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

Phillips, Jennifer B; Blanco-Sanchez, Bernardo; Lentz, Jennifer J; Tallafuss, Alexandra; Khanobdee, Kornnika; Sampath, Srirangan; Jacobs, Zachary G; Han, Philip F; Mishra, Monalisa; Titus, Tom A; Williams, David S; Keats, Bronya; Washbourne, Philip; Westerfield, Monte

Description

Usher syndrome is the most prevalent cause of hereditary deaf-blindness, characterized by congenital sensorineural hearing impairment and progressive photoreceptor degeneration beginning in childhood or adolescence. Diagnosis and management of this disease are complex, and the molecular changes underlying sensory cell impairment remain poorly understood. Here we characterize two zebrafish models for a severe form of Usher syndrome, Usher syndrome type 1C (USH1C): one model is a mutant with a...[Show more]

dc.contributor.authorPhillips, Jennifer B
dc.contributor.authorBlanco-Sanchez, Bernardo
dc.contributor.authorLentz, Jennifer J
dc.contributor.authorTallafuss, Alexandra
dc.contributor.authorKhanobdee, Kornnika
dc.contributor.authorSampath, Srirangan
dc.contributor.authorJacobs, Zachary G
dc.contributor.authorHan, Philip F
dc.contributor.authorMishra, Monalisa
dc.contributor.authorTitus, Tom A
dc.contributor.authorWilliams, David S
dc.contributor.authorKeats, Bronya
dc.contributor.authorWashbourne, Philip
dc.contributor.authorWesterfield, Monte
dc.date.accessioned2015-12-10T22:16:33Z
dc.identifier.issn1754-8403
dc.identifier.urihttp://hdl.handle.net/1885/50997
dc.description.abstractUsher syndrome is the most prevalent cause of hereditary deaf-blindness, characterized by congenital sensorineural hearing impairment and progressive photoreceptor degeneration beginning in childhood or adolescence. Diagnosis and management of this disease are complex, and the molecular changes underlying sensory cell impairment remain poorly understood. Here we characterize two zebrafish models for a severe form of Usher syndrome, Usher syndrome type 1C (USH1C): one model is a mutant with a newly identified ush1c nonsense mutation, and the other is a morpholino knockdown of ush1c. Both have defects in hearing, balance and visual function from the first week of life. Histological analyses reveal specific defects in sensory cell structure that are consistent with these behavioral phenotypes and could implicate Müller glia in the retinal pathology of Usher syndrome. This study shows that visual defects associated with loss of ush1c function in zebrafish can be detected from the onset of vision, and thus could be applicable to early diagnosis for USH1C patients.
dc.publisherThe Company of Biologists Ltd
dc.sourceDisease Models and Mechanisms
dc.subjectKeywords: protein ush1c; unclassified drug; zebrafish protein; animal tissue; article; cell function; cell structure; gene expression; gene function; genotype; hair cell; morphogenesis; Mueller cell; nonhuman; nonsense mutation; phenotype; photoreceptor; priority j
dc.titleHarmonin (Ush1c) is required in zebrafish Muller glial cells for photoreceptor synaptic development and function
dc.typeJournal article
local.description.notesImported from ARIES
local.identifier.citationvolume4
dc.date.issued2011
local.identifier.absfor060408 - Genomics
local.identifier.absfor110906 - Sensory Systems
local.identifier.ariespublicationu8611701xPUB214
local.type.statusPublished Version
local.contributor.affiliationPhillips, Jennifer B, University of Oregon
local.contributor.affiliationBlanco-Sanchez, Bernardo, University of Oregon
local.contributor.affiliationLentz, Jennifer J, Louisiana State University
local.contributor.affiliationTallafuss, Alexandra, University of Oregon
local.contributor.affiliationKhanobdee, Kornnika, University of California San Diego
local.contributor.affiliationSampath, Srirangan, Louisiana State University
local.contributor.affiliationJacobs, Zachary G, University of Oregon
local.contributor.affiliationHan, Philip F, University of Oregon
local.contributor.affiliationMishra, Monalisa, University of California San Diego
local.contributor.affiliationTitus, Tom A, University of Oregon
local.contributor.affiliationWilliams, David S, University of California San Diego
local.contributor.affiliationKeats, Bronya, College of Medicine, Biology and Environment, ANU
local.contributor.affiliationWashbourne, Philip, University of Oregon
local.contributor.affiliationWesterfield, Monte, University of Oregon
local.description.embargo2037-12-31
local.bibliographicCitation.startpage786
local.bibliographicCitation.lastpage800
local.identifier.doi10.1242/dmm.006429
local.identifier.absseo920107 - Hearing, Vision, Speech and Their Disorders
dc.date.updated2016-02-24T11:41:33Z
local.identifier.scopusID2-s2.0-81455136716
local.identifier.thomsonID000296761500011
CollectionsANU Research Publications

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