ZFIN Image: Tucker et al., 2021, Fig. 3

Image

Figure Caption

Fig. 3

Restoration of MAK protein rescues aberrant primary cilia length defect in patient-derived dermal fibroblasts.

A–F Immunocytochemical analysis using an antibody targeted against anti-acetylated tubulin (primary cilia marker) to stain dermal fibroblasts isolated from an unaffected control individual (A – control) and a patient with molecularly confirmed MAK-associated RP (B–F). Cells from the patient with MAK-associated RP were transduced with viral vectors driving canonical (C, E) or retinal MAK (D and G. Untransduced cultures of patient derived cells were used as a disease phenotype control (B). G Histogram comparing mean primary cilia length between a normal individual (n = 25 cells) and 3 independent patients with MAK-associated RP before and after transduction with viral vectors driving either canonical or retinal MAK (n = 75 cells, 25 cells per patient for each of 3 patients). The primary cilium in fibroblasts isolated from patients with MAK-associated RP was significantly longer than that of an unaffected control individual. Transduction with retinal MAK under control of either the CMV or EF1α promoter reduced the primary cilium length to that of the control. A significant reduction in primary cilium length was detected following transduction of with canonical MAK driven by the CMV promoter only. (**p < 0.01, ****P < 0.001). Scale bars = 100 μm.

Acknowledgments

This image is the copyrighted work of the attributed author or publisher, and ZFIN has permission only to display this image to its users. Additional permissions should be obtained from the applicable author or publisher of the image. Full text @ Gene Ther.