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 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.
Sugimoto
Y
Y
Laboratory for Neurogenetics, Brain Science Institute, The Institute of Physical and Chemical Research (RIKEN), 2-1 Hirosawa, Wako-shi, 351-0198, Saitama, Japan.
Morita
R
R
Amano
K
K
Shah
P U
PU
Pascual-Castroviejo
I
I
Khan
S
S
Delgado-Escueta
A V
AV
Yamakawa
K
K
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
C118777:KHDRBS3 protein, human; D016601:RNA-Binding Proteins; D012313:RNA