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RNA-seq of human donors with severe type 1 interferonopathy due to germline STAT2 gain-of-function

ABSTRACT: RNA-seq of human donors with severe type 1 interferonopathy due to germline STAT2 gain-of-function

PROVIDER: PRJEB41073 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	ERR4785850_1.fastq.gz	Fastqsanger.gz
	ERR4785850_2.fastq.gz	Fastqsanger.gz
	ERR4785860_1.fastq.gz	Fastqsanger.gz
	ERR4785860_2.fastq.gz	Fastqsanger.gz
	ERR4785870_1.fastq.gz	Fastqsanger.gz

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Severe type 1 interferonopathy due to germline STAT2 gain-of-function

Project description:Severe type 1 interferonopathy due to germline STAT2 gain-of-function

| PRJEB29090 | ENA

Severe type 1 interferonopathy due to germline STAT2 gain-of-function

Project description:The transcription factor STAT2 is essential for transcriptional activation downstream of the receptors for the innate IFNs -α/β (IFNAR) and -gamma (IFNLR). STAT2 is activated by tyrosine phosphorylation, associating with STAT1 and IRF9 to form the Interferon-Stimulated Gene Factor 3 (ISGF3) to effect gene transcription. Loss-of-function variants in STAT2 increase susceptibility to viral disease. Here a transcriptome study is reported on an individual with severe early-onset neuroinflammatory disease and an elevated IFN signature. The individual had a homozygous missense variant in STAT2 and symptoms consistent with a gain-of-function effect.

2019-11-06 | E-MTAB-7275 | biostudies-arrayexpress

RNA-seq of human donors with severe type 1 interferonopathy due to germline STAT2 gain-of-function

Project description:Patients with type 1 interferonopathies due to mutations in one of 10 genes were recruited over the course of 4 years. All patients had raised levels of interferon stimulated genes as determined by qPCR. A transcriptome analysis was carried out to compare levels of interferon stimulated genes in the patient with a mutation in STAT2, compared to patients with mutations in other interferonopathy genes.

2020-11-03 | E-MTAB-9722 | biostudies-arrayexpress

STAT2 Signaling Regulates Macrophage Phenotype during Influenza and Bacterial Super-infection

Project description:Influenza is the common respiratory problem that infects between 5-20% of the US population and results in 30,000 deaths annually. A primary cause of the influenza-associated death is due to secondary bacterial pneumonia. In this study, we investigated the role of STAT2 signaling during influenza and influenza-bacterial super-infection in mice. Herein, we demonstrate that STAT2 signaling is required for viral control, regulation of inflammation, and limiting mortality during influenza single infection. Surprisingly, despite this deficiency in anti-viral immunity, we found increased bacterial control and survival in STAT2 deficient mice during influenza-MRSA super-infection compared to controls. This protection in the absence of STAT2 was associated with accumulation of dual phenotype M1/M2 macrophages, which were required for control of bacterial infection. Together, these results suggest that the STAT2 signaling is involved in suppressing macrophage activation and bacterial control during influenza-bacterial super-infection.

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Comparative Gene expression analysis of 2fTGH cells expressing Wild type STAT2 vs S734A-STAT2 in response to IFN-α or TNF-α

Project description:STAT2 is an essential transcription factor in type I interferon (IFN) signaling. STAT2 is activated following exposure to IFN stimulation by phosphorylation at tyrosine-690. This post-translational modification permits the assembly and nuclear retention of the ISGF3 complex (consisting of STAT1/STAT2/IRF9) to drive gene transcription. We recently identified STAT2 to be serine phosphorylated in an IFN-dependent manner. The biological significance of these novel phosphorylation events in STAT2 remain to be elucidated. Thus far our data show that serine phosphorylation of STAT2 negatively regulates the biological effects of IFN. In an effort to understand the scope of STAT2 serine phosphorylation in IFN signaling, we conducted comparative microarray analysis to identify a collection of genes that are regulated by phosphorylated Ser734-STAT2 vs. unphosphorylated S734-STAT2 after IFN treatment.

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Identification of a STAT2 transcriptome in HCT116 p53 null tumor xenografts

Project description:Our previous study revealed that the transcription factor STAT2 promoted the growth of colorectal tumors, but the molecular mechanisms by which STAT2 contributes to tumor promotion are still unknown. Given that alterations in the tumor suppressor p53 gene are very common in colorectal cancer and critical in adenoma-carcinoma transition, we investigated whether STAT2 may also be implicated in disease progression when normal p53 function is disabled. We found Stat2 silencing in colon cancer cells deficient in p53 reduced the capacity of tumor cells to migrate and invade in vitro. We also determined that Stat2 silencing impaired tumor cells to metastasize to the liver. To begin to understand how STAT2 contributes to disease progression, we performed RNA-Seq analysis on colon tumor xenografts with the purpose to identify a STAT2 transcriptome. From this study, we identified a subset of STAT2 regulated genes that in future studies will confirm their role in colon carcinogenesis.

2020-11-17 | GSE137155 | GEO

Negative regulation of Type I IFN signaling by phosphorylation of STAT2 on T387

Project description:The samples were derived from STAT2 IP experiments from human fibrosarcoma cells. This experiment involved the transfection of cells with a flag tagged STAT2 and the goal of these experiments is to identify STAT2 binding partners.

2018-10-26 | PXD005008 | Pride

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

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

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