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Inherited blood cancer predisposition through altered transcription elongation [single-cell RNA-seq]

ABSTRACT: Inherited blood cancer predisposition through altered transcription elongation [single-cell RNA-seq]

PROVIDER: PRJNA774657 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR16575022_1.fastq.gz	Fastqsanger.gz
	SRR16575022_2.fastq.gz	Fastqsanger.gz
	SRR16575023_1.fastq.gz	Fastqsanger.gz
	SRR16575023_2.fastq.gz	Fastqsanger.gz
	SRR16575024_1.fastq.gz	Fastqsanger.gz

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Inherited blood cancer predisposition through altered transcription elongation

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Inherited blood cancer predisposition through altered transcription elongation [ChIP-seq]

Project description:We identified CTR9 mutants as rare heritible contributing factors to several blood cancers. We later identified partial loss of CTR9 is capable of driving key hematopoietic maintenance and self-renewal gene expression through altered transcription elongation.

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Inherited blood cancer predisposition through altered transcription elongation.

Project description:Despite advances in defining diverse somatic mutations that cause myeloid malignancies, a significant heritable component for these cancers remains largely unexplained. Here, we perform rare variant association studies in a large population cohort to identify inherited predisposition genes for these blood cancers. CTR9, which encodes a key component of the PAF1 transcription elongation complex, is among the significant genes identified. The risk variants found in the cases cause loss of function and result in a ∼10-fold increased odds of acquiring a myeloid malignancy. Partial CTR9 loss of function expands human hematopoietic stem cells (HSCs) by increased super elongation complex-mediated transcriptional activity, which thereby increases the expression of key regulators of HSC self-renewal. By following up on insights from a human genetic study examining inherited predisposition to the myeloid malignancies, we define a previously unknown antagonistic interaction between the PAF1 and super elongation complexes. These insights could enable targeted approaches for blood cancer prevention.

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Inherited blood cancer predisposition through altered transcription elongation

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

2024-01-13 | GSE186591 | GEO

Inherited Genetic Variation and Predisposition to Testicular Germ Cell Tumor

Project description:Inherited Genetic Variation and Predisposition to Testicular Germ Cell Tumor

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An inherited predisposition allele promotes gastric cancer via enhancing deubiquitination-mediated activation of epithelial-to-mesenchymal transition signaling

Project description:Genome-wide human genetic studies have identified inherited cis-regulatory loci variants that predispose to cancers. However, the mechanisms by which these germline variants influence cancer progression, particularly through gene expression and proteostasis control, remain unclear. By analyzing genomic data from a gastric cancer (GC) case-control study (2,117 individuals), focusing on the ubiquitin-specific protease (USP) family, we identify the single nucleotide polymorphism (SNP) rs72856331 (G>A) in the promoter region of the proto-oncogene USP47 as a susceptibility allele for GC (OR = 0.78, P = 0.015). Mechanistically, the risk allele G is associated with enhanced USP47 expression, mediated by altered recruitment of the transcription factor GLI3 and changes in the epigenetic status at promoter. CRISPR/Cas9-mediated single-nucleotide conversion into risk allele G results in increased GLI3 binding and subsequent USP47 upregulation. The depletion of GLI3 results in a reduction of cancer-related phenotypes, similar to those observed following USP47 knockdown. Furthermore, we identify Snai1 as a deubiquitination target of USP47, explaining USP47-dependent activation of epithelial-mesenchymal transition pathway and tumor progression. Our findings identify a pivotal genetic predisposition that implicates the perturbation of transcription and proteostasis programs in GC, offering insights for novel prevention and therapeutic avenues for genetically stratified patients.

2025-03-18 | GSE286484 | GEO

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