Panel A: A schematic diagram showing the experimental workflow. Skin fibroblasts with P S M B 10 W T and G 209 R mutations are treated with I F N for 24 hours. R N A is extracted for transcriptome analysis, followed by bioinformatic analysis. Panel B: A Venn diagram comparing significantly regulated genes in P S M B 10 W T and P S M B 10 G 209 R samples after I F N treatment. The diagram shows 1691 common genes, 1868 unique to P S M B 10 W T, and 4233 unique to P S M B 10 G 209 R. Panel C: A dot plot showing pathway analysis for 54 differentially expressed genes (D E G s) in I F N-stimulated P S M B 10 W T cells. The x-axis represents the enrichment score, and the y-axis lists pathways such as Epstein-Barr virus infection and cytokine-cytokine receptor interaction. Dot size indicates gene count, and color represents p-value. Panel D: A dot plot showing pathway analysis for 112 D E G s in I F N-stimulated P S M B 10 G 209 R cells. The x-axis represents the enrichment score, and the y-axis lists pathways such as carbohydrate digestion and inflammatory bowel disease. Dot size indicates gene count, and color represents p-value. Panel E: A heatmap displaying the expression of 54 genes with log 2 greater than 2 specific to P S M B 10 W T. Genes related to viral sensing and M H C class I antigen presentation are highlighted with arrows. The heatmap uses a color scale where red indicates higher expression and blue indicates lower expression.
Impaired viral sensing and antigen presentation in IFN-treated PSMB10 Gly209Arg skin fibroblasts. (A) Comparative transcriptomic analysis of PSMB10 G209R and age-matched PSMB10 WT primary skin fibroblasts following treatment with 75 U/ml IFNγ for 24 h. Biological replicates were performed using passages 5–11 (n = 5, scheme generated using BioRender). Affymetrix array analysis was performed, and one-way ANOVA was used to identify significantly regulated genes (P <0.05). (B) Venn diagram illustrating all significantly regulated genes in PSMB10 WT and PSMB10 G209R samples upon treatment with IFNγ. (C and D) Pathway analysis for (C) 54 DEGs of IFNγ-stimulated PSMB10 WT and (D) 112 DEGs of IFNγ-stimulated PSMB10 G209R cells (|log2|>2, one-way ANOVA). (E) Heatmap of 54 genes with |log2| >2 specific to PSMB10 WT. Genes related to viral sensing and MHC class I antigen presentation are highlighted with an arrow.