Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Effect of USB1 mutation on global transcriptome during hESC-derived definitive hematopoiesis

ABSTRACT: USB1 mutations lead to poikiloderma with neutropenia. We investigated the effect of inactivating USB1 on the global transcriptome in undifferentiated hESCs and differentiated hematopoietic progeny

ORGANISM(S): Homo sapiens

PROVIDER: GSE224432 | GEO | 2023/02/07

REPOSITORIES: GEO

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
		Other

Items per page:

1 - 1 of 1

Similar Datasets

Effects of USB1 mutation on global miRNome during hESC-derived definitive hematopoiesis

Project description:USB1 mutations lead to poikiloderma with neutropenia. We investigated the effect of inactivating USB1 on the global miRome in undifferentiated and differentiated hematopoietic stem cells

2023-02-07 | GSE224431 | GEO

Effect of USB1 depletion on global miRNome in human embryonic stem cells and K562

Project description:USB1 mutations lead to poikiloderma with neutropenia. We investigated the effect of inactivating USB1 on the global miRNome in undifferentiated hESCs and K562

2024-02-05 | GSE224501 | GEO

Effects of USB1 knockout on global miRNome in K562 cells

Project description:USB1 mutations lead to poikiloderma with neutropenia. We investigated the effect of inactivating USB1 on the global miRome in K562 cells

2023-02-07 | GSE224430 | GEO

Mutation of kri1l causes definitive hematopoiesis failure via PERK-dependent excessive autophagy induction.

Project description:Dysregulation of ribosome biogenesis causes human diseases, such as Diamond-Blackfan anemia, del (5q-) syndrome and bone marrow failure. However, the mechanisms of blood disorders in these diseases remain elusive. Through genetic mapping, molecular cloning and mechanism characterization of the zebrafish mutant cas002, we reveal a novel connection between ribosomal dysfunction and excessive autophagy in the regulation of hematopoietic stem/progenitor cells (HSPCs). cas002 carries a recessive lethal mutation in kri1l gene that encodes an essential component of rRNA small subunit processome. We show that Kri1l is required for normal ribosome biogenesis, expansion of definitive HSPCs and subsequent lineage differentiation. Through live imaging and biochemical studies, we find that loss of Kri1l causes the accumulation of misfolded proteins and excessive PERK activation-dependent autophagy in HSPCs. Blocking autophagy but not inhibiting apoptosis by Bcl2 overexpression can fully rescue hematopoietic defects, but not the lethality of kri1l(cas002) embryos. Treatment with autophagy inhibitors (3-MA and Baf A1) or PERK inhibitor (GSK2656157), or knockdown of beclin1 or perk can markedly restore HSPC proliferation and definitive hematopoietic cell differentiation. These results may provide leads for effective therapeutics that benefit patients with anemia or bone marrow failure caused by ribosome disorders.

| S-EPMC4528055 | biostudies-literature

Effects of USB1 mutation on global miRNome during hESC-derived definitive hematopoiesis

Project description:Effects of USB1 mutation on global miRNome during hESC-derived definitive hematopoiesis

| PRJNA931236 | ENA

Effect of USB1 mutation on global transcriptome during hESC-derived definitive hematopoiesis

Project description:Effect of USB1 mutation on global transcriptome during hESC-derived definitive hematopoiesis

| PRJNA931235 | ENA

A germline point mutation in Runx1 uncouples its role in definitive hematopoiesis from differentiation.

Project description:Definitive hematopoiesis requires the master hematopoietic transcription factor Runx1, which is a frequent target of leukemia-related chromosomal translocations. Several of the translocation-generated fusion proteins retain the DNA binding activity of Runx1, but lose subnuclear targeting and associated transactivation potential. Complete loss of these functions in vivo resembles Runx1 ablation, which causes embryonic lethality. We developed a knock-in mouse that expresses full-length Runx1 with a mutation in the subnuclear targeting cofactor interaction domain, Runx1(HTY350-352AAA). Mutant mice survive to adulthood, and hematopoietic stem cell emergence appears to be unaltered. However, defects are observed in multiple differentiated hematopoietic lineages at stages where Runx1 is known to play key roles. Thus, a germline mutation in Runx1 reveals uncoupling of its functions during developmental hematopoiesis from subsequent differentiation across multiple hematopoietic lineages in the adult. These findings indicate that subnuclear targeting and cofactor interactions with Runx1 are important in many compartments throughout hematopoietic differentiation.

| S-EPMC3909992 | biostudies-literature

Gene expression analysis of hESC-derived-MESP1 expressing progenitors

Project description:A hESC MESP1-MCHERRY reporter line was used to isolate and study the molecular character of MESP1 expressing pre-cardiac progenitors, derived from hESC. MESP1 is a key-transcription factor for pre-cardiac mesoderm and is marking the progenitor for almost all cells of the heart. This reporter line was used to study cardiac differentiation and the derivation of early cardiac progenitors in vitro. hESCs were differentiated towards the cardiac lineage, expressing MESP1-mCherry at day 3 of differentiation. Total RNA obtained from isolated MESP1-mCherry expressing progenitors was compared to that of non-MESP1-expressing progenitors and undifferentiated hESCs in order to characterize MESP1-specific transcription factors and proteins.

2014-09-01 | E-GEOD-56721 | biostudies-arrayexpress

Transcription profiling by high throughput sequencing of MPN1 deficient human cells

Project description:Clericuzio-type poikiloderma with neutropenia (PN, Mendelian Inheritance in Man (MIM) accession 604173) is a rare genodermatosis associated to mutations in the MPN1 gene. The aim of this experiment was to investigate the the effect of MPN1 mutations on pre-mRNA transcripts maturation. We compared the transcriptome obtained from 2 lymphoblastoid immortal cell lines from PN patients with the one of a lymphoblastoid cell line established from the healthy brother of one of the patient. The trasncriptome was generated by single-end RNA-Seq.

2012-07-27 | E-MTAB-1197 | biostudies-arrayexpress

Transcription profiling of human embryonic stem cell (hESC) derived mesenchymal precursor cell populations

Project description:We have developed efficient protocols for the derivation of mesenchymal precursors from hESCs. While previous protocols were based on mesodermal induction via co-culture of hESCs on OP9 mouse stroma (Barberi et al., PLoS Biology, 2005), our recent work shows the derivation of hESC derived mesenchymal precurors under feeder-free conditions. The data presented here show a large and highly signficant overlap in global gene expression profiles between hESC derived mesenchymal precursors derived under feeder-free conditions with those derived via OP9 co-culure and mesenchymal precurosrs isolated directly from the adult bone marrow. Experiment Overall Design: These data compare the gene expression profiles of hESC derived mesenchymal precursors derived via the OP9 protocol, with those obtained under feeder-free conditions and adult bone marrow derived mesenchymal precursors. Three samples of undifferentiated hESCs are used for subtracting genes to define mesenchymal precurosr cell specific signatures (see Barberi et al. Nature Medicine 2007 for details).

2008-06-15 | E-GEOD-7332 | biostudies-arrayexpress

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data