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. 2020 May 20;34(8):1984–1999. doi: 10.1038/s41375-020-0854-5

Table 2.

List of Hsa21 genes that have a potential role in DS-leukemia.

Hsa21 genes Known function in hematopoiesis/leukemogenesis Reference
ERG Promotes megakaryoblastic expansion and cooperates with GATA1s in AMKL [85, 98101]
ETS2 Cooperates with GATA1s to enhance early hematopoiesis and expansion of fetal megakaryocytic progenitors [85, 100]
RUNX1 Cooperates with ERG, ETS2 and GATA1s to enhance early hematopoiesis [85]
DYRK1A Promotes TMD/DS–AMKL development in human and murine models; Cooperates with GATA1s to increase megakaryocytic expansion; Controls CFU-preB colony formation and B-cell differentiation [63, 109]
RCAN1 Promotes megakaryopoiesis, Inhibits NFAT pathway [107]
HMGN1 Increases H3K27ac, associated with upregulation of B-cell specific transcriptional signatures [74, 116]
CHAF1B Interferes with myeloid transcription factor CEBPA and maintains undifferentiated state of leukemic cells [117]
miR-125b-2 Enhances proliferation and self-renewal of megakaryocytic progenitors, Cooperates with GATA1s [118]
IFN-genes: IFNAR1, IFNAR2, IFNGR2 and IL10RB Over-activated in DS blood cells and in fetal hematopoietic progenitors [81, 110112]