Fig. 2: Immunocytochemistry analysis of GPATCH11 subcellular localization in the fibroblasts from a control (C1) and affected individual (P1) carrying the c.328+1G>T variant in homozygosity.
From: GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment
a Nuclear and centrosomal localization. Immunostaining of GPATCH11 (magenta), SC-35, and H3K9me3 (yellow). Magenta arrows show GPATCH11 at the centrosome. Scale bars, 10 µm. b Centrosomal localization of GPATCH11. Immunostaining of GPATCH11 (magenta), Centrin3 (centrioles), Rootletin (linker fibers), and acetylated α-Tubulin (cilia) in cyan. Serum free culture was used to promote ciliation. Cyan arrows show centrioles, linker fibers, or cilia, respectively. Scale bars, 2 µm. c Immunostaining of GPATCH11 (magenta), ACA (yellow), CENP-E (cyan) at different phases of the mitosis. Magenta arrows show GPATCH11 at the centrosome. Scale bar, 10 µm. DAPI is used to label the nucleus (blue). All the pictures are representative of three independent experiments.
