title: The Role of Intraflagellar Transport in the Photoreceptor Sensory Cilium.
abstract: The photoreceptor is a complex specialized cell in which a major component responsible for visual transduction is the photoreceptor sensory cilium (PSC). Building and maintenance of the PSC requires the transport of large proteins along microtubules that extend from the inner segments to the outer segments. A key process, termed intraflagellar transport (IFT), has been recognized as an essential phenomenon for photoreceptor development and maintenance, and exciting new studies have highlighted its importance in retinal and cilia related diseases. This review focuses on the important roles of IFT players, including motor proteins, IFT proteins, and photoreceptor-specific cargos in photoreceptor sensory cilium. In addition, specific IFT components that are involved in inherited human diseases are discussed.
authors.affiliation: Ocular Genomics Institute, and Berman-Gund Laboratory for the Study of Retinal Degenerations, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, 243 Charles St., 5th Floor, 563C, 02114, Boston, MA, USA. dtaub1230@gmail.com.
authors.forename: Daniel G
authors.initials: DG
authors.lastname: Taub
authors.affiliation: Ocular Genomics Institute, and Berman-Gund Laboratory for the Study of Retinal Degenerations, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, 243 Charles St., 5th Floor, 563C, 02114, Boston, MA, USA. qin_liu@meei.harvard.edu.
authors.forename: Qin
authors.initials: Q
authors.lastname: Liu
mesh_terms: D000818:Animals; D001692:Biological Transport; D002352:Carrier Proteins / Q000235:genetics / Q000378:metabolism; D002923:Cilia / Q000235:genetics / Q000378:metabolism / Q000502:physiology*; D056445:Cytoplasmic Dyneins / Q000235:genetics / Q000378:metabolism; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D009154:Mutation; D020419:Photoreceptor Cells, Vertebrate / Q000378:metabolism / Q000502:physiology*; D055214:Retinal Photoreceptor Cell Outer Segment / Q000378:metabolism / Q000502:physiology*
chemical_list: D002352:Carrier Proteins; C099883:DYNC2H1 protein, human; C530863:IFT80 protein, human; D056445:Cytoplasmic Dyneins
keywords: Cilia; Inherited retinal degeneration; Intraflagellar transport (IFT); Photoreceptor; Protein transport