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Effects of USB1 mutation on global miRNome during hESC-derived definitive hematopoiesis

ABSTRACT: USB1 mutations lead to poikiloderma with neutropenia. We investigated the effect of inactivating USB1 on the global miRome in undifferentiated and differentiated hematopoietic stem cells

ORGANISM(S): Homo sapiens

PROVIDER: GSE224431 | GEO | 2023/02/07

REPOSITORIES: GEO

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Effect of USB1 mutation on global transcriptome during hESC-derived definitive hematopoiesis

Project description:USB1 mutations lead to poikiloderma with neutropenia. We investigated the effect of inactivating USB1 on the global transcriptome in undifferentiated hESCs and differentiated hematopoietic progeny

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Effects of USB1 knockout on global miRNome in K562 cells

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Project description:Effects of USB1 mutation on global miRNome during hESC-derived definitive hematopoiesis

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Mutation of kri1l causes definitive hematopoiesis failure via PERK-dependent excessive autophagy induction.

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Effect of USB1 mutation on global transcriptome during hESC-derived definitive hematopoiesis

Project description:Effect of USB1 mutation on global transcriptome during hESC-derived definitive hematopoiesis

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A germline point mutation in Runx1 uncouples its role in definitive hematopoiesis from differentiation.

Project description:Definitive hematopoiesis requires the master hematopoietic transcription factor Runx1, which is a frequent target of leukemia-related chromosomal translocations. Several of the translocation-generated fusion proteins retain the DNA binding activity of Runx1, but lose subnuclear targeting and associated transactivation potential. Complete loss of these functions in vivo resembles Runx1 ablation, which causes embryonic lethality. We developed a knock-in mouse that expresses full-length Runx1 with a mutation in the subnuclear targeting cofactor interaction domain, Runx1(HTY350-352AAA). Mutant mice survive to adulthood, and hematopoietic stem cell emergence appears to be unaltered. However, defects are observed in multiple differentiated hematopoietic lineages at stages where Runx1 is known to play key roles. Thus, a germline mutation in Runx1 reveals uncoupling of its functions during developmental hematopoiesis from subsequent differentiation across multiple hematopoietic lineages in the adult. These findings indicate that subnuclear targeting and cofactor interactions with Runx1 are important in many compartments throughout hematopoietic differentiation.

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