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Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice
Abstract
Mecp2 is an X-linked gene encoding a nuclear protein that binds specifically to methylated DNA (ref. 1) and functions as a general transcriptional repressor by associating with chromatin-remodeling complexes. Mecp2 is expressed at high levels in the postnatal brain, indicating that methylation-dependent regulation of gene expression may have a crucial role in the mammalian central nervous system. Consistent with this notion is the recent demonstration that MECP2 mutations cause Rett syndrome (RTT, MIM 312750), a childhood neurological disorder that represents one of the most common causes of mental retardation in females. Here we show that Mecp2-deficient mice exhibit phenotypes that resemble some of the symptoms of RTT patients. Mecp2-null mice were normal until 5 weeks of age, when they began to develop disease, leading to death between 6 and 12 weeks. Mutant brains showed substantial reduction in both weight and neuronal cell size, but no obvious structural defects or signs of neurodegeneration. Brain-specific deletion of Mecp2 at embryonic day (E) 12 resulted in a phenotype identical to that of the null mutation, indicating that the phenotype is caused by Mecp2 deficiency in the CNS rather than in peripheral tissues. Deletion of Mecp2 in postnatal CNS neurons led to a similar neuronal phenotype, although at a later age. Our results indicate that the role of Mecp2 is not restricted to the immature brain, but becomes critical in mature neurons. Mecp2 deficiency in these neurons is sufficient to cause neuronal dysfunction with symptomatic manifestation similar to Rett syndrome.
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“Two alleles of Mecp2 are primarily used as mouse models of RTT: Mecp2tm1.1Bird, a null mutation3, and Mecp2tm1.1Jae, which expresses low levels of a truncated protein32.”
From A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome (2013) · cites this paper as [32]
In the citing paper
“Loss of MeCp2 results in reduced brain weight [67, 126], with thinning of the neocortex described in some mouse models [115, 200, 302].”
From Autism spectrum disorder: neuropathology and animal models (2017) · cites this paper as [67]
Citations
Cites
Generalized lacZ expression with the ROSA26 Cre reporter strain
Soriano, P. (1999) · Nature Genetics · doi:10.1038/5007 · Cited by 5,237
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., & Zoghbi, H. Y. (1999) · Nature Genetics · doi:10.1038/13810 · Cited by 4,990
Nan, X., Ng, H.-H., Johnson, C. A., Laherty, C. D., Turner, B. M., Eisenman, R. N., & Bird, A. (1998) · Nature · doi:10.1038/30764 · Cited by 3,440
Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription
Jones, P. L., Veenstra, G. J. C., Wade, P. A., Vermaak, D., Kass, S. U., Landsberger, N., Strouboulis, J., & Wolffe, A. P. (1998) · Nature Genetics · doi:10.1038/561 · Cited by 2,791
A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome
Guy, J., Hendrich, B., Holmes, M., Martin, J. E., & Bird, A. (2001) · Nature Genetics · doi:10.1038/85899 · Cited by 1,558
Hagberg, B. A., Aicardi, J. F., Dias, K., & Ramos, O. (1983) · Annals of Neurology · doi:10.1002/ana.410140412 · Cited by 1,515
Lewis, J. D., Meehan, R. R., Henzel, W. J., Maurer-Fogy, I., Jeppesen, P., Klein, F., & Bird, A. (1992) · Cell · doi:10.1016/0092-8674(92)90610-o · Cited by 1,371
Essential Role for TrkB Receptors in Hippocampus-Mediated Learning
Minichiello, L., Korte, M., Wolfer, D., Kühn, R., Unsicker, K., Cestari, V., Rossi-Arnaud, C., Lipp, H.-P., Bonhoeffer, T., & Klein, R. (1999) · Neuron · doi:10.1016/s0896-6273(00)80853-3 · Cited by 799
(1966) · PubMed · Cited by 708
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots
Wan, M., Lee, S. S. J., Zhang, X., Houwink-Manville, I., Song, H.-R., Amir, R. E., Budden, S., Naidu, S., Pereira, J. L. P., Lo, I. F. M., et al. (1999) · The American Journal of Human Genetics · doi:10.1086/302690 · Cited by 520
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Research works printed but not linked: 1
- Rett, A. Uber ein eigenartiges hirnatrophisches Syndrom bei Hyperammonamie im Kindersalter. Wien Med. Wochenschr. 116, 723–726 (1966).
Cited by
Sorted by citations
Shrestha, S., & Offer, S. M. (2016) · Medical Epigenetics · doi:10.1159/000444713 · Cited by 8,951
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Bird, A. (2002) · Genes & Development · doi:10.1101/gad.947102 · Cited by 7,124
Jaenisch, R., & Bird, A. (2003) · Nature Genetics · doi:10.1038/ng1089 · Cited by 6,325
Self-citationDNA methylation and its basic function
Moore, L. D., Le, T., & Fan, G. (2013) · Neuropsychopharmacology · doi:10.1038/npp.2012.112 · Cited by 4,906
Genomic DNA methylation: the mark and its mediators.
Klose, R. J., & Bird, A. P. (2006) · Trends in Biochemical Sciences · doi:10.1016/j.tibs.2005.12.008 · Cited by 2,501
The Role of DNA Methylation in Mammalian Epigenetics
Jones, P. A., & Takai, D. (2001) · Science · doi:10.1126/science.1063852 · Cited by 2,125
Chromatin modification and epigenetic reprogramming in mammalian development
Li, E. (2002) · Nature Reviews Genetics · doi:10.1038/nrg887 · Cited by 1,900
Yang, H., Wang, H., Shivalila, C. S., Cheng, A. W., Shi, L., & Jaenisch, R. (2013) · Cell · doi:10.1016/j.cell.2013.08.022 · Cited by 1,596
Self-citationA mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome
Guy, J., Hendrich, B., Holmes, M., Martin, J. E., & Bird, A. (2001) · Nature Genetics · doi:10.1038/85899 · Cited by 1,558
Behavioural phenotyping assays for mouse models of autism
Silverman, J. L., Yang, M., Lord, C., & Crawley, J. N. (2010) · Nature Reviews Neuroscience · doi:10.1038/nrn2851 · Cited by 1,462
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., & Sun, Y. E. (2003) · Science · doi:10.1126/science.1090842 · Cited by 1,405
Epigenetic regulation in psychiatric disorders
Tsankova, N., Renthal, W., Kumar, A., & Nestler, E. J. (2007) · Nature reviews. Neuroscience · doi:10.1038/nrn2132 · Cited by 1,400
The Story of Rett Syndrome: From Clinic to Neurobiology
Chahrour, M., & Zoghbi, H. Y. (2007) · Neuron · doi:10.1016/j.neuron.2007.10.001 · Cited by 1,265
Derepression of BDNF Transcription Involves Calcium-Dependent Phosphorylation of MeCP2
Chen, W. G., Chang, Q., Lin, Y., Meissner, A., West, A. E., Griffith, E. C., Jaenisch, R., & Greenberg, M. E. (2003) · Science · doi:10.1126/science.1086446 · Cited by 1,232
Self-citationReversal of Neurological Defects in a Mouse Model of Rett Syndrome
Guy, J., Gan, J., Selfridge, J., Cobb, S., & Bird, A. (2007) · Science · doi:10.1126/science.1138389 · Cited by 1,230
Interneuron dysfunction in psychiatric disorders
Marín, O. (2012) · Nature Reviews Neuroscience · doi:10.1038/nrn3155 · Cited by 1,190
Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes
Chao, H.-T., Chen, H., Samaco, R. C., Xue, M., Chahrour, M., Yoo, J., Neul, J. L., Gong, S., Lu, H.-C., Heintz, N., et al. (2010) · Nature · doi:10.1038/nature09582 · Cited by 1,168
Emerging roles of astrocytes in neural circuit development
Clarke, L. E., & Barres, B. A. (2013) · Nature Reviews Neuroscience · doi:10.1038/nrn3484 · Cited by 975
REST and Its Corepressors Mediate Plasticity of Neuronal Gene Chromatin throughout Neurogenesis
Ballas, N., Grunseich, C., Lu, D. D., Speh, J. C., & Mandel, G. (2005) · Cell · doi:10.1016/j.cell.2005.03.013 · Cited by 950
Zhou, Z., Hong, E. J., Cohen, S., Zhao, W.-N., Ho, H.-Y. H., Schmidt, L., Chen, W. G., Lin, Y., Savner, E., Griffith, E. C., et al. (2006) · Neuron · doi:10.1016/j.neuron.2006.09.037 · Cited by 877
Flavell, S. W., & Greenberg, M. E. (2008) · Annual Review of Neuroscience · doi:10.1146/annurev.neuro.31.060407.125631 · Cited by 832
5-hmC–mediated epigenetic dynamics during postnatal neurodevelopment and aging
Szulwach, K. E., Li, X., Li, Y., Song, C., Wu, H., Dai, Q., Irier, H. A., Upadhyay, A. K., Gearing, M., Levey, A. I., et al. (2011) · Nature Neuroscience · doi:10.1038/nn.2959 · Cited by 843
Zoghbi, H. Y., & Bear, M. F. (2012) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a009886 · Cited by 797
In vivo interrogation of gene function in the mammalian brain using CRISPR-Cas9
Swiech, L., Heidenreich, M., Banerjee, A., Habib, N., Li, Y., Trombetta, J., Sur, M., & Zhang, F. (2015) · Nature Biotechnology · doi:10.1038/nbt.3055 · Cited by 772
Shahbazian, M. D., Young, J. I., Yuva‐Paylor, L. A., Spencer, C. M., Antalffy, B. A., Noebels, J. L., Armstrong, D. L., Paylor, R. E., & Zoghbi, H. Y. (2002) · Neuron · doi:10.1016/s0896-6273(02)00768-7 · Cited by 772
Postnatal neurodevelopmental disorders: meeting at the synapse?
Zoghbi, H. Y. (2003) · Science · doi:10.1126/science.1089071 · Cited by 691
Neuronal MeCP2 Is Expressed at Near Histone-Octamer Levels and Globally Alters the Chromatin State
Skene, P. J., Illingworth, R. S., Webb, S., Kerr, A. R. W., James, K. D., Turner, D. J., Andrews, R., & Bird, A. P. (2010) · Molecular Cell · doi:10.1016/j.molcel.2010.01.030 · Cited by 688
Astrocytes and disease: a neurodevelopmental perspective
Molofsky, A. V., Krenick, R., Ullian, E., Tsai, H.-H., Deneen, B., Richardson, W. D., Barres, B. A., & Rowitch, D. H. (2012) · Genes & Development · doi:10.1101/gad.188326.112 · Cited by 682
Dani, V. S., Chang, Q., Maffei, A., Turrigiano, G. G., Jaenisch, R., & Nelson, S. B. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0506071102 · Cited by 639
Self-citationMild overexpression of MeCP2 causes a progressive neurological disorder in mice
Collins, A. L., Levenson, J. M., Vilaythong, A. P., Richman, R., Armstrong, D. L., Noebels, J. L., David Sweatt, J., & Zoghbi, H. Y. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh282 · Cited by 626
The Comprehensive Knockout Mouse Project Consortium (2004) · Nature Genetics · doi:10.1038/ng0904-921 · Cited by 608
Takizawa, T., Nakashima, K., Namihira, M., Ochiai, W., Uemura, A., Yanagisawa, M., Fujita, N., Nakao, M., & Taga, T. (2001) · Developmental Cell · doi:10.1016/s1534-5807(01)00101-0 · Cited by 620
Wild-type microglia arrest pathology in a mouse model of Rett syndrome
Derecki, N. C., Cronk, J. C., Lu, Z., Xu, E., Abbott, S. B. G., Guyenet, P. G., & Kipnis, J. (2012) · Nature · doi:10.1038/nature10907 · Cited by 607
Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice
Tropea, D., Giacometti, E., Wilson, N. R., Beard, C., McCurry, C., Fu, D. D., Flannery, R., Jaenisch, R., & Sur, M. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0812394106 · Cited by 593
Self-citationLoss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome
Horike, S., Cai, S., Miyano, M., Cheng, J., & Kohwi-shigematsu, T. (2004) · Nature Genetics · doi:10.1038/ng1491 · Cited by 594
Epigenetic mechanisms in neurological diseases: genes, syndromes, and therapies
Urdinguio, R. G., Sanchez-Mut, J. V., & Esteller, M. (2009) · The Lancet Neurology · doi:10.1016/s1474-4422(09)70262-5 · Cited by 598
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. (2006) · Neuron · doi:10.1016/j.neuron.2005.12.027 · Cited by 578
Self-citationSearching for ways out of the autism maze: genetic, epigenetic and environmental clues
Persico, A. M., & Bourgeron, T. (2006) · Trends in Neurosciences · doi:10.1016/j.tins.2006.05.010 · Cited by 575
The “quad‐partite” synapse: Microglia‐synapse interactions in the developing and mature CNS
Schafer, D. P., Lehrman, E. K., & Stevens, B. (2013) · Glia · doi:10.1002/glia.22389 · Cited by 570
Role of brain-derived neurotrophic factor in Huntington's disease
Zuccato, C., & Cattaneo, E. F. (2007) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2007.01.003 · Cited by 568
Shahbazian, M. D. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.2.115 · Cited by 554
Autism spectrum disorder: neuropathology and animal models
Varghese, M., Keshav, N., Jacot-Descombes, S., Warda, T., Wicinski, B., Dickstein, D. L., Harony-Nicolas, H., De Rubeis, S., Drapeau, E., Buxbaum, J. D., et al. (2017) · Acta Neuropathologica · doi:10.1007/s00401-017-1736-4 · Cited by 536
Closely related proteins MBD2 and MBD3 play distinctive but interacting roles in mouse developmentPreprint
Hendrich, B., Guy, J., Ramsahoye, B. H., Wilson, V. A., & Bird, A. P. (2001) · Genes & Development · doi:10.1101/gad.194101 · Cited by 543
Gao, R., & Penzes, P. (2015) · Current Molecular Medicine · doi:10.2174/1566524015666150303003028 · Cited by 516
“MECP2-null mice exhibit most of the neurological phenotypes of Rett syndrome [231, 232], but regionspecific deletion of MECP2 can also recapitulate many of these behaviors.”
BackgroundThe Indispensable Roles of Microglia and Astrocytes during Brain Development
Reemst, K., Noctor, S. C., Lucassen, P. J., & Hol, E. M. (2016) · Frontiers in Human Neuroscience · doi:10.3389/fnhum.2016.00566 · Cited by 516
MeCP2 Controls Excitatory Synaptic Strength by Regulating Glutamatergic Synapse Number
Chao, H.-T., Zoghbi, H. Y., & Rosenmund, C. (2007) · Neuron · doi:10.1016/j.neuron.2007.08.018 · Cited by 511
Epigenetic mechanisms in cognition
Day, J. J., & Sweatt, J. D. (2011) · Neuron · doi:10.1016/j.neuron.2011.05.019 · Cited by 510
Weaving, L. S., Christodoulou, J., Williamson, S. L., Friend, K. L., McKenzie, O. L. D., Archer, H. L., Evans, J., Clarke, A. J., Pelka, G. J., Tam, P., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/426462 · Cited by 501
A role for glia in the progression of Rett’s syndrome
Lioy, D. T., Garg, S. K., Monaghan, C. E., Raber, J., Foust, K. D., Kaspar, B. K., Hirrlinger, P. G., Kirchhoff, F., Bissonnette, J. M., Ballas, N., et al. (2011) · Nature · doi:10.1038/nature10214 · Cited by 496
Cross talk between microRNA and epigenetic regulation in adult neurogenesis
Szulwach, K. E., Li, X., Smrt, R. D., Li, Y., Luo, Y., Lin, L., Santistevan, N. J., Li, W., Zhao, X., & Jin, P. (2010) · Journal of Cell Biology · doi:10.1083/jcb.200908151 · Cited by 493
Lund, A. H., & van Lohuizen, M. (2004) · Genes & Development · doi:10.1101/gad.1232504 · Cited by 489
DNA methylation and methyl-CpG binding proteins: developmental requirements and function
Bogdanović, O., & Veenstra, G. J. C. (2009) · Chromosoma · doi:10.1007/s00412-009-0221-9 · Cited by 503
Non–cell autonomous influence of MeCP2-deficient glia on neuronal dendritic morphology
Ballas, N., Lioy, D. T., Grunseich, C., & Mandel, G. (2009) · Nature Neuroscience · doi:10.1038/nn.2275 · Cited by 466
Corepressor-Dependent Silencing of Chromosomal Regions Encoding Neuronal Genes
Lunyak, V. V., Burgess, R., Prefontaine, G. G., Nelson, C., Sze, S.-H., Chenoweth, J., Schwartz, P., Pevzner, P. A., Glass, C., Mandel, G., et al. (2002) · Science · doi:10.1126/science.1076469 · Cited by 472
Epigenetic mechanisms in neurological disease
Jakovcevski, M., & Akbarian, S. (2012) · Nature Medicine · doi:10.1038/nm.2828 · Cited by 450
Self-citationKishi, N., & Macklis, J. D. (2004) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2004.07.006 · Cited by 445
High levels of AAV vector integration into CRISPR-induced DNA breaks
Hanlon, K. S., Kleinstiver, B. P., Garcia, S. P., Zaborowski, M. P., Volak, A., Spirig, S. E., Muller, A., Sousa, A. A., Tsai, S. Q., Bengtsson, N. E., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-12449-2 · Cited by 431
DNA methylation and the regulation of gene transcription
Attwood, J. T., Yung, R. L., & Richardson, B. C. (2002) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-002-8420-z · Cited by 440
Samaco, R. C., Hogart, A., & LaSalle, J. M. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddi045 · Cited by 425
The Role of MeCP2 in the Brain
Guy, J., Cheval, H., Selfridge, J., & Bird, A. P. (2011) · Annual Review of Cell and Developmental Biology · doi:10.1146/annurev-cellbio-092910-154121 · Cited by 423
Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor
Lyst, M. J., Ekiert, R., Ebert, D. H., Merusi, C., Nowak, J., Selfridge, J., Guy, J., Kastan, N. R., Robinson, N. D., de Lima Alves, F., et al. (2013) · Nature Neuroscience · doi:10.1038/nn.3434 · Cited by 410
N-CoR Mediates DNA Methylation-Dependent Repression through a Methyl CpG Binding Protein Kaiso
Yoon, H.-G., Chan, D. W., Reynolds, A. B., Qin, J., & Wong, J. (2003) · Molecular Cell · doi:10.1016/j.molcel.2003.08.008 · Cited by 408
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Cohen, S., & Greenberg, M. E. (2008) · Annual Review of Cell and Developmental Biology · doi:10.1146/annurev.cellbio.24.110707.175235 · Cited by 400
The methyl-CpG binding domain and the evolving role of DNA methylation in animals
Hendrich, B., & Tweedie, S. (2003) · Trends in Genetics · doi:10.1016/s0168-9525(03)00080-5 · Cited by 417
Bhatt, D. H., Zhang, S., & Gan, W.-B. (2009) · Annual Review of Physiology · doi:10.1146/annurev.physiol.010908.163140 · Cited by 380
Zhao, X., Ueba, T., Christie, B. R., Barkho, B. Z., McConnell, M. J., Nakashima, K., Lein, E. S., Eadie, B. D., Willhoite, A. R., Muotri, A. R., et al. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1131928100 · Cited by 384
Epigenetic regulation of gene expression in physiological and pathological brain processes
Gräff, J., Kim, D., Dobbin, M. M., & Tsai, L.-H. (2011) · Physiological Reviews · doi:10.1152/physrev.00012.2010 · Cited by 373
Expression of MeCP2 in postmitotic neurons rescues Rett syndrome in mice
Luikenhuis, S., Giacometti, E., Beard, C., & Jaenisch, R. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0401626101 · Cited by 359
Self-citationRett syndrome: a complex disorder with simple roots
Lyst, M. J., & Bird, A. (2015) · Nature Reviews Genetics · doi:10.1038/nrg3897 · Cited by 353
Methyl CpG-binding proteins and transcriptional repression
Wade, P. A. (2001) · BioEssays · doi:10.1002/bies.10008 · Cited by 351
Tudor, M., Akbarian, S., Chen, R. Z., & Jaenisch, R. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.242566899 · Cited by 352
Self-citationHippocampal synaptic plasticity is impaired in the Mecp2-null mouse model of Rett syndrome
Asaka, Y., Jugloff, D. G. M., Zhang, L., Eubanks, J. H., & Fitzsimonds, R. M. (2005) · Neurobiology of Disease · doi:10.1016/j.nbd.2005.07.005 · Cited by 349
DNA Binding Selectivity of MeCP2 Due to a Requirement for A/T Sequences Adjacent to Methyl-CpG
Klose, R. J., Sarraf, S. A., Schmiedeberg, L., McDermott, S. M., Stancheva, I., & Bird, A. P. (2005) · Molecular Cell · doi:10.1016/j.molcel.2005.07.021 · Cited by 351
Nurturing brain plasticity: Impact of environmental enrichment
Baroncelli, L., Braschi, C., Spolidoro, M., Begenisic, T., Sale, A., & Maffei, L. (2010) · Cell Death & Differentiation · doi:10.1038/cdd.2009.193 · Cited by 330
Methyl-CpG-binding Protein, MeCP2, Is a Target Molecule for Maintenance DNA Methyltransferase, Dnmt1
Kimura, H., & Shiota, K. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m209923200 · Cited by 335
DNA Methylation, Its Mediators and Genome Integrity
Meng, H., Cao, Y., Qin, J., Song, X., Zhang, Q., Shi, Y. S., & Cao, L. (2015) · International Journal of Biological Sciences · doi:10.7150/ijbs.11218 · Cited by 346
Alterations of GABAergic Signaling in Autism Spectrum Disorders
Pizzarelli, R., & Cherubini, E. (2011) · Neural Plasticity · doi:10.1155/2011/297153 · Cited by 338
Mari, F., Azimonti, S., Bertani, I., Bolognese, F., Colombo, E. V., Caselli, R., Scala, E., Longo, I., Grosso, S., Pescucci, C., et al. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi198 · Cited by 326
Epigenetic codes in cognition and behaviour
Gräff, J., & Mansuy, I. M. (2008) · Behavioural Brain Research · doi:10.1016/j.bbr.2008.01.021 · Cited by 328
Li, Y., Wang, H., Muffat, J., Cheng, A. W., Orlando, D. A., Lovén, J., Kwok, S., Feldman, D., Bateup, H. S., Gao, Q., et al. (2013) · Cell stem cell · doi:10.1016/j.stem.2013.09.001 · Cited by 315
Self-citationAutism: A “Critical Period” Disorder?
LeBlanc, J. J., & Fagiolini, M. (2011) · Neural Plasticity · doi:10.1155/2011/921680 · Cited by 301
Brain function and chromatin plasticity
Dulac, C. G. (2010) · Nature · doi:10.1038/nature09231 · Cited by 312
The GABAA Receptor as a Therapeutic Target for Neurodevelopmental Disorders
Braat, S., & Kooy, R. F. (2015) · Neuron · doi:10.1016/j.neuron.2015.03.042 · Cited by 294
MeCP2 dysfunction in Rett syndrome and related disorders
Moretti, P. M., & Zoghbi, H. Y. (2006) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2006.04.009 · Cited by 300
Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized
Bienvenu, T., & Chelly, J. (2006) · Nature Reviews Genetics · doi:10.1038/nrg1878 · Cited by 289
Mellios, N., Feldman, D., Sheridan, S. D., Ip, J. P. K., Kwok, S., Amoah, S. K., Rosen, B. P., Rodriguez, B. A., Crawford, B., Swaminathan, R., et al. (2017) · Molecular Psychiatry · doi:10.1038/mp.2017.86 · Cited by 291
Self-citationLessons learned from studying syndromic autism spectrum disorders
Sztainberg, Y., & Zoghbi, H. Y. (2016) · Nature Neuroscience · doi:10.1038/nn.4420 · Cited by 305
Rett Syndrome Astrocytes Are Abnormal and Spread MeCP2 Deficiency through Gap Junctions
Maezawa, I., Swanberg, S. E., Harvey, D. J., LaSalle, J. M., & Jin, L. (2009) · Journal of Neuroscience · doi:10.1523/jneurosci.0324-09.2009 · Cited by 289
Neuropathology of Rett Syndrome
Armstrong, D. D. (2005) · Journal of Child Neurology · doi:10.1177/08830738050200090901 · Cited by 284
Fundamental Elements in Autism: From Neurogenesis and Neurite Growth to Synaptic Plasticity
Gilbert, J. P., & Man, H. (2017) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2017.00359 · Cited by 286
Belichenko, P. V., Wright, E. E., Belichenko, N. P., Masliah, E., Li, H. H., Mobley, W. C., & Francke, U. (2009) · Journal of Comparative Neurology · doi:10.1002/cne.22009 · Cited by 272
Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2
Giacometti, E., Luikenhuis, S., Beard, C., & Jaenisch, R. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0610593104 · Cited by 271
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Metadata
- Authors
- Chen, R. Z., Akbarian, S., Tudor, M., & Jaenisch, R.
- Affiliations
- Whitehead Institute for Biomedical Research (US)
- Massachusetts General Hospital (US)
- Corresponding author
- Jaenisch, Rudolf
- Venue
- Nature Genetics
- Published
- 2001-03
- Volume
- 27
- Issue
- 3
- Pages
- 327-331
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1488115555
- Cited by
- 1,275
- References
- 29
- Citations by year
- 2026: 19 · 2025: 33 · 2024: 33 · 2023: 28 · 2022: 40 · 2021: 40 · 2020: 37 · 2019: 41 · 2018: 41 · 2017: 68 · 2016: 68 · 2015: 70 · 2014: 74 · 2013: 77 · 2012: 99
- FWCI
- 28.57
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
- Keywords
- MeCP2, MeCP2 deficiency, Rett syndrome, DNA methylation, transcriptional repression, chromatin remodeling, neuronal dysfunction, mouse model
- MeSH terms
- Animals, Cell Differentiation, Central Nervous System, Chromosomal Proteins, Non-Histone, Disease Models, Animal, DNA-Binding Proteins, Female, Humans, Male, Mice, Inbred BALB C, Mice, Inbred C57BL, Neurons, Phenotype, Repressor Proteins, Rett Syndrome, CpG Islands, Cell Size, Mice, Methyl-CpG-Binding Protein 2
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