Primary cilia biogenesis and associated retinal ciliopathies

• Published in: Seminars in cell & developmental biology Vol. 110; pp. 70 - 88
• Main Authors: Chen, Holly Y., Kelley, Ryan A., Li, Tiansen, Swaroop, Anand
• Format: Journal Article
• Language: English
• Published: England Elsevier Ltd 01.02.2021
• Subjects: Animals; Antigens, Neoplasm - genetics; Antigens, Neoplasm - metabolism; Biological Transport; Cell Cycle Proteins - genetics; Cell Cycle Proteins - metabolism; Centrioles - metabolism; Centrioles - ultrastructure; CEP290; Cilia - metabolism; Cilia - ultrastructure; Ciliogenesis; Ciliopathies - genetics; Ciliopathies - metabolism; Ciliopathies - pathology; Cytoskeletal Proteins - genetics; Cytoskeletal Proteins - metabolism; Disease Models, Animal; Gene Expression Regulation; Humans; Intracellular transport; Light Signal Transduction; Mice; Microtubule-Associated Proteins - genetics; Microtubule-Associated Proteins - metabolism; Microtubules - metabolism; Microtubules - ultrastructure; Phosphoproteins - genetics; Phosphoproteins - metabolism; Photoreceptor; Photoreceptor Cells, Vertebrate - metabolism; Photoreceptor Cells, Vertebrate - pathology; Retinal degeneration; Retinal Degeneration - genetics; Retinal Degeneration - metabolism; Retinal Degeneration - pathology; Retinitis Pigmentosa - genetics; Retinitis Pigmentosa - metabolism; Retinitis Pigmentosa - pathology; Sensory cilia; TZ; Sensory cilia; CLS; SDA; BBS; MC; mTOR; JSRD; SLS; CEP290; Hh; iPSC; OMIM; IS; LCA; MEF; PCD; Cryo-ET; TGF; AV; AAV; GPCR; SEM; PCM; PTC; RP; BB; PCV; RPE; Photoreceptor; JS; IFT; PDGFR; Wnt; AON; CC; Intracellular transport; OS; STED; Ciliogenesis; sgRNAs; NPHP; FIB-SEM; STORM; TF; CV; MKS; Retinal degeneration; DA; TEM; DC

[Display omitted] The primary cilium is a ubiquitous microtubule-based organelle that senses external environment and modulates diverse signaling pathways in different cell types and tissues. The cilium originates from the mother centriole through a complex set of cellular events requiring hundreds...