Fig. 5 | Scientific Reports

Fig. 5

From: Genotype-integrated single-cell transcriptome analysis reveals the role of DDX41 pR525H in a patient with myelodysplastic neoplasms

Fig. 5

Impaired erythroid differentiation by the acquisition of p.R525H. (a,b) Pathway enrichment analysis. (a) CFU-E cluster 1 (vs. cluster 2) pathway. (b) Pro-erythroblast cluster 0 (vs. cluster 1) pathway. Differentially expressed genes (padj < 0.05) were identified via Seurat’s ‘FindMarkers’ function and analyzed in Metascape (https://metascape.org). (c) Proportion of R525H cells relative to GL cells in erythroid progenitors, visualized as a 100% stacked bar chart for each cell type. (d) Enrichment of R-loop-interacting factors29,30 in R525H and GL cells. GSEA used curated factors in GMT format, with positive and negative enrichments in R525H cells shown in red and blue, respectively. Circle size represents NES, and color intensity indicates padj. (e) Cell cycle status estimates in erythroid progenitor. Seurat’s ‘CellCycleScoring’ function assessed phase distribution (G1, S, G2/M), presented as a 100% per-phase bar.

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