title: Knockdown of poc1b causes abnormal photoreceptor sensory cilium and vision impairment in zebrafish.
abstract: Proteomic analysis of the mouse photoreceptor sensory cilium identified a set of cilia proteins, including Poc1 centriolar protein b (Poc1b). Previous functional studies in human cells and zebrafish embryos implicated that Poc1b plays important roles in centriole duplication and length control, as well as ciliogenesis. To study the function of Poc1b in photoreceptor sensory cilia and other primary cilia, we expressed a tagged recombinant Poc1b protein in cultured renal epithelial cells and rat retina. Poc1b was localized to the centrioles and spindle bundles during cell cycle progression, and to the basal body of photoreceptor sensory cilia. A morpholino knockdown and complementation assay of poc1b in zebrafish showed that loss of poc1b led to a range of morphological anomalies of cilia commonly associated with human ciliopathies. In the retina, the development of retinal laminae was significantly delayed and the length of photoreceptor outer segments was shortened. Visual behavior studies revealed impaired visual function in the poc1b morphants. In addition, ciliopathy-associated developmental defects, such as small eyes, curved body axis, heart defects, and shortened cilia in Kupffer's vesicle, were observed as well. These data suggest that poc1b is required for normal development and ciliogenesis of retinal photoreceptor sensory cilia and other cilia. Furthermore, this conclusion is supported by recent findings that mutations in POC1B gene have been identified in patients with inherited retinal dystrophy and syndromic retinal ciliopathy.
authors.affiliation: Department of Ophthalmology, Shanghai Tenth People's Hospital, Tongji University, Shanghai, China.
authors.forename: Conghui
authors.initials: C
authors.lastname: Zhang
authors.affiliation: Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA.
authors.forename: Qi
authors.initials: Q
authors.lastname: Zhang
authors.affiliation: Department of Ophthalmology, Shanghai Tenth People's Hospital, Tongji University, Shanghai, China. Electronic address: dreyemilwang_122@163.com.
authors.forename: Fang
authors.initials: F
authors.lastname: Wang
authors.affiliation: Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA; Berman-Gund Laboratory for the Study of Retinal Degenerations, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA. Electronic address: qin_liu@meei.harvard.edu.
authors.forename: Qin
authors.initials: Q
authors.lastname: Liu
mesh_terms: D000818:Animals; D016466:CHO Cells; D018797:Cell Cycle Proteins / Q000235:genetics; D002502:Centrioles / Q000502:physiology; D002923:Cilia / Q000502:physiology; D003412:Cricetulus; D055785:Gene Knockdown Techniques; D005816:Genetic Complementation Test; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D051379:Mice; D009154:Mutation; D055212:Photoreceptor Connecting Cilium / Q000502:physiology*; D040901:Proteomics; D051381:Rats; D011994:Recombinant Proteins / Q000235:genetics / Q000378:metabolism; D058499:Retinal Dystrophies / Q000235:genetics; D014786:Vision Disorders / Q000235:genetics / Q000503:physiopathology; D015027:Zebrafish / Q000196:embryology / Q000235:genetics / Q000502:physiology*; D029961:Zebrafish Proteins / Q000037:antagonists & inhibitors* / Q000235:genetics / Q000502:physiology*
chemical_list: D018797:Cell Cycle Proteins; C000592372:POC1B protein, human; D011994:Recombinant Proteins; D029961:Zebrafish Proteins
keywords: Basal body; Ciliopathy; Inherited retinal degenerations (IRDs); Photoreceptor sensory cilia (PSC); Zebrafish; poc1b