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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Self-citation

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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