T-STAR gene: fine mapping in the candidate region for childhood absence epilepsy on 8q24 and mutational analysis in patients

Childhood absence epilepsy (CAE) is one of the most common epilepsies in ch ildren. At least four phenotypic subcategories of CAE have been proposed. A mong them, a subtype persisting with tonic-clonic seizures has been mapped to 8q24 (ECA I MIM 600131). By constructing a physical map for the 8q24 reg ion, 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 ECA I 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-bi nding protein. T-STAR is located within the markers D8S2049 and D8S1753 and its complete coding region spans nine exons. In addition to its known expr ession in testis, moderate level of transcripts for T-STAR gene was detecte d in brain, heart and is highly abundant in skeletal muscle. Mutational ana lysis for the T-SATR gene in CAE families did not show any sequence variati on in the coding region, and this suggests that the T-STAR gene is not invo lved in the pathogenesis of persisting CAE. However, genomic organization o f T-STAR gene characterized in the present report might help in understandi ng the biological functions of T-STAR as well as its suspected involvement in other disorders mapped on this region. (C) 2001 Elsevier Science B.V. Al l rights reserved.