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Volumn 16, Issue 5, 2015, Pages 261-274

Rett syndrome: A complex disorder with simple roots

Author keywords

[No Author keywords available]

Indexed keywords

METHYL CPG BINDING PROTEIN 2; DNA; MECP2 PROTEIN, HUMAN; MECP2 PROTEIN, MOUSE; PROTEIN BINDING; TRANSACTIVATOR PROTEIN;

EID: 84928207237     PISSN: 14710056     EISSN: 14710064     Source Type: Journal    
DOI: 10.1038/nrg3897     Document Type: Review
Times cited : (254)

References (149)
  • 1
    • 0014011176 scopus 로고
    • On a unusual brain atrophy syndrome in hyperammonemia in childhood
    • in German
    • Rett A. [On a unusual brain atrophy syndrome in hyperammonemia in childhood]. Wien. Med. Wochenschr. 116, 723-726 (in German) (1966
    • (1966) Wien. Med. Wochenschr , vol.116 , pp. 723-726
    • Rett, A.1
  • 2
    • 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. 14, 471-479 (1983
    • (1983) Ann. Neurol , vol.14 , pp. 471-479
    • Hagberg, B.1    Aicardi, J.2    Dias, K.3    Ramos, O.4
  • 3
    • 78650903501 scopus 로고    scopus 로고
    • Rett syndrome: Revised diagnostic criteria and nomenclature
    • Neul J. L., et al. Rett syndrome: revised diagnostic criteria and nomenclature. Ann. Neurol. 68, 944-950 (2010
    • (2010) Ann. Neurol , vol.68 , pp. 944-950
    • Neul, J.L.1
  • 4
    • 78650914440 scopus 로고    scopus 로고
    • Rett syndrome diagnostic criteria: Lessons from the Natural History Study
    • Percy A. K., et al. Rett syndrome diagnostic criteria: lessons from the Natural History Study. Ann. Neurol. 68, 951-955 (2010
    • (2010) Ann. Neurol , vol.68 , pp. 951-955
    • Percy, A.K.1
  • 6
    • 0035013739 scopus 로고    scopus 로고
    • Mecp2 mutations in sporadic cases of rett syndrome are almost exclusively of paternal origin
    • Trappe R., et al. MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin. Am. J. Hum. Genet. 68, 1093-1101 (2001
    • (2001) Am. J. Hum. Genet , vol.68 , pp. 1093-1101
    • Trappe, R.1
  • 7
    • 34447297311 scopus 로고    scopus 로고
    • Mecp2 mutations in males
    • Villard L. MECP2 mutations in males. J. Med. Genet. 44, 417-423 (2007
    • (2007) J. Med. Genet , vol.44 , pp. 417-423
    • Villard, L.1
  • 8
    • 85047697344 scopus 로고    scopus 로고
    • Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy
    • Topçu M., et al. Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy. Eur. J. Hum. Genet. 10, 77-81 (2002
    • (2002) Eur. J. Hum. Genet , vol.10 , pp. 77-81
    • Topçu, M.1
  • 9
    • 0034891348 scopus 로고    scopus 로고
    • Rett syndrome in a boy with a 47 xxy karyotype confirmed by a rare mutation in the mecp2 gene
    • Schwartzman J. S., Bernardino A., Nishimura A., Gomes R. R. & Zatz M. Rett syndrome in a boy with a 47, XXY karyotype confirmed by a rare mutation in the MECP2 gene. Neuropediatrics 32, 162-164 (2001
    • (2001) Neuropediatrics , vol.32 , pp. 162-164
    • Schwartzman, J.S.1    Bernardino, A.2    Nishimura, A.3    Gomes, R.R.4    Zatz, M.5
  • 10
    • 0032830639 scopus 로고    scopus 로고
    • Rett syndrome is caused by mutations in X linked MECP2, encoding methyl-CpG-binding protein 2
    • Amir R. E., et al. Rett syndrome is caused by mutations in X linked MECP2, encoding methyl-CpG-binding protein 2. Nature Genet. 23, 185-188 (1999
    • (1999) Nature Genet , vol.23 , pp. 185-188
    • Amir, R.E.1
  • 11
    • 2542481314 scopus 로고    scopus 로고
    • The major form of MeCP2 has a novel N terminus generated by alternative splicing
    • Kriaucionis S. & Bird A. The major form of MeCP2 has a novel N terminus generated by alternative splicing. Nucleic Acids Res. 32, 1818-1823 (2004
    • (2004) Nucleic Acids Res , vol.32 , pp. 1818-1823
    • Kriaucionis, S.1    Bird, A.2
  • 12
    • 12144287057 scopus 로고    scopus 로고
    • A previously unidentified mecp2 open reading frame defines a new protein isoform relevant to rett syndrome
    • Mnatzakanian G. N., et al. A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome. Nature Genet. 36, 339-341 (2004
    • (2004) Nature Genet , vol.36 , pp. 339-341
    • Mnatzakanian, G.N.1
  • 13
    • 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. & Bird A. A mouse Mecp2 null mutation causes neurological symptoms that mimic Rett syndrome. Nature Genet. 27, 322-326 (2001
    • (2001) Nature Genet , vol.27 , pp. 322-326
    • Guy, J.1    Hendrich, B.2    Holmes, M.3    Martin, J.E.4    Bird, A.5
  • 14
    • 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. & Jaenisch R. Deficiency of methyl-CpG binding protein 2 in CNS neurons results in a Rett-like phenotype in mice. Nature Genet. 27, 327-331 (2001
    • (2001) Nature Genet , vol.27 , pp. 327-331
    • Chen, R.Z.1    Akbarian, S.2    Tudor, M.3    Jaenisch, R.4
  • 15
    • 78149488365 scopus 로고    scopus 로고
    • A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells
    • Marchetto M. C. N., et al. A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells. Cell 143, 527-539 (2010
    • (2010) Cell , vol.143 , pp. 527-539
    • Marchetto, M.C.N.1
  • 16
    • 84885107449 scopus 로고    scopus 로고
    • Global transcriptional and translational repression in human-embryonic-stem-cell-derived Rett syndrome neurons
    • Li Y., et al. Global transcriptional and translational repression in human-embryonic-stem-cell-derived Rett syndrome neurons. Cell Stem Cell 13, 446-458 (2013
    • (2013) Cell Stem Cell , vol.13 , pp. 446-458
    • Li, Y.1
  • 17
    • 84866647783 scopus 로고    scopus 로고
    • Disease modeling using embryonic stem cells: Mecp2 regulates nuclear size and rna synthesis in neurons
    • Yazdani M., et al. Disease modeling using embryonic stem cells: MeCP2 regulates nuclear size and RNA synthesis in neurons. Stem Cells 30, 2128-2139 (2012
    • (2012) Stem Cells , vol.30 , pp. 2128-2139
    • Yazdani, M.1
  • 18
    • 84883462358 scopus 로고    scopus 로고
    • Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co repressor
    • Lyst M. J., et al. Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co repressor. Nature Neurosci. 16, 898-902 (2013
    • (2013) Nature Neurosci , vol.16 , pp. 898-902
    • Lyst, M.J.1
  • 19
    • 84904976180 scopus 로고    scopus 로고
    • Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice
    • Heckman L. D., Chahrour M. H. & Zoghbi H. Y. Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice. eLife 3, e02676 (2014
    • (2014) Elife , vol.3 , pp. e02676
    • Heckman, L.D.1    Chahrour, M.H.2    Zoghbi, H.Y.3
  • 20
    • 84874759852 scopus 로고    scopus 로고
    • An at hook domain in mecp2 determines the clinical course of rett syndrome and related disorders
    • Baker S. A., et al. An AT hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders. Cell 152, 984-996 (2013
    • (2013) Cell , vol.152 , pp. 984-996
    • Baker, S.A.1
  • 22
    • 0035170550 scopus 로고    scopus 로고
    • Expression pattern of the rett syndrome gene mecp2 in primate prefrontal cortex
    • Akbarian S., et al. Expression pattern of the Rett syndrome gene MeCP2 in primate prefrontal cortex. Neurobiol. Dis. 8, 784-791 (2001
    • (2001) Neurobiol. Dis , vol.8 , pp. 784-791
    • Akbarian, S.1
  • 23
    • 0037081840 scopus 로고    scopus 로고
    • Insight into Rett syndrome: MeCP2 levels display tissue-and cell-specific differences and correlate with neuronal maturation
    • Shahbazian M. D., Antalffy B., Armstrong D. L. & Zoghbi H. Y. Insight into Rett syndrome: MeCP2 levels display tissue-and cell-specific differences and correlate with neuronal maturation. Hum. Mol. Genet. 11, 115-124 (2002
    • (2002) Hum. Mol. Genet , vol.11 , pp. 115-124
    • Shahbazian, M.D.1    Antalffy, B.2    Armstrong, D.L.3    Zoghbi, H.Y.4
  • 24
    • 76849094693 scopus 로고    scopus 로고
    • Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state
    • Skene P. J., et al. Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state. Mol. Cell 37, 457-468 (2010
    • (2010) Mol. Cell , vol.37 , pp. 457-468
    • Skene, P.J.1
  • 25
    • 1642441427 scopus 로고    scopus 로고
    • Developmental expression of methyl-CpG binding protein 2 is dynamically regulated in the rodent brain
    • Mullaney B. C., Johnston M. V. & Blue M. E. Developmental expression of methyl-CpG binding protein 2 is dynamically regulated in the rodent brain. Neuroscience 123, 939-949 (2004
    • (2004) Neuroscience , vol.123 , pp. 939-949
    • Mullaney, B.C.1    Johnston, M.V.2    Blue, M.E.3
  • 26
    • 0037381336 scopus 로고    scopus 로고
    • The expression of methyl cpg binding factor mecp2 correlates with cellular differentiation in the developing rat brain and in cultured cells
    • Jung B. P., et al. The expression of methyl CpG binding factor MeCP2 correlates with cellular differentiation in the developing rat brain and in cultured cells. J. Neurobiol. 55, 86-96 (2003
    • (2003) J. Neurobiol , vol.55 , pp. 86-96
    • Jung, B.P.1
  • 27
    • 33847266846 scopus 로고    scopus 로고
    • Reversal of neurological defects in a mouse model of rett syndrome
    • Guy J., Gan J., Selfridge J., Cobb S. & Bird A. Reversal of neurological defects in a mouse model of Rett syndrome. Science 315, 1143-1147 (2007
    • (2007) Science , vol.315 , pp. 1143-1147
    • Guy, J.1    Gan, J.2    Selfridge, J.3    Cobb, S.4    Bird, A.5
  • 28
    • 84865085716 scopus 로고    scopus 로고
    • Postnatal inactivation reveals enhanced requirement for MeCP2 at distinct age windows
    • Cheval H., et al. Postnatal inactivation reveals enhanced requirement for MeCP2 at distinct age windows. Hum. Mol. Genet. 21, 3806-3814 (2012
    • (2012) Hum. Mol. Genet , vol.21 , pp. 3806-3814
    • Cheval, H.1
  • 29
    • 79960075356 scopus 로고    scopus 로고
    • Adult neural function requires MeCP2
    • McGraw C. M., Samaco R. C. & Zoghbi H. Y. Adult neural function requires MeCP2. Science 333, 186 (2011
    • (2011) Science , vol.333 , pp. 186
    • McGraw, C.M.1    Samaco, R.C.2    Zoghbi, H.Y.3
  • 30
    • 84863918059 scopus 로고    scopus 로고
    • MeCP2 is critical for maintaining mature neuronal networks and global brain anatomy during late stages of postnatal brain development and in the mature adult brain
    • Nguyen M. V. C., et al. MeCP2 is critical for maintaining mature neuronal networks and global brain anatomy during late stages of postnatal brain development and in the mature adult brain. J. Neurosci. 32, 10021-10034 (2012
    • (2012) J. Neurosci , vol.32 , pp. 10021-10034
    • Nguyen, M.V.C.1
  • 31
    • 79960907896 scopus 로고    scopus 로고
    • A role for glia in the progression of Rett"s syndrome
    • Lioy D. T., et al. A role for glia in the progression of Rett"s syndrome. Nature 475, 497-500 (2011
    • (2011) Nature , vol.475 , pp. 497-500
    • Lioy, D.T.1
  • 32
    • 60749102039 scopus 로고    scopus 로고
    • Non-cell autonomous influence of MeCP2 deficient glia on neuronal dendritic morphology
    • Ballas N., Lioy D. T., Grunseich C. & Mandel G. Non-cell autonomous influence of MeCP2 deficient glia on neuronal dendritic morphology. Nature Neurosci. 12, 311-317 (2009
    • (2009) Nature Neurosci , vol.12 , pp. 311-317
    • Ballas, N.1    Lioy, D.T.2    Grunseich, C.3    Mandel, G.4
  • 33
    • 84888242980 scopus 로고    scopus 로고
    • Oligodendrocyte lineage cells contribute unique features to Rett syndrome neuropathology
    • Nguyen M. V. C., et al. Oligodendrocyte lineage cells contribute unique features to Rett syndrome neuropathology. J. Neurosci. 33, 18764-18774 (2013
    • (2013) J. Neurosci , vol.33 , pp. 18764-18774
    • Nguyen, M.V.C.1
  • 34
    • 84859454582 scopus 로고    scopus 로고
    • Wild-type microglia arrest pathology in a mouse model of Rett syndrome
    • Derecki N. C., et al. Wild-type microglia arrest pathology in a mouse model of Rett syndrome. Nature 484, 105-109 (2012
    • (2012) Nature , vol.484 , pp. 105-109
    • Derecki, N.C.1
  • 35
    • 33344471941 scopus 로고    scopus 로고
    • Postnatal loss of methyl-CpG binding protein 2 in the forebrain is sufficient to mediate behavioral aspects of Rett syndrome in mice
    • Gemelli T., et al. Postnatal loss of methyl-CpG binding protein 2 in the forebrain is sufficient to mediate behavioral aspects of Rett syndrome in mice. Biol. Psychiatry 59, 468-476 (2006
    • (2006) Biol. Psychiatry , vol.59 , pp. 468-476
    • Gemelli, T.1
  • 36
    • 78149431869 scopus 로고    scopus 로고
    • Dysfunction in gaba signalling mediates autism-like stereotypies and rett syndrome phenotypes
    • Chao H. T., et al. Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. Nature 468, 263-269 (2010
    • (2010) Nature , vol.468 , pp. 263-269
    • Chao, H.T.1
  • 37
    • 67249150482 scopus 로고    scopus 로고
    • Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus
    • Ben-Shachar S., Chahrour M., Thaller C., Shaw C. A. & Zoghbi H. Y. Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus. Hum. Mol. Genet. 18, 2431-2442 (2009
    • (2009) Hum. Mol. Genet , vol.18 , pp. 2431-2442
    • Ben-Shachar, S.1    Chahrour, M.2    Thaller, C.3    Shaw, C.A.4    Zoghbi, H.Y.5
  • 38
    • 84907150594 scopus 로고    scopus 로고
    • Cell-type-specific repression by methyl-CpG-binding protein 2 is biased toward long genes
    • Sugino K., et al. Cell-type-specific repression by methyl-CpG-binding protein 2 is biased toward long genes. J. Neurosci. 34, 12877-12883 (2014
    • (2014) J. Neurosci , vol.34 , pp. 12877-12883
    • Sugino, K.1
  • 39
    • 84866981228 scopus 로고    scopus 로고
    • Brain activity mapping in Mecp2 mutant mice reveals functional deficits in forebrain circuits including key nodes in the default mode network that are reversed with ketamine treatment
    • Kron M., et al. Brain activity mapping in Mecp2 mutant mice reveals functional deficits in forebrain circuits including key nodes in the default mode network that are reversed with ketamine treatment. J. Neurosci. 32, 13860-13872 (2012
    • (2012) J. Neurosci , vol.32 , pp. 13860-13872
    • Kron, M.1
  • 40
    • 0026747761 scopus 로고
    • Purification sequence and cellular localization of a novel chromosomal protein that binds to methylated DNA
    • Lewis J. D., et al. Purification sequence and cellular localization of a novel chromosomal protein that binds to methylated DNA. Cell 69, 905-914 (1992
    • (1992) Cell , vol.69 , pp. 905-914
    • Lewis, J.D.1
  • 41
    • 0027495467 scopus 로고
    • Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2
    • Nan X., Meehan R. R. & Bird A. Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2. Nucleic Acids Res. 21, 4886-4892 (1993
    • (1993) Nucleic Acids Res , vol.21 , pp. 4886-4892
    • Nan, X.1    Meehan, R.R.2    Bird, A.3
  • 42
    • 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. 16, 414-421 (1996
    • (1996) Mol. Cell. Biol , vol.16 , pp. 414-421
    • Nan, X.1    Tate, P.2    Li, E.3    Bird, A.4
  • 43
    • 43149121772 scopus 로고    scopus 로고
    • Analysis of protein domains and Rett syndrome mutations indicate that multiple regions influence chromatin-binding dynamics of the chromatin-associated protein MECP2 in vivo
    • Kumar A., et al. Analysis of protein domains and Rett syndrome mutations indicate that multiple regions influence chromatin-binding dynamics of the chromatin-associated protein MECP2 in vivo. J. Cell Sci. 121, 1128-1137 (2008
    • (2008) J. Cell Sci , vol.121 , pp. 1128-1137
    • Kumar, A.1
  • 44
    • 84990251443 scopus 로고    scopus 로고
    • A temporal threshold for formaldehyde crosslinking and fixation
    • Schmiedeberg L., Skene P., Deaton A. & Bird A. A temporal threshold for formaldehyde crosslinking and fixation. PLoS ONE 4, e4636 (2009
    • (2009) Plos One , vol.4 , pp. e4636
    • Schmiedeberg, L.1    Skene, P.2    Deaton, A.3    Bird, A.4
  • 45
    • 0034928861 scopus 로고    scopus 로고
    • DNA methylation is linked to deacetylation of histone H3, but not H4, on the imprinted genes Snrpn and U2af1 rs1
    • Gregory R. I., et al. DNA methylation is linked to deacetylation of histone H3, but not H4, on the imprinted genes Snrpn and U2af1 rs1. Mol. Cell. Biol. 21, 5426-5436 (2001
    • (2001) Mol. Cell. Biol , vol.21 , pp. 5426-5436
    • Gregory, R.I.1
  • 46
    • 84893740377 scopus 로고    scopus 로고
    • Distribution recognition and regulation of non-CpG methylation in the adult mammalian brain
    • Guo J. U., et al. Distribution recognition and regulation of non-CpG methylation in the adult mammalian brain. Nature Neurosci. 17, 215-222 (2014
    • (2014) Nature Neurosci , vol.17 , pp. 215-222
    • Guo, J.U.1
  • 47
    • 84879663784 scopus 로고    scopus 로고
    • Global epigenomic reconfiguration during mammalian brain development
    • Lister R., et al. Global epigenomic reconfiguration during mammalian brain development. Science 341, 1237905 (2013
    • (2013) Science , vol.341 , pp. 1237905
    • Lister, R.1
  • 48
    • 0035906936 scopus 로고    scopus 로고
    • Solution structure of the methyl-cpg binding domain of human mbd1 in complex with methylated dna
    • Ohki I., et al. Solution structure of the methyl-CpG binding domain of human MBD1 in complex with methylated DNA. Cell 105, 487-497 (2001
    • (2001) Cell , vol.105 , pp. 487-497
    • Ohki, I.1
  • 49
    • 39549090166 scopus 로고    scopus 로고
    • MeCP2 binding to DNA depends upon hydration at methyl-CpG
    • Ho, K. L., et al. MeCP2 binding to DNA depends upon hydration at methyl-CpG. Mol. Cell 29, 525-531 (2008
    • (2008) Mol. Cell , vol.29 , pp. 525-531
    • Ho, K.L.1
  • 50
    • 84871563384 scopus 로고    scopus 로고
    • MeCP2 binds to 5hmC enriched within active genes and accessible chromatin in the nervous system
    • Mellén M., Ayata P., Dewell S., Kriaucionis S. & Heintz N. MeCP2 binds to 5hmC enriched within active genes and accessible chromatin in the nervous system. Cell 151, 1417-1430 (2012
    • (2012) Cell , vol.151 , pp. 1417-1430
    • Mellén, M.1    Ayata, P.2    Dewell, S.3    Kriaucionis, S.4    Heintz, N.5
  • 51
    • 84874771985 scopus 로고    scopus 로고
    • Dynamic readers for 5-(hydroxy) methylcytosine and its oxidized derivatives
    • Spruijt C. G., et al. Dynamic readers for 5-(hydroxy) methylcytosine and its oxidized derivatives. Cell 152, 1146-1159 (2013
    • (2013) Cell , vol.152 , pp. 1146-1159
    • Spruijt, C.G.1
  • 52
    • 79959431845 scopus 로고    scopus 로고
    • Recognition of 5 hydroxymethylcytosine by the Uhrf1 SRA domain
    • Frauer C., et al. Recognition of 5 hydroxymethylcytosine by the Uhrf1 SRA domain. PLoS ONE 6, e21306 (2011
    • (2011) Plos One , vol.6 , pp. e21306
    • Frauer, C.1
  • 53
    • 84860221291 scopus 로고    scopus 로고
    • Recognition and potential mechanisms for replication and erasure of cytosine hydroxymethylation
    • Hashimoto H., et al. Recognition and potential mechanisms for replication and erasure of cytosine hydroxymethylation. Nucleic Acids Res. 40, 4841-4849 (2012
    • (2012) Nucleic Acids Res , vol.40 , pp. 4841-4849
    • Hashimoto, H.1
  • 54
    • 84901911200 scopus 로고    scopus 로고
    • Unusual characteristics of the DNA binding domain of epigenetic regulatory protein MeCP2 determine its binding specificity
    • Khrapunov S., et al. Unusual characteristics of the DNA binding domain of epigenetic regulatory protein MeCP2 determine its binding specificity. Biochemistry 53, 3379-3391 (2014
    • (2014) Biochemistry , vol.53 , pp. 3379-3391
    • Khrapunov, S.1
  • 55
    • 4043112183 scopus 로고    scopus 로고
    • Oxidative damage to methyl-cpg sequences inhibits the binding of the methyl-cpg binding domain (mbd) of methyl-cpg binding protein 2 (mecp2
    • Valinluck V., et al. Oxidative damage to methyl-CpG sequences inhibits the binding of the methyl-CpG binding domain (MBD) of methyl-CpG binding protein 2 (MeCP2). Nucleic Acids Res. 32, 4100-4108 (2004
    • (2004) Nucleic Acids Res , vol.32 , pp. 4100-4108
    • Valinluck, V.1
  • 56
    • 66149123748 scopus 로고    scopus 로고
    • The nuclear DNA base 5 hydroxymethylcytosine is present in Purkinje neurons and the brain
    • Kriaucionis S. & Heintz N. The nuclear DNA base 5 hydroxymethylcytosine is present in Purkinje neurons and the brain. Science 324, 929-930 (2009
    • (2009) Science , vol.324 , pp. 929-930
    • Kriaucionis, S.1    Heintz, N.2
  • 57
    • 82255192294 scopus 로고    scopus 로고
    • 5 hmC-mediated epigenetic dynamics during postnatal neurodevelopment and aging
    • Szulwach K. E., et al. 5 hmC-mediated epigenetic dynamics during postnatal neurodevelopment and aging. Nature Neurosci. 14, 1607-1616 (2011
    • (2011) Nature Neurosci , vol.14 , pp. 1607-1616
    • Szulwach, K.E.1
  • 58
    • 0025965095 scopus 로고
    • A matrix/scaffold attachment region binding protein: Identification purification and mode of binding
    • Von Kries J. P., Buhrmester H. & Strätling W. H. A matrix/scaffold attachment region binding protein: identification purification and mode of binding. Cell 64, 123-135 (1991
    • (1991) Cell , vol.64 , pp. 123-135
    • Von Kries, J.P.1    Buhrmester, H.2    Strätling, W.H.3
  • 59
    • 0030745624 scopus 로고    scopus 로고
    • Chicken MAR-binding protein ARBP is homologous to rat methyl-CpG-binding protein MeCP2
    • Weitzel J. M., Buhrmester H. & Strätling W. H. Chicken MAR-binding protein ARBP is homologous to rat methyl-CpG-binding protein MeCP2. Mol. Cell. Biol. 17, 5656-5666 (1997
    • (1997) Mol. Cell. Biol , vol.17 , pp. 5656-5666
    • Weitzel, J.M.1    Buhrmester, H.2    Strätling, W.H.3
  • 60
    • 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 T. M. & Wolffe A. P. Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA. Biochemistry 39, 7100-7106 (2000
    • (2000) Biochemistry , vol.39 , pp. 7100-7106
    • Ballestar, E.1    Yusufzai, T.M.2    Wolffe, A.P.3
  • 61
    • 0034327571 scopus 로고    scopus 로고
    • Functional consequences of Rett syndrome mutations on human MeCP2
    • Yusufzai T. M. & Wolffe A. P. Functional consequences of Rett syndrome mutations on human MeCP2. Nucleic Acids Res. 28, 4172-4179 (2000
    • (2000) Nucleic Acids Res , vol.28 , pp. 4172-4179
    • Yusufzai, T.M.1    Wolffe, A.P.2
  • 62
    • 84876278080 scopus 로고    scopus 로고
    • Methylation-dependent and -independent genomic targeting principles of the MBD protein family
    • Baubec T., Ivánek R., Lienert F. & Schübeler D. Methylation-dependent and -independent genomic targeting principles of the MBD protein family. Cell 153, 480-492 (2013
    • (2013) Cell , vol.153 , pp. 480-492
    • Baubec, T.1    Ivánek, R.2    Lienert, F.3    Schübeler, D.4
  • 63
    • 0035793540 scopus 로고    scopus 로고
    • DNA recognition by the methyl-CpG binding domain of MeCP2
    • Free A., et al. DNA recognition by the methyl-CpG binding domain of MeCP2. J. Biol. Chem. 276, 3353-3360 (2001
    • (2001) J. Biol. Chem , vol.276 , pp. 3353-3360
    • Free, A.1
  • 64
    • 0037488244 scopus 로고    scopus 로고
    • Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain
    • Kudo S., et al. Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain. J. Med. Genet. 40, 487-493 (2003
    • (2003) J. Med. Genet , vol.40 , pp. 487-493
    • Kudo, S.1
  • 65
    • 0042357071 scopus 로고    scopus 로고
    • Chromatin compaction by human mecp2 assembly of novel secondary chromatin structures in the absence of dna methylation
    • Georgel P. T., et al. Chromatin compaction by human MeCP2. Assembly of novel secondary chromatin structures in the absence of DNA methylation. J. Biol. Chem. 278, 32181-32188 (2003
    • (2003) J. Biol. Chem , vol.278 , pp. 32181-32188
    • Georgel, P.T.1
  • 66
    • 34447536953 scopus 로고    scopus 로고
    • Intrinsic disorder and autonomous domain function in the multifunctional nuclear protein MeCP2
    • Adams V. H., McBryant S. J., Wade P. A., Woodcock C. L. & Hansen J. C. Intrinsic disorder and autonomous domain function in the multifunctional nuclear protein MeCP2. J. Biol. Chem. 282, 15057-15064 (2007
    • (2007) J. Biol. Chem , vol.282 , pp. 15057-15064
    • Adams, V.H.1    McBryant, S.J.2    Wade, P.A.3    Woodcock, C.L.4    Hansen, J.C.5
  • 67
    • 77952641629 scopus 로고    scopus 로고
    • Unique physical properties and interactions of the domains of methylated DNA binding protein 2
    • Ghosh R. P., et al. Unique physical properties and interactions of the domains of methylated DNA binding protein 2. Biochemistry 49, 4395-4410 (2010
    • (2010) Biochemistry , vol.49 , pp. 4395-4410
    • Ghosh, R.P.1
  • 68
    • 34948908780 scopus 로고    scopus 로고
    • MeCP2-chromatin interactions include the formation of chromatosome-like structures and are altered in mutations causing Rett syndrome
    • Nikitina T., et al. MeCP2-chromatin interactions include the formation of chromatosome-like structures and are altered in mutations causing Rett syndrome. J. Biol. Chem. 282, 28237-28245 (2007
    • (2007) J. Biol. Chem , vol.282 , pp. 28237-28245
    • Nikitina, T.1
  • 69
    • 84859975706 scopus 로고    scopus 로고
    • MeCP2 binds to nucleosome free (linker DNA) regions and to H3K9/H3K27 methylated nucleosomes in the brain
    • Thambirajah A. A., et al. MeCP2 binds to nucleosome free (linker DNA) regions and to H3K9/H3K27 methylated nucleosomes in the brain. Nucleic Acids Res. 40, 2884-2897 (2012
    • (2012) Nucleic Acids Res , vol.40 , pp. 2884-2897
    • Thambirajah, A.A.1
  • 70
    • 84856270235 scopus 로고    scopus 로고
    • Rett syndrome mutation MeCP2 T158A disrupts DNA binding protein stability and ERP responses
    • Goffin D., et al. Rett syndrome mutation MeCP2 T158A disrupts DNA binding protein stability and ERP responses. Nature Neurosci. 15, 274-283 (2011
    • (2011) Nature Neurosci , vol.15 , pp. 274-283
    • Goffin, D.1
  • 71
    • 0036144048 scopus 로고    scopus 로고
    • DNA methylation patterns and epigenetic memory
    • Bird A. DNA methylation patterns and epigenetic memory. Genes Dev. 16, 6-21 (2002
    • (2002) Genes Dev , vol.16 , pp. 6-21
    • Bird, A.1
  • 72
    • 0342437491 scopus 로고    scopus 로고
    • MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin
    • Nan X., Campoy F. J. & Bird A. MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin. Cell 88, 471-481 (1997
    • (1997) Cell , vol.88 , pp. 471-481
    • Nan, X.1    Campoy, F.J.2    Bird, A.3
  • 73
    • 0032574977 scopus 로고    scopus 로고
    • Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex
    • Nan X., et al. Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex. Nature 393, 386-389 (1998
    • (1998) Nature , vol.393 , pp. 386-389
    • Nan, X.1
  • 74
    • 0031837109 scopus 로고    scopus 로고
    • Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription
    • Jones P. L., et al. Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription. Nature Genet. 19, 187-191 (1998
    • (1998) Nature Genet , vol.19 , pp. 187-191
    • Jones, P.L.1
  • 75
    • 0035823532 scopus 로고    scopus 로고
    • The Ski protein family is required for MeCP2 mediated transcriptional repression
    • Kokura K., et al. The Ski protein family is required for MeCP2 mediated transcriptional repression. J. Biol. Chem. 276, 34115-34121 (2001
    • (2001) J. Biol. Chem , vol.276 , pp. 34115-34121
    • Kokura, K.1
  • 76
    • 0043178993 scopus 로고    scopus 로고
    • A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos
    • Stancheva I., Collins A. L., Van den Veyver I. B., Zoghbi H. & Meehan R. R. A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos. Mol. Cell 12, 425-435 (2003
    • (2003) Mol. Cell , vol.12 , pp. 425-435
    • Stancheva, I.1    Collins, A.L.2    Van Den Veyver, I.B.3    Zoghbi, H.4    Meehan, R.R.5
  • 77
    • 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. 18, 5492-5499 (1998
    • (1998) Mol. Cell. Biol , vol.18 , pp. 5492-5499
    • Kudo, S.1
  • 78
    • 78549247463 scopus 로고    scopus 로고
    • L1 retrotransposition in neurons is modulated by MeCP2
    • Muotri A. R., et al. L1 retrotransposition in neurons is modulated by MeCP2. Nature 468, 443-446 (2010
    • (2010) Nature , vol.468 , pp. 443-446
    • Muotri, A.R.1
  • 79
    • 84866403603 scopus 로고    scopus 로고
    • Morphological and functional reversal of phenotypes in a mouse model of Rett syndrome
    • Robinson L., et al. Morphological and functional reversal of phenotypes in a mouse model of Rett syndrome. Brain 135, 2699-2710 (2012
    • (2012) Brain , vol.135 , pp. 2699-2710
    • Robinson, L.1
  • 80
    • 84903721194 scopus 로고    scopus 로고
    • Rescue of behavioral and EEG deficits in male and female Mecp2 deficient mice by delayed Mecp2 gene reactivation
    • Lang M., et al. Rescue of behavioral and EEG deficits in male and female Mecp2 deficient mice by delayed Mecp2 gene reactivation. Hum. Mol. Genet. 23, 303-318 (2014
    • (2014) Hum. Mol. Genet , vol.23 , pp. 303-318
    • Lang, M.1
  • 81
    • 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. & Jaenisch R. Transcriptional profiling of a mouse model for Rett syndrome reveals subtle transcriptional changes in the brain. Proc. Natl Acad. Sci. USA 99, 15536-15541 (2002
    • (2002) Proc. Natl Acad. Sci. USA , vol.99 , pp. 15536-15541
    • Tudor, M.1    Akbarian, S.2    Chen, R.Z.3    Jaenisch, R.4
  • 82
    • 45849105557 scopus 로고    scopus 로고
    • MeCP2, a key contributor to neurological disease activates and represses transcription
    • Chahrour M., et al. MeCP2, a key contributor to neurological disease activates and represses transcription. Science 320, 1224-1229 (2008
    • (2008) Science , vol.320 , pp. 1224-1229
    • Chahrour, M.1
  • 83
    • 79956323623 scopus 로고    scopus 로고
    • Dynamic regulation of 5 hydroxymethylcytosine in mouse ES cells and during differentiation
    • Ficz G., et al. Dynamic regulation of 5 hydroxymethylcytosine in mouse ES cells and during differentiation. Nature 473, 398-402 (2011
    • (2011) Nature , vol.473 , pp. 398-402
    • Ficz, G.1
  • 84
    • 79956292024 scopus 로고    scopus 로고
    • Dual functions of Tet1 in transcriptional regulation in mouse embryonic stem cells
    • Wu, H., et al. Dual functions of Tet1 in transcriptional regulation in mouse embryonic stem cells. Nature 473, 389-393 (2011
    • (2011) Nature , vol.473 , pp. 389-393
    • Wu, H.1
  • 85
    • 69449102464 scopus 로고    scopus 로고
    • Genome-wide mapping of HATs and HDACs reveals distinct functions in active and inactive genes
    • Wang Z., et al. Genome-wide mapping of HATs and HDACs reveals distinct functions in active and inactive genes. Cell 138, 1019-1031 (2009
    • (2009) Cell , vol.138 , pp. 1019-1031
    • Wang, Z.1
  • 86
    • 79952032711 scopus 로고    scopus 로고
    • Reduced AKT/mTOR signaling and protein synthesis dysregulation in a Rett syndrome animal model
    • Ricciardi S., et al. Reduced AKT/mTOR signaling and protein synthesis dysregulation in a Rett syndrome animal model. Hum. Mol. Genet. 20, 1182-1196 (2011
    • (2011) Hum. Mol. Genet , vol.20 , pp. 1182-1196
    • Ricciardi, S.1
  • 87
    • 0036917867 scopus 로고    scopus 로고
    • Rett syndrome and MeCP2: Linking epigenetics and neuronal function
    • Shahbazian M. D. & Zoghbi H. Y. Rett syndrome and MeCP2: linking epigenetics and neuronal function. Am. J. Hum. Genet. 71, 1259-1272 (2002
    • (2002) Am. J. Hum. Genet , vol.71 , pp. 1259-1272
    • Shahbazian, M.D.1    Zoghbi, H.Y.2
  • 88
    • 84874779554 scopus 로고    scopus 로고
    • By hook or by crook: Multifaceted DNA-binding properties of MeCP2
    • Shin J., Ming G. L. & Song H. By hook or by crook: multifaceted DNA-binding properties of MeCP2. Cell 152, 940-942 (2013
    • (2013) Cell , vol.152 , pp. 940-942
    • Shin, J.1    Ming, G.L.2    Song, H.3
  • 89
    • 22344441631 scopus 로고    scopus 로고
    • Methyl CpG-binding proteins induce large-scale chromatin reorganization during terminal differentiation
    • Brero A., et al. Methyl CpG-binding proteins induce large-scale chromatin reorganization during terminal differentiation. J. Cell Biol. 169, 733-743 (2005
    • (2005) J. Cell Biol , vol.169 , pp. 733-743
    • Brero, A.1
  • 90
    • 11244328520 scopus 로고    scopus 로고
    • Loss of silent-chromatin looping and impaired imprinting of dlx5 in rett syndrome
    • Horike S., Cai S., Miyano M., Cheng J. F. & Kohwi-Shigematsu T. Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome. Nature Genet. 37, 31-40 (2005
    • (2005) Nature Genet , vol.37 , pp. 31-40
    • Horike, S.1    Cai, S.2    Miyano, M.3    Cheng, J.F.4    Kohwi-Shigematsu, T.5
  • 91
    • 33846637375 scopus 로고    scopus 로고
    • Multiple modes of interaction between the methylated DNA binding protein MeCP2 and chromatin
    • Nikitina T., et al. Multiple modes of interaction between the methylated DNA binding protein MeCP2 and chromatin. Mol. Cell. Biol. 27, 864-877 (2007
    • (2007) Mol. Cell. Biol , vol.27 , pp. 864-877
    • Nikitina, T.1
  • 92
    • 77956683757 scopus 로고    scopus 로고
    • MeCP2 binds cooperatively to its substrate and competes with histone H1 for chromatin binding sites
    • Ghosh R. P., Horowitz-Scherer R. A., Nikitina T., Shlyakhtenko L. S. & Woodcock C. L. MeCP2 binds cooperatively to its substrate and competes with histone H1 for chromatin binding sites. Mol. Cell. Biol. 30, 4656-4670 (2010
    • (2010) Mol. Cell. Biol , vol.30 , pp. 4656-4670
    • Ghosh, R.P.1    Horowitz-Scherer, R.A.2    Nikitina, T.3    Shlyakhtenko, L.S.4    Woodcock, C.L.5
  • 93
    • 10344250458 scopus 로고    scopus 로고
    • Components of the DNA methylation system of chromatin control are RNA-binding proteins
    • Jeffery L. & Nakielny S. Components of the DNA methylation system of chromatin control are RNA-binding proteins. J. Biol. Chem. 279, 49479-49487 (2004
    • (2004) J. Biol. Chem , vol.279 , pp. 49479-49487
    • Jeffery, L.1    Nakielny, S.2
  • 94
    • 29144447632 scopus 로고    scopus 로고
    • Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2
    • Young J. I., et al. Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2. Proc. Natl Acad. Sci. USA 102, 17551-17558 (2005
    • (2005) Proc. Natl Acad. Sci. USA , vol.102 , pp. 17551-17558
    • Young, J.I.1
  • 95
    • 84887214395 scopus 로고    scopus 로고
    • Intragenic DNA methylation modulates alternative splicing by recruiting MeCP2 to promote exon recognition
    • Maunakea A. K., Chepelev I., Cui K. & Zhao K. Intragenic DNA methylation modulates alternative splicing by recruiting MeCP2 to promote exon recognition. Cell Res. 23, 1256-1269 (2013
    • (2013) Cell Res , vol.23 , pp. 1256-1269
    • Maunakea, A.K.1    Chepelev, I.2    Cui, K.3    Zhao, K.4
  • 96
    • 84895740923 scopus 로고    scopus 로고
    • Mecp2 suppresses nuclear microrna processing and dendritic growth by regulating the dgcr8/drosha complex
    • Cheng T. L., et al. MeCP2 suppresses nuclear microRNA processing and dendritic growth by regulating the DGCR8/Drosha complex. Dev. Cell 28, 547-560 (2014
    • (2014) Dev. Cell , vol.28 , pp. 547-560
    • Cheng, T.L.1
  • 97
    • 84856286525 scopus 로고    scopus 로고
    • Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome
    • Samaco R. C., et al. Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome. Nature Genet. 44, 206-211 (2012
    • (2012) Nature Genet , vol.44 , pp. 206-211
    • Samaco, R.C.1
  • 98
    • 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. & Jaenisch R. The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression. Neuron 49, 341-348 (2006
    • (2006) Neuron , vol.49 , pp. 341-348
    • Chang, Q.1    Khare, G.2    Dani, V.3    Nelson, S.4    Jaenisch, R.5
  • 99
    • 77951014800 scopus 로고    scopus 로고
    • Exogenous brain-derived neurotrophic factor rescues synaptic dysfunction in Mecp2 null mice
    • Kline D. D., Ogier M., Kunze D. L. & Katz D. M. Exogenous brain-derived neurotrophic factor rescues synaptic dysfunction in Mecp2 null mice. J. Neurosci. 30, 5303-5310 (2010
    • (2010) J. Neurosci , vol.30 , pp. 5303-5310
    • Kline, D.D.1    Ogier, M.2    Kunze, D.L.3    Katz, D.M.4
  • 100
    • 84883390784 scopus 로고    scopus 로고
    • A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome
    • Buchovecky C. M., et al. A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome. Nature Genet. 45, 1013-1020 (2013
    • (2013) Nature Genet , vol.45 , pp. 1013-1020
    • Buchovecky, C.M.1
  • 101
    • 34547118571 scopus 로고    scopus 로고
    • Cerebellar gene expression profiles of mouse models for Rett syndrome reveal novel MeCP2 targets
    • Jordan C., Li H. H., Kwan H. C. & Francke U. Cerebellar gene expression profiles of mouse models for Rett syndrome reveal novel MeCP2 targets. BMC Med. Genet. 8, 36 (2007
    • (2007) BMC Med. Genet , vol.8 , pp. 36
    • Jordan, C.1    Li, H.H.2    Kwan, H.C.3    Francke, U.4
  • 102
    • 0037405913 scopus 로고    scopus 로고
    • Rettbase: The irsa mecp2 variation database -a new mutation database in evolution
    • Christodoulou J., Grimm A., Maher T. & Bennetts B. RettBASE: the IRSA MECP2 variation database -a new mutation database in evolution. Hum. Mutat. 21, 466-472 (2003
    • (2003) Hum. Mutat , vol.21 , pp. 466-472
    • Christodoulou, J.1    Grimm, A.2    Maher, T.3    Bennetts, B.4
  • 103
    • 83255185186 scopus 로고    scopus 로고
    • Transgenic complementation of MeCP2 deficiency: Phenotypic rescue of Mecp2-null mice by isoform-specific transgenes
    • Kerr B., et al. Transgenic complementation of MeCP2 deficiency: phenotypic rescue of Mecp2-null mice by isoform-specific transgenes. Eur. J. Hum. Genet. 20, 69-76 (2012
    • (2012) Eur. J. Hum. Genet , vol.20 , pp. 69-76
    • Kerr, B.1
  • 104
    • 84896978613 scopus 로고    scopus 로고
    • Mice with an isoform-ablating Mecp2 exon 1 mutation recapitulate the neurologic deficits of Rett syndrome
    • Yasui D. H., et al. Mice with an isoform-ablating Mecp2 exon 1 mutation recapitulate the neurologic deficits of Rett syndrome. Hum. Mol. Genet. 23, 2447-2458 (2014
    • (2014) Hum. Mol. Genet , vol.23 , pp. 2447-2458
    • Yasui, D.H.1
  • 105
    • 0037130455 scopus 로고    scopus 로고
    • Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3
    • Shahbazian M. D., et al. Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron 35, 243-254 (2002
    • (2002) Neuron , vol.35 , pp. 243-254
    • Shahbazian, M.D.1
  • 106
    • 77951561039 scopus 로고    scopus 로고
    • Updating the profile of C terminal MECP2 deletions in Rett syndrome
    • Bebbington A., et al. Updating the profile of C terminal MECP2 deletions in Rett syndrome. J. Med. Genet. 47, 242-248 (2010
    • (2010) J. Med. Genet , vol.47 , pp. 242-248
    • Bebbington, A.1
  • 107
    • 84894438035 scopus 로고    scopus 로고
    • Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome
    • Cuddapah V. A., et al. Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. J. Med. Genet. 51, 152-158 (2014
    • (2014) J. Med. Genet , vol.51 , pp. 152-158
    • Cuddapah, V.A.1
  • 108
    • 42249095974 scopus 로고    scopus 로고
    • Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome
    • Neul J. L., et al. Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. Neurology 70, 1313-1321 (2008
    • (2008) Neurology , vol.70 , pp. 1313-1321
    • Neul, J.L.1
  • 109
    • 18144443930 scopus 로고    scopus 로고
    • Long-read sequence analysis of the mecp2 gene in rett syndrome patients: Correlation of disease severity with mutation type and location
    • Cheadle J. P., et al. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Hum. Mol. Genet. 9, 1119-1129 (2000
    • (2000) Hum. Mol. Genet , vol.9 , pp. 1119-1129
    • Cheadle, J.P.1
  • 110
    • 0033854457 scopus 로고    scopus 로고
    • Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome
    • Obata K., et al. Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome. J. Med. Genet. 37, 608-610 (2000
    • (2000) J. Med. Genet , vol.37 , pp. 608-610
    • Obata, K.1
  • 111
    • 33847282970 scopus 로고    scopus 로고
    • Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation
    • Nan X., et al. Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation. Proc. Natl Acad. Sci. USA 104, 2709-2714 (2007
    • (2007) Proc. Natl Acad. Sci. USA , vol.104 , pp. 2709-2714
    • Nan, X.1
  • 112
    • 80053997718 scopus 로고    scopus 로고
    • MeCP2 Rett mutations affect large scale chromatin organization
    • Agarwal N., et al. MeCP2 Rett mutations affect large scale chromatin organization. Hum. Mol. Genet. 20, 4187-4195 (2011
    • (2011) Hum. Mol. Genet , vol.20 , pp. 4187-4195
    • Agarwal, N.1
  • 113
    • 33745479882 scopus 로고    scopus 로고
    • Gene expression analysis exposes mitochondrial abnormalities in a mouse model of Rett syndrome
    • Kriaucionis S., et al. Gene expression analysis exposes mitochondrial abnormalities in a mouse model of Rett syndrome. Mol. Cell. Biol. 26, 5033-5042 (2006
    • (2006) Mol. Cell. Biol , vol.26 , pp. 5033-5042
    • Kriaucionis, S.1
  • 114
    • 34748831111 scopus 로고    scopus 로고
    • MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number
    • Chao H. T., Zoghbi H. Y. & Rosenmund C. MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number. Neuron 56, 58-65 (2007
    • (2007) Neuron , vol.56 , pp. 58-65
    • Chao, H.T.1    Zoghbi, H.Y.2    Rosenmund, C.3
  • 115
    • 23944509593 scopus 로고    scopus 로고
    • Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome
    • Meins M., et al. Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome. J. Med. Genet. 42, e12 (2005
    • (2005) J. Med. Genet , vol.42 , pp. e12
    • Meins, M.1
  • 116
    • 23944503759 scopus 로고    scopus 로고
    • Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males
    • Van Esch H., et al. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am. J. Hum. Genet. 77, 442-453 (2005
    • (2005) Am. J. Hum. Genet , vol.77 , pp. 442-453
    • Van Esch, H.1
  • 117
    • 8444253290 scopus 로고    scopus 로고
    • Mild overexpression of MeCP2 causes a progressive neurological disorder in mice
    • Collins A. L., et al. Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Hum. Mol. Genet. 13, 2679-2689 (2004
    • (2004) Hum. Mol. Genet , vol.13 , pp. 2679-2689
    • Collins, A.L.1
  • 118
    • 44849088409 scopus 로고    scopus 로고
    • Defective body-weight regulation motor control and abnormal social interactions in Mecp2 hypomorphic mice
    • Kerr B., Alvarez-Saavedra M., Sáez M. A., Saona A. & Young J. I. Defective body-weight regulation motor control and abnormal social interactions in Mecp2 hypomorphic mice. Hum. Mol. Genet. 17, 1707-1717 (2008
    • (2008) Hum. Mol. Genet , vol.17 , pp. 1707-1717
    • Kerr, B.1    Alvarez-Saavedra, M.2    Sáez, M.A.3    Saona, A.4    Young, J.I.5
  • 119
    • 44849101156 scopus 로고    scopus 로고
    • A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome
    • Samaco R. C., et al. A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome. Hum. Mol. Genet. 17, 1718-1727 (2008
    • (2008) Hum. Mol. Genet , vol.17 , pp. 1718-1727
    • Samaco, R.C.1
  • 120
    • 84874895206 scopus 로고    scopus 로고
    • Human-specific regulation of MeCP2 levels in fetal brains by microRNA miR 483 5p
    • Han K., et al. Human-specific regulation of MeCP2 levels in fetal brains by microRNA miR 483 5p. Genes Dev. 27, 485-490 (2013
    • (2013) Genes Dev , vol.27 , pp. 485-490
    • Han, K.1
  • 121
    • 36448969801 scopus 로고    scopus 로고
    • Homeostatic regulation of MeCP2 expression by a CREB-induced microRNA
    • Klein M. E., et al. Homeostatic regulation of MeCP2 expression by a CREB-induced microRNA. Nature Neurosci. 10, 1513-1514 (2007
    • (2007) Nature Neurosci , vol.10 , pp. 1513-1514
    • Klein, M.E.1
  • 122
    • 84872593582 scopus 로고    scopus 로고
    • Activity-dependent neuronal signalling and autism spectrum disorder
    • Ebert D. H. & Greenberg M. E. Activity-dependent neuronal signalling and autism spectrum disorder. Nature 493, 327-337 (2013
    • (2013) Nature , vol.493 , pp. 327-337
    • Ebert, D.H.1    Greenberg, M.E.2
  • 123
    • 0242332183 scopus 로고    scopus 로고
    • Derepression of BDNF transcription involves calcium-dependent phosphorylation of MeCP2
    • Chen W. G., et al. Derepression of BDNF transcription involves calcium-dependent phosphorylation of MeCP2. Science 302, 885-889 (2003
    • (2003) Science , vol.302 , pp. 885-889
    • Chen, W.G.1
  • 124
    • 0242300612 scopus 로고    scopus 로고
    • DNA methylation-related chromatin remodeling in activity-dependent BDNF gene regulation
    • Martinowich K., et al. DNA methylation-related chromatin remodeling in activity-dependent BDNF gene regulation. Science 302, 890-893 (2003
    • (2003) Science , vol.302 , pp. 890-893
    • Martinowich, K.1
  • 125
    • 33749590330 scopus 로고    scopus 로고
    • Brain-specific phosphorylation of MeCP2 regulates activity-dependent Bdnf transcription dendritic growth and spine maturation
    • Zhou Z., et al. Brain-specific phosphorylation of MeCP2 regulates activity-dependent Bdnf transcription dendritic growth and spine maturation. Neuron 52, 255-269 (2006
    • (2006) Neuron , vol.52 , pp. 255-269
    • Zhou, Z.1
  • 126
    • 63849239275 scopus 로고    scopus 로고
    • Phosphorylation of MeCP2 at Serine 80 regulates its chromatin association and neurological function
    • Tao J., et al. Phosphorylation of MeCP2 at Serine 80 regulates its chromatin association and neurological function. Proc. Natl Acad. Sci. USA 106, 4882-4887 (2009
    • (2009) Proc. Natl Acad. Sci. USA , vol.106 , pp. 4882-4887
    • Tao, J.1
  • 127
    • 84880418481 scopus 로고    scopus 로고
    • Activity-dependent phosphorylation of MeCP2 threonine 308 regulates interaction with NCoR
    • Ebert D. H., et al. Activity-dependent phosphorylation of MeCP2 threonine 308 regulates interaction with NCoR. Nature 499, 341-345 (2013
    • (2013) Nature , vol.499 , pp. 341-345
    • Ebert, D.H.1
  • 128
    • 80053579176 scopus 로고    scopus 로고
    • Genome-wide activity-dependent MeCP2 phosphorylation regulates nervous system development and function
    • Cohen S., et al. Genome-wide activity-dependent MeCP2 phosphorylation regulates nervous system development and function. Neuron 72, 72-85 (2011
    • (2011) Neuron , vol.72 , pp. 72-85
    • Cohen, S.1
  • 129
    • 79960842090 scopus 로고    scopus 로고
    • Loss of activity-induced phosphorylation of MeCP2 enhances synaptogenesis LTP and spatial memory
    • Li H., Zhong X., Chau K. F., Williams E. C. & Chang Q. Loss of activity-induced phosphorylation of MeCP2 enhances synaptogenesis LTP and spatial memory. Nature Neurosci. 14, 1001-1008 (2011
    • (2011) Nature Neurosci , vol.14 , pp. 1001-1008
    • Li, H.1    Zhong, X.2    Chau, K.F.3    Williams, E.C.4    Chang, Q.5
  • 130
    • 52049126415 scopus 로고    scopus 로고
    • Deletion of Mecp2 in Sim1 expressing neurons reveals a critical role for MeCP2 in feeding behavior aggression and the response to stress
    • Fyffe S. L., et al. Deletion of Mecp2 in Sim1 expressing neurons reveals a critical role for MeCP2 in feeding behavior aggression and the response to stress. Neuron 59, 947-958 (2008
    • (2008) Neuron , vol.59 , pp. 947-958
    • Fyffe, S.L.1
  • 131
    • 84890931655 scopus 로고    scopus 로고
    • Leptin resistance and obesity in mice with deletion of methyl-cpg-binding protein 2 (mecp2) in hypothalamic pro-opiomelanocortin (pomc) neurons
    • Wang X., Lacza Z., Sun Y. E. & Han W. Leptin resistance and obesity in mice with deletion of methyl-CpG-binding protein 2 (MeCP2) in hypothalamic pro-opiomelanocortin (POMC) neurons. Diabetologia 57, 236-245 (2014
    • (2014) Diabetologia , vol.57 , pp. 236-245
    • Wang, X.1    Lacza, Z.2    Sun, Y.E.3    Han, W.4
  • 132
    • 76049091733 scopus 로고    scopus 로고
    • Loss of mecp2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities
    • Samaco R. C., et al. Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities. Proc. Natl Acad. Sci. USA 106, 21966-21971 (2009
    • (2009) Proc. Natl Acad. Sci. USA , vol.106 , pp. 21966-21971
    • Samaco, R.C.1
  • 133
    • 84901653941 scopus 로고    scopus 로고
    • Cellular origins of auditory event-related potential deficits in Rett syndrome
    • Goffin D., Brodkin E. S., Blendy J. A., Siegel S. J. & Zhou Z. Cellular origins of auditory event-related potential deficits in Rett syndrome. Nature Neurosci. 17, 804-806 (2014
    • (2014) Nature Neurosci , vol.17 , pp. 804-806
    • Goffin, D.1    Brodkin, E.S.2    Blendy, J.A.3    Siegel, S.J.4    Zhou, Z.5
  • 134
    • 84893709462 scopus 로고    scopus 로고
    • Loss of MeCP2 from forebrain excitatory neurons leads to cortical hyperexcitation and seizures
    • Zhang W., Peterson M., Beyer B., Frankel W. N. & Zhang Z. Loss of MeCP2 from forebrain excitatory neurons leads to cortical hyperexcitation and seizures. J. Neurosci. 34, 2754-2763 (2014
    • (2014) J. Neurosci , vol.34 , pp. 2754-2763
    • Zhang, W.1    Peterson, M.2    Beyer, B.3    Frankel, W.N.4    Zhang, Z.5
  • 135
    • 79960416688 scopus 로고    scopus 로고
    • MeCP2 is critical within HoxB1 derived tissues of mice for normal lifespan
    • Ward C. S., et al. MeCP2 is critical within HoxB1 derived tissues of mice for normal lifespan. J. Neurosci. 31, 10359-10370 (2011
    • (2011) J. Neurosci , vol.31 , pp. 10359-10370
    • Ward, C.S.1
  • 136
    • 65249109439 scopus 로고    scopus 로고
    • Mecp2 mediated transcription repression in the basolateral amygdala may underlie heightened anxiety in a mouse model of rett syndrome
    • Adachi M., Autry A. E., Covington H. E. & Monteggia L. M. MeCP2 mediated transcription repression in the basolateral amygdala may underlie heightened anxiety in a mouse model of Rett syndrome. J. Neurosci. 29, 4218-4227 (2009
    • (2009) J. Neurosci , vol.29 , pp. 4218-4227
    • Adachi, M.1    Autry, A.E.2    Covington, H.E.3    Monteggia, L.M.4
  • 137
    • 76249083210 scopus 로고    scopus 로고
    • Atrx partners with cohesin and mecp2 and contributes to developmental silencing of imprinted genes in the brain
    • Kernohan K. D., et al. ATRX partners with cohesin and MeCP2 and contributes to developmental silencing of imprinted genes in the brain. Dev. Cell 18, 191-202 (2010
    • (2010) Dev. Cell , vol.18 , pp. 191-202
    • Kernohan, K.D.1
  • 138
    • 84874947727 scopus 로고    scopus 로고
    • The BioGRID interaction database: 2013 update
    • Chatr-Aryamontri A., et al. The BioGRID interaction database: 2013 update. Nucleic Acids Res. 41, D816-D823 (2013
    • (2013) Nucleic Acids Res , vol.41 , pp. D816-D823
    • Chatr-Aryamontri, A.1
  • 139
    • 84893015423 scopus 로고    scopus 로고
    • MeCP2: A novel Huntingtin interactor
    • McFarland K. N., et al. MeCP2: a novel Huntingtin interactor. Hum. Mol. Genet. 23, 1036-1044 (2014
    • (2014) Hum. Mol. Genet , vol.23 , pp. 1036-1044
    • McFarland, K.N.1
  • 140
    • 84891368499 scopus 로고    scopus 로고
    • Ethanol-induced acetylation of histone at G9a exon1 and G9a mediated histone H3 dimethylation leads to neurodegeneration in neonatal mice
    • Subbanna S., et al. Ethanol-induced acetylation of histone at G9a exon1 and G9a mediated histone H3 dimethylation leads to neurodegeneration in neonatal mice. Neuroscience 258, 422-432 (2014
    • (2014) Neuroscience , vol.258 , pp. 422-432
    • Subbanna, S.1
  • 141
    • 79960724914 scopus 로고    scopus 로고
    • A brain-derived MeCP2 complex supports a role for MeCP2 in RNA processing
    • Long S. W., Ooi J. Y. Y., Yau P. M. & Jones P. L. A brain-derived MeCP2 complex supports a role for MeCP2 in RNA processing. Biosci. Rep. 31, 333-343 (2011
    • (2011) Biosci. Rep , vol.31 , pp. 333-343
    • Long, S.W.1    Ooi, J.Y.Y.2    Yau, P.M.3    Jones, P.L.4
  • 142
    • 84864400984 scopus 로고    scopus 로고
    • Elevated IKKα accelerates the differentiation of human neuronal progenitor cells and induces MeCP2 dependent BDNF expression
    • Khoshnan A. & Patterson P. H. Elevated IKKα accelerates the differentiation of human neuronal progenitor cells and induces MeCP2 dependent BDNF expression. PLoS ONE 7, e41794 (2012
    • (2012) Plos One , vol.7 , pp. e41794
    • Khoshnan, A.1    Patterson, P.H.2
  • 143
    • 84872371295 scopus 로고    scopus 로고
    • Direct homo-and hetero-interactions of MeCP2 and MBD2
    • Becker A., et al. Direct homo-and hetero-interactions of MeCP2 and MBD2. PLoS ONE 8, e53730 (2013
    • (2013) Plos One , vol.8 , pp. e53730
    • Becker, A.1
  • 144
    • 78651408754 scopus 로고    scopus 로고
    • Identification of neuronal RNA targets of TDP 43 containing ribonucleoprotein complexes
    • Sephton C. F., et al. Identification of neuronal RNA targets of TDP 43 containing ribonucleoprotein complexes. J. Biol. Chem. 286, 1204-1215 (2011
    • (2011) J. Biol. Chem , vol.286 , pp. 1204-1215
    • Sephton, C.F.1
  • 145
    • 84887419524 scopus 로고    scopus 로고
    • Identification of TET1 partners that control its DNA-demethylating function
    • Cartron P. F., et al. Identification of TET1 partners that control its DNA-demethylating function. Genes Cancer 4, 235-241 (2013
    • (2013) Genes Cancer , vol.4 , pp. 235-241
    • Cartron, P.F.1
  • 146
    • 84858603224 scopus 로고    scopus 로고
    • The stress oncoprotein LEDGF/p75 interacts with the methyl CpG binding protein MeCP2 and influences its transcriptional activity
    • Leoh L. S., et al. The stress oncoprotein LEDGF/p75 interacts with the methyl CpG binding protein MeCP2 and influences its transcriptional activity. Mol. Cancer Res. 10, 378-391 (2012
    • (2012) Mol. Cancer Res , vol.10 , pp. 378-391
    • Leoh, L.S.1
  • 147
    • 84877350648 scopus 로고    scopus 로고
    • Holocarboxylase synthetase synergizes with methyl cpg binding protein 2 and dna methyltransferase 1 in the transcriptional repression of long-terminal repeats
    • Xue J., Wijeratne S. S. K. & Zempleni J. Holocarboxylase synthetase synergizes with methyl CpG binding protein 2 and DNA methyltransferase 1 in the transcriptional repression of long-terminal repeats. Epigenetics 8, 504-511 (2013
    • (2013) Epigenetics , vol.8 , pp. 504-511
    • Xue, J.1    Wijeratne, S.S.K.2    Zempleni, J.3
  • 148
    • 79959433009 scopus 로고    scopus 로고
    • Co localization of the oncogenic transcription factor MYCN and the DNA methyl binding protein MeCP2 at genomic sites in neuroblastoma
    • Murphy D. M., et al. Co localization of the oncogenic transcription factor MYCN and the DNA methyl binding protein MeCP2 at genomic sites in neuroblastoma. PLoS ONE 6, e21436 (2011
    • (2011) Plos One , vol.6 , pp. e21436
    • Murphy, D.M.1
  • 149
    • 84928209581 scopus 로고    scopus 로고
    • Disruption of DNA methylation-dependent long gene repression in Rett syndrome
    • in the press
    • Gabel H. W., et al. Disruption of DNA methylation-dependent long gene repression in Rett syndrome. Nature (in the press
    • Nature
    • Gabel, H.W.1


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