Dipartimento di Biologia, Università degli Studi di Milano, Milan, Italy.
PLoS One. 2012;7(2):e31851. doi: 10.1371/journal.pone.0031851. Epub 2012 Feb 22.
Axon pathfinding is a subfield of neural development by which neurons send out axons to reach the correct targets. In particular, motoneurons extend their axons toward skeletal muscles, leading to spontaneous motor activity. In this study, we identified the zebrafish Ccdc80 and Ccdc80-like1 (Ccdc80-l1) proteins in silico on the basis of their high aminoacidic sequence identity with the human CCDC80 (Coiled-Coil Domain Containing 80). We focused on ccdc80-l1 gene that is expressed in nervous and non-nervous tissues, in particular in territories correlated with axonal migration, such as adaxial cells and muscle pioneers. Loss of ccdc80-l1 in zebrafish embryos induced motility issues, although somitogenesis and myogenesis were not impaired. Our results strongly suggest that ccdc80-l1 is involved in axon guidance of primary and secondary motoneurons populations, but not in their proper formation. ccdc80-l1 has a differential role as regards the development of ventral and dorsal motoneurons, and this is consistent with the asymmetric distribution of the transcript. The axonal migration defects observed in ccdc80-l1 loss-of-function embryos are similar to the phenotype of several mutants with altered Hedgehog activity. Indeed, we reported that ccdc80-l1 expression is positively regulated by the Hedgehog pathway in adaxial cells and muscle pioneers. These findings strongly indicate ccdc80-l1 as a down-stream effector of the Hedgehog pathway.
轴突导向是神经发育的一个分支领域,通过该领域神经元可以发出轴突到达正确的靶标。具体来说,运动神经元将其轴突延伸到骨骼肌,从而导致自发性运动活动。在这项研究中,我们根据与人类 CCDC80(卷曲螺旋域包含 80)的高氨基酸序列同一性,在计算机上鉴定了斑马鱼的 Ccdc80 和 Ccdc80-like1(Ccdc80-l1)蛋白。我们专注于 ccdc80-l1 基因,该基因在神经组织和非神经组织中表达,特别是在与轴突迁移相关的区域表达,如顶细胞和肌肉先驱细胞。斑马鱼胚胎中 ccdc80-l1 的缺失会引起运动问题,尽管体节形成和肌发生不受影响。我们的结果强烈表明,ccdc80-l1 参与初级和次级运动神经元群体的轴突导向,但不参与其正确形成。ccdc80-l1 在腹侧和背侧运动神经元的发育中具有不同的作用,这与转录本的不对称分布一致。在 ccdc80-l1 功能丧失胚胎中观察到的轴突迁移缺陷与 Hedgehog 活性改变的几种突变体的表型相似。事实上,我们报告称,ccdc80-l1 的表达在顶细胞和肌肉先驱细胞中受到 Hedgehog 途径的正向调节。这些发现强烈表明 ccdc80-l1 是 Hedgehog 途径的下游效应物。