Of significance, shRNA-mediated depletion of DDX41, or expression of DDX41 variants in DEAD (L237F/P238T) or helicase domain (R525H) found in AML patients in human CD34+ HSPCs led to an increase in R-loops and 53BP1 foci, suggesting that DDX41 mutation may contribute to human disease. The gene discussed is DDX41; the disease is acute myeloid leukemia.