These mutations mainly interrupt the catalytic domain of DNMT3A and lead to hypomethylation of normally overexpressed hematopoietic stem cell-specific genes (such as RUNX1, ERG, MYC, and SMAD3) in AML, thereby interfering with the normal differentiation of hematopoietic stem cells. This evidence concerns the gene DNMT3A and acute myeloid leukemia.