ArticleHuman molecular genetics2018
A mutation-led search for novel functional domains in MeCP2.
Article in Human molecular genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 39 citations in OpenAlex.
- Methyl-CpG-binding protein 2 gene mutations and its association with epilepsy: a single centre study from the Indian subcontinent.Journal of genetics · 2020Trial
- The clinical spectrum of MECP2 variants in males: a multicenter Turkish cohort of 22 probands, with implications for diagnosis and variant interpretation.BMC pediatrics · 2026Article
- Translational reading frame predicts the pathogenicity of C-terminal frameshift deletions in MeCP2.eLife · 2026Article
- Dysfunction of a SET3-like complex underlies a family of related neurological disorders.Nature communications · 2026Article
- MeCP2 requires interactions with nucleosome linker DNA to read chromatin DNA methylation.Nature communications · 2026Article
- MeCP2 NID interaction with RNA: implications for Rett syndrome-relevant protein regulation.Human molecular genetics · 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
- MECP2 Dysfunction in Rett Syndrome: Molecular Mechanisms, Multisystem Pathology, and Emerging Therapeutic Strategies.International journal of molecular sciences · 2025Review
- Preclinical Milestones in MECP2 Gene Transfer for Treating Rett Syndrome.Developmental neuroscience · 2025Review
- Differential dynamics specify MeCP2 function at nucleosomes and methylated DNA.Nature structural & molecular biology · 2024Article
- Engineering Toxoplasma gondii secretion systems for intracellular delivery of multiple large therapeutic proteins to neurons.Nature microbiology · 2024Article
- MeCP2 binds to methylated DNA independently of phase separation and heterochromatin organisation.Nature communications · 2024Article
- Overcoming genetic and cellular complexity to study the pathophysiology of X-linked intellectual disabilities.Journal of neurodevelopmental disorders · 2024Review
- Non-canonical C-terminal variant of MeCP2 R344W exhibits enhanced degradation rate.IBRO neuroscience reports · 2023Article
- Activity-induced MeCP2 phosphorylation regulates retinogeniculate synapse refinement.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Variable predicted pathogenic mechanisms for novel MECP2 variants in RTT patients.Journal, genetic engineering & biotechnology · 2022Article
- Rett Syndrome andNeuropsychiatric disease and treatment · 2022Review
- Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders.American journal of human genetics · 2021Article
- Neuronal non-CG methylation is an essential target for MeCP2 function.Molecular cell · 2021Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
Most missense mutations causing Rett syndrome (RTT) affect domains of MeCP2 that have been shown to either bind methylated DNA or interact with a transcriptional co-repressor complex. Several mutations, however, including the C-terminal truncations that account for ∼10% of cases, fall outside these characterized domains. We studied the molecular consequences of four of these 'non-canonical' mutations in cultured neurons and mice to see if they reveal additional essential domains without affecting known properties of MeCP2. The results show that the mutations partially or strongly deplete the protein and also in some cases interfere with co-repressor recruitment. These mutations therefore impact the activity of known functional domains and do not invoke new molecular causes of RTT. The finding that a stable C-terminal truncation does not compromise MeCP2 function raises the possibility that small molecules which stabilize these mutant proteins may be of therapeutic value.
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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.