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RNA-seq analysis of CRISPR/Cas9 generated human BMPR2 deficient endothelial cell lines harboring mutations characteristic for hereditary pulmonary hypertension (HPAH)

ABSTRACT: RNA-seq analysis of CRISPR/Cas9 generated human BMPR2 deficient endothelial cell lines harboring mutations characteristic for hereditary pulmonary hypertension (HPAH)

PROVIDER: PRJNA558374 | ENA |

REPOSITORIES: ENA

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RNA-seq analysis of CRISPR/Cas9 generated human BMPR2 deficient endothelial cell lines harboring mutations characteristic for hereditary pulmonary hypertension (HPAH)

Project description:Balanced TGFβ/BMP-signalling is essential for tissue formation and homeostasis. While gain in TGFβ signaling is often found in diseases, the underlying cellular mechanisms remain poorly defined. Here we show, that the receptor BMPR2 serves as a central gatekeeper of this balance, highlighted by its deregulation in diseases such as pulmonary arterial hypertension (PAH). We show that BMPR2-deficient cells express genes indicative for altered biophysical properties including up-regulation of ECM proteins and integrins.

2019-11-14 | GSE135312 | GEO

Effect of BMPR2 mutation on vascular smooth muscle gene expression

Project description:BMPR2 mutation is the cause of most hereditary pulmonary arterial hypertension, but the common molecular consequence of different types of BMPR2 mutation is still not known. The goal of this study was to determine the common molecular consequences of three different classes of patient-derived BMPR2 mutation in vascular smooth muscle gene expression. Three different classes of BMPR2 mutation, wild-type BMPR2, or empty vector were stably transfected into A7R5 vascular smooth muscle cells, and expression compared.

2010-08-25 | E-GEOD-21573 | biostudies-arrayexpress

Bmpr2 mutation in murine PMVEC

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Effect of BMPR2 mutation on vascular smooth muscle gene expression

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Reduced FOXF1 Links Unrepaired DNA Damage to Pulmonary Arterial Hypertension

Project description:Pulmonary arterial hypertension (PAH) is a progressive disease in which pulmonary arterial (PA) endothelial cell (EC) dysfunction is associated with unrepaired DNA damage. BMPR2 is the most common mutant gene in PAH. We report that human PAEC with reduced BMPR2 have persistent DNA damage in room air after hypoxic exposure (reoxygenation), as do mice with EC deletion of Bmpr2 (EC-Bmpr2-/-) and persistent pulmonary hypertension. Similar findings are observed in PAEC with loss of the DNA damage sensor ATM, and in mice with Atm deleted in EC (EC-Atm-/-). Gene expression analysis of EC-Atm-/- and EC-Bmpr2-/- lung EC revealed reduced Foxf1, a transcription factor with relative selectivity for lung EC. Reducing FOXF1 in control PAEC induced DNA damage and impaired angiogenesis whereas transfection of FOXF1 in PAH PAEC repaired DNA damage and restored angiogenesis. Lung EC targeted delivery of Foxf1 to reoxygenated EC-Bmpr2-/- mice repaired DNA damage, induced angiogenesis and reversed pulmonary hypertension.

2023-08-15 | GSE215933 | GEO

Bmpr2 mutation in murine PMVEC

Project description:Pulmonary arterial hypertension (PAH) is thought to be driven by dysfunction of pulmonary vascular microendothelial cells (PMVEC). Most hereditary PAH is associated with BMPR2 mutations. However, the physiologic and molecular consequences of expression of BMPR2 mutations in PMVEC are unknown. PMVEC were isolated from triple transgenic mice carrying the immortomouse gene, a transactivator, and either control, Bmpr2delx4+ or Bmpr2R899X mutation

2011-07-01 | E-GEOD-28043 | biostudies-arrayexpress

iPSCs Reveal Protective Modifiers of the BMPR2 mutation in Pulmonary Arterial Hypertension

Project description:The goal of this study is to compare transcriptome profiling (RNA-seq) in controls, unaffected BMPR2 mutation carriers and affected familial pulmonary arterial hypertension patients, to elucidate a protective feature in iPS derived endothelial cells from the mutation carriers.

2017-01-18 | GSE79613 | GEO

Effects of ACE2 on BMPR2 mutation-mediated defects in gene expression

Project description:BMPR2 mutation causes pulmonary arterial hypertension (PAH); ACE2 treatment can resolve established BMPR2-mediated PAH. The purpose of this study was to uncover the molecular mechanism behind this. Four groups: +/- ACE2 and +/- BMPR2 transgene, two arrays each, each array a pool of three animals.

2010-08-24 | E-GEOD-21583 | biostudies-arrayexpress

Transcription profiling by array of human BMPR2 mutation carriers with and without evidence of pulmonary arterial hypertension

Project description:Background: While BMPR2 mutation strongly predisposes to pulmonary arterial hypertension (PAH), only 20% of mutation carriers develop clinical disease. This finding suggests that modifier genes contribute to FPAH clinical expression. Since modifiers are likely to be common alleles, this problem is not tractable by traditional genetic approaches. Further, examination of gene expression is complicated by confounding effects attributable to drugs and the disease process itself. Methods: To resolve these problems, B-cells were isolated, EBV-immortalized, and cultured from familial PAH patients with BMPR2 mutations, mutation positive but disease-free family members, and family members without mutation. This allows examination of differences in gene expression without drug or disease-related effects. These differences were assayed by Affymetrix array, with follow-up by quantitative RT-PCR and additional statistical analyses. Results: By gene array, we found consistent alterations in multiple pathways with known relationship to PAH, including actin organization, immune function, calcium balance, growth, and apoptosis. Selected genes were verified by quantitative RT-PCR using a larger sample set. Analysis of overrepresented gene ontology groups suggests that it is pathway-specific, not gene-specific changes that carry increased risk of disease. Conclusions: B-cell lines are a valuable and accessible tool for assaying alterations in gene expression free from drug and disease effects. Predisposition to disease within BMPR2 mutation carriers was linked to several pathways, including proliferation, GTP signaling, and stress response. Experiment Overall Design: Immortalized B-cells from BMPR2 mutation carriers with and without disease are compared to search for modifier genes

2008-10-25 | E-GEOD-10767 | biostudies-arrayexpress

Effects of ACE2 on BMPR2 mutation-mediated defects in gene expression

2010-08-25 | GSE21583 | GEO

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