Ontology highlight
ABSTRACT:
PROVIDER: PRJNA168210 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:Brain transcriptional and epigenetic associations with the autistic phenotype (methylation data)
| PRJNA168227 | ENA
Project description:Brain transcriptional and epigenetic associations with the autistic phenotype (expression data)
| PRJNA167675 | ENA
Project description:Autism is a common neurodevelopmental syndrome. Numerous rare genetic etiologies are reported; most cases are idiopathic. To uncover important gene dysregulation in autism we analyzed carefully selected idiopathic autistic and control cerebellar and BA19 (occipital) brain tissues using high resolution whole genome gene expression and DNA methylation microarrays. No changes in DNA methylation were identified in autistic brain but gene expression abnormalities in two areas of metabolism were apparent: down-regulation of genes of mitochondrial oxidative phosphorylation and of protein translation. We also found associations between specific behavioral domains of autism and specific brain gene expression modules related to myelin/myelination, inflammation/immune response and purinergic signaling. This work highlights two largely unrecognized molecular pathophysiological themes in autism and suggests differing molecular bases for autism behavioral endophenotypes.
2012-08-15 | GSE38322 | GEO
Project description:Autism is a common neurodevelopmental syndrome. Numerous rare genetic etiologies are reported; most cases are idiopathic. To uncover important gene dysregulation in autism, we analyzed carefully selected idiopathic autistic and control cerebellar and BA19 (occipital) brain tissues using high-resolution whole genome gene expression and DNA methylation microarrays. No changes in DNA methylation were identified in autistic brain but gene expression abnormalities in two areas of metabolism were apparent: down-regulation of genes of mitochondrial oxidative phosphorylation and of protein translation. We also found associations between specific behavioral domains of autism and specific brain gene expression modules related to myelin/myelination, inflammation/immune response and purinergic signaling. This work highlights two largely unrecognized molecular pathophysiological themes in autism and suggests differing molecular bases for autism behavioral endophenotypes.
2012-08-15 | GSE38608 | GEO
Project description:Autism is a common neurodevelopmental syndrome. Numerous rare genetic etiologies are reported; most cases are idiopathic. To uncover important gene dysregulation in autism, we analyzed carefully selected idiopathic autistic and control cerebellar and BA19 (occipital) brain tissues using high-resolution whole genome gene expression and DNA methylation microarrays. No changes in DNA methylation were identified in autistic brain but gene expression abnormalities in two areas of metabolism were apparent: down-regulation of genes of mitochondrial oxidative phosphorylation and of protein translation. We also found associations between specific behavioral domains of autism and specific brain gene expression modules related to myelin/myelination, inflammation/immune response and purinergic signaling. This work highlights two largely unrecognized molecular pathophysiological themes in autism and suggests differing molecular bases for autism behavioral endophenotypes. In this set of DNA methylation data, 9 cerebellar autism, 9 cerebellar control, 8 BA19 (occipital cortex) autism, and 8 BA19 control samples were used. Samples are labeled with a B followed by a unique number and letter identifying the subject and brain region, followed by an optional hyphenated number indicating the technical replicates performed on sample 1.
2012-08-14 | E-GEOD-38608 | biostudies-arrayexpress
Project description:Autism is currently considered a multigene disorder with epigenetic influences. To investigate the contribution of DNA methylation to autism spectrum disorders, we have recently completed large-scale methylation profiling by CpG island microarray analysis of lymphoblastoid cell lines (LCL) derived from monozygotic twins discordant for diagnosis of autism and their nonautistic siblings. Methylation profiling revealed many candidate genes differentially methylated between discordant MZ twins as well as between both twins and nonautistic siblings. Bioinformatics analysis of the differentially methylated genes demonstrated enrichment for high level functions including gene transcription, nervous system development, cell death/survival, and other biological processes implicated in autism. The methylation status of two of these candidate genes, BCL-2 and retinoic acid receptor (RAR)-related orphan receptor alpha (RORA), was further confirmed by bisulfite sequencing and methylation-specific PCR, respectively. Immunohistochemical analyses of tissue arrays containing slices of the cerebellum and frontal cortex of autistic and age- and sex-matched control subjects revealed decreased expression of RORA and BCL-2 proteins in the autistic brain. Our data thus confirm the role of epigenetic regulation of gene expression via differential DNA methylation in idiopathic autism, and furthermore link molecular changes in a peripheral cell model with brain pathobiology in autism. Global methylation profiling was performed on lymphoblastoid cell lines (LCLs) derived from three pairs of male monozygotic twins discordant for diagnosis of autism as determined by the Autism Diagnostic Interview-Revised (ADI-R). As controls, cell lines derived from non-autistic siblings of two pairs of twins were also included in the analyses, in addition to cell lines derived from a set of monozygotic twins unaffected by autism. For all paired analyses, a direct comparison was performed in which the methylation-enriched fractions from two individuals were pooled and hybridized onto the same microarray. In addition, indirect comparisons were performed by co-hybridizing the methylation-enriched (MIRA) fraction with the respective unenriched DNA fraction obtained from the same individual. For each paired analysis (between autistic MZ twins and/or between autistic co-twin and unaffected sibling), a total number of 4 replicates were performed, including direct and indirect comparisons.
2010-04-27 | E-GEOD-21395 | biostudies-arrayexpress
Project description:We examined whether peripheral blood gene expression differs in essential tremor (ET) and relates to clinical or neuroanatomical variation. Blood RNA-seq was analysed in 38 individuals with ET and 37 controls. Differential expression, phenotype associations, co-expression networks, and cross-tissue concordance with ET cerebellar RNA-seq were assessed. Four genes were significantly upregulated in ET: CXCL5, HSPB1, CLEC7A, and PRDX6. Diagnostic effects were otherwise limited, but within ET, gene expression showed stronger associations with cognition and regional brain structure, including immune, mitochondrial, and erythroid/vascular transcriptional modules. Blood RNA-seq shows modest diagnostic differences in ET but more substantial transcriptional associations with phenotypic heterogeneity.
2026-09-16 | GSE344274 | GEO
Project description:Whole blood was collected from healthy and autistic infants and peripheral blood mononuclear cells (PBMC) were isolated. Transcriptional profile in PBMCs was compared between healthy and autistic infants. Comparison: healty control infants vs autistic infants. Biological replicates; 4 control infants and 4 autistic infants.
2016-08-01 | E-GEOD-77103 | biostudies-arrayexpress
Project description:This logical network model integrate signalling, transcriptional and epigenetic regulatory mechanisms underlying the the Acute Promyelocytic Leukaemia cell responses to RA treatment depending on their genetic background. The explicit inclusion of the histone methyltransferase EZH2 allowed us to assess its role in the maintenance of the resistant phenotype, distinguishing between its canonical and non-canonical activities. Ultimately, this model offers a solid basis to assess the roles of novel regulatory mechanisms, as well as to explore novel therapeutical approaches in silico.
2025-02-03 | MODEL2403140001 | BioModels
Project description:We report scM&T-seq, a method for parallel single-cell genome-wide methylome and transcriptome sequencing, allowing discovery of associations between transcriptional and epigenetic variation. Profiling of 61 mouse embryonic stem cells confirmed known links between DNA methylation and transcription. Notably, the method reveals novel associations between heterogeneous methylation of distal regulatory elements and transcriptional heterogeneity of key pluripotency genes. E14 ES cells were grown in either serum/LIF or 2i culture conditions and separated into single cells. RNA-Seq or Bisulfite-Seq libraries were prepared. This Series includes only the Bisulfite-Seq data. The list of 61 samples that passed QC in both BS-seq and RNA-seq is included in "Supplementary Table 1" of the associated manuscript.
2015-12-24 | E-GEOD-68642 | biostudies-arrayexpress