A GENE DELETED IN KALLMANNS SYNDROME SHARES HOMOLOGY WITH NEURAL CELL-ADHESION AND AXONAL PATH-FINDING MOLECULES
A GENE DELETED IN KALLMANNS SYNDROME SHARES HOMOLOGY WITH NEURAL CELL-ADHESION AND AXONAL PATH-FINDING MOLECULES
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DOI：
10.1038/353529a0
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发表时间：
1991-10-10
期刊：
影响因子：
64.8
通讯作者：
BALLABIO, A
中科院分区：
文献类型：
--
作者：
FRANCO, B;GUIOLI, S;BALLABIO, A
卡尔曼综合征（临床特征为低促性腺激素性性腺功能减退和嗅觉丧失）是由嗅觉神经元和产生下丘脑促性腺激素释放激素的神经元迁移缺陷引起的。 现在已经从Xp22.3上的关键区域分离出一个基因，该基因已被分配到综合征位点：该基因逃避X失活，在Y染色体上具有同源物，并显示出跨物种的不寻常的保守模式。 预测的蛋白质与参与神经细胞粘附和轴突寻路的蛋白质以及蛋白激酶和磷酸酶具有显著的相似性，这表明该基因可能在神经元迁移中具有特定的作用。
Kallmann's syndrome (clinically characterized by hypogonadotropic hypogonadism and inability to smell) is caused by a defect in the migration of olfactory neurons, and neurons producing hypothalamic gonadotropin-releasing hormone. A gene has now been isolated from the critical region on Xp22.3 to which the syndrome locus has been assigned: this gene escapes X inactivation, has a homologue on the Y chromosome, and shows an unusual pattern of conservation across species. The predicted protein has significant similarities with proteins involved in neural cell adhesion and axonal pathfinding, as well as with protein kinases and phosphatases, which suggests that this gene could have a specific role in neuronal migration.