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Phf6 mutation induces leukemogenesis through altered chromatin state in mice (RNA-Seq)

ABSTRACT: To investigate the effect of PHF6 mutations in leukemogenesis, we generated Phf6R274X transgenetic(Tg) and Phf6 KO mice. Then we purified the Lineage-cKit+Sca-1+ cells from bone marrow of Phf6R274XTg, Phf6 KO and WT mice, and performed bulk RNA-seq to profile the transcriptom.

ORGANISM(S): Mus musculus

PROVIDER: GSE198499 | GEO | 2026/06/01

REPOSITORIES: GEO

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Phf6 mutation induces leukemogenesis through altered chromatin state in mice (scRNA-Seq)

Project description:To investigate the effect of PHF6 mutations in leukemogenesis, we generated Phf6R274X transgenetic(Tg) mice. Then we purified the Lineage-cKit+ cells from bone marrow of Phf6R274XTg and WT mice, and performed single cell RNA-seq to study hematopoietic stem cell differentiation trajectory.

2026-06-01 | GSE198501 | GEO

Phf6 mutation induces leukemogenesis through altered chromatin state in mice (ChIP-Seq)

Project description:To investigate the effect of PHF6 mutations in leukemogenesis, we generated Phf6R274X transgenetic(Tg) mice. Then we purified the cKit+ cells from bone marrow of Phf6R274XTg and WT mice, and performed ChIP-seq to study histone modification in hematopoietic stem and progenitor cells.

2026-06-01 | GSE198500 | GEO

RNA-seq profiling of HSC, MPPs and HPC-1s from Phf6-deleted and Phf6-intact mice

Project description:The study profiled the effect of Phf6 deletion on gene expression in hematopoietic stem cells (HSCs), multipotent progenitor cells (MPPs) and hematopoietic progenitor cells (HPC-1). Phf6lox/Y;Tie2-creTg/+ mice were prepared on a C57BL/6 background so that Phf6 deletion could be selectively mediated by Tie2-cre. Cell populations were sorted from bone marrow samples using standard surface markers (Lin–SCA1+cKIT+(LSK) CD150+ CD48– for HSCs, Lin–SCA1+cKIT+(LSK) CD150– CD48– for MPPs and Lin–SCA1+cKIT+(LSK) CD150- CD48+ for HPC-1 cells). Phf6 intact and Phf6-delected cells of all three types were profiled by paired-end RNA-seq using an Illumina NextSeq 500 sequencer. RNA-seq libraries were prepared from the HPC-1 samples used a standard Illumina TruSeq library protocol whereas the libraries for the HSC and MPP samples used a SMART-seq ultra low input kit for cDNA synthesis and amplification. Statistical analysis of the TruSeq and SMART-seq samples was undertaken separately.

2019-02-20 | GSE126316 | GEO

Phf6-null hematopoietic stem cells have enhanced self-renewal capacity and oncogenic potentials

Project description:Plant homeodomain finger gene 6 (PHF6) encodes a 365-amino-acid protein containing two plant homology domain fingers. Germline mutations of human PHF6 cause Börjeson–Forssman–Lehmann syndrome, a congenital neurodevelopmental disorder. Loss-of-function mutations of PHF6 are detected in patients with acute leukemia, mainly of T cell lineage and in a small proportion of myeloid lineage. The functions of PHF6 in physiological hematopoiesis and leukemogenesis remain incompletely defined. To address this question, we generated a conditional Phf6 knockout mouse model and investigated the impact of Phf6 loss on the hematopoietic system. We found that Phf6 knockout mice at 8-week age had reduced numbers of CD4+ and CD8+ T cells in the peripheral blood compared to the wild-type littermates. There were decreased granulocyte-monocytic progenitors but increased Lin-c-Kit+Sca-1+ (LSK) cells in the marrow of young Phf6 knockout mice. Functional studies including competitive repopulation unit and serial transplantation assays revealed an enhanced reconstitution and self-renewal capacity in Phf6 knockout hematopoietic stem cells (HSCs). Aged Phf6 knockout mice had myelodysplasia-like presentations including decreased platelet counts, megakaryocyte dysplasia, and enlarged spleen related to extramedullary hematopoiesis. Moreover, we found that Phf6 loss lowered the threshold of NOTCH1-induced leukemic transformation at least partially through increased leukemia-initiating cells. Transcriptome analysis on the restrictive rare HSC subpopulations revealed upregulated cell cycling and oncogenic functions, with alteration of expression of key genes in those pathways. In summary, our studies demonstrate the in vivo crucial roles of Phf6 in physiological and malignant hematopoiesis.

2019-08-21 | GSE129465 | GEO

Synergism 1 between RUNX1 and PHF6 mutations in leukemogenesis [scRNAseq]

Project description:Synergism 1 between RUNX1 and PHF6 mutations in leukemogenesis [scRNAseq]

| PRJNA1152906 | ENA

Expression profiling of Abelson interactor-1 (Abi-1) deficient hematopoietic progenitor cells.

Project description:Gene expression profile of LSK-enriched population of hematopoietic progenitor cells from Abi-1 KO mice indicates activation of the NFκB pathway. In this dataset, we include the expression data obtained from Lineage-, Sca-1+, cKit+ (LSK)-enriched population of hematopoietic progenitor cells isolated from the bone marow of Abi-1 KO and WT animals. Abi1(fl/fl);Tg (Mx1- cre(-)) or Abi1(fl/fl);Tg (Mx1-cre(+)) mice were subjected to polyinosinic:polycytidylic acid [poly(I:C)]-induced activation of the Cre recombinase under control of the Mx1 promoter to obtain animals with an Abi1(fl/fl);Tg (Mx1-cre(-)) (Abi-1 WT) or Abi1(-/-);Tg (Mx1-cre(+)) (Abi-1 KO) genotype.

2016-06-14 | GSE83288 | GEO

Transcriptome changes caused by PHF6 knockout in THP1 human AML cell line

Project description:CRISPR Cas9 guided knockout (KO) of PHF6 in human THP1 AML cell line. We performed bulk RNA-Seq on knockout (PHF6 KO) and wildtype (CTRL) clones derived from THP1 cells transduced with lentiviral vectors encoding Cas9 protein and either PHF6 gRNAs or non-targeting gRNAs. Our results reveal that PHF6 knockout upregulates self-renewal gene sets and downregulates myeloid differentiation gene sets.

2024-09-18 | GSE277149 | GEO

Synergism 1 between RUNX1 and PHF6 mutations in leukemogenesis [scRNAseq]

Project description:RUNX family transcription factor 1 (RUNX1) mutated acute myeloid leukemia (AML) has now been formally classified as AML with myelodysplasia-related gene mutations, and considered to predict adverse prognosis. In addition, mutations of RUNX1 and plant homeodomain finger gene 6 (PHF6) frequently co-occurred and conferred particularly adverse clinical outcomes. Becasue the pathological effects of these combined mutations remained understudied, we sought to address this topic through genetically modified mouse models. We found that Phf6 knockout and RUNX1 double-mutated bone marrow (BM) cells displayed significantly higher engraftment capacity, and recipient mice transplanted with double-mutated BM cells developed AML with significantly shortened survival. We also discovered that the multipotent progenitors (MPPs) were the main cell subpopulation responsible for double-mutated BM cell-induced leukemia. Our findings highlighted the synergistic leukemogenic potential of Phf6 and RUNX1 mutations in vivo, and provided evidence for possible underlying molecular mechanisms.

2025-08-06 | GSE275754 | GEO

Gene regulation of PHF6 in mouse developing cortex

Project description:we performed RNAseq between WT/KO and WT/C99F to understand the function of PHF6 in gene regulation

2018-10-30 | GSE119973 | GEO

PHF6 and JAK3 mutations cooperate to drive T-cell acute lymphoblastic leukemia progression

Project description:Purpose: For RNA-Seq analysis of isogenic Phf6 WT and KO mouse T-ALL cells Methods: Phf6 WT and KO mouse T-ALL cells were analyzed by deep sequencing, in triplicate, using Illumina GAIIx. The sequence reads that passed quality filters were analyzed at the transcript isoform level with two methods: Burrows–Wheeler Aligner (BWA) followed by ANOVA (ANOVA) and TopHat followed by Cufflinks. qRT–PCR validation was performed using TaqMan and SYBR Green assays Results: Results: Using an optimized data analysis workflow, we identified 2377 genes up-regulated and 3751 genes down-regulated （P < 0.05） in the BM cells from Phf6 WT and KO mice. Altered expression of 16 genes was confirmed with qRT–PCR, demonstrating the high degree of sensitivity of the RNA-seq method. Hierarchical clustering of differentially expressed genes may contribute to analyze PHF6 function. Conclusions: Our study represents the first detailed analysis of T-ALL cell transcriptomes with PHF6 deficiency and JAK3 mutation. Our results suggested that Phf6 loss promoted JAK3M511I induced T-ALL progression by accelerating cell cycle and impairing T cell differentiation.

2022-02-09 | GSE159444 | GEO

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