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Human Germline Heterozygous Gain-of-Function STAT6 Variants Cause Severe Allergic Disease [bulk_RNAseq]

ABSTRACT: We descrie a cohort of 10 families, with 16 patients, that presented with severe early onset allergic disease since birth. Disease inhertance was in an autosomal dominant manner and heterozygous variants in STAT6 were identified in all patients. Whole blood bulk RNAsequencing was done on patient 6 to understand treatment specific transcriptomic changes in this patient.

ORGANISM(S): Homo

PROVIDER: GSE215390 | GEO | 2023/02/20

REPOSITORIES: GEO

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Human Germline Heterozygous Gain-of-Function STAT6 Variants Cause Severe Allergic Disease

Project description:We descrie a cohort of 10 families, with 16 patients, that presented with severe early onset allergic disease since birth. Disease inhertance was in an autosomal dominant manner and heterozygous variants in STAT6 were identified in all patients. Whole blood bulk RNAsequencing was done on patient 6 to understand treatment specific transcriptomic changes in this patient.

2023-02-20 | GSE222646 | GEO

Human Germline Heterozygous Gain-of-Function STAT6 Variants Cause Severe Allergic Disease [scRNAseq]

2023-02-20 | GSE215405 | GEO

Human Germline Heterozygous Gain-of-Function STAT6 Variants Cause Severe Allergic Disease

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

2023-02-20 | GSE215406 | GEO

Identification of novel STAT6-regulated proteins in mouse B cells by comparative transcriptome and proteome analysis

Project description:IL-4/STAT6-regulated transcriptome and proteome were compared in primary B cells isolated from wild-type and STAT6-deficient mice. B cells were purified from the spleen and stimulated in vitro with anti-CD40 and LPS or anti-IgM-F(ab)2 in the presence or absence of IL-4. Transcriptome analysis was performed with oligonucleotide microarrays. Global relative quantification of proteins was achieved by gel-enhanced label-free liquid chromatography/mass spectrometry (LC/MS). Hierarchical clustering and principal component analysis revealed that IL-4-induced changes of the transcriptome were almost completely dependent on STAT6. In contrast, the quantitative proteome analysis revealed that the expression of many IL-4-regulated proteins changes even in the absence of STAT6. The top 75 proteins with changes in abundance levels induced by IL-4 in a STAT6-dependent manner were also found to be regulated at the transcriptional level. Most of these proteins were not previously known to be regulated by STAT6 in B cells. We confirmed the MS-based quantitative proteome data by flow cytometric and Western blot analysis of selected proteins. This study provides a framework for further functional characterization of STAT6-regulated proteins in B cells that might be involved in germinal center formation and class switch recombination.

2017-03-06 | PXD005224 | Pride

Gene expression in WT and Stat6 KO intestinal stem cells

Project description:Purpose: To examine the expression profile of WT and Stat6 KO intestinal stem cells. Methods: We isolated Lgr5+ ISCs from the intestine tissue, and generated Stat6 KO ISCs through CRISPR/Cas9 approach. Results: Many genes are changed upon Stat6 KO cells. We pay special attention on Wnt/β-catenin signaling that is the most critical pathway in ISCs, and discovered Stat6 drove the expression of Wnt target genes. Conclusions: Stat6 crosstalks with Wnt signaling to drive ISC self-renewal.

2018-12-05 | GSE123353 | GEO

Heterozygous mutations of OTX2 cause severe ocular malformations.

Project description:Major malformations of the human eye, including microphthalmia and anophthalmia, are examples of phenotypes that recur in families yet often show no clear Mendelian inheritance pattern. Defining loci by mapping is therefore rarely feasible. Using a candidate-gene approach, we have identified heterozygous coding-region changes in the homeobox gene OTX2 in eight families with ocular malformations. The expression pattern of OTX2 in human embryos is consistent with the eye phenotypes observed in the patients, which range from bilateral anophthalmia to retinal defects resembling Leber congenital amaurosis and pigmentary retinopathy. Magnetic resonance imaging scans revealed defects of the optic nerve, optic chiasm, and, in some cases, brain. In two families, the mutations appear to have occurred de novo in severely affected offspring, and, in two other families, the mutations have been inherited from a gonosomal mosaic parent. Data from these four families support a simple model in which OTX2 heterozygous loss-of-function mutations cause ocular malformations. Four additional families display complex inheritance patterns, suggesting that OTX2 mutations alone may not lead to consistent phenotypes. The high incidence of mosaicism and the reduced penetrance have implications for genetic counseling.

| S-EPMC1196439 | biostudies-literature

Activation of STAT6 by STING Is Critical for Antiviral Innate Immunity

Project description:Analysis of the transcriptional response of HEK293 or HEK293-STAT6 stable cell lines to poly(I:C) transfection. The hypothesis tested was that poly(I:C) transfection is capable of inducing the expression of STAT6-dependent antiviral genes. mRNA isolated from HEK293 or HEK293-STAT6 stable cell lines with control treatment or poly(I:C) transfection for 16 hours.

2011-11-21 | E-GEOD-26435 | biostudies-arrayexpress

Heterozygous <i>OAS1</i> gain-of-function variants cause an autoinflammatory immunodeficiency.

Project description:Analysis of autoinflammatory and immunodeficiency disorders elucidates human immunity and fosters the development of targeted therapies. Oligoadenylate synthetase 1 is a type I interferon-induced, intracellular double-stranded RNA (dsRNA) sensor that generates 2'-5'-oligoadenylate to activate ribonuclease L (RNase L) as a means of antiviral defense. We identified four de novo heterozygous OAS1 gain-of-function variants in six patients with a polymorphic autoinflammatory immunodeficiency characterized by recurrent fever, dermatitis, inflammatory bowel disease, pulmonary alveolar proteinosis, and hypogammaglobulinemia. To establish causality, we applied genetic, molecular dynamics simulation, biochemical, and cellular functional analyses in heterologous, autologous, and inducible pluripotent stem cell-derived macrophages and/or monocytes and B cells. We found that upon interferon-induced expression, OAS1 variant proteins displayed dsRNA-independent activity, which resulted in RNase L-mediated RNA cleavage, transcriptomic alteration, translational arrest, and dysfunction and apoptosis of monocytes, macrophages, and B cells. RNase L inhibition with curcumin modulated and allogeneic hematopoietic cell transplantation cured the disorder. Together, these data suggest that human OAS1 is a regulator of interferon-induced hyperinflammatory monocyte, macrophage, and B cell pathophysiology.

| S-EPMC8392508 | biostudies-literature

Genome-wide detection of STAT6 binding sites in IL-4 treated naive human CD4+ T cells

Project description:STAT6 is a major transcription factor driving the polarization of Th2 cells in response to IL-4. STAT6 is phosphorylated by Jak1 and Jak3 kinases at the IL-4 receptor, after which phosphorylated STAT6 forms a homodimer and translocates into the nucleus. There STAT6 binds to specific DNA sequences, regulating the transcription of its target genes. Here we have analyzed on a genome wide level the STAT6 binding sites, after 1h and 4h of IL-4 induction, in naive human CD4+ T cells. Keywords: SRA Altogether 5 samples from 1 biological replicate were analyzed. Activated and IL-4 treated samples were compared to only activated or untreated samples to identify unique STAT6 binding sites after IL-4 induction.

2010-06-25 | E-GEOD-17850 | biostudies-arrayexpress

STAT6-regulated genes in mouse B cells

Project description:The IL-4-induced and STAT6-dependent gene expression profile in mouse B cells was analyzed. Untouched B cells from 9 weeks old female Ly5.1-congenic wild-type and Ly5.2-congenic STAT6-deficient mice, both on BALB/c background, were isolated from the spleen and stimulated for 4 days in vitro with LPS and anti-CD40 in the presence or absence of IL-4.

2017-03-06 | GSE84075 | GEO

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