ArticleJournal of medical genetics2003
Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain.
Article in Journal of medical genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
43 citing papers in PubMed, 99 citations in OpenAlex.
- Comprehensive in Silico Reclassification of MECP2 Variants of Uncertain Significance in Rett Syndrome: Performance Evaluation and Structural Analysis.Journal of molecular neuroscience : MN · 2025Article
- Exploring the complexity of MECP2 function in Rett syndrome.Nature reviews. Neuroscience · 2025Review
- MeCP2 binds to methylated DNA independently of phase separation and heterochromatin organisation.Nature communications · 2024Article
- Protein Level Quantification Across Fluorescence-based Platforms.Bio-protocol · 2023Article
- Rett Syndrome: A Tale of Altered Genetics, Synaptic Plasticity, and Neurodevelopmental Dynamics.Cureus · 2023Review
- Dose-Dependent Nuclear Delivery and Transcriptional Repression with a Cell-Penetrant MeCP2.ACS central science · 2023Article
- MeCP2-induced heterochromatin organization is driven by oligomerization-based liquid-liquid phase separation and restricted by DNA methylation.Nucleus (Austin, Tex.) · 2022Article
- Wide spectrum of neuronal and network phenotypes in human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutations.Translational psychiatry · 2022Article
- Variable predicted pathogenic mechanisms for novel MECP2 variants in RTT patients.Journal, genetic engineering & biotechnology · 2022Article
- Transcriptomic and Epigenomic Landscape in Rett Syndrome.Biomolecules · 2021Review
- Neuronal non-CG methylation is an essential target for MeCP2 function.Molecular cell · 2021Article
- Proteins in DNA methylation and their role in neural stem cell proliferation and differentiation.Cell regeneration (London, England) · 2021Review
- MeCP2: The Genetic Driver of Rett Syndrome Epigenetics.Frontiers in genetics · 2021Review
- In Vivo Repair of a Protein Underlying a Neurological Disorder by Programmable RNA Editing.Cell reports · 2020Article
- Leveraging the genetic basis of Rett syndrome to ascertain pathophysiology.Neurobiology of learning and memory · 2019Review
- Quantitative modelling predicts the impact of DNA methylation on RNA polymerase II traffic.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- A Novel Mecp2Molecular neurobiology · 2019Article
- The nuclear structural protein NuMA is a negative regulator of 53BP1 in DNA double-strand break repair.Nucleic acids research · 2019Article
- Article
- Structural Basis of MeCP2 Distribution on Non-CpG Methylated and Hydroxymethylated DNA.Journal of molecular biology · 2017Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
Abstract
Rett syndrome is a neurodevelopmental disorder with severe mental retardation caused by mutations in the MECP2 gene. Mutations in the MECP2 gene are also associated with other genetic disorders, including X linked mental retardation in males. Missense mutations identified so far are present primarily in the methyl CpG binding domain (MBD) of MECP2. Here, the functional significance of 28 MBD missense mutations identified in patients were analysed by transient expression of the mutant proteins in cultured cells. The effects of mutations were evaluated by analysis of the affinity of MeCP2 to pericentromeric heterochromatin in mouse L929 cells and on transcriptional repressive activity of MeCP2 in Drosophila SL2 cells. These analyses showed that approximately one-third (9/28) of MBD missense mutations showed strong impairment of MeCP2 function. The mutation of the R111 residue, which directly interacts with the methyl group of methyl cytosine, completely abolished MeCP2 function and mutations affecting beta-sheets and a hairpin loop have substantial functional consequences. In contrast, mutations that showed marginal or mild impairment of the function fell in unstructured regions with no DNA interaction. Since each of these mutations is known to be pathogenic, the mutations may indicate residues that are important for specific functions of MeCP2 in neurones.
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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.