title: Exon-intron structure of a 2.7-kb transcript of the STM7 gene with phosphatidylinositol-4-phosphate 5-kinase activity.
abstract: The STM7 gene encodes a novel phosphatidylinositol-4-phosphate 5-kinase (PtdInsP 5-kinase) that is subject to alternative splicing and developmental control. We have recently presented data indicating that several splice variants of STM7 incorporate elements of the X25 sequence, previously implicated in the pathogenesis of Friedreich's ataxia by the detection of an intronic GAA repeat expansion as the predominant mutation in affected individuals. We now report the exon-intron structure of STM7.I and primer sequences designed to facilitate full characterization, including details relating to a novel exon (STM7; exon 17) derived from the 3'-UTR of the PRKACG gene. The detection of a mutation(s) within these exons would provide additional support for the hypothesis that a defect in phosphoinositide metabolism gives rise to the disease phenotype.
authors.affiliation: Department of Biochemistry and Molecular Genetics, Imperial College School of Medicine at St. Mary's, London, United Kingdom.
authors.forename: M A
authors.initials: MA
authors.lastname: Pook
authors.forename: J J
authors.initials: JJ
authors.lastname: Carvajal
authors.forename: K
authors.initials: K
authors.lastname: Doudney
authors.forename: R
authors.initials: R
authors.lastname: Hillermann
authors.forename: S
authors.initials: S
authors.lastname: Chamberlain
mesh_terms: D017398:Alternative Splicing; D001483:Base Sequence; D017931:DNA Primers / Q000235:genetics; D005091:Exons; D005621:Friedreich Ataxia / Q000201:enzymology / Q000235:genetics; D006801:Humans; D007438:Introns; D033862:Iron-Binding Proteins; D018598:Minisatellite Repeats; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018911:Trinucleotide Repeats; D000096923:Frataxin
chemical_list: D017931:DNA Primers; D033862:Iron-Binding Proteins; D017853:Phosphotransferases (Alcohol Group Acceptor); D000096923:Frataxin