ArticleHuman genetics2005
The impact of MECP2 mutations in the expression patterns of Rett syndrome patients.
Article in Human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 72 citations in OpenAlex.
- MECP2 Dysfunction in Rett Syndrome: Molecular Mechanisms, Multisystem Pathology, and Emerging Therapeutic Strategies.International journal of molecular sciences · 2025Review
- A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration.Scientific data · 2021Article
- Rett syndrome - biological pathways leading from MECP2 to disorder phenotypes.Orphanet journal of rare diseases · 2016Review
- Gene repositioning within the cell nucleus is not random and is determined by its genomic neighborhood.Epigenetics & chromatin · 2015Article
- The methyl-CpG-binding domain (MBD) is crucial for MeCP2's dysfunction-induced defects in adult newborn neurons.Frontiers in cellular neuroscience · 2015Article
- MeCP2 reinforces STAT3 signaling and the generation of effector CD4+ T cells by promoting miR-124-mediated suppression of SOCS5.Science signaling · 2014Article
- Article
- Evaluation of current pharmacological treatment options in the management of Rett syndrome: from the present to future therapeutic alternatives.Current clinical pharmacology · 2013Review
- Validation of microarray data in human lymphoblasts shows a role of the ubiquitin-proteasome system and NF-kB in the pathogenesis of Down syndrome.BMC medical genomics · 2013Article
- Dysregulation of the long non-coding RNA transcriptome in a Rett syndrome mouse model.RNA biology · 2013Article
- Comparative DNA methylation among females with neurodevelopmental disorders and seizures identifies TAC1 as a MeCP2 target gene.Journal of neurodevelopmental disorders · 2013Article
- Genes related to mitochondrial functions, protein degradation, and chromatin folding are differentially expressed in lymphomonocytes of Rett syndrome patients.Mediators of inflammation · 2013Article
- The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1.Autism research : official journal of the International Society for Autism Research · 2012Article
- Disrupted microRNA expression caused by Mecp2 loss in a mouse model of Rett syndrome.Epigenetics · 2010Article
- Cell cloning-based transcriptome analysis in Rett patients: relevance to the pathogenesis of Rett syndrome of new human MeCP2 target genes.Journal of cellular and molecular medicine · 2010Article
- Novel variants identified in methyl-CpG-binding domain genes in autistic individuals.Neurogenetics · 2010Article
- Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain.BMC neuroscience · 2010Article
- Modulation of dendritic spine development and plasticity by BDNF and vesicular trafficking: fundamental roles in neurodevelopmental disorders associated with mental retardation and autism.Journal of neurodevelopmental disorders · 2009Article
- Bdnf overexpression in hippocampal neurons prevents dendritic atrophy caused by Rett-associated MECP2 mutations.Neurobiology of disease · 2009Article
- MECP2 genomic structure and function: insights from ENCODE.Nucleic acids research · 2008Review
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rett syndrome (RTT), the second most common cause of mental retardation in females, has been associated with mutations in MeCP2, the archetypical member of the methyl-CpG binding domain (MBD) family of proteins. MeCP2 additionally possesses a transcriptional repression domain (TRD). We have compared the gene expression profiles of RTT- and normal female-derived lymphoblastoid cells by using cDNA microarrays. Clustering analysis allowed the classification of RTT patients according to the localization of the MeCP2 mutation (MBD or TRD) and those with clinically diagnosed RTT but without detectable MeCP2 mutations. Numerous genes were observed to be overexpressed in RTT patients compared with control samples, including excellent candidate genes for neurodevelopmental disease. Chromatin immunoprecipitation analysis confirmed that binding of MeCP2 to corresponding promoter CpG islands was lost in RTT-derived cells harboring a mutation in the region of the MECP2 gene encoding the MBD. Bisulfite genomic sequencing demonstrated that the majority of MeCP2 binding occurred in DNA sequences with methylation-associated silencing. Most importantly, the finding that these genes are also methylated and bound by MeCP2 in neuron-related cells suggests a role in this neurodevelopmental disease. Our results provide new data of the underlying mechanisms of RTT and unveil novel targets of MeCP2-mediated gene repression.
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