Homo sapiens
Ontology highlight
ABSTRACT:
PROVIDER: PRJNA104059 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:gene expression profiles of lymphoblastoid cells from individuals with autism and duplication of 15q11-13 Keywords: autism with dup(15q)
2007-06-01 | GSE7315 | GEO
Project description:This SuperSeries is composed of the following subset Series:; GSE7315: autism with dup(15q); GSE7316: autism with FMR1FM; GSE7317: control males Experiment Overall Design: Refer to individual Series
2008-06-15 | E-GEOD-7329 | biostudies-arrayexpress
Project description:Angelman syndrome (AS) and interstitial duplication 15q autism (int dup(15)) are reciprocal genomic disorders caused by maternal deletion or duplication of the 15q11.2-q13 region. While AS is caused by maternal loss of 15q and maternal duplications of 15q can cause autism implicating the maternally expressed UBE3A gene in these phenotypes. We investigated chromatin and gene expression changes in blood and cell lines from three int dup(15) and three reciprocal AS deletion subjects to identify global genomic and gene expression changes that may influence both the AS and autism phenotypes. Using formaldehyde-assisted isolation of regulatory elements (FAIRE) we identified 1104 regions of differential open chromatin in AS deletion and 2344 regions int dup(15) indicating changes in chromatin could influence gene expression in these regions. Microarray analysis revealed 1225 genes that were elevated in AS deletion vs int dup(15) and 976 genes that were elevated in int dup(15) vs AS deletion PBMC (pvalue<0.05). Significant differences in expression were found for genes at the 15q locus like UBE3A, ATP10A and HERC2. A larger set of genes involved in chromatin remodeling, DNA repair and neurogenesis were found, at FAIRE peaks in AS deletion samples but had increased transcription in int dup(15) samples. There was a significant enhancement for genes with FOXP1 binding sites in the int dup(15) gene set and elevated FOXP1 protein could be detected in the nucleus of int dup(15) as compared to AS deletion cell lines. This analysis provides the first insights into transcriptional changes which may unveil new sets of genes and pathways contributing to both AS and autism pathogenesis.
2014-10-09 | GSE32563 | GEO
Project description:Angelman syndrome (AS) and interstitial duplication 15q autism (int dup(15)) are reciprocal genomic disorders caused by maternal deletion or duplication of the 15q11.2-q13 region. While AS is caused by maternal loss of 15q and maternal duplications of 15q can cause autism implicating the maternally expressed UBE3A gene in these phenotypes. We investigated chromatin and gene expression changes in blood and cell lines from three int dup(15) and three reciprocal AS deletion subjects to identify global genomic and gene expression changes that may influence both the AS and autism phenotypes. Using formaldehyde-assisted isolation of regulatory elements (FAIRE) we identified 1104 regions of differential open chromatin in AS deletion and 2344 regions int dup(15) indicating changes in chromatin could influence gene expression in these regions. Microarray analysis revealed 1225 genes that were elevated in AS deletion vs int dup(15) and 976 genes that were elevated in int dup(15) vs AS deletion PBMC (pvalue<0.05). Significant differences in expression were found for genes at the 15q locus like UBE3A, ATP10A and HERC2. A larger set of genes involved in chromatin remodeling, DNA repair and neurogenesis were found, at FAIRE peaks in AS deletion samples but had increased transcription in int dup(15) samples. There was a significant enhancement for genes with FOXP1 binding sites in the int dup(15) gene set and elevated FOXP1 protein could be detected in the nucleus of int dup(15) as compared to AS deletion cell lines. This analysis provides the first insights into transcriptional changes which may unveil new sets of genes and pathways contributing to both AS and autism pathogenesis. Gene expression was performed using 100ng of total RNA from each subject as starting material for amplification and cRNA synthesis in accordance Affymetrix protocols (http://tinyurl.com/3j7dcp6). Hybridizations were performed to the Affy HumanGene_st_v1 chip and the signal data normalized using internal chip controls. Normalized expression data was then exported to a text file for subsequent expression analysis using the EXPANDER software analysis suite.
2014-10-09 | E-GEOD-32563 | biostudies-arrayexpress
Project description:gene expression profiles of lymphoblastoid cells from individuals with autism and duplication of 15q11-13 Experiment Overall Design: Cy5; each male with autism and dup(15q) Experiment Overall Design: Cy3; pool of 14 unrelated individuals.
2008-06-15 | E-GEOD-7315 | biostudies-arrayexpress
Project description: Not available
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Project description:RNA extracted at 240min. Samples are rRNA depleted. Expression measurement of Homo sapiens genes.
2019-07-31 | GSE114179 | GEO
Project description: Not available
| S-EPMC4686780 | biostudies-literature
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| S-EPMC3743458 | biostudies-literature
Project description:Gene expression profiling of immortalized human mesenchymal stem cells with hTERT/E6/E7 transfected MSCs. hTERT may change gene expression in MSCs. Goal was to determine the gene expressions of immortalized MSCs.
2010-09-25 | GSE24338 | GEO