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Germline ETV6 mutation promotes inflammation and disrupts lymphoid development of early hematopoietic progenitors

ABSTRACT: Germline ETV6 mutation promotes inflammation and disrupts lymphoid development of early hematopoietic progenitors

PROVIDER: PRJNA758993 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR15672700_1.fastq.gz	Fastqsanger.gz
	SRR15672700_2.fastq.gz	Fastqsanger.gz
	SRR15672701_1.fastq.gz	Fastqsanger.gz
	SRR15672701_2.fastq.gz	Fastqsanger.gz
	SRR15672702_1.fastq.gz	Fastqsanger.gz

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Germline ETV6 mutation promotes inflammation and disrupts lymphoid development of early hematopoietic progenitors

Project description:Germline mutations in ETV6 are associated with a syndrome of thrombocytopenia and leukemia predisposition, and ETV6 is among the most commonly mutated genes in leukemias, especially childhood B cell acute lymphoblastic leukemia. However, the mechanisms underlying disease due to ETV6 dysfunction are poorly understood. In order to address these gaps in knowledge, using CRISPR/Cas9, we developed a mouse model of the most common recurrent, disease-causing germline mutation in ETV6, which recapitulates aspects of human disease. We found defects in hematopoiesis, primarily related to abnormalities of the multipotent progenitor population 4 (MPP4) subset of hematopoietic progenitor cells and evidence of sterile inflammation. Expression of ETV6 in Ba/F3 cells altered the expression of several cytokines, some of which were also detected at higher levels in the bone marrow of the mice with Etv6 mutation. Among these, IL-18 and IL-13 abrogated B cell development of sorted MPP4 cells, but not common lymphoid progenitors, suggesting that inflammation contributes to abnormal hematopoiesis by impairing lymphoid development. These data, along with that from humans, support a model in which ETV6 dysfunction promotes inflammation, which adversely affects thrombopoiesis and promotes leukemogenesis.

2022-06-30 | GSE183064 | GEO

Germline ETV6 mutation promotes inflammation and disrupts lymphoid development of early hematopoietic progenitors.

Project description: Not available

| S-EPMC9885892 | biostudies-literature

A germline ETV6 mutation disrupts hematopoiesis via de novo creation of a nuclear export signal

Project description:Germline mutations in the transcriptional regulator ETV6 are a root cause of familial inherited thrombocytopenia and predispose carriers to myelodysplastic syndromes and acute leukemias. Here, we report that the ETV6 P214L mutation creates an XPO1-dependent nuclear export signal to cause protein mislocalization. Strategies to disrupt XPO1 nuclear export activity fully restore ETV6 P214L protein nuclear localization and transcription regulation activity, establishing XPO1-dependent mislocalization as a critical mechanism underscoring ETV6 P214L dysfunction. Mechanistic insight inspired the design of ‘humanized’ ETV6 mice in which the germline P214L mutation is sufficient to elicit severe defects in thrombopoiesis and hematopoietic stem cell maintenance and survival in animals. These studies define a unique mechanism by which the ETV6 P214L mutation exerts a dominant negative effect on protein function and reveal critical mutation-dependent disruptions to hematopoiesis that underlie disease phenotypes.

2025-04-11 | GSE288171 | GEO

A germline ETV6 mutation disrupts hematopoiesis via de novo creation of a nuclear export signal

2025-04-23 | GSE287784 | GEO

A germline ETV6 mutation disrupts hematopoiesis via de novo creation of a nuclear export signal

Project description:A germline ETV6 mutation disrupts hematopoiesis via de novo creation of a nuclear export signal

| PRJNA1214692 | ENA

A germline ETV6 mutation disrupts hematopoiesis via de novo creation of a nuclear export signal

Project description:A germline ETV6 mutation disrupts hematopoiesis via de novo creation of a nuclear export signal

| PRJNA1216382 | ENA

RNA-seq of mouse common lymphoid progenitors, innate lymphoid cell progenitors and NK cell progenitors

Project description:RNA-seq of mouse common lymphoid progenitors, innate lymphoid cell progenitors and NK cell progenitors

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RNA-seq of mouse common lymphoid progenitors, innate lymphoid cell progenitors and NK cell progenitors

Project description:Natural Killer (NK) cells at different developmental stages (common lymphoid progenitor (CLP), innate lymphoid cell progenitors (ILCP), and refined NK progenitor (NKP)) were collected from Vav1+iCre FOXO1,3flox/flox mice (C57BL/6 background). Total RNA was harvested and sequenced with a strand-specific paired-end RNA-seq protocol.

2022-02-06 | E-MTAB-9560 | biostudies-arrayexpress

Identification of ETV6 bound protein by affinity purification of ETV6-HA fusion protein in REH cells

Project description:To determine the protein partners of ETV6, we expressed ETV6 and HA-tagged ETV6 in Reh pre-B leukemic cells. Anti-HA magnetic beads were used for affinity purification of ETV6-HA (and ETV6 control) from the nuclear and cytoplasmic fraction. Following purification on-beads digest and LC-MS/MS experiments were performed at the Proteomics platform of the CHU de Quebec Research Center, Quebec, Canada.

2022-01-26 | PXD031001 | Pride

RNA sequencing of ETV6-NCOA2 expression in CD34 positive cord blood cells

Project description:Mixed-phenotype acute leukemia is a rare subtype of leukemia in which both myeloid and lymphoid markers are co-expressed on the same malignant cells. Their pathogenesis is largely unknown, and their treatment is challenging. We have previously discovered the specific association between recurrent t(8;12)(q13;p13) chromosomal translocation, creating ETV6-NCOA2 fusion, with T/Myeloid leukemias. Here we report that the ETV6-NCOA2 initiates T/Myeloid leukemia in preclinical models and examine the expression profile induced by ETV6-NCOA2 in CD34+ cord blood progenitors in-vitro.

2022-05-16 | GSE162230 | GEO

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