Analyses of pathophysiology for molecules causing mental retardation

A2BP1与多种神经和发育障碍有关。本研究制备了A2BP1特异性抗体，并在啮齿动物脑组织中进行了蛋白表达和定位分析。A2BP1在大脑中以发育阶段依赖的方式表达。在皮质神经元中，A2BP1主要积聚在细胞核中，弥漫性分布在细胞体和树突中。在大鼠海马神经元中，A2BP1在突触附近的点状分布中发现。在皮质发生过程中，A2BP1基因的下调导致了异常的神经元迁移。我们对极性相关蛋白Lin7进行了类似的分析，发现了Lin7在皮质生成中的重要性。

A2BP1 is implicated in a variety of neurological and developmental disorders. We here prepared a specific antibody against A2BP1 and did protein expression and localization analyses in rodent brain tissues. A2BP1 was expressed in developmental stage-dependent manners in the brain. In cortical neurons, A2BP1 was accumulated mainly in the nucleus and diffusely distributed in the cell body and dendrites. In rat hippocampal neurons, while A2BP1 was found in a punctate distribution adjacent to synapses. Knockdown of A2BP1 caused abnormal neuronal migration during corticogenesis. We did similar analyses as for a polarity-related protein, Lin7, and found the importance of Lin7 in corticogenesis.