Fig. 3

Distinct transcriptional regulations of CD34-positive HSPCs between MDS case and healthy donors. (a) Bubble plot of GSEA results for each cell type with ≥ 100 cells in both normal and MDS HSPCs. Pathways classified under Gene Ontology Biological Processes (GOBP) categories with adjusted p-values (padj) < 0.01 are displayed. Positively enriched pathways in MDS HSPCs are shown in red, while negatively enriched pathways are in blue. Circle size corresponds to the Nominal Enrichment Score (NES), and color intensity reflects statistical significance (padj). (b) Cell state transitions inferred by scVelo. Differentiation trajectories based on RNA velocity (unspliced/spliced transcripts) are visualized as arrows overlaid on the UMAP, highlighting HSC (blue) and early GMP (red). (c) Heatmap of transcriptional regulation by cell type, depicting average area under the curve (AUC) scores for transcription factors calculated per cell. Only cell types with > 100 cells in both normal and MDS HSPCs are included. The MDS heatmap is aligned with the healthy donor heatmap. (d) UMAP plot visualizing transcriptional regulation at the single-cell level through AUC scores. (e) UMAP plot illustrating transcription factor expression at the single-cell level. Numbers beside gene names indicate the count of target genes regulated by each transcription factor.