UBE3A Deficiency Downregulates Retinoic Acid Signalling Pathway
Ontology highlight
ABSTRACT:
PROVIDER: PRJNA714431 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:Ubiquitin-protein ligase E3A (UBE3A) has dual functions as a E3 ubiquitin-protein ligase and coactivator of nuclear hormone receptors. Mutations or deletions of the maternally inherited UBE3A gene cause Angelman syndrome. Here, we performed transcriptome profiling in the hippocampus of Ube3am+/p+ and Ube3am-/p+ mice, and determined that the expression of the retinoic acid (RA) signalling pathway was downregulated in Ube3a-deficient mice compared to WT mice. Furthermore, we demonstrated that UBE3A directly interacts with RARα and may function as a coactivator of the nuclear receptor RARα to participate in the regulation of gene expression. Loss of UBE3A expression caused the downregulation of the expression of RA-related genes, including Erbb4, Dpysl3, Calb1, Pten and Arhgap5 in Ube3am-/p+ mice brain tissues. This work revealed a new role for UBE3A in regulating retinoic acid (RA) signalling downstream genes and hopefully to shed light on the potential drug target of AS.
2021-03-15 | GSE168889 | GEO
Project description:MYB-NFIB fusion and NOTCH1 mutation are hallmark genetic events familiar in SACC that promote lung metastasis. However, abnormal expression of MYB and NOTCH1 was also observed in without MYB-NFIB fusion and NOTCH1 mutation. Here, through single-cell RNA sequencing (scRNA-seq) and exome target capture sequencing in two SACC patients without MYB-NFIB fusion and NOTCH1 mutation, we explore in-depth the molecular mechanisms of lung metastasis. Twenty-five types of cells in primary and metastatic tissues were identified via Seurat clustering and categorized into four main stages ranging from near normal to cancer state based on the normal tissue occupancy for each cell cluster. In this context, we identified the Notch signalling pathway enrichment in almost all cancer cells; trajectory and sub-clustering analyses investigated deeply cancer progenitor-like cell clusters in primary tumour-associated lung metastases, in which signature genes enriched in the ‘MYC_TARGETS_V2’ gene set. In vitro, we detected the complexes of the NICD1-MYB-MYC by Co-immunoprecipitation (Co-IP) and incidentally identified retinoic acid (RA) signalling as endogenous antagonists of the ‘MYC_TARGETS_V2’ gene set. Following this, we validate that all-trans retinoic acid (ATRA) reduces the lung metastasis in SACC via correcting erroneous cell differentiation mainly caused by aberrant NOTCH1 or MYB expression. Bioinformatic and immunohistochemical (IHC) analyses of four primary tissues and eleven metastatic lung tissues from patients with SACC suggested that RA system insufficiency partially promotes lung metastasis. These findings imply the value of diagnosis and treatment of the RA system.
2023-03-09 | GSE216913 | GEO
Project description:We are presenting the application of toxicogenomics in the evaluation of the toxic effects of retinoic acid and one of its isoforms the 9-cis retinoic acid. The main goal is to distinguish the pattern of action of the both chemical compounds and their action in an extended exposure. The results suggest a different pattern within the days and the chemicals. Representatives of each GO functional groups were selected and quantified by real-time PCR to validate the microarray data and to differentiate the action of retinoic acid compounds studied.
2015-12-31 | GSE41335 | GEO
Project description:MYB-NFIB fusion and NOTCH1 mutation are hallmark genetic events familiar in SACC that promote lung metastasis. However, abnormal expression of MYB and NOTCH1 was also observed in without MYB-NFIB fusion and NOTCH1 mutation. Here, through single-cell RNA sequencing (scRNA-seq) and exome target capture sequencing in two SACC patients without MYB-NFIB fusion and NOTCH1 mutation, we explore in-depth the molecular mechanisms of lung metastasis. Twenty-five types of cells in primary and metastatic tissues were identified via Seurat clustering and categorized into four main stages ranging from near normal to cancer state based on the normal tissue occupancy for each cell cluster. In this context, we identified the Notch signalling pathway enrichment in almost all cancer cells; trajectory and sub-clustering analyses investigated deeply cancer progenitor-like cell clusters in primary tumour-associated lung metastases, in which signature genes enriched in the ‘MYC_TARGETS_V2’ gene set. In vitro, we detected the complexes of the NICD1-MYB-MYC by Co-immunoprecipitation (Co-IP) and incidentally identified retinoic acid (RA) signalling as endogenous antagonists of the ‘MYC_TARGETS_V2’ gene set. Following this, we validate that all-trans retinoic acid (ATRA) reduces the lung metastasis in SACC via correcting erroneous cell differentiation mainly caused by aberrant NOTCH1 or MYB expression. Bioinformatic and immunohistochemical (IHC) analyses of four primary tissues and eleven metastatic lung tissues from patients with SACC suggested that RA system insufficiency partially promotes lung metastasis. These findings imply the value of diagnosis and treatment of the RA system.
2023-03-09 | GSE217084 | GEO
Project description:MYB-NFIB fusion and NOTCH1 mutation are hallmark genetic events familiar in SACC that promote lung metastasis. However, abnormal expression of MYB and NOTCH1 was also observed in without MYB-NFIB fusion and NOTCH1 mutation. Here, through single-cell RNA sequencing (scRNA-seq) and exome target capture sequencing in two SACC patients without MYB-NFIB fusion and NOTCH1 mutation, we explore in-depth the molecular mechanisms of lung metastasis. Twenty-five types of cells in primary and metastatic tissues were identified via Seurat clustering and categorized into four main stages ranging from near normal to cancer state based on the normal tissue occupancy for each cell cluster. In this context, we identified the Notch signalling pathway enrichment in almost all cancer cells; trajectory and sub-clustering analyses investigated deeply cancer progenitor-like cell clusters in primary tumour-associated lung metastases, in which signature genes enriched in the ‘MYC_TARGETS_V2’ gene set. In vitro, we detected the complexes of the NICD1-MYB-MYC by Co-immunoprecipitation (Co-IP) and incidentally identified retinoic acid (RA) signalling as endogenous antagonists of the ‘MYC_TARGETS_V2’ gene set. Following this, we validate that all-trans retinoic acid (ATRA) reduces the lung metastasis in SACC via correcting erroneous cell differentiation mainly caused by aberrant NOTCH1 or MYB expression. Bioinformatic and immunohistochemical (IHC) analyses of four primary tissues and eleven metastatic lung tissues from patients with SACC suggested that RA system insufficiency partially promotes lung metastasis. These findings imply the value of diagnosis and treatment of the RA system.
2023-03-09 | GSE217083 | GEO
Project description:MYB-NFIB fusion and NOTCH1 mutation are hallmark genetic events familiar in SACC that promote lung metastasis. However, abnormal expression of MYB and NOTCH1 was also observed in without MYB-NFIB fusion and NOTCH1 mutation. Here, through single-cell RNA sequencing (scRNA-seq) and exome target capture sequencing in two SACC patients without MYB-NFIB fusion and NOTCH1 mutation, we explore in-depth the molecular mechanisms of lung metastasis. Twenty-five types of cells in primary and metastatic tissues were identified via Seurat clustering and categorized into four main stages ranging from near normal to cancer state based on the normal tissue occupancy for each cell cluster. In this context, we identified the Notch signalling pathway enrichment in almost all cancer cells; trajectory and sub-clustering analyses investigated deeply cancer progenitor-like cell clusters in primary tumour-associated lung metastases, in which signature genes enriched in the ‘MYC_TARGETS_V2’ gene set. In vitro, we detected the complexes of the NICD1-MYB-MYC by Co-immunoprecipitation (Co-IP) and incidentally identified retinoic acid (RA) signalling as endogenous antagonists of the ‘MYC_TARGETS_V2’ gene set. Following this, we validate that all-trans retinoic acid (ATRA) reduces the lung metastasis in SACC via correcting erroneous cell differentiation mainly caused by aberrant NOTCH1 or MYB expression. Bioinformatic and immunohistochemical (IHC) analyses of four primary tissues and eleven metastatic lung tissues from patients with SACC suggested that RA system insufficiency partially promotes lung metastasis. These findings imply the value of diagnosis and treatment of the RA system.
2023-03-09 | GSE217082 | GEO
Project description:Comparison of gene expressions among osteogenic differentiated cells with retinoic acid, those without retinoic acid and cells before induction
2018-12-21 | GSE119577 | GEO
Project description:We performed pulldown assays followed by mass-spectrometry analysis using biotin-tagged 13-cis retinoic acid to identify its binding targets in HeLa cells
2022-01-14 | PXD029579 | Pride
Project description:MYB-NFIB fusion and NOTCH1 mutation are hallmark genetic events familiar in SACC that promote lung metastasis. However, abnormal expression of MYB and NOTCH1 was also observed in without MYB-NFIB fusion and NOTCH1 mutation. Here, through single-cell RNA sequencing (scRNA-seq) and exome target capture sequencing in two SACC patients without MYB-NFIB fusion and NOTCH1 mutation, we explore in-depth the molecular mechanisms of lung metastasis. Twenty-five types of cells in primary and metastatic tissues were identified via Seurat clustering and categorized into four main stages ranging from near normal to cancer state based on the normal tissue occupancy for each cell cluster. In this context, we identified the Notch signalling pathway enrichment in almost all cancer cells; trajectory and sub-clustering analyses investigated deeply cancer progenitor-like cell clusters in primary tumour-associated lung metastases, in which signature genes enriched in the ‘MYC_TARGETS_V2’ gene set. In vitro, we detected the complexes of the NICD1-MYB-MYC by Co-immunoprecipitation (Co-IP) and incidentally identified retinoic acid (RA) signalling as endogenous antagonists of the ‘MYC_TARGETS_V2’ gene set. Following this, we validate that all-trans retinoic acid (ATRA) reduces the lung metastasis in SACC via correcting erroneous cell differentiation mainly caused by aberrant NOTCH1 or MYB expression. Bioinformatic and immunohistochemical (IHC) analyses of four primary tissues and eleven metastatic lung tissues from patients with SACC suggested that RA system insufficiency partially promotes lung metastasis. These findings imply the value of diagnosis and treatment of the RA system. Cells from fresh tumour tissues were isolated for the preparation of single-cell suspensions via the ChromiumTM Single Cell 3’ Solution technique and analysed by BioMiao Biological Technology (Beijing) Co., Ltd.
2023-03-09 | GSE217081 | GEO
Project description:Neural induction of ES by Retinoic acid Neural induction of ES by Retinoic acid
2010-06-11 | E-GEOD-4075 | biostudies-arrayexpress