Rugarli E I, Lutz B, Kuratani S C, Wawersik S, Borsani G, Ballabio A, Eichele G
Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030.
Nat Genet. 1993 May;4(1):19-26. doi: 10.1038/ng0593-19.
Kallmann syndrome is a genetic disorder characterized by a defect in olfactory system development, which appears to be due to an abnormality in the migration of olfactory axons and gonadotropin releasing hormone (Gn-RH) producing neurons. The X-linked Kallmann syndrome gene shares significant similarities with molecules involved in neural development. We have now isolated the evolutionarily conserved chicken homologue of the Kallmann gene. In the developing and adult chicken, high levels of expression were found in the mitral cells of the olfactory bulb (the target of olfactory axons) and in the Purkinje cells of the cerebellar cortex, both areas affected in patients with Kallmann syndrome. We propose a model in which the Kallmann syndrome gene product is a signal molecule required for neuronal targeting throughout life.
卡尔曼综合征是一种遗传性疾病，其特征是嗅觉系统发育缺陷，这似乎是由于嗅觉轴突和促性腺激素释放激素（Gn-RH）产生神经元迁移异常所致。X连锁卡尔曼综合征基因与参与神经发育的分子有显著相似性。我们现已分离出卡尔曼基因在进化上保守的鸡同源物。在发育中和成年鸡中，在嗅球的二尖瓣细胞（嗅觉轴突的靶标）和小脑皮质的浦肯野细胞中发现了高水平表达，这两个区域在卡尔曼综合征患者中均受影响。我们提出了一个模型，其中卡尔曼综合征基因产物是终生神经元靶向所需的信号分子。
