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A mutation in the viral sensor 2’-5’-oligoadenylate synthetase 2 causes failure of lactation.

ABSTRACT: A mutation in the viral sensor 2’-5’-oligoadenylate synthetase 2 causes failure of lactation.

PROVIDER: PRJNA285358 | ENA |

REPOSITORIES: ENA

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A mutation in the viral sensor 2’-5’-oligoadenylate synthetase 2 causes failure of lactation. [mouse]

Project description:We identified a non-synonymous mutation in Oas2 (I405N), a sensor of viral double-stranded RNA, from an ENU-mutagenesis screen designed to discover new genes involved in mammary development. The mutation caused post-partum failure of lactation in healthy mice with otherwise normally developed mammary glands, characterized by greatly reduced milk protein synthesis coupled with epithelial cell death, inhibition of proliferation and a robust interferon response. Expression of mutant but not wild type Oas2 in cultured HC-11 or T47D mammary cells recapitulated the phenotypic and transcriptional effects observed in the mouse. The mutation activates the OAS2 pathway, demonstrated by a 100-fold increase in RNase L activity, and its effects were dependent on expression of RNase L and IRF7, proximal and distal pathway members. This is the first report of a viral recognition pathway regulating lactation.

2017-10-18 | GSE69390 | GEO

A mutation in the viral sensor 2’-5’-oligoadenylate synthetase 2 causes failure of lactation. [human]

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Project description:A mutation in the viral sensor 2’-5’-oligoadenylate synthetase 2 causes failure of lactation. [mouse]

| PRJNA285359 | ENA

Homo sapiens

Project description:A mutation in the viral sensor 2’-5’-oligoadenylate synthetase 2 causes failure of lactation. [human]

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A mutation in the viral sensor 2’-5’-oligoadenylate synthetase 2 causes failure of lactation.

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

2017-10-18 | GSE69397 | GEO

A mutation in the viral sensor 2'-5'-oligoadenylate synthetase 2 causes failure of lactation.

Project description:We identified a non-synonymous mutation in Oas2 (I405N), a sensor of viral double-stranded RNA, from an ENU-mutagenesis screen designed to discover new genes involved in mammary development. The mutation caused post-partum failure of lactation in healthy mice with otherwise normally developed mammary glands, characterized by greatly reduced milk protein synthesis coupled with epithelial cell death, inhibition of proliferation and a robust interferon response. Expression of mutant but not wild type Oas2 in cultured HC-11 or T47D mammary cells recapitulated the phenotypic and transcriptional effects observed in the mouse. The mutation activates the OAS2 pathway, demonstrated by a 34-fold increase in RNase L activity, and its effects were dependent on expression of RNase L and IRF7, proximal and distal pathway members. This is the first report of a viral recognition pathway regulating lactation.

| S-EPMC5695588 | biostudies-literature

Heterozygous OAS1 Gain-of-Function Variants Cause a Polymorphic Autoinflammatory and Immunodeficiency Syndrome

Project description:Oligoadenylate synthase 1 (OAS1) is a type-1 interferon-inducible, intracellular double-stranded RNA (dsRNA) sensor that generates 2'-5'-oligoadenylate (2-5A) to activate RNaseL as a means of antiviral defense. We report four de novo heterozygous OAS1 variants in five patients. Variant OAS1 proteins show dsRNA-independent gain-of-function 2-5A synthetase activity that results in RNaseL-mediated RNA-cleavage, transcriptomic downregulation, and functional impairment and/or apoptosis of monocytes, iPSC-derived macrophages, and B-cells. This leads to a polymorphic syndrome of monocyte, macrophage, and B-cell deficiency characterized by autoinflammation, pulmonary alveolar proteinosis, and hypogammaglobulinemia. RNase-L-inhibition in vitro mitigates, and hematopoietic cell transplantation in vivo corrects the autoinflammatory and immunodeficiency phenotype.

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Oligoadenylate synthetase-like (OASL) aggravated newcastle disease virus (NDV)-induced necroptosis in glioma cells

Project description:Oligoadenylate synthetase-like (OASL) aggravated newcastle disease virus (NDV)-induced necroptosis in glioma cells

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Miz1 deficiency in the mammary gland causes a lactation defect by attenuated Stat5 expression and phosphorylation

Project description:Miz1deltaPOZ mothers feature a lactation defect. In order to identify genes potentially regulated by Miz1 which could explain the observed phenotype and to assess the relative expression of milk protein genes and JAK-STAT pathway components, a genome-wide cDNA microarray was performed using samples from control and Miz1deltaPOZ animals obtained at day 6 of lactation (n=4 for each genotype).

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