Article
Synergistic intragenic epigenetic deregulation by IDH2 and SRSF2 mutations causes mis-splicing of key transcriptional regulators.
Science advances - 2 Jan 2026
Telonis Aristeidis G, Stanley Robert F, Adelman Emmalee R, Yoshimi Akihide, Adele Adedamola A, Cruz Angelique, Wiseman Daniel H, Abdel-Wahab Omar, Figueroa Maria E
Abstract excerpt
Genes affecting DNA methylation (DNAme) are frequently comutated with splicing factors in acute myeloid leukemia (AML) and associate with more aggressive phenotypes. To elucidate the underlying molecular mechanisms, we deeply profiled wild-type and IDH2R140Q/SRSF2P95 single- or double-mutant AMLs. We find a unique set of mis-spliced genes and differentially methylated CpGs in double mutants. Mis-spliced exons are...
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