Fig. 3: Functional impacts of ASXL1 mutations on epigenetic regulation. | Leukemia

Fig. 3: Functional impacts of ASXL1 mutations on epigenetic regulation.

From: The role of ASXL1, SRSF2, and EZH2 mutations in chromatin dysregulation of myelodysplastic neoplasia and acute myeloid leukemia

Fig. 3: Functional impacts of ASXL1 mutations on epigenetic regulation.

a H3K27 methylation: Wild-type ASXL1 regulates H3K27me3 through PRC2-EZH2. Mutant ASXL1 reduces H3K27me3, activating HOXA genes. b Interaction with BRD4: While WT ASXL1 does not interact with BRD4, MT ASXL1 does interact with BRD4, increasing acetylation on H3K27/122, which is associated with expression of leukemogenic genes (e.g. PRDM16, FOS). c Paraspeckles and HSPC repopulation: Mutation of ASXL1 disrupts paraspeckles, decreasing HSPC repopulation. d De-ubiquitination: Wild-type ASXL1-BAP1 removes ubiquitin from H2AK119. Mutant ASXL1 enhances this process through a gain of function.

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