ArticleNucleic acids research2000
Functional consequences of Rett syndrome mutations on human MeCP2.
Article in Nucleic acids research, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers.
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Who cites it
62 citing papers in PubMed, 154 citations in OpenAlex.
- Unveiling ocular developmental disorders through short-read whole-genome sequencing.European journal of human genetics : EJHG · 2026Article
- Translational reading frame predicts the pathogenicity of C-terminal frameshift deletions in MeCP2.eLife · 2026Article
- Early differential impact of MeCP2 mutations on functional networks in Rett syndrome patient-derived human cortical organoids.Nature communications · 2026Article
- Comprehensive in Silico Reclassification of MECP2 Variants of Uncertain Significance in Rett Syndrome: Performance Evaluation and Structural Analysis.Journal of molecular neuroscience : MN · 2025Article
- Translational reading frame determines the pathogenicity of C-terminal frameshift deletions in MeCP2: an alternative therapeutic approach.bioRxiv : the preprint server for biology · 2025Article
- Revealing function-altering MECP2 mutations in individuals with autism spectrum disorder using yeast and Drosophila.Genetics · 2025Article
- Exploring the complexity of MECP2 function in Rett syndrome.Nature reviews. Neuroscience · 2025Review
- Repetitive active and passive cognitive stimulations induce EEG changes in patients with Rett syndrome.Pediatric research · 2025Article
- Differential dynamics specify MeCP2 function at nucleosomes and methylated DNA.Nature structural & molecular biology · 2024Article
- Non-canonical C-terminal variant of MeCP2 R344W exhibits enhanced degradation rate.IBRO neuroscience reports · 2023Article
- MeCP2-induced heterochromatin organization is driven by oligomerization-based liquid-liquid phase separation and restricted by DNA methylation.Nucleus (Austin, Tex.) · 2022Article
- Analysis of X-inactivation status in a Rett syndrome natural history study cohort.Molecular genetics & genomic medicine · 2022Article
- Variable predicted pathogenic mechanisms for novel MECP2 variants in RTT patients.Journal, genetic engineering & biotechnology · 2022Article
- MeCP2: The Genetic Driver of Rett Syndrome Epigenetics.Frontiers in genetics · 2021Review
- MeCP2 and Chromatin Compartmentalization.Cells · 2020Review
- MeCP2 Represses the Rate of Transcriptional Initiation of Highly Methylated Long Genes.Molecular cell · 2020Article
- MeCP2 nuclear dynamics in live neurons results from low and high affinity chromatin interactions.eLife · 2019Article
- In Silico Study of Rett Syndrome Treatment-Related Genes,International journal of molecular sciences · 2019Article
- Methyl-CpG-binding (SmMBD2/3) and chromobox (SmCBX) proteins are required for neoblast proliferation and oviposition in the parasitic blood fluke Schistosoma mansoni.PLoS pathogens · 2018Article
- CB1R-Mediated Activation of Caspase-3 Causes Epigenetic and Neurobehavioral Abnormalities in Postnatal Ethanol-Exposed Mice.Frontiers in molecular neuroscience · 2018Article
2 more citing papers are in PubMed but not listed here.
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The neurodevelopmental disorder known as Rett syndrome has recently been linked to the methyl-CpG-binding transcriptional repressor, MeCP2. In this report we examine the consequences of these mutations on the function of MeCP2. The ability to bind specifically to methylated DNA and the transcription repression capabilities are tested, as well as the stability of proteins in vivo. We find that all missense mutations (R106W, R133C, F155S, T158M) within the methyl-binding domain impair selectivity for methylated DNA, and that all nonsense mutations (L138X, R168X, E235X, R255X, R270X, V288X, R294X) that truncate all or some of the transcriptional repression domain (TRD) affect the ability to repress transcription and have decreased levels of stability in vivo. Two missense mutations, one in the TRD (R306C) and one in the C-terminus (E397K), had no noticeable effects on MeCP2 function. Together, these results provide evidence of how Rett syndrome mutations can affect distinct functions of MeCP2 and give insight into these mutations that may contribute to the disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.