Literature DB >> 24045267

The cone-dominant retina and the inner ear of zebrafish express the ortholog of CLRN1, the causative gene of human Usher syndrome type 3A.

Jennifer B Phillips1, Hanna Västinsalo, Jeremy Wegner, Aurélie Clément, Eeva-Marja Sankila, Monte Westerfield.   

Abstract

Clarin-1 (CLRN1) is the causative gene in Usher syndrome type 3A, an autosomal recessive disorder characterized by progressive vision and hearing loss. CLRN1 encodes Clarin-1, a glycoprotein with homology to the tetraspanin family of proteins. Previous cell culture studies suggest that Clarin-1 localizes to the plasma membrane and interacts with the cytoskeleton. Mouse models demonstrate a role for the protein in mechanosensory hair bundle integrity, but the function of Clarin-1 in hearing remains unclear. Even less is known of its role in vision, because the Clrn1 knockout mouse does not exhibit a retinal phenotype and expression studies in murine retinas have provided conflicting results. Here, we describe cloning and expression analysis of the zebrafish clrn1 gene, and report protein localization of Clarin-1 in auditory and visual cells from embryonic through adult stages. We detect clrn1 transcripts as early as 24h post-fertilization, and expression is maintained through adulthood. In situ hybridization experiments show clrn1 transcripts enriched in mechanosensory hair cells and supporting cells of the inner ear and lateral line organ, photoreceptors, and cells of the inner retina. In mechanosensory hair cells, Clarin-1 is polarized to the apical cell body and the synapses. In the retina, Clarin-1 localizes to lateral cell contacts between photoreceptors and is associated with the outer limiting membrane and subapical processes emanating from Müller glial cells. We also find Clarin-1 protein in the outer plexiform, inner nuclear and ganglion cell layers of the retina. Given the importance of Clarin-1 function in the human retina, it is imperative to find an animal model with a comparable requirement. Our data provide a foundation for exploring the role of Clarin-1 in retinal cell function and survival in a diurnal, cone-dominant species.
Copyright © 2013 Elsevier B.V. All rights reserved.

Entities:  

Keywords:  Blindness; Clarin-1; Deafness; Retinal cell biology; Retinitis pigmentosa; Usher syndrome; Zebrafish sensory organs

Mesh:

Substances:

Year:  2013        PMID: 24045267      PMCID: PMC3888827          DOI: 10.1016/j.gep.2013.09.001

Source DB:  PubMed          Journal:  Gene Expr Patterns        ISSN: 1567-133X            Impact factor:   1.224


  36 in total

1.  Duplicated genes with split functions: independent roles of protocadherin15 orthologues in zebrafish hearing and vision.

Authors:  Christoph Seiler; Karin C Finger-Baier; Oliver Rinner; Yuri V Makhankov; Heinz Schwarz; Stephan C F Neuhauss; Teresa Nicolson
Journal:  Development       Date:  2005-01-05       Impact factor: 6.868

2.  Use of the Gal4-UAS technique for targeted gene expression in the zebrafish.

Authors:  N Scheer; J A Campos-Ortega
Journal:  Mech Dev       Date:  1999-02       Impact factor: 1.882

3.  Alternative splice variants of the USH3A gene Clarin 1 (CLRN1).

Authors:  Hanna Västinsalo; Reetta Jalkanen; Astra Dinculescu; Juha Isosomppi; Scott Geller; John G Flannery; William W Hauswirth; Eeva-Marja Sankila
Journal:  Eur J Hum Genet       Date:  2010-08-18       Impact factor: 4.246

4.  Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss.

Authors:  Jun Yang; Xiaoqing Liu; Yun Zhao; Michael Adamian; Basil Pawlyk; Xun Sun; D Randy McMillan; M Charles Liberman; Tiansen Li
Journal:  PLoS Genet       Date:  2010-05-20       Impact factor: 5.917

5.  The outer limiting membrane (OLM) revisited: clinical implications.

Authors:  S Omri; B Omri; M Savoldelli; L Jonet; B Thillaye-Goldenberg; G Thuret; P Gain; J C Jeanny; P Crisanti; Francine Behar-Cohen
Journal:  Clin Ophthalmol       Date:  2010-04-26

6.  Anti-clarin-1 AAV-delivered ribozyme induced apoptosis in the mouse cochlea.

Authors:  A A Aarnisalo; L Pietola; J Joensuu; J Isosomppi; P Aarnisalo; A Dinculescu; A S Lewin; J Flannery; W W Hauswirth; E-M Sankila; J Jero
Journal:  Hear Res       Date:  2007-04-05       Impact factor: 3.208

Review 7.  Autosomal recessive nonsyndromic deafness genes: a review.

Authors:  Duygu Duman; Mustafa Tekin
Journal:  Front Biosci (Landmark Ed)       Date:  2012-06-01

8.  Role for a novel Usher protein complex in hair cell synaptic maturation.

Authors:  Marisa Zallocchi; Daniel T Meehan; Duane Delimont; Joseph Rutledge; Michael Anne Gratton; John Flannery; Dominic Cosgrove
Journal:  PLoS One       Date:  2012-02-17       Impact factor: 3.240

9.  Harmonin (Ush1c) is required in zebrafish Müller glial cells for photoreceptor synaptic development and function.

Authors:  Jennifer B Phillips; Bernardo Blanco-Sanchez; Jennifer J Lentz; Alexandra Tallafuss; Kornnika Khanobdee; Srirangan Sampath; Zachary G Jacobs; Philip F Han; Monalisa Mishra; Tom A Titus; David S Williams; Bronya J Keats; Philip Washbourne; Monte Westerfield
Journal:  Dis Model Mech       Date:  2011-07-14       Impact factor: 5.758

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  9 in total

1.  Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome.

Authors:  Didier Dulon; Samantha Papal; Pranav Patni; Matteo Cortese; Philippe Fy Vincent; Margot Tertrais; Alice Emptoz; Abdelaziz Tlili; Yohan Bouleau; Vincent Michel; Sedigheh Delmaghani; Alain Aghaie; Elise Pepermans; Olinda Alegria-Prevot; Omar Akil; Lawrence Lustig; Paul Avan; Saaid Safieddine; Christine Petit; Aziz El-Amraoui
Journal:  J Clin Invest       Date:  2018-07-09       Impact factor: 14.808

2.  Characterization of the Tetraspan Junctional Complex (4JC) superfamily.

Authors:  Amy Chou; Andre Lee; Kevin J Hendargo; Vamsee S Reddy; Maksim A Shlykov; Harikrishnan Kuppusamykrishnan; Arturo Medrano-Soto; Milton H Saier
Journal:  Biochim Biophys Acta Biomembr       Date:  2016-12-02       Impact factor: 3.747

Review 3.  Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities.

Authors:  Pranav Mathur; Jun Yang
Journal:  Biochim Biophys Acta       Date:  2014-12-04

4.  Zebrafish Models for the Mechanosensory Hair Cell Dysfunction in Usher Syndrome 3 Reveal That Clarin-1 Is an Essential Hair Bundle Protein.

Authors:  Suhasini R Gopal; Daniel H-C Chen; Shih-Wei Chou; Jingjing Zang; Stephan C F Neuhauss; Ruben Stepanyan; Brian M McDermott; Kumar N Alagramam
Journal:  J Neurosci       Date:  2015-07-15       Impact factor: 6.167

5.  Mutation of POC1B in a severe syndromic retinal ciliopathy.

Authors:  Bodo B Beck; Jennifer B Phillips; Malte P Bartram; Jeremy Wegner; Michaela Thoenes; Andrea Pannes; Josephina Sampson; Raoul Heller; Heike Göbel; Friederike Koerber; Antje Neugebauer; Andrea Hedergott; Gudrun Nürnberg; Peter Nürnberg; Holger Thiele; Janine Altmüller; Mohammad R Toliat; Simon Staubach; Kym M Boycott; Enza Maria Valente; Andreas R Janecke; Tobias Eisenberger; Carsten Bergmann; Lars Tebbe; Yang Wang; Yundong Wu; Andrew M Fry; Monte Westerfield; Uwe Wolfrum; Hanno J Bolz
Journal:  Hum Mutat       Date:  2014-08-11       Impact factor: 4.878

Review 6.  Usher syndrome IIIA: a review of the disorder and preclinical research advances in therapeutic approaches.

Authors:  Azmi Marouf; Benjamin Johnson; Kumar N Alagramam
Journal:  Hum Genet       Date:  2022-03-23       Impact factor: 4.132

7.  Clarin-1 acts as a modulator of mechanotransduction activity and presynaptic ribbon assembly.

Authors:  Oluwatobi Ogun; Marisa Zallocchi
Journal:  J Cell Biol       Date:  2014-11-03       Impact factor: 10.539

8.  AAV-Mediated Clarin-1 Expression in the Mouse Retina: Implications for USH3A Gene Therapy.

Authors:  Astra Dinculescu; Rachel M Stupay; Wen-Tao Deng; Frank M Dyka; Seok-Hong Min; Sanford L Boye; Vince A Chiodo; Carolina E Abrahan; Ping Zhu; Qiuhong Li; Enrica Strettoi; Elena Novelli; Kerstin Nagel-Wolfrum; Uwe Wolfrum; W Clay Smith; William W Hauswirth
Journal:  PLoS One       Date:  2016-02-16       Impact factor: 3.240

9.  Clarin-1 expression in adult mouse and human retina highlights a role of Müller glia in Usher syndrome.

Authors:  Lei Xu; Susan N Bolch; Clayton P Santiago; Frank M Dyka; Omar Akil; Ekaterina S Lobanova; Yuchen Wang; Kirill A Martemyanov; William W Hauswirth; W Clay Smith; James T Handa; Seth Blackshaw; John D Ash; Astra Dinculescu
Journal:  J Pathol       Date:  2019-12-04       Impact factor: 7.996

  9 in total

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