title: T-STAR gene: fine mapping in the candidate region for childhood absence epilepsy on 8q24 and mutational analysis in patients.
abstract: Childhood absence epilepsy (CAE) is one of the most common epilepsies in children. At least four phenotypic subcategories of CAE have been proposed. Among them, a subtype persisting with tonic-clonic seizures has been mapped to 8q24 (ECA1 MIM 600131). By constructing a physical map for the 8q24 region, we recently narrowed the ECA1 locus to a 1.5-Mb region. In the present communication, we show that T-STAR gene is located within the ECA1 region. T-STAR is a novel member of STAR (for signal transduction and activation of RNA) family, and is predicted to encode a spermatogenesis related RNA-binding protein. T-STAR is located within the markers D8S2049 and D8S1753 and its complete coding region spans nine exons. In addition to its known expression in testis, moderate level of transcripts for T-STAR gene was detected in brain, heart and is highly abundant in skeletal muscle. Mutational analysis for the T-SATR gene in CAE families did not show any sequence variation in the coding region, and this suggests that the T-STAR gene is not involved in the pathogenesis of persisting CAE. However, genomic organization of T-STAR gene characterized in the present report might help in understanding the biological functions of T-STAR as well as its suspected involvement in other disorders mapped on this region.
authors.affiliation: Laboratory for Neurogenetics, Brain Science Institute, The Institute of Physical and Chemical Research (RIKEN), 2-1 Hirosawa, Wako-shi, 351-0198, Saitama, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Sugimoto
authors.forename: R
authors.initials: R
authors.lastname: Morita
authors.forename: K
authors.initials: K
authors.lastname: Amano
authors.forename: P U
authors.initials: PU
authors.lastname: Shah
authors.forename: I
authors.initials: I
authors.lastname: Pascual-Castroviejo
authors.forename: S
authors.initials: S
authors.lastname: Khan
authors.forename: A V
authors.initials: AV
authors.lastname: Delgado-Escueta
authors.forename: K
authors.initials: K
authors.lastname: Yamakawa
mesh_terms: D001483:Base Sequence / Q000235:genetics; D015152:Blotting, Northern; D002648:Child; D002874:Chromosome Mapping; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D004252:DNA Mutational Analysis; D004832:Epilepsy, Absence / Q000235:genetics*; D015870:Gene Expression; D016678:Genome; D006801:Humans; D008969:Molecular Sequence Data; D012313:RNA / Q000378:metabolism; D016601:RNA-Binding Proteins / Q000235:genetics*; D014018:Tissue Distribution
chemical_list: C118777:KHDRBS3 protein, human; D016601:RNA-Binding Proteins; D012313:RNA