title: The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4- phosphate 5-kinase.
abstract: The STM7 gene on chromosome 9 was recently 'excluded' as a candidate for Friedreich's ataxia following the identification of an expanded intronic GAA triplet repeat in the adjacent gene, X25, in patients with the disease. Using RT-PCR, northern and sequence analyses, we now demonstrate that X25 comprises part of the STM7 gene, contributing to at least four splice variants, and report the identification of new coding sequences. Functional analysis of the STM7 recombinant protein corresponding to the reported 2.7-kilobase transcript has demonstrated PtdlnsP 5-kinase activity, supporting the idea that the disease is caused by a defect in the phosphoinositide pathway, possibly affecting vesicular trafficking or synaptic transmission.
authors.affiliation: Department of Biochemistry and Molecular Genetics, Imperial College School of Medicine at St. Mary's, London, UK.
authors.forename: J J
authors.initials: JJ
authors.lastname: Carvajal
authors.forename: M A
authors.initials: MA
authors.lastname: Pook
authors.forename: M
authors.initials: M
authors.lastname: dos Santos
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: Minogue
authors.forename: R
authors.initials: R
authors.lastname: Williamson
authors.forename: J J
authors.initials: JJ
authors.lastname: Hsuan
authors.forename: S
authors.initials: S
authors.lastname: Chamberlain
mesh_terms: D000328:Adult; D017398:Alternative Splicing / Q000235:genetics; D000595:Amino Acid Sequence; D002874:Chromosome Mapping; D005091:Exons / Q000235:genetics; D005621:Friedreich Ataxia / Q000201:enzymology / Q000235:genetics*; D005796:Genes / Q000235:genetics*; D006801:Humans; D033862:Iron-Binding Proteins; D008969:Molecular Sequence Data; D009928:Organ Specificity; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics* / Q000378:metabolism; D010920:Placenta; D011506:Proteins / Q000235:genetics*; D012333:RNA, Messenger / Q000032:analysis / Q000235:genetics; D011993:Recombinant Fusion Proteins / Q000378:metabolism; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid; D000096923:Frataxin
chemical_list: D033862:Iron-Binding Proteins; D017853:Phosphotransferases (Alcohol Group Acceptor); D011506:Proteins; D012333:RNA, Messenger; D011993:Recombinant Fusion Proteins; D000096923:Frataxin; C020077:1-phosphatidylinositol-4-phosphate 5-kinase