Hypogonadotropic hypogonadism and peripheral neuropathy in Ebf2-null mice
Hypogonadotropic hypogonadism and peripheral neuropathy in Ebf2-null mice
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DOI：
10.1242/dev.00215
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发表时间：
2003-01-01
期刊：
影响因子：
4.6
通讯作者：
Consalez, GG
中科院分区：
文献类型：
--
作者：
Corradi, A;Croci, L;Consalez, GG
Olf/Ebf转录因子参与了从B细胞发育到神经元分化的许多发育过程。我们描述了携带EbJ 2（O/E3）基因内靶向缺失的小鼠。在Ebf 2缺失突变体中，由于促性腺激素释放激素合成神经元的迁移缺陷，神经内分泌轴（青春期发育所必需的）的形成受损，导致继发性性腺功能减退。此外，Ebf 2（-/-）周围神经的特征是轴突分类缺陷、髓鞘形成不足、节段性髓鞘形成障碍和轴突损伤，并伴有运动神经传导速度的急剧下降。Ebf 2基因敲除小鼠揭示了低促性腺激素性腺功能减退症和周围神经病变的一种新的遗传原因，揭示了Ebf 2在神经元迁移和神经发育中的重要作用。
Olf/Ebf transcription factors have been implicated in numerous developmental processes, ranging from B-cell development to neuronal differentiation. We describe mice that carry a targeted deletion within the EbJ2 (O/E3) gene. In Ebf2-null mutants, because of defective migration of gonadotropin releasing hormone-synthesizing neurons, formation of the neuroendocrine axis (which is essential for pubertal development) is impaired, leading to secondary hypogonadism. In addition, Ebf2(-/-) peripheral nerves feature defective axon sorting, hypomyelination, segmental dysmyelination and axonal damage, accompanied by a sharp decrease in motor nerve conduction velocity. Ebf2-null mice reveal a novel genetic cause of hypogonadotropic hypogonadism and peripheral neuropathy in the mouse, disclosing an important role for Ebf2 in neuronal migration and nerve development.