ArticleAutism research : official journal of the International Society for Autism Research2008
MECP2 promoter methylation and X chromosome inactivation in autism.
Article in Autism research : official journal of the International Society for Autism Research, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 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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Who cites it
59 citing papers in PubMed, 109 citations in OpenAlex.
- Female cortical cellular mosaicism underlies shared MeCP2 and PCB impacted gene pathways.iScience · 2026Article
- Autism Spectrum Disorder Pathogenesis-A Cross-Sectional Literature Review Emphasizing Molecular Aspects.International journal of molecular sciences · 2024Review
- POMC-specific knockdown of MeCP2 leads to adverse phenotypes in mice chronically exposed to high fat diet.Behavioural brain research · 2024Article
- Traversing the epigenetic landscape: DNA methylation from retina to brain in development and disease.Frontiers in cellular neuroscience · 2024Review
- Epigenomic signatures reveal mechanistic clues and predictive markers for autism spectrum disorder.Molecular psychiatry · 2023Review
- Article
- The Cell Adhesion Molecule L1 Interacts with Methyl CpG Binding Protein 2 via Its Intracellular Domain.International journal of molecular sciences · 2022Article
- X Chromosome Inactivation Timing is Not eFrontiers in genetics · 2022Article
- Review
- Thyroid hormone insufficiency alters the expression of psychiatric disorder-related molecules in the hypothyroid mouse brain during the early postnatal period.Scientific reports · 2021Article
- Cord blood DNA methylome in newborns later diagnosed with autism spectrum disorder reflects early dysregulation of neurodevelopmental and X-linked genes.Genome medicine · 2020Article
- Epigenomic Convergence of Neural-Immune Risk Factors in Neurodevelopmental Disorder Cortex.Cerebral cortex (New York, N.Y. : 1991) · 2020Article
- Regulation of neural differentiation, synaptic scaling and animal behavior by MeCP2 phophorylation.Neurobiology of learning and memory · 2019Article
- DNA Methylation Contributes to the Differential Expression Levels ofInternational journal of molecular sciences · 2019Article
- DNA Methylation and Susceptibility to Autism Spectrum Disorder.Annual review of medicine · 2019Review
- Genetic Causes and Modifiers of Autism Spectrum Disorder.Frontiers in cellular neuroscience · 2019Review
- Epigenetics and cerebral organoids: promising directions in autism spectrum disorders.Translational psychiatry · 2018Review
- NS-Brain and behavior · 2017Article
- Breathing abnormalities in animal models of Rett syndrome a female neurogenetic disorder.Respiratory physiology & neurobiology · 2017Review
- CXBrain, behavior, and immunity · 2017Article
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
Abstract
Epigenetic mechanisms have been proposed to play a role in the etiology of autism. This hypothesis is supported by the discovery of increased MECP2 promoter methylation associated with decreased MeCP2 protein expression in autism male brain. To further understand the influence of female X chromosome inactivation (XCI) and neighboring methylation patterns on aberrant MECP2 promoter methylation in autism, multiple methylation analyses were peformed on brain and blood samples from individuals with autism. Bisulfite sequencing analyses of a region 0.6 kb upstream of MECP2 in brain DNA samples revealed an abrupt transition from a highly methylated region in both sexes to a region unmethylated in males and subject to XCI in females. Chromatin immunoprecipitation analysis demonstrated that the CCTC-binding factor (CTCF) bound to this transition region in neuronal cells, consistent with a chromatin boundary at the methylation transition. Male autism brain DNA samples displayed a slight increase in methylation in this transition region, suggesting a possible aberrant spreading of methylation into the MECP2 promoter in autism males across this boundary element. In addition, autistic female brain DNA samples showed evidence for aberrant MECP2 promoter methylation as an increase in the number of bisulfite sequenced clones with undefined XCI status for MECP2 but not androgen receptor (AR). To further investigate the specificity of MECP2 methylation alterations in autism, blood DNA samples from females and mothers of males with autism were also examined for XCI skewing at AR, but no significant increase in XCI skewing was observed compared to controls. These results suggest that the aberrant MECP2 methylation in autism brain DNA samples is due to locus-specific rather than global X chromosome methylation changes.
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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.