Ontology highlight
ABSTRACT:
PROVIDER: PRJNA1269571 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:Pig model of Angelman syndrome DNA and RNA sequencing
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Project description:Single nuclei RNA-sequencing of frontal cortex of a pig model of Angelman syndrome
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Project description:Angelman syndrome is a neurodevelopmental disorder caused by the loss of the maternal allele of the ubiquitin-protein ligase E3A (UBE3A) gene. UBE3A is imprinted with maternal-allelic expression in neurons of the central nervous syndrome (CNS) and biallelically expressed in other cell types. Consequently, in Angelman syndrome, UBE3A is absent in CNS neurons and reduced by half in other cells. It is unclear how cell type-specific gene expression in the brain is dysregulated in Angelman syndrome. Using single nuclei RNA-sequencing, we show that gene expression is dysregulated in neuronal subtypes in the frontal cortex of neonatal pigs with a UBE3A maternal deletion. A total of 3,812 unique genes were dysregulated across ten cell-type clusters, with most of the dysregulated genes (3,154 genes) in excitatory neurons.
2025-12-23 | GSE314025 | GEO
Project description:Angelman syndrome is a neurodevelopmental disorder caused by the loss of the maternal allele of the ubiquitin-protein ligase E3A (UBE3A) gene. UBE3A is imprinted with maternal-allelic expression in neurons of the central nervous syndrome (CNS) and biallelically expressed in other cell types. Consequently, in Angelman syndrome, UBE3A is absent in CNS neurons and reduced by half in other cells. Using bulk RNA-sequencing, we show that gene expression is dysregulated in the cervical spinal cord of pigs with a UBE3A maternal deletion.
2025-12-22 | GSE313825 | GEO
Project description:Angelman syndrome is a neurodevelopmental disorder caused by the loss of the maternal allele of the ubiquitin-protein ligase E3A (UBE3A) gene. UBE3A is imprinted with maternal-allelic expression in neurons of the central nervous syndrome (CNS) and biallelically expressed in other cell types. Consequently, in Angelman syndrome, UBE3A is absent in CNS neurons and reduced by half in other cells. Comparing both bulk and single nuclei RNA-sequencing, we show that gene expression is dysregulated in neuronal subtypes in the frontal cortex of pigs with a UBE3A maternal deletion.
2025-12-22 | GSE313824 | GEO
Project description:Angelman syndrome is caused by loss of funtional ubiquitin E3 ligase UBE3A and results in severe deley in cognitive and motor development. In neurons, UBE3A locates to the synapse and to the nucleus. Loss of nuclear UBE3A results in development of Angelman syndrome like symptoms in mice. UBE3A can function as transcriptional coactivator of steroid hormone receptors, but the entire function of UBE3A in the nucleus is still not clear. So we wanted to study differences in the transcriptome in neurons differentiated from iPSCs that were derived from patients with Angleman syndrome and normal controls.
2020-12-31 | GSE146640 | GEO
Project description:Channelopathy pathogenesis in a human neural cell model of Angelman Syndrome
| PRJNA492237 | ENA
Project description:mRNAseq on (1) isogenic control and Angelman Syndrome pluripotent stem cell-derived neurons or (2) antisense oligonucleotide-treated H9 hESC-derived neurons
2021-04-01 | GSE160747 | GEO
Project description:UBE3A encodes a E3 ubiquitin ligase whose loss from the maternal allele causes the neurodevelopmental disorder Angelman syndrome. Previous studies of UBE3A function have not examined full Ube3a deletion in mouse, the complexity of imprinted gene networks in brain, nor the molecular basis of systems-level cognitive dysfunctions in Angelman syndrome. We therefore utilized a systems biology approach to elucidate how UBE3A loss impacts the early postnatal brain in a novel CRISPR/Cas9 engineered rat Angelman model of a complete Ube3a deletion. Strand-specific transcriptome analysis of offspring from maternally or paternally inherited Ube3a deletions revealed the expected parental expression patterns of Ube3a sense and antisense transcripts by postnatal day 2 (P2) in hypothalamus and day 9 (P9) in cortex, compared to wild-type littermates. The dependency of genome-wide effects on parent-of-origin, Ube3a genotype, and time (P2, P9) was investigated through transcriptome (RNA-seq of cortex and hypothalamus) and methylome (whole genome bisulfite sequencing of hypothalamus). Weighted gene co-expression and co-methylation network analyses identified co-regulated networks in maternally inherited Ube3a deletion offspring enriched in postnatal developmental processes including Wnt signaling, synaptic regulation, neuronal and glial functions, epigenetic regulation, ubiquitin, circadian entrainment, and splicing. Furthermore, we showed that loss of the paternal Ube3a antisense transcript resulted in both unique and overlapping dysregulated gene pathways with maternal loss, predominantly at the level of differential methylation. Together, these results provide a holistic examination of the molecular impacts of UBE3A loss in brain, supporting the existence of interactive epigenetic networks between maternal and paternal transcripts at the Ube3a locus.
2020-03-01 | GSE137217 | GEO