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. 2019 Apr;60(5):1680–1695. doi: 10.1167/iovs.19-26672

Figure 1.

Figure 1

CEP290 expression in rod and cone photoreceptors. (A) Schematic of a rod photoreceptor, showing specialized domains of the cell. (B) Enlargement of the rod photoreceptor transition zone showing the structural and functional domains in which most ciliary proteins are expressed: axoneme (green), connecting cilium/transition zone (CC/TZ; orange), basal body (BB; purple), periciliary complex or ciliary pocket (PCC/CP; red). (C) Cross section through the CC/TZ showing the relationship between the microtubules of the cilium and the inner segment, via the PCC/CP. (A–C) Reprinted and modified with permission from Rachel RA, Li T, Swaroop A. Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins. Cilia. 2012;1:22. © 2012 The Authors. Published by BioMed Central, Ltd. (D) Three-dimensional representation of the transition zone and adjacent domains. Possible positions of rod-like coiled-coil domain proteins such as CEP290, which localize to the region of the Y-linkers between the plasma membrane and the microtubule ring. Reprinted and modified with permission of Rachel RA, Yamamoto EA, Dewanjee MK, et al. CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies. Hum Mol Genet. 2015;24:3775–3791. © 2015 The Authors. Published by Oxford University Press. (E) Immunofluorescence staining of CEP290 in macular cones of monkey retina. Sections stained with CEP290 (green) and cone-specific marker PNA (red) indicate colocalization (Merge; arrows). DAPI (blue) used to stain the nuclei. Scale bar: 10 μm. Reprinted with permission from Cideciyan AV, Aleman TS, Jacobson SG, et al. Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis. Hum Mutat. 2007;28:1074–1083. © 2007 John Wiley & Sons, Inc. Published by Wiley-Liss, Inc.