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. 2020 Feb;10(2):a034876. doi: 10.1101/cshperspect.a034876

Figure 3.

Figure 3.

Overview of classes of genes found mutated in myeloproliferative neoplasms (MPNs). This includes (1) DNA methylation (TET2, IDH1, IDH2, and DNMT3A), (2) chromatin modification (ASXL1 and EZH2), (3) RNA splicing (SRSF2, U2AF1, SF3B1, and ZRSR2), (4) JAK-STAT and RAS signaling pathways (JAK2, CALR, MPL, LNK/SH2B3, CBL, NRAS, KRAS, and PTPN1), (5) transcription factors (RUNX1 and NFE2), and (6) DNA damage response/stress signaling (TP53 and PPM1D). Wild-type proteins are depicted in green and mutated (mut) proteins are depicted in orange. For illustration, all genes/proteins described in this review are depicted, although some mutations may actually lead to loss of protein expression. (Refer to the main text for detailed explanations of the depicted processes.) αKG, α-ketoglutarate; GDP, guanosine diphosphate; GTP, guanosine triphosphate; 2HG, 2-hydroxyglutarate; hMe, hydroxymethyl; ISO, isocitrate; Me, methyl; P, phosphorylation; PIP2, phosphatidylinositol(4,5)-biphospate; PIP3, phosphatidylinositol(3,4,5)-triphosphate; RNApol, RNA polymerase.