Figure 2

Rescue of CHM patient-derived fibroblasts. (A) Human dermal fibroblasts (HDF) from a CHM patient with the c.126C>G (p.Y42*) mutation were transfected with pS/MAR-CAG-CHM (V2). GFP expression was detected at 48 h post-transfection and was maintained at 120 h post-FACS. (B) Using Western blot, REP1 protein was detected in the transfected CHM patient fibroblasts at 11 days and 35 days post-FACS. REP1 was detected in wild-type control fibroblasts but was almost completely absent in non-transfected CHM fibroblasts. (C) As a measure of prenylation function, an in vitro prenylation assay was performed to detect the size of the unprenylated Rab protein pool in transfected versus non-transfected CHM fibroblasts at 7 days post-transfection. A significant decrease in the presence of unprenylated Rabs was observed in the transfected fibroblasts. * p < 0.05. (ns = non significant).