Identification and characterization of zebrafish mutants defective in locomotion/behavior and application to associ ated human diseases

我鉴定并分析了8个斑马鱼突变体，它们在运动和行为上都有缺陷。例如，突变体mi 310在PIG-U基因中具有点突变，这是GPI锚定蛋白生物合成所必需的。在突变体中，GPI锚定蛋白没有产生，电压门控钠通道的表面表达受到干扰，导致动作电位丧失。因此，突变斑马鱼没有表现出逃避行为，由于初级感觉神经元功能减退。人类中的相应基因是人类运动障碍的责任基因的良好候选者。

I identified and analyzed eight zebrafish mutants, which have defects in locomotion and behavior. For instance, mutant mi310 harbored a point mutation in PIG-U gene, which is necessary for biogenesis of GPI-anchored proteins. In mutants, GPI-anchored proteins were not generated and surface expression of voltage-gated sodium channels was perturbed, leading to loss of action potentials. As a consequence, mutant zebrafish did not show escape behavior due to hypofunction of primary sensory neurons. The corresponding gene in human is a good candidate for a responsible gene for a human motor disorder.