Fig. 6

Fig. 6 Conserved properties in DDX41 low and mutated human cells (A) Graph depicting bone marrow blast percentages of MDS patients with high (top 20%) or low (bottom 20%) DDX41 expression. (B) Kaplan-Meier survival curve comparing MDS patients with high or low DDX41 expression. (C) Representative charts of REACTOME pathways significantly enriched in DDX41 low patients’ CD34+ HSPCs compared with DDX41 high patients’ CD34+ HSPCs. (D) Venn diagram showing overlap between genes that were highly expressed in DDX41 low MDS samples and within the “Innate immune system” pathway and assessed for how their expression correlated with blast counts in the cohort of 183 MDS patients in (E). (E) Heatmap correlating clinical hematological variables with the genes in the REACTOME “innate immune signature” pathway from DDX41 low patients’ CD34+ HSPCs (D). Each cell represents the correlation between the 183 values of the clinical variable (column), and the 183 values of the gene probe (row) matched by patient. (F) Confocal images showing immunofluorescence of R-loops and nuclei (DAPI) in HEK-293 cells that are overexpressing DDX41 wildtype (left) or a DDX41 R525H mutant (right). Scale bar, 10 μm. (G) Quantification of R-loop levels from (F). Graphs display means ± stds with p values calculated with unpaired Student’s t test, ∗p < 0.05, ∗∗∗∗p < 0.0001.