Disruption of DNA-methylation-dependent long gene repression in Rett syndrome
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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 report that MECP2 binds both 5mCA and 5mCG sites with high affinity.
“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 neurons, intragenic 5mCH quantitatively modulates gene expression by interacting with MECP2 and recruiting the NCoR corepressor complex to chromatin.
“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]
MECP2- and 5mCA-dependent repression is particularly critical for long genes longer than 100 kb, many of which have neuronal functions.
“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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- 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 · 2014: 1
- 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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