Tubulin Beta 4a in central nervous system development and disease

神经系统的发育和功能严重依赖于其基于微管的 细胞骨架微管由多种α-和β-微管蛋白同种型组装而成，这些同种型由 独立的进化保守基因最近，Tubulin β 4a（Tubb 4a）的突变已被发现。 通过测序研究发现，与患者的神经系统疾病谱相关。基因突变 Tubb 4a基因导致这些疾病尚不清楚。我们已经生成了一个与Tubb 4a相关的小鼠模型， 从遗传筛查中发现的发育障碍我们的研究将有助于深入了解 人类疾病谱，以及微管的作用的基本信息， 哺乳动物的神经发育和功能。

Nervous system development and function is critically dependent upon its microtubule-based cytoskeleton. Microtubules are assembled from multiple α- and ß-tubulin isotypes which are encoded by separate, evolutionarily conserved genes. Recently, mutations in the Tubulin ß4a (Tubb4a) have been associated with a spectrum of neurological disorders in patients by sequencing studies. How mutations in the Tubb4a gene cause these disorders is not understood. We have generated a mouse model for Tubb4a-related developmental disorders from a forward genetic screen. Our studies will lead to insights into the mechanisms of the human disease spectrum, as well as to fundamental information on the role of microtubules in mammalian neural development and function.