title: Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome.
abstract: Bardet-Biedl syndrome (BBS) is an oligogenic syndrome whose manifestations include retinal degeneration, renal abnormalities, obesity and polydactylia. Evidence suggests that the main etiopathophysiology of this syndrome is impaired intraflagellar transport (IFT). In this study, we study the Bbs4-null mouse and investigate photoreceptor structure and function after loss of this gene. We find that Bbs4-null mice have defects in the transport of phototransduction proteins from the inner segments to the outer segments, before signs of cell death. Additionally, we show defects in synaptic transmission from the photoreceptors to secondary neurons of the visual system, demonstrating multiple functions for BBS4 in photoreceptors.
authors.affiliation: Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.
authors.forename: Muhammad M
authors.initials: MM
authors.lastname: Abd-El-Barr
authors.forename: Kristen
authors.initials: K
authors.lastname: Sykoudis
authors.forename: Sara
authors.initials: S
authors.lastname: Andrabi
authors.forename: Erica R
authors.initials: ER
authors.lastname: Eichers
authors.forename: Mark E
authors.initials: ME
authors.lastname: Pennesi
authors.forename: Perciliz L
authors.initials: PL
authors.lastname: Tan
authors.forename: John H
authors.initials: JH
authors.lastname: Wilson
authors.forename: Nicholas
authors.initials: N
authors.lastname: Katsanis
authors.forename: James R
authors.initials: JR
authors.lastname: Lupski
authors.forename: Samuel M
authors.initials: SM
authors.lastname: Wu
mesh_terms: D000818:Animals; D017209:Apoptosis; D020788:Bardet-Biedl Syndrome / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology*; D002352:Carrier Proteins / Q000378:metabolism; D004596:Electroretinography; D007150:Immunohistochemistry; D008297:Male; D051379:Mice; D018345:Mice, Knockout; D008854:Microscopy, Electron; D008869:Microtubule-Associated Proteins / Q000032:analysis / Q000235:genetics / Q000378:metabolism*; D023421:Models, Animal; D010786:Photoreceptor Cells / Q000737:chemistry / Q000378:metabolism* / Q000648:ultrastructure; D021381:Protein Transport; D017299:Rod Opsins / Q000378:metabolism; D009435:Synaptic Transmission; D014785:Vision, Ocular
chemical_list: C506280:Bbs1 protein, mouse; D002352:Carrier Proteins; D008869:Microtubule-Associated Proteins; D017299:Rod Opsins