RNA-Seq of B6/CAST crosses in major forebrain cell types (bulk)
Ontology highlight
ABSTRACT:
ORGANISM(S): Mus musculus
PROVIDER: GSE154437 | GEO | 2020/07/16
REPOSITORIES: GEO
Similar Datasets
Project description:In mammalian genomes a subset of genes is regulated by genomic imprinting resulting in silencing of one parental allele. Imprinting is essential for cerebral cortex development but prevalence and functional impact in individual cells is unclear. Here we determined allelic expression in cortical cell types and established a quantitative platform to interrogate imprinting in single cells. We created cells with uniparental disomy (UPD) containing either two copies of the maternal or paternal chromosome hence imprinted genes will be twofold overexpressed or not expressed. By genetic labeling of UPD we determined cellular phenotypes and transcriptional responses to deregulated imprinted gene expression at unprecedented single cell resolution. We discovered an unexpected degree of cell type specificity and a novel function of imprinting in the regulation of cortical astrocyte survival. More generally our results suggest functional relevance of imprinted gene expression in glial astrocyte lineage and thus for generating cortical cell type diversity.
2020-07-16 | GSE153356 | GEO
Project description:In mammalian genomes a subset of genes is regulated by genomic imprinting resulting in silencing of one parental allele. Imprinting is essential for cerebral cortex development but prevalence and functional impact in individual cells is unclear. Here we determined allelic expression in cortical cell types and established a quantitative platform to interrogate imprinting in single cells. We created cells with uniparental disomy (UPD) containing either two copies of the maternal or paternal chromosome hence imprinted genes will be twofold overexpressed or not expressed. By genetic labeling of UPD we determined cellular phenotypes and transcriptional responses to deregulated imprinted gene expression at unprecedented single cell resolution. We discovered an unexpected degree of cell type specificity and a novel function of imprinting in the regulation of cortical astrocyte survival. More generally our results suggest functional relevance of imprinted gene expression in glial astrocyte lineage and thus for generating cortical cell type diversity.
2020-07-16 | GSE154468 | GEO
Project description:In mammalian genomes a subset of genes is regulated by genomic imprinting resulting in silencing of one parental allele. Imprinting is essential for cerebral cortex development but prevalence and functional impact in individual cells is unclear. Here we determined allelic expression in cortical cell types and established a quantitative platform to interrogate imprinting in single cells. We created cells with uniparental disomy (UPD) containing either two copies of the maternal or paternal chromosome hence imprinted genes will be twofold overexpressed or not expressed. By genetic labeling of UPD we determined cellular phenotypes and transcriptional responses to deregulated imprinted gene expression at unprecedented single cell resolution. We discovered an unexpected degree of cell type specificity and a novel function of imprinting in the regulation of cortical astrocyte survival. More generally our results suggest functional relevance of imprinted gene expression in glial astrocyte lineage and thus for generating cortical cell type diversity.
2020-07-16 | GSE153878 | GEO
Project description:In mammalian genomes a subset of genes is regulated by genomic imprinting resulting in silencing of one parental allele. Imprinting is essential for cerebral cortex development but prevalence and functional impact in individual cells is unclear. Here we determined allelic expression in cortical cell types and established a quantitative platform to interrogate imprinting in single cells. We created cells with uniparental disomy (UPD) containing either two copies of the maternal or paternal chromosome hence imprinted genes will be twofold overexpressed or not expressed. By genetic labeling of UPD we determined cellular phenotypes and transcriptional responses to deregulated imprinted gene expression at unprecedented single cell resolution. We discovered an unexpected degree of cell type specificity and a novel function of imprinting in the regulation of cortical astrocyte survival. More generally our results suggest functional relevance of imprinted gene expression in glial astrocyte lineage and thus for generating cortical cell type diversity.
2020-07-16 | GSE153362 | GEO
Project description:In mammalian genomes a subset of genes is regulated by genomic imprinting resulting in silencing of one parental allele. Imprinting is essential for cerebral cortex development but prevalence and functional impact in individual cells is unclear. Here we determined allelic expression in cortical cell types and established a quantitative platform to interrogate imprinting in single cells. We created cells with uniparental disomy (UPD) containing either two copies of the maternal or paternal chromosome hence imprinted genes will be twofold overexpressed or not expressed. By genetic labeling of UPD we determined cellular phenotypes and transcriptional responses to deregulated imprinted gene expression at unprecedented single cell resolution. We discovered an unexpected degree of cell type specificity and a novel function of imprinting in the regulation of cortical astrocyte survival. More generally our results suggest functional relevance of imprinted gene expression in glial astrocyte lineage and thus for generating cortical cell type diversity.
2020-07-16 | GSE154442 | GEO
Project description:Uniparental disomy (UPD) refers to as both homologous chromosomes inherited from only one parent without identical copies from the other parent. Current knowledge of the phenotypes is associated with imprinting disorders or autosomal recessive mutations. Recent studies had reported that UPD for chromosomes 6, 7, 11, 14, 15, and 20 accompanied with definite imprinted disorders. However, the phenotypes and outcomes of UPD with other chromosomes have not been completely identified. Herein, we combined three remarkable UPD patients involving different chromosomes and presented their phenotypes. The chromosomal microarray (CMA) demonstrated a whole homozygous region on chromosome 2 in patient A, on chromosome 9 in patient B, accompanied by a gain mosaic region (ratio:22%) of 19.18Mb in 9p22.2p13.2, and a LOH region on 14q23.2q32.12 and several genes with compound heterozygous mutation were detected in patient C
2024-06-30 | GSE235878 | GEO
Project description:Genomic imprinting is a mechanism in which the expression of genes varies depending on their parent-of-origin. Imprinting occurs through differential DNA methylation and histone modifications on the two parental alleles, with most imprinted genes marked by CpG-rich differentially methylated regions (DMRs). DNA methylation profiling in cases of uniparental disomy (UPD) provides a unique system permitting the study of DNA derived from a single parent (PMID: 20631049). Approximately 70 human imprinted genes have been described, and imprinted loci have been associated with diseases such as diabetes and cancer. We profiled parent of origin DNA methylation marks to find novel imprinted loci. Methods: We have an unprecedented collection of whole blood DNA from XX patients with UPD covering 18 different chromosomes, allowing for the efficient detection of DMRs associated with imprinted genes for 84% of the human genome. Our study is complimented with Ovarian Teratoma DNA (maternal DNA) and Complete hydatidiform Mole (paternal DNA). DNA methylation was profiled using Illumina Infinium 450K Methylation BeadArrays. Imprinted DMRs were defined by sites at which the maternal and paternal methylation levels diverged significantly from the biparental average. We confirmed novel DMRs by bisulfite sequencing of informative trios and SequenomEpiTYPER assays. Allelic specific gene expression studies were also performed by RNA sequencing in independent biparental controls. Findings: Our results provide for the first comprehensive map of the human imprintome, doubling the number of known imprinted regions. We identified a total of 71 DMRs, 41 of which were novel. 27 novel DMRs were maternally methylated and 14 were paternally methylated. We identified DMRs on chromosomes 5, 21 and 22 previously considered devoid of imprinting, highlighting potential parent-of-origin effects in chromosomal aneuploidies such as Down syndrome. We also found DMRs in genes associated with Schizophrenia and epilepsy. Interpretation: Our data provide the first comprehensive genome-wide map of imprinted sites in the human genome, and provide novel insights into potential parent-of-origin effects in human disorders. 66 UPD samples analyzed in total, From each individual, whole bllod DNA was extracted and global DNA methylation levels were assessed using Illumina Infinium HumanMethylation450 BeadChip.
2016-06-01 | E-GEOD-64244 | biostudies-arrayexpress
Project description:Utilizing reciprocal genome-wide uniparental disomy samples presenting with Beckwith-Wiedemann and Silver-Russell syndrome-like phenotypes, we have analyzed ~0.1% of CpG dinucleotides present in the human genome for imprinted differentially methylated regions (DMRs) using the Illumina Infinium HumanMethylation27 BeadChip microarray. This approach identified 15 imprinted DMRs associated with previously characterized imprinted domains, and confirmed the maternal methylation of the RB1 DMR. In addition, we discovered two novel DMRs: a maternally methylated region overlapping the FAM50B promoter CpG island, which results in paternal expression of this retrotransposon, and a paternally methylated region located between maternally expressed ZNF597 and NAT15 genes. We analyzed reciprocal genome-wide uniparental disomy samples (one maternal UPD and three paternal UPD samples) and six different normal somatic tissues derived from the three germinal layers (lymphocytes, buccal cells, placenta, brain, muscle, and fat) .
2011-05-26 | E-GEOD-28525 | biostudies-arrayexpress
Project description:Many questions about the regulation, functional specialization, computational prediction, and evolution of genomic imprinting would be better addressed by having an exhaustive genome-wide catalog of genes that display parent-of-origin differential expression. As a first-pass scan for novel imprinted genes, we performed mRNA-seq experiments on E17.5 mouse placenta cDNA samples from reciprocal cross F1 progeny of AKR and PWD mouse strains, and quantified the allele-specific expression and the degree of parent-of-origin effect transcriptome-wide. We confirmed the imprinting status of 23 known imprinted genes in the placenta, and found that 12 genes reported previously to be imprinted in other tissues are also imprinted in mouse placenta. Through a well-replicated design using an orthogonal technology, we verified five novel imprinted genes that are not known to be imprinted in mouse. It appears that most of the strongly imprinted genes have already been identified, at least in the placenta, and that evidence supports perhaps 100 additional weakly imprinted genes. Despite previous appearance that the placenta tends to display an excess of maternally-expressed imprinted genes, when the full set of genes is uniformly scored as in this study, this maternal bias disappeared.
2011-06-15 | GSE29690 | GEO
Project description:Many questions about the regulation, functional specialization, computational prediction, and evolution of genomic imprinting would be better addressed by having an exhaustive genome-wide catalog of genes that display parent-of-origin differential expression. As a first-pass scan for novel imprinted genes, we performed mRNA-seq experiments on E17.5 mouse placenta cDNA samples from reciprocal cross F1 progeny of AKR and PWD mouse strains, and quantified the allele-specific expression and the degree of parent-of-origin effect transcriptome-wide. We confirmed the imprinting status of 23 known imprinted genes in the placenta, and found that 12 genes reported previously to be imprinted in other tissues are also imprinted in mouse placenta. Through a well-replicated design using an orthogonal technology, we verified five novel imprinted genes that are not known to be imprinted in mouse. It appears that most of the strongly imprinted genes have already been identified, at least in the placenta, and that evidence supports perhaps 100 additional weakly imprinted genes. Despite previous appearance that the placenta tends to display an excess of maternally-expressed imprinted genes, when the full set of genes is uniformly scored as in this study, this maternal bias disappeared. Examine allelic expression in E17.5 placenta tissues from two individual samples, one from each of the two reciprocal crosses.
2011-06-15 | E-GEOD-29690 | biostudies-arrayexpress