(A, C) Analysis of HLA-B reporter activity in human fibroblast cell lines derived from BLS patients. ABI (RFXAP deficient) or OSE (RFX5 deficient) fibroblasts were used in (A) and (C), respectively. The indicated expression plasmids were co-transfected with the HLA-B promoter reporter gene construct, and luciferase activity was measured 48 hrs post transfection using the dual-luciferase assay. The data was plotted as fold induction relative to the empty vector control as the mean of triplicates from one representative experiment out of several independent experiments. Error bars are given as ±SD. *p < 0.05; **p < 0.01. (B, D) Cell extracts of the indicated BLS patient cell line, transiently transfected with the specified expression plasmids, were examined for MHC class I and β2M protein expression by immunoblotting 48 hrs post transfection. Signal intensities were quantified using ImageQuant. Expression levels of α-Tubulin levels are presented as a loading control.