title: Detection of cone alpha transducin mRNA in human fetal cochlea: negative mutation analysis in Usher syndrome.
abstract: Cone alpha transducin (GNAT2), known to be expressed in photoreceptors, was found to be transcribed in human fetal cochlea. Due to the unexpected finding of expression of this gene in the inner ear and the success of the candidate gene approach in identifying mutations for a variety of heritable disorders, we investigated the possible role of this gene in Usher syndrome type I and type II. Single-strand conformation polymorphism (SSCP) was used to screen the GNAT2 coding region, as well as splice donor and acceptor sites, for mutations in a total of 140 unrelated patients. Two nucleotide changes leading to two silent amino acid changes and one rare polymorphism were found. In view of these results and those of a previously published Southern blot analysis, it is unlikely that mutations in GNAT2 are a common gene abnormality in Usher syndrome type I or type II.
authors.affiliation: Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.
authors.forename: I
authors.initials: I
authors.lastname: Magovcevic
authors.forename: E L
authors.initials: EL
authors.lastname: Berson
authors.forename: C C
authors.initials: CC
authors.lastname: Morton
mesh_terms: D001483:Base Sequence; D003051:Cochlea / Q000196:embryology / Q000378:metabolism*; D003638:Deafness / Q000235:genetics*; D004591:Electrophoresis, Polyacrylamide Gel; D018507:Gene Expression Regulation, Developmental / Q000235:genetics*; D005865:Gestational Age; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012333:RNA, Messenger / Q000378:metabolism; D012174:Retinitis Pigmentosa / Q000235:genetics; D015293:Transducin / Q000235:genetics / Q000378:metabolism*
chemical_list: D012333:RNA, Messenger; D015293:Transducin