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

Epilepsy Res. 2001 Aug;46(2):139-44. doi: 10.1016/s0920-1211(01)00274-1.

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.

MeSH terms

  • Base Sequence / genetics
  • Blotting, Northern
  • Child
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 8 / genetics*
  • DNA Mutational Analysis*
  • Epilepsy, Absence / genetics*
  • Gene Expression
  • Genome
  • Humans
  • Molecular Sequence Data
  • RNA / metabolism
  • RNA-Binding Proteins / genetics*
  • Tissue Distribution

Substances

  • KHDRBS3 protein, human
  • RNA-Binding Proteins
  • RNA

Associated data

  • RefSeq/NM_006558