메뉴 건너뛰기




Volumn 16, Issue 3, 2006, Pages 276-281

MeCP2 dysfunction in Rett syndrome and related disorders

Author keywords

[No Author keywords available]

Indexed keywords

METHYL CPG BINDING PROTEIN 2;

EID: 33646683567     PISSN: 0959437X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.gde.2006.04.009     Document Type: Review
Times cited : (224)

References (50)
  • 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., and 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 14 (1983) 471-479
    • (1983) Ann Neurol , vol.14 , pp. 471-479
    • Hagberg, B.1    Aicardi, J.2    Dias, K.3    Ramos, O.4
  • 2
    • 0014011176 scopus 로고
    • On a unusual brain atrophy syndrome in hyperammonemia in childhood
    • Rett A. On a unusual brain atrophy syndrome in hyperammonemia in childhood. Wien Med Wochenschr 116 (1966) 723-726
    • (1966) Wien Med Wochenschr , vol.116 , pp. 723-726
    • Rett, A.1
  • 3
    • 0032830639 scopus 로고    scopus 로고
    • Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
    • Amir R.E., Van den Veyver I.B., Wan M., Tran C.Q., Francke U., and Zoghbi H.Y. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 23 (1999) 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
    • 0036829488 scopus 로고    scopus 로고
    • Rett syndrome. Current status and new vistas
    • Percy A.K. Rett syndrome. Current status and new vistas. Neurol Clin 20 (2002) 1125-1141
    • (2002) Neurol Clin , vol.20 , pp. 1125-1141
    • Percy, A.K.1
  • 5
    • 1642367538 scopus 로고    scopus 로고
    • Rett syndrome: a prototypical neurodevelopmental disorder
    • Neul J.L., and Zoghbi H.Y. Rett syndrome: a prototypical neurodevelopmental disorder. Neuroscientist 10 (2004) 118-128
    • (2004) Neuroscientist , vol.10 , pp. 118-128
    • Neul, J.L.1    Zoghbi, H.Y.2
  • 6
    • 27144435635 scopus 로고    scopus 로고
    • MeCP2 dysfunction in humans and mice
    • Zoghbi H.Y. MeCP2 dysfunction in humans and mice. J Child Neurol 20 (2005) 736-740
    • (2005) J Child Neurol , vol.20 , pp. 736-740
    • Zoghbi, H.Y.1
  • 7
    • 0035072804 scopus 로고    scopus 로고
    • Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations
    • Shahbazian M.D., and Zoghbi H.Y. Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations. Curr Opin Neurol 14 (2001) 171-176
    • (2001) Curr Opin Neurol , vol.14 , pp. 171-176
    • Shahbazian, M.D.1    Zoghbi, H.Y.2
  • 8
    • 2542481314 scopus 로고    scopus 로고
    • The major form of MeCP2 has a novel N-terminus generated by alternative splicing
    • The authors describe the identification of a novel, alternatively spliced isoform of MeCP2. This isoform represents >90% of total MeCP2 in the brain.
    • Kriaucionis S., and Bird A. The major form of MeCP2 has a novel N-terminus generated by alternative splicing. Nucleic Acids Res 32 (2004) 1818-1823. The authors describe the identification of a novel, alternatively spliced isoform of MeCP2. This isoform represents >90% of total MeCP2 in the brain.
    • (2004) Nucleic Acids Res , vol.32 , pp. 1818-1823
    • Kriaucionis, S.1    Bird, A.2
  • 11
    • 8444253290 scopus 로고    scopus 로고
    • Mild overexpression of MeCP2 causes a progressive neurological disorder in mice
    • Here, the authors demonstrate that approximately twofold overexpression of wild type MECP2 under its native promoter is detrimental and causes progressive neurological impairments in the mouse. They suggested that duplications or gain-of-function mutations in MECP2 might underlie human cases of X-linked neurobehavioral disorders.
    • Collins A.L., Levenson J.M., Vilaythong A.P., Richman R., Armstrong D.L., Noebels J.L., David Sweatt J., and Zoghbi H.Y. Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Hum Mol Genet 13 (2004) 2679-2689. Here, the authors demonstrate that approximately twofold overexpression of wild type MECP2 under its native promoter is detrimental and causes progressive neurological impairments in the mouse. They suggested that duplications or gain-of-function mutations in MECP2 might underlie human cases of X-linked neurobehavioral disorders.
    • (2004) Hum Mol Genet , vol.13 , pp. 2679-2689
    • Collins, A.L.1    Levenson, J.M.2    Vilaythong, A.P.3    Richman, R.4    Armstrong, D.L.5    Noebels, J.L.6    David Sweatt, J.7    Zoghbi, H.Y.8
  • 16
    • 0026747761 scopus 로고
    • Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA
    • Lewis J.D., Meehan R.R., Henzel W.J., Maurer-Fogy I., Jeppesen P., Klein F., and Bird A. Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA. Cell 69 (1992) 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
  • 17
    • 0027495467 scopus 로고
    • Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2
    • Nan X., Meehan R.R., and Bird A. Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2. Nucleic Acids Res 21 (1993) 4886-4892
    • (1993) Nucleic Acids Res , vol.21 , pp. 4886-4892
    • Nan, X.1    Meehan, R.R.2    Bird, A.3
  • 18
    • 0029655782 scopus 로고    scopus 로고
    • DNA methylation specifies chromosomal localization of MeCP2
    • Nan X., Tate P., Li E., and Bird A. DNA methylation specifies chromosomal localization of MeCP2. Mol Cell Biol 16 (1996) 414-421
    • (1996) Mol Cell Biol , vol.16 , pp. 414-421
    • Nan, X.1    Tate, P.2    Li, E.3    Bird, A.4
  • 19
    • 24044523177 scopus 로고    scopus 로고
    • DNA binding selectivity of MeCP2 due to a requirement for A/T sequences adjacent to methyl-CpG
    • The authors report on the existence of high-affinity DNA-binding sites of MeCP2 and reveal that genomic sites occupied by MeCP2 and MBD2 (methyl-CpG binding domain 2) in vivo are mutually exclusive.
    • Klose R.J., Sarraf S.A., Schmiedeberg L., McDermott S.M., Stancheva I., and Bird A.P. DNA binding selectivity of MeCP2 due to a requirement for A/T sequences adjacent to methyl-CpG. Mol Cell 19 (2005) 667-678. The authors report on the existence of high-affinity DNA-binding sites of MeCP2 and reveal that genomic sites occupied by MeCP2 and MBD2 (methyl-CpG binding domain 2) in vivo are mutually exclusive.
    • (2005) Mol Cell , vol.19 , pp. 667-678
    • Klose, R.J.1    Sarraf, S.A.2    Schmiedeberg, L.3    McDermott, S.M.4    Stancheva, I.5    Bird, A.P.6
  • 20
    • 0342437491 scopus 로고    scopus 로고
    • MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin
    • Nan X., Campoy F.J., and Bird A. MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin. Cell 88 (1997) 471-481
    • (1997) Cell , vol.88 , pp. 471-481
    • Nan, X.1    Campoy, F.J.2    Bird, A.3
  • 21
    • 0032574977 scopus 로고    scopus 로고
    • Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex
    • Nan X., Ng H.H., Johnson C.A., Laherty C.D., Turner B.M., Eisenman R.N., and Bird A. Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex. Nature 393 (1998) 386-389
    • (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
  • 23
    • 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
    • Kaludov N.K., and Wolffe A.P. 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 (2000) 1921-1928
    • (2000) Nucleic Acids Res , vol.28 , pp. 1921-1928
    • Kaludov, N.K.1    Wolffe, A.P.2
  • 25
    • 0038136913 scopus 로고    scopus 로고
    • Methyl-CpG-binding protein, MeCP2, is a target molecule for maintenance DNA methyltransferase, Dnmt1
    • Kimura H., and Shiota K. Methyl-CpG-binding protein, MeCP2, is a target molecule for maintenance DNA methyltransferase, Dnmt1. J Biol Chem 278 (2003) 4806-4812
    • (2003) J Biol Chem , vol.278 , pp. 4806-4812
    • Kimura, H.1    Shiota, K.2
  • 26
    • 0037423186 scopus 로고    scopus 로고
    • The methyl-CpG-binding protein MeCP2 links DNA methylation to histone methylation
    • Fuks F., Hurd P.J., Wolf D., Nan X., Bird A.P., and Kouzarides T. The methyl-CpG-binding protein MeCP2 links DNA methylation to histone methylation. J Biol Chem 278 (2003) 4035-4040
    • (2003) J Biol Chem , vol.278 , pp. 4035-4040
    • Fuks, F.1    Hurd, P.J.2    Wolf, D.3    Nan, X.4    Bird, A.P.5    Kouzarides, T.6
  • 27
    • 8744229966 scopus 로고    scopus 로고
    • MeCP2 behaves as an elongated monomer that does not stably associate with the Sin3a chromatin remodeling complex
    • The authors demonstrate that MeCP2 purified from rat brain behaves as a monomeric protein with an elongated shape. Only a small fraction of MeCP2 interacts with Sin3a, and the interaction is not stable.
    • Klose R.J., and Bird A.P. MeCP2 behaves as an elongated monomer that does not stably associate with the Sin3a chromatin remodeling complex. J Biol Chem 279 (2004) 46490-46496. The authors demonstrate that MeCP2 purified from rat brain behaves as a monomeric protein with an elongated shape. Only a small fraction of MeCP2 interacts with Sin3a, and the interaction is not stable.
    • (2004) J Biol Chem , vol.279 , pp. 46490-46496
    • Klose, R.J.1    Bird, A.P.2
  • 28
    • 10344250458 scopus 로고    scopus 로고
    • Components of the DNA methylation system of chromatin control are RNA-binding proteins
    • Jeffery L., and Nakielny S. Components of the DNA methylation system of chromatin control are RNA-binding proteins. J Biol Chem 279 (2004) 49479-49487
    • (2004) J Biol Chem , vol.279 , pp. 49479-49487
    • Jeffery, L.1    Nakielny, S.2
  • 29
    • 29144447632 scopus 로고    scopus 로고
    • Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2
    • The authors demonstrate that MeCP2 interacts with the RNA-binding protein YB1 and regulates splicing of reporter minigenes. A mouse model of Rett syndrome demonstrated aberrant RNA splicing patterns.
    • 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., et al. Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2. Proc Natl Acad Sci USA 102 (2005) 17551-17558. The authors demonstrate that MeCP2 interacts with the RNA-binding protein YB1 and regulates splicing of reporter minigenes. A mouse model of Rett syndrome demonstrated aberrant RNA splicing patterns.
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 17551-17558
    • Young, J.I.1    Hong, E.P.2    Castle, J.C.3    Crespo-Barreto, J.4    Bowman, A.B.5    Rose, M.F.6    Kang, D.7    Richman, R.8    Johnson, J.M.9    Berget, S.10
  • 30
    • 0035093830 scopus 로고    scopus 로고
    • Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice
    • Chen R.Z., Akbarian S., Tudor M., and Jaenisch R. Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice. Nat Genet 27 (2001) 327-331
    • (2001) Nat Genet , vol.27 , pp. 327-331
    • Chen, R.Z.1    Akbarian, S.2    Tudor, M.3    Jaenisch, R.4
  • 31
    • 0035094767 scopus 로고    scopus 로고
    • A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome
    • Guy J., Hendrich B., Holmes M., Martin J.E., and Bird A. A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nat Genet 27 (2001) 322-326
    • (2001) Nat Genet , vol.27 , pp. 322-326
    • Guy, J.1    Hendrich, B.2    Holmes, M.3    Martin, J.E.4    Bird, A.5
  • 33
    • 12744261491 scopus 로고    scopus 로고
    • Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome
    • Moretti P., Bouwknecht J.A., Teague R., Paylor R., and Zoghbi H.Y. Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome. Hum Mol Genet 14 (2005) 205-220
    • (2005) Hum Mol Genet , vol.14 , pp. 205-220
    • Moretti, P.1    Bouwknecht, J.A.2    Teague, R.3    Paylor, R.4    Zoghbi, H.Y.5
  • 36
    • 29144440149 scopus 로고    scopus 로고
    • Hippocampal synaptic plasticity is impaired in the Mecp2-null mouse model of Rett syndrome
    • The authors describe synaptic plasticity deficits in the hippocampus of Mecp2 knockout mice.
    • Asaka Y., Jugloff D.G., Zhang L., Eubanks J.H., and Fitzsimonds R.M. Hippocampal synaptic plasticity is impaired in the Mecp2-null mouse model of Rett syndrome. Neurobiol Dis 21 (2006) 217-227. The authors describe synaptic plasticity deficits in the hippocampus of Mecp2 knockout mice.
    • (2006) Neurobiol Dis , vol.21 , pp. 217-227
    • Asaka, Y.1    Jugloff, D.G.2    Zhang, L.3    Eubanks, J.H.4    Fitzsimonds, R.M.5
  • 37
    • 24644490120 scopus 로고    scopus 로고
    • Reduced cortical activity due to a shift in the balance between excitation and inhibition in a mouse model of Rett syndrome
    • This study demonstrates reduced cortical activity in Mecp2 knockout mice.
    • Dani V.S., Chang Q., Maffei A., Turrigiano G.G., Jaenisch R., and Nelson S.B. Reduced cortical activity due to a shift in the balance between excitation and inhibition in a mouse model of Rett syndrome. Proc Natl Acad Sci USA 102 (2005) 12560-12565. This study demonstrates reduced cortical activity in Mecp2 knockout mice.
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 12560-12565
    • Dani, V.S.1    Chang, Q.2    Maffei, A.3    Turrigiano, G.G.4    Jaenisch, R.5    Nelson, S.B.6
  • 38
    • 7244243971 scopus 로고    scopus 로고
    • MECP2 is progressively expressed in post-migratory neurons and is involved in neuronal maturation rather than cell fate decisions
    • Kishi N., and Macklis J.D. MECP2 is progressively expressed in post-migratory neurons and is involved in neuronal maturation rather than cell fate decisions. Mol Cell Neurosci 27 (2004) 306-321
    • (2004) Mol Cell Neurosci , vol.27 , pp. 306-321
    • Kishi, N.1    Macklis, J.D.2
  • 43
    • 1942533500 scopus 로고    scopus 로고
    • Expression of MeCP2 in postmitotic neurons rescues Rett syndrome in mice
    • The authors show that expression of MeCP2 in post-mitotic neurons rescues the phenotypic abnormalities of Mecp2 knockout mice.
    • Luikenhuis S., Giacometti E., Beard C.F., and Jaenisch R. Expression of MeCP2 in postmitotic neurons rescues Rett syndrome in mice. Proc Natl Acad Sci USA 101 (2004) 6033-6038. The authors show that expression of MeCP2 in post-mitotic neurons rescues the phenotypic abnormalities of Mecp2 knockout mice.
    • (2004) Proc Natl Acad Sci USA , vol.101 , pp. 6033-6038
    • Luikenhuis, S.1    Giacometti, E.2    Beard, C.F.3    Jaenisch, R.4
  • 44
    • 0037180492 scopus 로고    scopus 로고
    • Transcriptional profiling of a mouse model for Rett syndrome reveals subtle transcriptional changes in the brain
    • Tudor M., Akbarian S., Chen R.Z., and Jaenisch R. Transcriptional profiling of a mouse model for Rett syndrome reveals subtle transcriptional changes in the brain. Proc Natl Acad Sci USA 99 (2002) 15536-15541
    • (2002) Proc Natl Acad Sci USA , vol.99 , pp. 15536-15541
    • Tudor, M.1    Akbarian, S.2    Chen, R.Z.3    Jaenisch, R.4
  • 46
    • 0242300612 scopus 로고    scopus 로고
    • DNA methylation-related chromatin remodeling in activity-dependent BDNF gene regulation
    • Martinowich K., Hattori D., Wu H., Fouse S., He F., Hu Y., Fan G., and Sun Y.E. DNA methylation-related chromatin remodeling in activity-dependent BDNF gene regulation. Science 302 (2003) 890-893
    • (2003) Science , vol.302 , pp. 890-893
    • Martinowich, K.1    Hattori, D.2    Wu, H.3    Fouse, S.4    He, F.5    Hu, Y.6    Fan, G.7    Sun, Y.E.8
  • 47
    • 14044252235 scopus 로고    scopus 로고
    • Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3
    • Samaco R.C., Hogart A., and LaSalle J.M. Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3. Hum Mol Genet 14 (2005) 483-492
    • (2005) Hum Mol Genet , vol.14 , pp. 483-492
    • Samaco, R.C.1    Hogart, A.2    LaSalle, J.M.3
  • 48
    • 11244328520 scopus 로고    scopus 로고
    • Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome
    • The authors describe disruption of a MeCP2-mediated chromatin looping structure at the Dlx5-Dlx6 locus in Mecp2 knockout mice and demonstrate that formation of a silent-chromatin loop is a mechanism underlying gene regulation by MeCP2.
    • Horike S., Cai S., Miyano M., Cheng J.F., and Kohwi-Shigematsu T. Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome. Nat Genet 37 (2005) 31-40. The authors describe disruption of a MeCP2-mediated chromatin looping structure at the Dlx5-Dlx6 locus in Mecp2 knockout mice and demonstrate that formation of a silent-chromatin loop is a mechanism underlying gene regulation by MeCP2.
    • (2005) Nat Genet , vol.37 , pp. 31-40
    • Horike, S.1    Cai, S.2    Miyano, M.3    Cheng, J.F.4    Kohwi-Shigematsu, T.5
  • 50
    • 31444434393 scopus 로고    scopus 로고
    • The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression
    • Chang Q., Khare G., Dani V., Nelson S., and Jaenisch R. The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression. Neuron 49 (2006) 341-348
    • (2006) Neuron , vol.49 , pp. 341-348
    • Chang, Q.1    Khare, G.2    Dani, V.3    Nelson, S.4    Jaenisch, R.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.