title: Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations.
abstract: Usher syndrome type III is an autosomal recessive disorder characterized by progressive sensorineural hearing loss, vestibular dysfunction, and retinitis pigmentosa. The disease gene was localized to 3q25 and recently was identified by positional cloning. In the present study, we have revised the structure of the USH3 gene, including a new translation start site, 5' untranslated region, and a transcript encoding a 232-amino acid protein. The mature form of the protein is predicted to contain three transmembrane domains and 204 residues. We have found four new disease-causing mutations, including one that appears to be relatively common in the Ashkenazi Jewish population. We have also identified mouse (chromosome 3) and rat (chromosome 2) orthologues, as well as two human paralogues on chromosomes 4 and 10.
authors.affiliation: Center for the Study and Treatment of Usher Syndrome, Boys Town National Research Hospital Omaha, NE, 68131, USA.
authors.forename: Randall R
authors.initials: RR
authors.lastname: Fields
authors.forename: Guimei
authors.initials: G
authors.lastname: Zhou
authors.forename: Dali
authors.initials: D
authors.lastname: Huang
authors.forename: Jack R
authors.initials: JR
authors.lastname: Davis
authors.forename: Claes
authors.initials: C
authors.lastname: Möller
authors.forename: Samuel G
authors.initials: SG
authors.lastname: Jacobson
authors.forename: William J
authors.initials: WJ
authors.lastname: Kimberling
authors.forename: Janos
authors.initials: J
authors.lastname: Sumegi
mesh_terms: D020121:5' Untranslated Regions / Q000235:genetics; D000818:Animals; D001483:Base Sequence; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D004252:DNA Mutational Analysis; D023281:Genomics; D006801:Humans; D007585:Jews / Q000235:genetics; D015810:Linkage Disequilibrium / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics*; D051379:Mice; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D020161:Physical Chromosome Mapping; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D014176:Protein Biosynthesis / Q000235:genetics; D017434:Protein Structure, Tertiary; D051381:Rats; D016415:Sequence Alignment; D013577:Syndrome
chemical_list: D020121:5' Untranslated Regions; C437067:CLRN1 protein, human; C512668:Clrn1 protein, mouse; C512669:Clrn1 protein, rat; D008565:Membrane Proteins