USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses

Détails

ID Serval
serval:BIB_3DE6AB29D909
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses
Périodique
European Journal of Human Genetics
Auteur⸱e⸱s
Adato  A., Vreugde  S., Joensuu  T., Avidan  N., Hamalainen  R., Belenkiy  O., Olender  T., Bonne-Tamir  B., Ben-Asher  E., Espinos  C., Millan  J. M., Lehesjoki  A. E., Flannery  J. G., Avraham  K. B., Pietrokovski  S., Sankila  E. M., Beckmann  J. S., Lancet  D.
ISSN
1018-4813 (Print)
Statut éditorial
Publié
Date de publication
06/2002
Volume
10
Numéro
6
Pages
339-50
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Jun
Résumé
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.
Mots-clé
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
Oui
Création de la notice
25/01/2008 17:18
Dernière modification de la notice
20/08/2019 14:34
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