Cited by 577Genetics and Neurodevelopmental DisordersEpigenetics and DNA MethylationGenomics and Chromatin Dynamics

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Disruption of DNA-methylation-dependent long gene repression in Rett syndrome

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Gabel, Harrison W., Kinde, Benyam, Stroud, Hume, Gilbert, Caitlin S., Harmin, David A., Kastan, Nathaniel R., Hemberg, Martin, Ebert, Daniel H., Greenberg, Michael E.·2015·Nature

DOI 10.1038/nature14319PMC PMC4480648

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Abstract

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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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
Differential gene and transcript expression analysis of RNA-seq experiments with TopHat and Cufflinks
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
Variations of Box Plots
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-citation
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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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Salinas, R. D., Connolly, D. R., & Song, H. (2020) · Neuropathology and Applied Neurobiology · doi:10.1111/nan.12608 · Cited by 90
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Sun, Z., Kwon, J.-S., Ren, Y., Chen, S., Walker, C. K., Lu, X., Cates, K., Karahan, H., Sviben, S., Fitzpatrick, J. A. J., et al. (2024) · Science · doi:10.1126/science.adl2992 · Cited by 77
“RNA-seq of reprogramming cells at different post-induction days (PID) showed a continuous increase in the expression of long genes, a transcriptomic feature unique to neurons (29, 34) (Fig.”
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Luo, C., Lee, Q. Y., Wapinski, O., Castanon, R., Nery, J. R., Mall, M., Kareta, M. S., Cullen, S. M., Goodell, M. A., Chang, H. Y., et al. (2019) · eLife · doi:10.7554/elife.40197 · Cited by 76
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Venters, C. C., Oh, J., Di, C., So, B. R., & Dreyfuss, G. (2019) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a032235 · Cited by 75
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Lamonica, J. M., Kwon, D. Y., Goffin, D., Fenik, P., Johnson, B. S., Cui, Y., Guo, H., Veasey, S. C., & Zhou, Z. (2017) · Journal of Clinical Investigation · doi:10.1172/jci90967 · Cited by 71
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Jin, J., Lian, T., Gu, C., Yu, K., Gao, Y. Q., & Su, X. (2016) · Scientific Reports · doi:10.1038/srep29119 · Cited by 55
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Keown, C. L., Berletch, J. B., Castanon, R., Nery, J. R., Distèche, C. M., Ecker, J. R., & Mukamel, E. A. (2017) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1611905114 · Cited by 47
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Sperlazza, M. J., Bilinovich, S. M., Sinanan, L. M., Javier, F. R., & Williams, D. C. (2017) · Journal of Molecular Biology · doi:10.1016/j.jmb.2017.04.009 · Cited by 49
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Ausió, J. (2016) · Clinical Epigenetics · doi:10.1186/s13148-016-0214-5 · Cited by 49
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Osenberg, S., Karten, A., Sun, J., Li, J., Charkowick, S. V., Felice, C. A., Kritzer, M. F., Nguyen, M. V. C., Yu, P., & Ballas, N. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1722546115 · Cited by 46
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Nishioka, M., Bundo, M., Iwamoto, K., & Kato, T. (2018) · Molecular Psychiatry · doi:10.1038/s41380-018-0129-y · Cited by 47
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Li, L., Chen, R., Zhang, H., Li, J., Huang, H., Weng, J., Tan, H., Guo, T., Wang, M., & Xie, J. (2024) · Frontiers in Immunology · doi:10.3389/fimmu.2024.1401962 · Cited by 54
MiR-124 synergism with ELAVL3 enhances target gene expression to promote neuronal maturity
Lu, Y.-L., Liu, Y., McCoy, M. J., & Yoo, A. S. J. (2021) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2015454118 · Cited by 52
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Papin, C., Ibrahim, A., Gras, S. L., Velt, A., Stoll, I., Jost, B., Menoni, H., Bronner, C., Dimitrov, S. I., & Hamiche, A. (2017) · Genome Research · doi:10.1101/gr.213983.116 · Cited by 49
Accelerated Hyper-Maturation of Parvalbumin Circuits in the Absence of MeCP2
Patrizi, A., Awad, P. N., Chattopadhyaya, B., Li, C., Di Cristo, G., & Fagiolini, M. (2020) · Cerebral Cortex · doi:10.1093/cercor/bhz085 · Cited by 46
Non-cell Autonomous OTX2 Homeoprotein Regulates Visual Cortex Plasticity Through Gadd45b/g
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Differential expression of m5C RNA methyltransferase genes NSUN6 and NSUN7 in Alzheimer’s disease and traumatic brain injury
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Topoisomerase 1B poisons: Over a half‐century of drug leads, clinical candidates, and serendipitous discoveries
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NSD1 deposits histone H3 lysine 36 dimethylation to pattern non-CG DNA methylation in neurons
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Self-citation
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Gross, J. A., Pacis, A., Chen, G. G., Barreiro, L. B., Ernst, C., & Turecki, G. (2015) · BMC Genomics · doi:10.1186/s12864-015-1875-8 · Cited by 46
The whale shark genome reveals how genomic and physiological properties scale with body size
Weber, J. A., Park, S. G., Luria, V. A., Jeon, S., Kim, H., Jeon, Y., Bhak, Y., Jun, J. H., Kim, S. W., Hong, W. H., et al. (2020) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1922576117 · Cited by 44
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Sharifi, O., & Yasui, D. H. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.624290 · Cited by 49
Negative Allosteric Modulation of mGluR5 Partially Corrects Pathophysiology in a Mouse Model of Rett Syndrome
Tao, J., Wu, H., Coronado, A. A., de Laittre, E. A., Osterweil, E. K., Zhang, Y., & Bear, M. F. (2016) · Journal of Neuroscience · doi:10.1523/jneurosci.0672-16.2016 · Cited by 46
State‐of‐the‐art therapies for Rett syndrome
Panayotis, N., Ehinger, Y., Félix, M., & Roux, J. (2022) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.15383 · Cited by 46
Apparent bias toward long gene misregulation in MeCP2 syndromes disappears after controlling for baseline variations
Raman, A. T., Pohodich, A. E., Wan, Y., Yalamanchili, H. K., Lowry, W. E., Zoghbi, H. Y., & Liu, Z. (2018) · Nature Communications · doi:10.1038/s41467-018-05627-1 · Cited by 42
MeCP2 nuclear dynamics in live neurons results from low and high affinity chromatin interactions
Piccolo, F. M., Liu, Z. J., Dong, P., Hsu, C.-L., Stoyanova, E. I., Rao, A., Tjian, R., & Heintz, N. (2019) · eLife · doi:10.2139/ssrn.3376659 · Cited by 38
Minimal requirements for a neuron to coregulate many properties and the implications for ion channel correlations and robustness
Yang, J., Shakil, H., Ratté, S., & Prescott, S. A. (2022) · eLife · doi:10.7554/elife.72875 · Cited by 41
Single-cell Micro-C profiles 3D genome structures at high resolution and characterizes multi-enhancer hubs
Wu, H., Zhang, J., Tan, L., & Xie, X. S. (2025) · Nature Genetics · doi:10.1038/s41588-025-02247-6 · Cited by 44
Transcriptome analysis of human brain tissue identifies reduced expression of complement complex C1Q Genes in Rett syndrome
Lin, P., Nicholls, L. E., Assareh, H., Fang, Z., Amos, T. G., Edwards, R. J., Assareh, A. A., & Voineagu, I. (2016) · BMC Genomics · doi:10.1186/s12864-016-2746-7 · Cited by 41
MECP2 and the biology of MECP2 duplication syndrome
D’Mello, S. R. (2021) · Journal of Neurochemistry · doi:10.1111/jnc.15331 · Cited by 42

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: Gabel, Harrison W.
Kinde, Benyam
Stroud, Hume
Kastan, Nathaniel R.
Hemberg, Martin
Greenberg, Michael E.
Venue: Nature
Publisher: Springer Science and Business Media LLC
Published: 2015-03-11
Volume: 522
Issue: 7554
Pages: 89-93
ISSN: 0028-0836 (ISSN-L)
1476-4687
DOI: 10.1038/nature14319
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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Disruption of DNA-methylation-dependent long gene repression in Rett syndrome

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