对X链卡尔曼综合征的候选基因编码了一种与粘附分子相关的蛋白质
R Legouis1, J P Hardelin, J Levilliers
1Institut Pasteur Unité de Génétique Moléculaire Humaine (CNRS URA 1445), Paris, France.
Cell
|October 18, 1991
概括
卡尔曼综合征,一种导致性性性性和厌氧的疾病,与对胚胎神经元迁移至关重要的缺陷基因 (ADMLX) 有关. 这项研究确定了患者的基因中断,支持其在疾病中的作用.
科学领域:
- 遗传学 是一个遗传学.
- 神经科学是一个神经科学.
- 内分泌学 在内分泌学.
背景情况:
- 卡尔曼综合征的特点是低性性性性性性性性和厌氧性.
- 假设这种情况是由于嗅觉和GnRH合成神经元的胚胎迁移受损的结果.
- 卡尔曼基因此前已定位在染色体Xp22.3.3区域.
研究的目的:
- 为了确定负责卡尔曼综合征的特定基因.
- 调查卡尔曼综合征患者中神经元迁移缺陷的遗传基础.
主要方法:
- 来自Xp22.3区域的67kb基因组DNA的测序.
- 使用多参数计算机程序识别候选外型子.
- 对卡尔曼综合征患者的基因结构和突变的分析.
主要成果:
- 确定了两个候选外型子,形成一个编码679-氨基酸蛋白的cDNA (ADMLX).
- ADMLX基因在一个患者的3'编码区域中断,在另一个患者的5'末端删除.
- 预测的ADMLX蛋白与纤维素三型重复蛋白具有同质性,这表明它作为粘附分子的作用.
结论:
- ADMLX是卡尔曼综合征的强有力的候选基因.
- 在ADMLX中发现的突变为卡尔曼综合征中观察到的缺陷胚胎神经元迁移提供了分子解释.
- ADMLX可能作为参与神经发育的细胞粘附分子起作用.
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