Figure 8.

Expression of mutant PRPF31 proteins leads to retinal cell death. Primary murine retinal cells were transfected to express PRPF31 wild-type (A1-A3), N371 (B1-B3), or N256 (C1-C3) as GFP-fusion proteins, with green fluorescence showing the nuclear distribution of wild-type or N371 mutant PRPF31 (A1 and B1, respectively) and predominantly cytoplasmic localization of N256 mutant PRPF31 protein (C1). Nuclear staining was performed using bis-benzamide (A2-C2). The arrowheads in A2-C2 mark healthy nuclei in the neighboring cells in the same dishes. The arrows in B2 and C2 show a fragmented nucleus (B) and condensed nucleus (C), respectively. A3-C3 are superimposed images from corresponding ones in columns 1 and 2. The nuclear morphology of cells expressing mutant PRPF31 proteins suggests that these cells are undergoing apoptosis.