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Characterization of SETBP1-deficient hESCs in vitro differentiated towards cortical neuroprogenitors and neurons

ABSTRACT: Characterization of SETBP1-deficient hESCs in vitro differentiated towards cortical neuroprogenitors and neurons

PROVIDER: PRJNA746989 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR15157300_1.fastq.gz	Fastqsanger.gz
	SRR15157300_2.fastq.gz	Fastqsanger.gz
	SRR15157302_1.fastq.gz	Fastqsanger.gz
	SRR15157302_2.fastq.gz	Fastqsanger.gz
	SRR15157304_1.fastq.gz	Fastqsanger.gz

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Characterization of SETBP1-deficient hESCs in vitro differentiated towards cortical neuroprogenitors and neurons

Project description:Disruptions of SETBP1 (SET binding protein 1) on 18q12.3 by heterozygous gene deletion or loss-of-function variants cause SETBP1 disorder. Clinical features are frequently associated with moderate to severe intellectual disability, autistic traits and speech and motor delays. Despite SETBP1 association with neurodevelopmental disorders, little is known about its possible role during brain development. Using CRISPR/CAS9 genome editing technology, we generated SETBP1-deficient hESC lines and found that the derived cortical neural progenitors (NPCs) exhibit protracted proliferation and distorted layer-specific neuronal differentiation with overall decrease in neurogenesis. We analysed by genome wide transcriptome profiling the DEG and dysregulated pathways related to SETBP1-deficiency.

2023-03-01 | GSE180185 | GEO

SETBP1-WT and SETBP1-G870S transcriptional profiles [RNA-Seq]

Project description:RNA-Seq experiments on SETBP1-G870S and Empty cells was performed in order to assess if the presence of mutated SETBP1 may induce differential RNA expression.

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Transcriptional regulation by SETBP1 and SETBP1(D/N) in mouse hematopoietic stem and progenitor cells

Project description:Global gene expression changes induced by Setbp1 and Setbp1(D/N) in purified mouse hematopoietic stem and progenitor cells were characterized by RNA-seq analysis; ChIP-seq studies to identify cooperation between SETBP1/SETBP1(D/N) and MLL1 in regulating gene transcription in hematopoietic stem and progenitor cells.

2021-12-17 | GSE167301 | GEO

SETBP1-WT and SETBP1-G870S epigenetic landscapes [ChIP-Seq]

Project description:ChIP-Seq experiments targeting H3K4me2, H3K4me3, H3K9ac, H3K27ac, H3K36me3 histone modifications have been performed in order to assess if SETBP1 binding to gDNA was associated with chromatin remodeling and to further characterize the mechanisms responsible for SETBP1-mediated transcriptional regulation

2017-09-01 | GSE86328 | GEO

SETBP1-WT and SETBP1-G870S epigenetic landscapes

Project description:SETBP1-WT and SETBP1-G870S epigenetic landscapes

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Transcription profiling by array of human embryonic stem cells differentiated towards an endodermal fate compared to clones subjected to EOMES knockdown via shRNA

Project description:Transcriptional profiling of hESCs differentiated towards an endodermal fate in chemically-defined media (3 days) compared to clones subjected to EOMES knockdown (via shRNA) under the same conditions.

2011-01-26 | E-MTAB-351 | biostudies-arrayexpress

RNA-seq of human ES cell lines HUES4 and H1, differentiated for 5 or 7 days towards pancreatic endoderm

Project description:The experiment was designed to unravel how endogenous signaling in differentiating hESCs is affected by exogenous factors. RNA-seq of human ES cell lines HUES4 and H1, differentiated for 5 or 7 days towards pancreatic endoderm. The cells were treated with IWP-L6, TGFb1 or both from day 3 and onwards. Vehicle controls were done with 0.1% DMSO.

2022-06-18 | E-MTAB-10715 | biostudies-arrayexpress

Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modelling.

Project description:Background: SETBP1 Haploinsufficiency Disorder (SETBP1-HD) is characterised by mild to moderate intellectual disability, speech and language impairment, mild motor developmental delay, behavioural issues, hypotonia, mild facial dysmorphisms, and vision impairment. Despite a clear link between SETBP1 mutations and neurodevelopmental disorders the precise role of SETBP1 in neural development remains elusive. We investigate three SETBP1 genetic variants including two pathogenic mutations p.Glu545Ter and SETBP1 p.Tyr1066Ter, resulting in removal of SKI and/or SET domains, and a point mutation p.Thr1387Met in the SET domain. Methods: Genetic variants were introduced into induced pluripotent stem cells (iPSCs) and subsequently differentiated into neurons to model the disease. We measured changes in cellular differentiation, SETBP1 protein localisation, and gene expression changes. Results: The data indicated a change in the WNT pathway, RNA polymerase II pathway and identified GATA2 as a central transcription factor in disease perturbation. In addition, the genetic variants altered the expression of gene sets related to neural forebrain development matching characteristics typical of the SETBP1-HD phenotype. Limitations: The study investigates changes in cellular function in differentiation of iPSC to neural progenitor cells as a human model of SETBP1 HD disorder. Future studies may provide additional information relevant to disease on further neural cell specification, to derive mature neurons, neural forebrain cells, or brain organoids. Conclusions: We developed a human SETBP1-HD model and identified perturbations to the WNT and POL2RA pathway, genes regulated by GATA2. Strikingly neural cells for both the SETBP1 truncation mutations and the single nucleotide variant displayed a SETBP1-HD-like phenotype.

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SETBP1-WT and SETBP1-G870S DNA binding propensity [ChIP-Seq TF]

Project description:ChIP-seq against V5 has been performed in order to investigate the role of SETBP1 as a DNA binding protein

2017-09-01 | GSE86334 | GEO

Comparison non-targeting hRNA hESCs versus UBE2K shRNA hESCs

Project description:Histones modulate gene expression by chromatin compaction, regulating numerous processes such as differentiation. However, the mechanisms underlying histone degradation remain elusive. When compared with their differentiated counterparts, immortal human embryonic stem cells (hESCs) have a unique chromatin architecture and low levels of trimethylated histone H3 at lysine 9 (H3K9me3), a heterochromatin-associated modification. Here we assess a link between the intrinsic epigenetic landscape and ubiquitin-proteasome system of hESCs. We find that hESCs exhibit high expression of UBE2K, a ubiquitin-conjugating enzyme. Loss of UBE2K increases the levels of H3K9 trimethyltransferase SETDB1, resulting in H3K9 trimethylation and repression of neurogenic genes during differentiation. Concomitantly, loss of UBE2K impairs the ability of hESCs to differentiate into neural progenitors with neurogenic properties. Besides H3K9 trimethylation, we find that UBE2K binds histone H3 to induce its polyubiquitination and degradation by the proteasome. Notably, ubc-20, the worm orthologue of UBE2K, also regulates both histone H3 levels and H3K9 trimethylation in C. elegans germline. Thus, our results indicate that UBE2K crosses evolutionary boundaries to promote histone H3 degradation and reduce H3K9me3 repressive marks in immortal cells.

2020-06-01 | PXD018625 | Pride

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