Panel A shows two immunoblots. The top blot displays STAT2 protein levels at 113 kilodaltons, and the bottom blot shows beta-actin protein levels at 42 kilodaltons as a loading control. The samples are from P3 and healthy control. Panel B is a scatter plot showing STAT2 messenger RNA expression levels. The y-axis represents STAT2 messenger RNA expression, and the x-axis includes categories for healthy control, Carrier, and P1 and P2. Each dot represents the mean value of three independent experiments for a single individual. Panel C is a table summarizing the influence of various genetic variants on splicing, with percentages and descriptions of splicing effects. Panel D shows an immunoblot of STAT2 protein levels in HEK293T cells expressing different STAT2 variants. The blot includes lanes for NT, EV, wild type, R510X, K490Qfs 41, INSin9, INSin8, and DELex9, with protein bands at various molecular weights expressed in kilodaltons.
Impact of the variants on STAT2 mRNA and protein expression. (A) Immunoblot of STAT2 in PBMCs of P3 (N = 1). (B)STAT2 mRNA expression of primary fibroblasts of P1 and P2 as well as a related carrier and three unrelated healthy controls (HC). Each dot represents the mean value of three independent experiments for a single individual. (C) pJet cloning results of 182 analyzed clones of genetic material of P3. (D) Immunoblot of STAT2 in HEK293T cells expressing the different STAT2 variants. NT (non-transfected), EV (empty vector), WT (wild-type), R510X (positive control), K490Qfs*41 (variant in P1 and P2), and P3’s splice variants: INSin9, INSin8, and DELex9. A representative blot from three experiments is shown. Source data are available for this figure: SourceData F2.