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FoxP3 scanning mutagenesis reveals functional variegation and mild mutations with atypical autoimmune phenotypes [nanostring]

ABSTRACT: FoxP3 scanning mutagenesis reveals functional variegation and mild mutations with atypical autoimmune phenotypes [nanostring]

PROVIDER: PRJNA412400 | ENA |

REPOSITORIES: ENA

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FoxP3 scanning mutagenesis reveals functional variegation and mild mutations with atypical autoimmune phenotypes

Project description:FoxP3 scanning mutagenesis reveals functional variegation and mild mutations with atypical autoimmune phenotypes

| PRJNA412398 | ENA

FoxP3 scanning mutagenesis reveals functional variegation and mild mutations with atypical autoimmune phenotypes [microarray]

Project description:FoxP3 scanning mutagenesis reveals functional variegation and mild mutations with atypical autoimmune phenotypes [microarray]

| PRJNA412401 | ENA

FoxP3 scanning mutagenesis reveals functional variegation and mild mutations with atypical autoimmune phenotypes [nanostring]

Project description:Nanostring profiles of CD4+ T cells transduced with EV, WT or FoxP3 mutants

2017-09-28 | GSE104344 | GEO

FoxP3 scanning mutagenesis reveals functional variegation and mild mutations with atypical autoimmune phenotypes.

Project description:FoxP3+ regulatory T cells (Tregs) are a central element of immunological tolerance. FoxP3 is the key determining transcription factor of the Treg lineage, interacting with numerous cofactors and transcriptional targets to determine the many facets of Treg function. Its absence leads to devastating lymphoproliferation and autoimmunity in scurfy mutant mice and immunodysregulation polyendocrinopathy enteropathy X-linked (IPEX) patients. To finely map transcriptionally active regions of the protein, with respect to disease-causing variation, we performed a systematic alanine-scan mutagenesis of FoxP3, assessing mutational impacts on DNA binding and transcriptional activation or repression. The mutations affected transcriptional activation and repression in a variegated manner involving multiple regions of the protein and varying between different transcriptional targets of FoxP3. There appeared to be different modalities for target genes related to classic immunosuppressive function vs. those related to atypical or tissue-Treg functions. Relevance to in vivo Treg biology was established by introducing some of the subtle Foxp3 mutations into the mouse germline by CRISPR-based genome editing. The resulting mice showed Treg populations in normal numbers and exhibited no overt autoimmune manifestations. However, Treg functional defects were revealed upon competition or by system stress, manifest as a strikingly heightened susceptibility to provoked colitis, and conversely by greater resistance to tumors. These observations suggest that some of the missense mutations that segregate in human populations, but do not induce IPEX manifestations, may have unappreciated consequences in other diseases.

| S-EPMC5777076 | biostudies-literature

FoxP3 scanning mutagenesis reveals functional variegation and mild mutations with atypical autoimmune phenotypes

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

2017-09-28 | GSE104346 | GEO

FoxP3 scanning mutagenesis reveals functional variegation and mild mutations with atypical autoimmune phenotypes [microarray]

Project description:Microarray profiles of M176, M354 and WT FoxP3 -transdued (in vitro) and -Treg from mice

2017-09-28 | GSE104345 | GEO

Atypical porcine pestivirus

Project description:Atypical porcine pestivirus Genome sequencing

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The ASC-1 complex promotes translation initiation of the scanning ribosomes

Project description:Translation is initiated by binding of the eIF4F complex to the 5' cap of the mRNA, which is followed by scanning of the initiation codon by scanning ribosomes. Here we demonstrate that the ASC-1 complex (ASCC), which was previously shown to promote the dissociation of colliding 80S ribosomes, associates with the scanning ribosomes to regulate translation initiation. Sel-TCP-seq analysis revealed that ASCC3, a subunit of ASCC with a helicase domain, localizes predominantly to the 5' untranslated region of mRNAs. Knockdown of ASCC3 resulted in reduced translation efficiency associated with reduced 43S preinitiation complex (PIC) loading and a reduced speed of scanning ribosomes. In addition, depletion of the ubiquitin ligase ZNF598, a sensor of collided 80S ribosomes, also reduces the PIC loading and speed of scanning ribosomes. Our results have thus revealed that ASCC is required not only for dissociation of colliding 80S ribosomes, but also for efficient translation initiation by scanning ribosomes.

2023-03-31 | GSE186502 | GEO

Ion AmpliSeq transcriptome analysis of atypical hepatocytes

Project description:We compared transcriptome between atypical and non-atypical hepatocytes by RNA-seq

2020-07-03 | GSE153742 | GEO

Muscle - atypical diabetes protein expression

Project description:Skeletal muscle biopsies from atypical diabetics at presentation and remission. Protein expression determined with antibody arrays

2010-06-09 | E-GEOD-634 | biostudies-arrayexpress

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