Characterization of a novel zebrafish (Danio rerio) gene wdr81 associated with cerebellar ataxia mental retardation and dysequilibrium syndrome (CAMRQ)

摘要

BackgroundWDR81 (WD repeat-containing protein 81) is associated with cerebellar ataxia, mental retardation and disequilibrium syndrome (CAMRQ2, [MIM 610185]). Human and mouse studies suggest that it might be a gene of importance during neurodevelopment. This study aimed at fully characterizing the structure of the wdr81 transcript, detecting the possible transcript variants and revealing its expression profile in zebrafish, a powerful model organism for studying development and disease.