Genet , vol.10 , pp. 645-652
    • Fulmer-Smentek, S.B.1    Francke, U.2
  • 9
    • 0032878344 scopus 로고    scopus 로고
    • Genomic structure and chromosomal mapping of the murine and human Mbd1, Mbd2, Mbd3, and Mbd4 genes
    • Hendrich B, Abbott C, McQueen H, Chambers D, Cross S, Bird A (1999) Genomic structure and chromosomal mapping of the murine and human Mbd1, Mbd2, Mbd3, and Mbd4 genes. Mamm Genome 10:906-912
    • (1999) Mamm Genome , vol.10 , pp. 906-912
    • Hendrich, B.1    Abbott, C.2    McQueen, H.3    Chambers, D.4    Cross, S.5    Bird, A.6
  • 11
    • 0034192205 scopus 로고    scopus 로고
    • MeCP2 driven transcriptional repression in vitro: Selectivity for methylated DNA, action at a distance and contacts with the basal transcription machinery
    • (in process citation)
    • Kaludov NK, Wolffe AP (2000) MeCP2 driven transcriptional repression in vitro: Selectivity for methylated DNA, action at a distance and contacts with the basal transcription machinery. Nucleic Acids Res 28:1921-1928 (in process citation)
    • (2000) Nucleic Acids Res , vol.28 , pp. 1921-1928
    • Kaludov, N.K.1    Wolffe, A.P.2
  • 12
    • 0030458551 scopus 로고    scopus 로고
    • Parental imprinting and human disease
    • Lalande M (1996) Parental imprinting and human disease. Annu Rev Genet 30:173-195
    • (1996) Annu Rev Genet , vol.30 , pp. 173-195
    • Lalande, M.1
  • 13
    • 0032539689 scopus 로고    scopus 로고
    • Clonal heterogeneity at allelic methylation sites diagnostic for Prader-Willi and Angelman syndromes
    • LaSalle JM, Ritchie RJ, Glatt H, Lalande M (1998) Clonal heterogeneity at allelic methylation sites diagnostic for Prader-Willi and Angelman syndromes. Proc Natl Acad Sci USA 95:1675-1680
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 1675-1680
    • LaSalle, J.M.1    Ritchie, R.J.2    Glatt, H.3    Lalande, M.4
  • 14
    • 0035880454 scopus 로고    scopus 로고
    • Quantitative localization of heterologous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry
    • LaSalle J, Goldstine J, Balmer D, Greco C (2001) Quantitative localization of heterologous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry. Hum Mol Genet 10:1729-1740
    • (2001) Hum Mol Genet , vol.10 , pp. 1729-1740
    • LaSalle, J.1    Goldstine, J.2    Balmer, D.3    Greco, C.4
  • 15
    • 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 (1992) Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA. Cell 69:905-914
    • (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
  • 16
    • 0027378582 scopus 로고
    • Role for DNA methylation in genomic imprinting
    • Li E, Beard C, Jaenisch R (1993) Role for DNA methylation in genomic imprinting. Nature 366:362-365
    • (1993) Nature , vol.366 , pp. 362-365
    • Li, E.1    Beard, C.2    Jaenisch, R.3
  • 17
    • 0035158019 scopus 로고    scopus 로고
    • Methylation-mediated proviral silencing is associated with MeCP2 recruitment and localized histone H3 deacetylation
    • Lorincz MC, Schubeler D, Groudine M (2001) Methylation-mediated proviral silencing is associated with MeCP2 recruitment and localized histone H3 deacetylation. Mol Cell Biol 21:7913-7922
    • (2001) Mol Cell Biol , vol.21 , pp. 7913-7922
    • Lorincz, M.C.1    Schubeler, D.2    Groudine, M.3
  • 18
    • 0030773594 scopus 로고    scopus 로고
    • The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse
    • MacDonald HR, Wevrick R (1997) The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse. Hum Mol Genet 6:1873-1678
    • (1997) Hum Mol Genet , vol.6 , pp. 1873-1678
    • MacDonald, H.R.1    Wevrick, R.2
  • 19
    • 0026658662 scopus 로고
    • Characterization of MeCP2, A vertebrate DNA binding protein with affinity for methylated DNA
    • Meehan RR, Lewis JD, Bird AP (1992) Characterization of MeCP2, A vertebrate DNA binding protein with affinity for methylated DNA. Nucleic Acids Res 20:5085-5092
    • (1992) Nucleic Acids Res , vol.20 , pp. 5085-5092
    • Meehan, R.R.1    Lewis, J.D.2    Bird, A.P.3
  • 20
    • 0034329247 scopus 로고    scopus 로고
    • Imprinting of insulin-like growth factor 2 is modulated during hematopoiesis
    • Morison IM, Eccles MR, Reeve AE (2000) Imprinting of insulin-like growth factor 2 is modulated during hematopoiesis. Blood 96:3023-3028
    • (2000) Blood , vol.96 , pp. 3023-3028
    • Morison, I.M.1    Eccles, M.R.2    Reeve, A.E.3
  • 21
    • 0342437491 scopus 로고    scopus 로고
    • MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin
    • Nan X, Campoy FJ, Bird A (1997) MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin. Cell 88:471-481
    • (1997) Cell , vol.88 , pp. 471-481
    • Nan, X.1    Campoy, F.J.2    Bird, A.3
  • 22
    • 0029732843 scopus 로고    scopus 로고
    • The proximal regulatory element of the interferon-gamma promoter mediates selective expression in T cells
    • Penix LA, Sweetser MT, Weaver WM, Hoeffler JP, Kerppola TK, Wilson CB (1996) The proximal regulatory element of the interferon-gamma promoter mediates selective expression in T cells. J Biol Chem 271:31964-31972
    • (1996) J Biol Chem , vol.271 , pp. 31964-31972
    • Penix, L.A.1    Sweetser, M.T.2    Weaver, W.M.3    Hoeffler, J.P.4    Kerppola, T.K.5    Wilson, C.B.6
  • 24
    • 0028286005 scopus 로고
    • DNA methylation and genomic imprinting
    • Razin A, Cedar H (1994) DNA methylation and genomic imprinting. Cell 77:473-476
    • (1994) Cell , vol.77 , pp. 473-476
    • Razin, A.1    Cedar, H.2
  • 26
    • 0027535235 scopus 로고
    • Effects of DNA methylation on DNA-binding proteins and gene expression
    • Tate PH, Bird AP (1993) Effects of DNA methylation on DNA-binding proteins and gene expression. Curr Opin Genet Dev 3:226-231
    • (1993) Curr Opin Genet Dev , vol.3 , pp. 226-231
    • Tate, P.H.1    Bird, A.P.2
  • 27
    • 0035339188 scopus 로고    scopus 로고
    • MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome
    • Wan M, Zhao K, Lee SS, Francke U (2001) MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome. Hum Mol Genet 10:1085-1092
    • (2001) Hum Mol Genet , vol.10 , pp. 1085-1092
    • Wan, M.1    Zhao, K.2    Lee, S.S.3    Francke, U.4
  • 28
    • 0029956737 scopus 로고    scopus 로고
    • Increased expression of the insulin-like growth factor-II gene in Wilms' tumor is not dependent on loss of genomic imprinting or loss of heterozygosity
    • Wang WH, Duan JX, Vu TH, Hoffman AR (1996) Increased expression of the insulin-like growth factor-II gene in Wilms' tumor is not dependent on loss of genomic imprinting or loss of heterozygosity. J Biol Chem 271:27863-27870
    • (1996) J Biol Chem , vol.271 , pp. 27863-27870
    • Wang, W.H.1    Duan, J.X.2    Vu, T.H.3    Hoffman, A.R.4
  • 30
    • 0034657578 scopus 로고    scopus 로고
    • Histone deacetylase-independent transcriptional repression by methyl- CpG-binding protein 2
    • Yu F, Thiesen J, Stratling WH (2000) Histone deacetylase-independent transcriptional repression by methyl- CpG-binding protein 2. Nucleic Acids Res 28:2201-2206
    • (2000) Nucleic Acids Res , vol.28 , pp. 2201-2206
    • Yu, F.1    Thiesen, J.2    Stratling, W.H.3
  • 31
    • 0035504192 scopus 로고    scopus 로고
    • Methyl-CpG-binding protein 2 represses LINE-1 expression and retrotransposition but not Alu transcription
    • Yu F, Zingler N, Schumann G, Stratling WH (2001) Methyl-CpG-binding protein 2 represses LINE-1 expression and retrotransposition but not Alu transcription. Nucleic Acids Res 29:4493-4501
    • (2001) Nucleic Acids Res , vol.29 , pp. 4493-4501
    • Yu, F.1    Zingler, N.2    Schumann, G.3    Stratling, W.H.4
  • 32
    • 0025305473 scopus 로고
    • Patterns of X chromosome inactivation in the Rett syndrome
    • Zoghbi HY, Percy AK, Schultz RJ, Fill C (1990) Patterns of X chromosome inactivation in the Rett syndrome. Brain Dev 12:131-135
    • (1990) Brain Dev , vol.12 , pp. 131-135
    • Zoghbi, H.Y.1    Percy, A.K.2    Schultz, R.J.3    Fill, C.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.