Institute of Experimental Neurology (INSPE), Division of Neuroscience; 2 Department of Neurology; and 3 Division of Immunology, Transplantation, and Infectious Disease; San Raffaele Scientific Institute, 20132 Milan, Italy.
J Exp Med. 2014 Jan 13;211(1):29-43. doi: 10.1084/jem.20130720. Epub 2013 Dec 16.
Axonal sorting is a crucial event in nerve formation and requires proper Schwann cell proliferation, differentiation, and contact with axons. Any defect in axonal sorting results in dysmyelinating peripheral neuropathies. Evidence from mouse models shows that axonal sorting is regulated by laminin211- and, possibly, neuregulin 1 (Nrg1)-derived signals. However, how these signals are integrated in Schwann cells is largely unknown. We now report that the nuclear Jun activation domain-binding protein 1 (Jab1) may transduce laminin211 signals to regulate Schwann cell number and differentiation during axonal sorting. Mice with inactivation of Jab1 in Schwann cells develop a dysmyelinating neuropathy with axonal sorting defects. Loss of Jab1 increases p27 levels in Schwann cells, which causes defective cell cycle progression and aberrant differentiation. Genetic down-regulation of p27 levels in Jab1-null mice restores Schwann cell number, differentiation, and axonal sorting and rescues the dysmyelinating neuropathy. Thus, Jab1 constitutes a regulatory molecule that integrates laminin211 signals in Schwann cells to govern cell cycle, cell number, and differentiation. Finally, Jab1 may constitute a key molecule in the pathogenesis of dysmyelinating neuropathies.
轴索分拣是神经形成的关键事件,需要施万细胞的适当增殖、分化,并与轴索接触。轴索分拣的任何缺陷都会导致脱髓鞘周围神经病变。来自小鼠模型的证据表明,轴索分拣受层粘连蛋白 211 和(可能)神经调节蛋白 1(Nrg1)衍生信号的调节。然而,这些信号在施万细胞中是如何整合的还知之甚少。我们现在报告,核 Jun 激活域结合蛋白 1(Jab1)可能转导层粘连蛋白 211 信号,以调节轴索分拣过程中的施万细胞数量和分化。施万细胞中 Jab1 失活的小鼠会发生脱髓鞘性神经病,伴有轴索分拣缺陷。Jab1 的缺失会增加施万细胞中的 p27 水平,导致细胞周期进程缺陷和异常分化。Jab1 缺失小鼠中 p27 水平的遗传下调可恢复施万细胞数量、分化和轴索分拣,并挽救脱髓鞘性神经病。因此,Jab1 构成了一种调节分子,可整合施万细胞中的层粘连蛋白 211 信号,以调节细胞周期、细胞数量和分化。最后,Jab1 可能是脱髓鞘性神经病发病机制中的关键分子。