USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses
Details
Serval ID
serval:BIB_3DE6AB29D909
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses
Journal
European Journal of Human Genetics
ISSN
1018-4813 (Print)
Publication state
Published
Issued date
06/2002
Volume
10
Number
6
Pages
339-50
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Jun
Research Support, Non-U.S. Gov't --- Old month value: Jun
Abstract
Usher syndrome type 3 (USH3) is an autosomal recessive disorder characterised by the association of post-lingual progressive hearing loss, progressive visual loss due to retinitis pigmentosa and variable presence of vestibular dysfunction. Because the previously defined transcripts do not account for all USH3 cases, we performed further analysis and revealed the presence of additional exons embedded in longer human and mouse USH3A transcripts and three novel USH3A mutations. Expression of Ush3a transcripts was localised by whole mount in situ hybridisation to cochlear hair cells and spiral ganglion cells. The full length USH3A transcript encodes clarin-1, a four-transmembrane-domain protein, which defines a novel vertebrate-specific family of three paralogues. Limited sequence homology to stargazin, a cerebellar synapse four-transmembrane-domain protein, suggests a role for clarin-1 in hair cell and photoreceptor cell synapses, as well as a common pathophysiological pathway for different Usher syndromes.
Keywords
Amino Acid Sequence
Animals
Calcium Channels/genetics
Chromosome Mapping
Female
Gene Expression Profiling
Hair Cells/*physiology
Humans
In Situ Hybridization
Male
Membrane Proteins/*genetics/physiology
Mice
Molecular Sequence Data
Mutation
Pedigree
Phylogeny
Sequence Alignment
Sequence Analysis, DNA
Sequence Analysis, Protein
Synapses/*physiology
Pubmed
Web of science
Open Access
Yes
Create date
25/01/2008 16:18
Last modification date
20/08/2019 13:34