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Disruption of DNA-methylation-dependent long gene repression in Rett syndrome
Open accessAbstract
Disruption of the MECP2 gene leads to Rett syndrome (RTT), a severe neurological disorder with features of autism. MECP2 encodes a methyl-DNA-binding protein that has been proposed to function as a transcriptional repressor, but despite numerous mouse studies examining neuronal gene expression in Mecp2 mutants, no clear model has emerged for how MeCP2 protein regulates transcription. Here we identify a genome-wide length-dependent increase in gene expression in MeCP2 mutant mouse models and human RTT brains. We present evidence that MeCP2 represses gene expression by binding to methylated CA sites within long genes, and that in neurons lacking MeCP2, decreasing the expression of long genes attenuates RTT-associated cellular deficits. In addition, we find that long genes as a population are enriched for neuronal functions and selectively expressed in the brain. These findings suggest that mutations in MeCP2 may cause neurological dysfunction by specifically disrupting long gene expression in the brain.
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“Independent studies have reported that MECP2 binds to both 5mCA and 5mCG sites with high affinity (37, 39, 40).”
From Dynamic DNA methylation: In the right place at the right time (2018) · cites this paper as [39]
In the citing paper
“In neurons, intragenic 5mCH quantitatively modulates gene expression by interacting with MECP2 and recruiting NCoR corepressor complex to chromatin (37–40).”
From Dynamic DNA methylation: In the right place at the right time (2018) · cites this paper as [39]
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“MECP2 and 5mCA dependent repression is particularly critical for long genes (with a length greater than 100kb), many of which have neuronal functions (39).”
From Dynamic DNA methylation: In the right place at the right time (2018) · cites this paper as [39]
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Cites
Fast and accurate short read alignment with Burrows-Wheeler transform
Li, H., & Durbin, R. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp324 · Cited by 58,607
STAR: ultrafast universal RNA-seq aligner
Dobin, A., Davis, C. A., Schlesinger, F., Drenkow, J., Zaleski, C., Jha, S., Batut, P., Chaisson, M., & Gingeras, T. R. (2013) · Bioinformatics · doi:10.1093/bioinformatics/bts635 · Cited by 51,709
Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources
Huang, D. W., Sherman, B. T., & Lempicki, R. A. (2009) · Nature Protocols · doi:10.1038/nprot.2008.211 · Cited by 35,890
Mapping and quantifying mammalian transcriptomes by RNA-Seq
Mortazavi, A., Williams, B. A., McCue, K., Schaeffer, L., & Wold, B. (2008) · Nature Methods · doi:10.1038/nmeth.1226 · Cited by 13,696
Trapnell, C., Roberts, A., Goff, L. A., Pertea, G. M., Kim, D., Kelley, D. R., Pimentel, H., Salzberg, S. L., Rinn, J. L., & Pachter, L. S. (2012) · Nature Protocols · doi:10.1038/nprot.2012.016 · Cited by 12,145
The Nuclear DNA Base 5-Hydroxymethylcytosine Is Present in Purkinje Neurons and the Brain
Kriaucionis, S., & Heintz, N. (2009) · Science · doi:10.1126/science.1169786 · Cited by 2,700
Mcgill, R., Tukey, J. W., & Larsen, W. A. (1978) · The American Statistician · doi:10.1080/00031305.1978.10479236 · Cited by 2,618
Widespread transcription at neuronal activity-regulated enhancers
Kim, T.-K., Hemberg, M., Gray, J. M., Costa, A. M., Bear, D. M., Wu, J., Harmin, D. A., Laptewicz, M., Barbara-Haley, K., Kuersten, S., et al. (2010) · Nature · doi:10.1038/nature09033 · Cited by 2,450
Self-citationMeasurement of mRNA abundance using RNA-seq data: RPKM measure is inconsistent among samples
Wagner, G. P., Kin, K., & Lynch, V. J. (2012) · Theory in Biosciences · doi:10.1007/s12064-012-0162-3 · Cited by 2,085
FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism
Darnell, J. C., Van Driesche, S. J., Zhang, C., Hung, K. Y. S., Mele, A., Fraser, C. E., Stone, E. F., Chen, C., Fak, J. J., Chi, S. W., et al. (2011) · Cell · doi:10.1016/j.cell.2011.06.013 · Cited by 2,072
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Greenberg, M., & Bourc’his, D. (2019) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-019-0159-6 · Cited by 2,272
Self-citationThe DNA methyltransferase family: a versatile toolkit for epigenetic regulation
Lyko, F. (2017) · Nature Reviews Genetics · doi:10.1038/nrg.2017.80 · Cited by 1,510
From the genetic architecture to synaptic plasticity in autism spectrum disorder
Bourgeron, T. (2015) · Nature Reviews Neuroscience · doi:10.1038/nrn3992 · Cited by 975
Epigenomic Signatures of Neuronal Diversity in the Mammalian Brain
Mo, A., Mukamel, E. A., Davis, F. P., Luo, C., Henry, G. L., Picard, S., Urich, M. A., Nery, J. R., Sejnowski, T. J., Lister, R., et al. (2015) · Neuron · doi:10.1016/j.neuron.2015.05.018 · Cited by 739
Dynamic DNA methylation: In the right place at the right time
Luo, C., Hajkova, P., & Ecker, J. R. (2018) · Science · doi:10.1126/science.aat6806 · Cited by 668
Transcription factors as readers and effectors of DNA methylation
Zhu, H., Wang, G., & Qian, J. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2016.83 · Cited by 649
Activity-Regulated Transcription: Bridging the Gap between Neural Activity and Behavior
Yap, E.-L., & Greenberg, M. E. (2018) · Neuron · doi:10.1016/j.neuron.2018.10.013 · Cited by 706
Self-citationMulti-omics single-cell data integration and regulatory inference with graph-linked embedding
Cao, Z.-J., & Gao, G. (2022) · Nature Biotechnology · doi:10.1038/s41587-022-01284-4 · Cited by 616
Single-nucleus and single-cell transcriptomes compared in matched cortical cell types
Bakken, T. E., Hodge, R. D., Miller, J. A., Yao, Z., Nguyen, T. N., Aevermann, B., Barkan, E., Bertagnolli, D., Casper, T., Dee, N., et al. (2018) · PLoS ONE · doi:10.1371/journal.pone.0209648 · Cited by 608
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Lenče, T., Akhtar, J., Bayer, M., Schmid, K., Spindler, L., Ho, C. H., Kreim, N., Andrade-Navarro, M. A., Poeck, B., Helm, M., et al. (2016) · Nature · doi:10.1038/nature20568 · Cited by 552
Methyl-cpG-binding domain proteins: readers of the epigenome
Du, Q., Luu, P.-L., Stirzaker, C., & Clark, S. J. (2015) · Epigenomics · doi:10.2217/epi.15.39 · Cited by 544
Mechanisms of early placental development in mouse and humans
Hemberger, M., Hanna, C. W., & Dean, W. (2019) · Nature Reviews Genetics · doi:10.1038/s41576-019-0169-4 · Cited by 515
CpG and non-CpG methylation in epigenetic gene regulation and brain function
Jang, H., Shin, W., Lee, J., & Do, J. (2017) · Genes · doi:10.3390/genes8060148 · Cited by 427
Epigenetic mechanisms in neurogenesis
Yao, B., Christian, K. M., He, C., Jin, P., Ming, G., & Song, H. (2016) · Nature reviews. Neuroscience · doi:10.1038/nrn.2016.70 · Cited by 406
Cerebral Organoids Recapitulate Epigenomic Signatures of the Human Fetal Brain
Luo, C., Lancaster, M. A., Castanon, R., Nery, J. R., Knoblich, J. A., & Ecker, J. R. (2016) · Cell Reports · doi:10.1016/j.celrep.2016.12.001 · Cited by 370
Epigenetic regulatory functions of DNA modifications: 5-methylcytosine and beyond
Breiling, A., & Lyko, F. (2015) · Epigenetics & Chromatin · doi:10.1186/s13072-015-0016-6 · Cited by 379
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Lyst, M. J., & Bird, A. (2015) · Nature Reviews Genetics · doi:10.1038/nrg3897 · Cited by 353
Intron retention as a component of regulated gene expression programs
Jacob, A. G., & Smith, C. W. J. (2017) · Human Genetics · doi:10.1007/s00439-017-1791-x · Cited by 339
Chen, L., Chen, K., Lavery, L. A., Baker, S. A., Shaw, C. A., Li, W., & Zoghbi, H. Y. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1505909112 · Cited by 301
DNA methylation atlas of the mouse brain at single-cell resolution
Liu, H., Zhou, J., Tian, W., Luo, C., Bartlett, A., Aldridge, A., Lucero, J., Osteen, J. K., Nery, J. R., Chen, H., et al. (2021) · Nature · doi:10.1038/s41586-020-03182-8 · Cited by 289
Non-CG Methylation in the Human Genome
He, Y., & Ecker, J. R. (2015) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-090413-025437 · Cited by 275
Signalling pathways in autism spectrum disorder: mechanisms and therapeutic implications
Jiang, C.-C., Lin, L., Long, S., Ke, X., Fukunaga, K., Lu, Y., & Han, F. (2022) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-022-01081-0 · Cited by 295
McConnell, M. J., Moran, J. V., Abyzov, A., Akbarian, S., Bae, T., Cortes-Ciriano, I., Erwin, J. A., Fasching, L., Flasch, D. A., Freed, D., et al. (2017) · Science · doi:10.1126/science.aal1641 · Cited by 262
Brown-adipose-tissue macrophages control tissue innervation and homeostatic energy expenditure
Wolf, Y., Boura‐Halfon, S., Cortese, N., Haimon, Z., Shalom, H. S., Kuperman, Y., Kalchenko, V., Brandis, A. S., David, E., Segal-Hayoun, Y., et al. (2017) · Nature Immunology · doi:10.1038/ni.3746 · Cited by 264
Rett syndrome: insights into genetic, molecular and circuit mechanisms
Ip, J. P. K., Mellios, N., & Sur, M. (2018) · Nature reviews. Neuroscience · doi:10.1038/s41583-018-0006-3 · Cited by 252
Kinde, B., Gabel, H. W., Gilbert, C. S., Griffith, E. C., & Greenberg, M. E. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1411269112 · Cited by 236
Self-citationNondestructive, base-resolution sequencing of 5-hydroxymethylcytosine using a DNA deaminase
Schutsky, E. K., DeNizio, J. E., Hu, P., Liu, M. Y., Nabel, C. S., Fabyanic, E. B., Hwang, Y., Bushman, F. D., Wu, H., & Kohli, R. M. (2018) · Nature Biotechnology · doi:10.1038/nbt.4204 · Cited by 234
Targeted Intron Retention and Excision for Rapid Gene Regulation in Response to Neuronal Activity
Mauger, O., Lemoine, F., & Scheiffele, P. (2016) · Neuron · doi:10.1016/j.neuron.2016.11.032 · Cited by 228
RNA-binding proteins in neurodegeneration: mechanisms in aggregatePreprint
Conlon, E. G., & Manley, J. L. (2017) · Genes & Development · doi:10.1101/gad.304055.117 · Cited by 228
MECP2 disorders: from the clinic to mice and back
Lombardi, L. M., Baker, S. A., & Zoghbi, H. Y. (2015) · Journal of Clinical Investigation · doi:10.1172/jci78167 · Cited by 221
Cell-type specialization is encoded by specific chromatin topologies
Winick‐Ng, W., Kukalev, A., Harabula, I., Zea-Redondo, L., Szabó, D., Meijer, M., Serebreni, L., Zhang, Y., Bianco, S., Chiariello, A. M., et al. (2021) · Nature · doi:10.1038/s41586-021-04081-2 · Cited by 214
Clinical and biological progress over 50 years in Rett syndrome
Leonard, H., Cobb, S., & Downs, J. A. (2016) · Nature Reviews Neurology · doi:10.1038/nrneurol.2016.186 · Cited by 212
Allosteric control of mammalian DNA methyltransferases – a new regulatory paradigm
Jeltsch, A., & Jurkowska, R. Z. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkw723 · Cited by 218
Kaluscha, S., Domcke, S., Wirbelauer, C., Stadler, M. B., Durdu, S., Burger, L., & Schübeler, D. (2022) · Nature Genetics · doi:10.1038/s41588-022-01241-6 · Cited by 216
Early-Life Gene Expression in Neurons Modulates Lasting Epigenetic States
Stroud, H., Su, S. C., Hrvatin, S., Greben, A. W., Renthal, W. R., Boxer, L. D., Nagy, M. A., Hochbaum, D. R., Kinde, B., Gabel, H. W., et al. (2017) · Cell · doi:10.1016/j.cell.2017.09.047 · Cited by 193
Self-citationThe translatome of neuronal cell bodies, dendrites, and axons
Glock, C., Biever, A., Tushev, G., Nassim-Assir, B., Kao, A. H., Bartnik, I., Dieck, S. T., & Schuman, E. M. (2021) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2113929118 · Cited by 192
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Furlanis, E., & Scheiffele, P. (2018) · Annual Review of Cell and Developmental Biology · doi:10.1146/annurev-cellbio-100617-062826 · Cited by 176
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Tillotson, R., & Bird, A. P. (2019) · Journal of Molecular Biology · doi:10.1016/j.jmb.2019.10.004 · Cited by 179
Spatiotemporal DNA methylome dynamics of the developing mouse fetus
He, Y., Hariharan, M., Gorkin, D. U., Dickel, D. E., Luo, C., Castanon, R., Nery, J. R., Lee, A. Y., Zhao, Y., Huang, H., et al. (2020) · Nature · doi:10.1038/s41586-020-2119-x · Cited by 165
Neuropathology of suicide: Recent findings and future directions
Lutz, P.-E., Mechawar, N., & Turecki, G. (2017) · Molecular Psychiatry · doi:10.1038/mp.2017.141 · Cited by 158
Gene Length Matters in Neurons
Zylka, M. J., Simon, J. M., & Philpot, B. D. (2015) · Neuron · doi:10.1016/j.neuron.2015.03.059 · Cited by 148
Mellén, M., Ayata, P., & Heintz, N. (2017) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1708044114 · Cited by 151
Rett Syndrome: Crossing the Threshold to Clinical Translation
Katz, D. M., Bird, A., Coenraads, M., Gray, S. J., Menon, D. U., Philpot, B. D., & Tarquinio, D. C. (2016) · Trends in Neurosciences · doi:10.1016/j.tins.2015.12.008 · Cited by 150
Lagger, S., Connelly, J. C., Schweikert, G., Webb, S., Selfridge, J., Ramsahoye, B. H., Yu, M., DeSousa, D., Seiser, C., He, C., et al. (2017) · PLoS Genetics · doi:10.1371/journal.pgen.1006793 · Cited by 145
Phan, B. N., Bohlen, J. F., Davis, B. A., Ye, Z., Chen, H.-Y., Mayfield, B., Sripathy, S. R., Page, S. C., Campbell, M. N., Smith, H. L., et al. (2020) · Nature Neuroscience · doi:10.1038/s41593-019-0578-x · Cited by 146
Ernst, C. (2016) · Trends in Neurosciences · doi:10.1016/j.tins.2016.03.001 · Cited by 145
MeCP2: The Genetic Driver of Rett Syndrome Epigenetics
Good, K., Vincent, J. B., & Ausió, J. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.620859 · Cited by 149
Methylation across the central dogma in health and diseases: new therapeutic strategies
Liu, R., Zhao, E., Yu, H., Yuan, C., Abbas, M. N., & Cui, H. (2023) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-023-01528-y · Cited by 155
Single-cell DNA methylome and 3D multi-omic atlas of the adult mouse brain
Liu, H., Zeng, Q., Zhou, J., Bartlett, A., Wang, B.-A., Berube, P., Tian, W., Kenworthy, M., Altshul, J., Nery, J. R., et al. (2023) · Nature · doi:10.1038/s41586-023-06805-y · Cited by 139
Epigenetic Etiology of Intellectual Disability
Iwase, S., Bérubé, N. G., Zhou, Z., Kasri, N. N., Battaglioli, E., Scandaglia, M., & Barco, Á. (2017) · Journal of Neuroscience · doi:10.1523/jneurosci.1840-17.2017 · Cited by 144
Epigenetic regulation of gene expression in cancer: techniques, resources and analysis
Kagohara, L. T., Stein-O’Brien, G., Kelley, D. Z., Flam, E. L., Wick, H. C., Danilova, L., Easwaran, H., Favorov, A. V., Qian, J. X., Gaykalova, D. A., et al. (2017) · Briefings in Functional Genomics · doi:10.1093/bfgp/elx018 · Cited by 136
Epigenetic Regulations in Neuropsychiatric Disorders
Kuehner, J. N., Bruggeman, E. C., Wen, Z., & Yao, B. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.00268 · Cited by 144
S-Adenosyl Methionine and Transmethylation Pathways in Neuropsychiatric Diseases Throughout Life
Gao, J., Cahill, C. M., Huang, X., Roffman, J. L., Lamon‐Fava, S., D, M. F. M., Mischoulon, D., & Rogers, J. T. (2018) · Neurotherapeutics · doi:10.1007/s13311-017-0593-0 · Cited by 141
The emergence of the brain non-CpG methylation system in vertebrates
de Mendoza, A., Poppe, D., Buckberry, S., Pflueger, J., Albertin, C. B., Daish, T., Bertrand, S., de la Calle‐Mustienes, E., Gómez-Skármeta, J. L., Nery, J. R., et al. (2021) · Nature Ecology & Evolution · doi:10.1038/s41559-020-01371-2 · Cited by 134
The Role of Epigenetic Mechanisms in the Regulation of Gene Expression in the Nervous System
Cholewa-Waclaw, J., Bird, A. P., von Schimmelmann, M. J., Schaefer, A., Yu, H., Song, H., Madabhushi, R., & Tsai, L. (2016) · Journal of Neuroscience · doi:10.1523/jneurosci.2492-16.2016 · Cited by 136
The DNA Methylation in Neurological Diseases
Younesian, S., Yousefi, A., Momeny, M., Ghaffari, S. H., & Bashash, D. (2022) · Cells · doi:10.3390/cells11213439 · Cited by 141
Pearson, B. L., Simon, J. M., McCoy, E. S., Salazar, G., Fragola, G., & Zylka, M. J. (2016) · Nature Communications · doi:10.1038/ncomms11173 · Cited by 127
Characterization of human mosaic Rett syndrome brain tissue by single-nucleus RNA sequencing
Renthal, W. R., Boxer, L. D., Hrvatin, S., Li, E., Silberfeld, A., Nagy, M. A., Griffith, E. C., Vierbuchen, T., & Greenberg, M. E. (2018) · Nature Neuroscience · doi:10.1038/s41593-018-0270-6 · Cited by 122
Self-citationAging is associated with a systemic length-associated transcriptome imbalance
Stoeger, T., Grant, R. A., McQuattie‐Pimentel, A. C., Anekalla, K. R., Liu, S. S., Navarro, H. T., Singer, B. D., Abdala‐Valencia, H., Schwake, M., Tétreault, M., et al. (2022) · Nature Aging · doi:10.1038/s43587-022-00317-6 · Cited by 129
A genomic atlas of systemic interindividual epigenetic variation in humans
Gunasekara, C., Scott, C. A., Laritsky, E., Baker, M. S., MacKay, H., Duryea, J., Kessler, N. J., Hellenthal, G., Wood, A. C., Hodges, K. R., et al. (2019) · Genome biology · doi:10.1186/s13059-019-1708-1 · Cited by 119
DNA methylation in the gene body influences MeCP2-mediated gene repression
Kinde, B., Wu, D. Y., Greenberg, M. E., & Gabel, H. W. (2016) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1618737114 · Cited by 118
Self-citationBiotin tagging of MeCP2 in mice reveals contextual insights into the Rett syndrome transcriptome
Johnson, B. S., Zhao, Y.-T., Fasolino, M., Lamonica, J. M., Kim, Y. J., Georgakilas, G. K., Wood, K. H., Bu, D. D., Cui, Y., Goffin, D., et al. (2017) · Nature Medicine · doi:10.1038/nm.4406 · Cited by 120
U1 snRNP telescripting regulates a size–function-stratified human genome
Oh, J., Di, C., Venters, C. C., Guo, J., Arai, C., So, B. R., Pinto, A. M., Zhang, Z., Wan, L., Younis, I., et al. (2017) · Nature Structural & Molecular Biology · doi:10.1038/nsmb.3473 · Cited by 118
Sawicka, K., Hale, C. R., Park, C. Y., Fak, J. J., Gresack, J. E., Driesche, S. J. V., Kang, J. J., Darnell, J. C., & Darnell, R. B. (2019) · eLife · doi:10.7554/elife.46919 · Cited by 118
MeCP2 Represses the Rate of Transcriptional Initiation of Highly Methylated Long Genes
Boxer, L. D., Renthal, W. R., Greben, A. W., Whitwam, T., Silberfeld, A., Stroud, H., Li, E., Yang, M. G., Kinde, B., Griffith, E. C., et al. (2019) · Molecular Cell · doi:10.1016/j.molcel.2019.10.032 · Cited by 111
Self-citationHistone deacetylase 3 associates with MeCP2 to regulate FOXO and social behavior
Nott, A., Cheng, J., Gao, F., Lin, Y.-T., Gjoneska, E., Ko, T., Minhas, P., Zamudio, A. V., Meng, J., Zhang, F., et al. (2016) · Nature Neuroscience · doi:10.1038/nn.4347 · Cited by 110
Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder
Banerjee, A., Miller, M. T., Li, K., Sur, M., & Kaufmann, W. E. (2018) · Brain · doi:10.1093/brain/awy323 · Cited by 113
Substantial DNA methylation differences between two major neuronal subtypes in human brain
Kozlenkov, A., Wang, M., Roussos, P., Rudchenko, S., Barbu, M., Bibikova, M. V., Klotzle, B., Dwork, A. J., Zhang, B., Hurd, Y. L., et al. (2015) · Nucleic Acids Research · doi:10.1093/nar/gkv1304 · Cited by 129
Nascent DNA methylome mapping reveals inheritance of hemimethylation at CTCF/cohesin sites
Xu, C., & Corces, V. G. (2018) · Science · doi:10.1126/science.aan5480 · Cited by 106
A unique role for DNA (hydroxy)methylation in epigenetic regulation of human inhibitory neurons
Kozlenkov, A., Li, J., Apontes, P., Hurd, Y. L., Byne, W. M., Koonin, E. V., Wegner, M., Mukamel, E. A., & Dracheva, S. (2018) · Science Advances · doi:10.1126/sciadv.aau6190 · Cited by 103
Loss of Sfpq Causes Long-Gene Transcriptopathy in the Brain
Takeuchi, A., Iida, K., Tsubota, T., Hosokawa, M., Denawa, M., Brown, J. B., Ninomiya, K., Ito, M., Kimurâ, H., Abe, T., et al. (2018) · Cell Reports · doi:10.1016/j.celrep.2018.03.141 · Cited by 107
Oh, Y. M., Lee, S. W., Kim, W. K., Chen, S., Church, V. A., Cates, K., Li, T., Zhang, B., Dolle, R. E., Dahiya, S., et al. (2022) · Nature Neuroscience · doi:10.1038/s41593-022-01185-4 · Cited by 100
Brown, K., Selfridge, J., Lagger, S., Connelly, J. C., Sousa, D. D., Kerr, A. R. W., Webb, S., Guy, J., Merusi, C., Koerner, M. V., et al. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv496 · Cited by 99
Transcription-dependent regulation of replication dynamics modulates genome stability
Blin, M., Tallec, B. L., Nähse, V., Schmidt, M., Brossas, C., Millot, G. A., Prioleau, M., & Debatisse, M. (2018) · Nature Structural & Molecular Biology · doi:10.1038/s41594-018-0170-1 · Cited by 98
MECP2 regulates cortical plasticity underlying a learned behaviour in adult female mice
Krishnan, K., Lau, B. Y. B., Ewall, G., Huang, Z. J., & Shea, S. D. (2017) · Nature Communications · doi:10.1038/ncomms14077 · Cited by 101
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Benevento, M., Iacono, G., Selten, M. M., Ba, W., Oudakker, A. R., Frega, M., Keller, J., Mancini, R., Lewerissa, E., Kleefstra, T., et al. (2016) · Neuron · doi:10.1016/j.neuron.2016.06.003 · Cited by 95
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Massey, T. H., & Jones, L. (2018) · Disease Models & Mechanisms · doi:10.1242/dmm.031930 · Cited by 101
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Gallegos, D. A., Chan, U., Chen, L., & West, A. E. (2018) · Trends in Neurosciences · doi:10.1016/j.tins.2018.02.009 · Cited by 96
Xiong, F., Wang, R., Lee, J.-H., Li, S., Chen, S.-F., Liao, Z., Hasani, L. A., Nguyen, P. T.-M., Zhu, X., Krakowiak, J., et al. (2021) · Cell Research · doi:10.1038/s41422-021-00515-8 · Cited by 105
MECP2, a multi-talented modulator of chromatin architecture
Ragione, F. D., Vacca, M., Fioriniello, S., Pepe, G., & D’Esposito, M. (2016) · Briefings in Functional Genomics · doi:10.1093/bfgp/elw023 · Cited by 95
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Irwin, R. E., Pentieva, K. D., Cassidy, T., Lees‐Murdock, D. J., McLaughlin, M., Prasad, G., McNulty, H., & Walsh, C. P. (2016) · Epigenomics · doi:10.2217/epi-2016-0003 · Cited by 98
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Sugino, K., Clark, E., Schulmann, A., Shima, Y., Wang, L., Hunt, D. L., Hooks, B. M., Tränkner, D., Chandrashekar, J., Picard, S., et al. (2019) · eLife · doi:10.7554/elife.38619 · Cited by 89
Pacheco, N. L., Heaven, M. R., Holt, L. M., Crossman, D. K., Boggio, K. J., Shaffer, S. A., Flint, D. L., & Olsen, M. L. (2017) · Molecular Autism · doi:10.1186/s13229-017-0174-4 · Cited by 90
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Rasmi, Y., Shokati, A., Hassan, A., Aziz, S. G., Bastani, S., Jalali, L., Moradi, F., & Alipour, S. (2022) · IBRO Neuroscience Reports · doi:10.1016/j.ibneur.2022.12.002 · Cited by 89
Wang, Z., Wang, L., Zhang, Q., Tang, B., & Zhang, C. (2017) · Chemical Science · doi:10.1039/c7sc04813k · Cited by 84
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Liu, K., Xu, C., Lei, M., Yang, A. W. H., Loppnau, P., Hughes, T. R., & Min, J. (2018) · Journal of Biological Chemistry · doi:10.1074/jbc.ra118.001785 · Cited by 83
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Jobe, E. M., & Zhao, X. (2016) · Brain Plasticity · doi:10.3233/bpl-160034 · Cited by 85
Zhao, B., Wu, Q., Ye, A. Y., Guo, J., Zheng, X., Yang, X., Yan, L., Liu, Q.-R., Hyde, T. M., Wei, L., et al. (2019) · PLOS Genetics · doi:10.1371/journal.pgen.1008043 · Cited by 83
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Zhu, X., Girardo, D., Govek, E., John, K., Mellén, M., Tamayo, P., Mesirov, J. P., & Hatten, M. E. (2015) · Neuron · doi:10.1016/j.neuron.2015.11.030 · Cited by 80
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Collins, B. E., & Neul, J. L. (2022) · Neuropsychiatric Disease and Treatment · doi:10.2147/ndt.s371483 · Cited by 85
Hall, H., Medina, P., Cooper, D. A., Escobedo, S. E., Rounds, J., Brennan, K., Vincent, C., Miura, P., Doerge, R. W., & Weake, V. M. (2017) · BMC Genomics · doi:10.1186/s12864-017-4304-3 · Cited by 80
Zhao, L., Liu, Y., Tong, D., Qin, Y., Yang, J., Xue, M., Du, N., Liu, L., Guo, B., Hou, N., et al. (2017) · EBioMedicine · doi:10.1016/j.ebiom.2017.01.021 · Cited by 82
Metadata
- Authors
- Gabel, H. W., Kinde, B., Stroud, H., Gilbert, C. S., Harmin, D. A., Kastan, N. R., Hemberg, M., Ebert, D. H., & Greenberg, M. E.
- Affiliations
- Harvard University (US)
- Boston Children's Hospital (US)
- Corresponding author
- Greenberg, Michael E.
- ORCID
- Venue
- Nature
- Published
- 2015-03-11
- Volume
- 522
- Issue
- 7554
- Pages
- 89-93
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC4480648
- OpenAlex
- W2035016973
- Cited by
- 569
- References
- 53
- Citations by year
- 2026: 29 · 2025: 42 · 2024: 41 · 2023: 39 · 2022: 50 · 2021: 49 · 2020: 51 · 2019: 52 · 2018: 55 · 2017: 61 · 2016: 67 · 2015: 31
- FWCI
- 48.74
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Digital Access to Scholarship at Harvard (DASH) (Harvard University) (submittedVersion, cc-by)
- RePEc: Research Papers in Economics (submittedVersion)
- Funders
- Howard Hughes Medical Institute
- National Institutes of Health (5r01ns048276-15)
- National Institute of General Medical Sciences (T32GM007753)
- National Institute of Neurological Disorders and Stroke (R01-NS-048276, 1R01NS048276)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (P30HD018655)
- 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 › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
- Keywords
- Rett syndrome, MeCP2, DNA methylation, gene length, gene expression inhibition, neuronal gene expression, autism spectrum disorder, transcriptional regulation, brain
- MeSH terms
- DNA Methyltransferase 3A, Animals, Base Sequence, Brain, Disease Models, Animal, DNA (Cytosine-5-)-Methyltransferases, Female, Gene Expression Regulation, Humans, Male, Molecular Sequence Data, Mutation, Neurons, Rett Syndrome, DNA Methylation, Mice, Methyl-CpG-Binding Protein 2
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