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Impact of heterozygous SRI mutation (R2483H) of Setd2 (Setd2SRI/wt)

ABSTRACT: Impact of heterozygous SRI mutation (R2483H) of Setd2 (Setd2SRI/wt)

PROVIDER: PRJNA723806 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR14300076_1.fastq.gz	Fastqsanger.gz
	SRR14300076_2.fastq.gz	Fastqsanger.gz
	SRR14300077_1.fastq.gz	Fastqsanger.gz
	SRR14300077_2.fastq.gz	Fastqsanger.gz
	SRR14300078_1.fastq.gz	Fastqsanger.gz

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Impact of heterozygous SRI mutation (R2483H) of Setd2 (Setd2SRI/wt) on gene expression in the brains of mouse neonates

Project description:Impact of heterozygous SRI mutation (R2483H) of Setd2 (Setd2SRI/wt) on gene expression in the brains of mouse neonates

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Impact of heterozygous SRI mutation (R2483H) of Setd2 (Setd2SRI/wt) on H3K36me3 patterns in the brains of mouse neonates

Project description:Impact of heterozygous SRI mutation (R2483H) of Setd2 (Setd2SRI/wt) on H3K36me3 patterns in the brains of mouse neonates

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Impact of heterozygous SRI mutation (R2483H) of Setd2 (Setd2SRI/wt)

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

2021-09-08 | GSE173093 | GEO

Impact of heterozygous SRI mutation (R2483H) of Setd2 (Setd2SRI/wt) on H3K36me3 patterns in the brains of mouse neonates

Project description:We report that only a limited genes have differential H3K36me3 marks in the brains of heterozygous Setd2SRI/wt mice compared to those of wild type mice at P0.

2021-09-08 | GSE173092 | GEO

Impact of heterozygous SRI mutation (R2483H) of Setd2 (Setd2SRI/wt) on gene expression in the brains of mouse neonates

Project description:We report that only a limited number of genes are differentially expressed in the brains of heterozygous Setd2SRI/wt mice compared to those of wild type mice at P0.

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The application of ChIP-seq to study the impact of the CXCdel mutation and SETD2 inhibition on H3K27me3 spreading.

Project description:We conducted quantitative ChIP-seq to study the impact of the CXCdel mutation and SETD2 inhibition on H3K27me3 spreading. In addition, we performed standard ChIP-seq for EZH2 in wt and CXCdel Karpas-422 and K562 cell lines.

2023-02-08 | GSE199809 | GEO

SETD2 haploinsufficiency enhances germinal center-associated AICDA somatic hypermutation to drive B-cell lymphomagenesis

Project description:SETD2 is the sole chromatin modifier responsible for H3K36me3, a histone mark linked to splicing, transcription initiation and DNA damage response. Homozygous disruption of SETD2 yields a tumor suppressor effect in various cancers. However, SETD2 mutation is virtually always heterozygous in diffuse large B-cell lymphomas (DLBCL). Here we show that heterozygous SETD2 deficiency results in germinal center (GC) hyperplasia and accelerated lymphomagenesis. SETD2 haploinsufficient GC B-cells exhibit increased competitive fitness and reduced DNA damage checkpoint activity, resulting in decreased apoptosis. SETD2 haploinsufficient GCB and lymphoma cells featured increased off- and on-target AICDA induced somatic hypermutation (SHM), complex structural variants such as rygma, and increased translocations including those activating MYC. DNA damage was selectively increased on the non-template strand and H3K36me3 loss was associated with greater RNA Pol II processivity and mutational burden, suggesting that SETD2-mediated H3K36me3 is required for proper sensing of cytosine deamination during transcription. Hence, SETD2 haploinsufficiency delineates a novel GC B-cell context specific oncogenic pathway involving defective epigenetic surveillance of AICDA mediated somatic hypermutation induced off target effects on transcribed genes.

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miRNA expression in healthy carriers of heterozygous BRCA1 mutation and healthy WT controls

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miRNA expression in healthy carriers of heterozygous BRCA1 mutation and healthy WT controls

Project description:In order to investigate whether carriers of BRCA1 heterozygous mutation show altered miRNA expression profiles, we established a panel of lymphoblastoid cell lines (LCLs) harboring either mutated or WT BRCA1 (control) and investigated their miRNA expression profiles. We were especially interested whether we find differences in miRNA expression between carriers of missense versus truncating mutation in BRCA1 gene. We evaluated the miRNA expression in a panel of 21 non-treated lymphoblastoid cell lines (LCLs). Among them, 6 LCLs with WT BRCA1, 5 LCLs carrying missense mutation in BRCA1, and 10 LCLs harboring truncating mutation in BRCA1 were included in this study.

2015-12-31 | E-GEOD-60444 | biostudies-arrayexpress

Effect of BRCA1 heterozygous mutation on gene expression

Project description:In order to investigate whether carriers of BRCA1 heterozygous mutation show altered gene expression profiles, we used a whole genome microarray expression profiling of a panel of lymphoblastoid cell lines (LCLs) harboring either mutated or WT BRCA1 (control). We were especially interested whether we find differences in gene expression between carriers of missense versus truncating mutation in BRCA1 gene.

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