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Dissecting developmental disorders caused by CTCF mutation at R567 [snRNA-seq]

ABSTRACT: In this study, we performed single nucleus RNA sequencing in heart, lung and cortex tissues from E18.5 mouse embryo.

ORGANISM(S): Mus musculus

PROVIDER: GSE214690 | GEO | 2024/05/06

REPOSITORIES: GEO

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Similar Datasets

Dissecting developmental disorders caused by CTCF mutation at R567 [SPARC-seq]

Project description:In this study, we performed SPARC-seq experiments in brain tissue from E18.5 mouse embryo.

2024-05-06 | GSE214691 | GEO

Dissecting developmental disorders caused by CTCF mutation at R567

Project description:This SuperSeries is composed of the SubSeries listed below.

2024-05-05 | GSE214692 | GEO

Dissecting developmental disorders caused by CTCF mutation at R567 [4C]

Project description:In this study, we performed 4C sequencing experiments to investigate the change of chromatin interactions between the promoters of Pcdh genes and enhancers across cPcdh locus.

2024-05-06 | GSE214688 | GEO

Dissecting developmental disorders caused by CTCF mutation at R567 [Hi-C]

Project description:In this study, we performed BL-Hi-C experiments to investigate the influence of CTCF mutation on higher-order chromatin structures.

2024-05-06 | GSE214687 | GEO

Dissecting developmental disorders caused by CTCF mutation at R567 [RNA-seq]

Project description:In this study, we analyzed gene expression change in brain tissues, in vitro cultured neurons and cortical organoids by using RNA-seq.

2024-05-06 | GSE214689 | GEO

Dissecting developmental disorders caused by CTCF mutation at R567 [ChIP-seq]

Project description:In this study, CTCF ChIP experiments were performed to investigate the influence of CTCF mutation on its binding in mouse tissues.

2024-05-06 | GSE214686 | GEO

CTCF mutation at R567 causes developmental disorders by 3D genome rearrangement, premature exhaustion of stem cells and abnormal neurodevelopment [scRNA-seq]

Project description:In this study, we performed single RNA sequencing in 1-month and 2-month cortical organoids derived from wild-type and Ctcf heterozygous hESCs.

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Developmental analysis of spliceosomal snRNA isoform expression.

Project description:Pre-mRNA splicing is a critical step in eukaryotic gene expression that contributes to proteomic, cellular, and developmental complexity. Small nuclear (sn)RNAs are core spliceosomal components; however, the extent to which differential expression of snRNA isoforms regulates splicing is completely unknown. This is partly due to difficulties in the accurate analysis of the spatial and temporal expression patterns of snRNAs. Here, we use high-throughput RNA-sequencing (RNA-seq) data to profile expression of four major snRNAs throughout Drosophila development. This analysis shows that individual isoforms of each snRNA have distinct expression patterns in the embryo, larva, and pharate adult stages. Expression of these isoforms is more heterogeneous during embryogenesis; as development progresses, a single isoform from each snRNA subtype gradually dominates expression. Despite the lack of stable snRNA orthologous groups during evolution, this developmental switching of snRNA isoforms also occurs in distantly related vertebrate species, such as Xenopus, mouse, and human. Our results indicate that expression of snRNA isoforms is regulated and lays the foundation for functional studies of individual snRNA isoforms.

| S-EPMC4291461 | biostudies-literature

Dissecting mammalian immunity through mutation.

Project description:Although mutation and natural selection have given rise to our immune system, a well-placed mutation can also cripple it, and within an expanding population we are recognizing more and more cases of single-gene mutations that compromise immunity. These mutations are an ideal tool for understanding human immunology, and there are more ways than ever to measure their physiological effects. There are also more ways to create mutations in the laboratory, and to use these resources to systematically define the function of every gene in our genome. This review focuses on the discovery and creation of mutations in the context of mammalian immunity, with an emphasis on the use of genome-wide chemical and CRISPR/Cas9 mutagenesis to reveal gene function.

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Genetics of human developmental brain disorders

Project description:<p>Developmental brain malformations are at the core of significant neurological diseases affecting many families in the United States and around the world. It is known that epilepsy, specific learning deficits and intellectual disability, cerebral palsy, and abnormalities of brain volume can be attributed in many cases to pathological malformations of the cerebral cortex. Although these consequences, such as epilepsy and intellectual disability, might appear broadly in the population as due to complex traits, this study's focus on those associated with cortical malformations highlights individual developmental pathways likely represented by innumerable and rare Mendelian alleles. Research has thus far uncovered dozens of genes responsible for these conditions and dissected the mechanisms underlying early cortical development in animals. However, this progress represents only the dawn of understanding the complex genetic network and neuronal architecture of the uniquely human cerebral cortex.</p> <p>The overall goal of this study is to define the genetic bases of human cerebral cortical development. This is accomplished through (1) the ascertainment of families with disorders of human brain development and malformation, (2) categorizing these using medical, physical and neuroimaging data, and (3) mapping and identifying the gene causing the disorder of cortical development, which can then be investigated for its normal expression and function, and role in human disease.</p>

| phs000492.v1.p1 | EGA

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