Structure and the regulation of the gene expression of the human insulin receptor gene and its abnormalities

1. 糖尿病人胰岛素受体结构-功能关系及异常分析。我们已经报道了人胰岛素受体的初级结构及其受体亚基的酪氨酸激酶对胰岛素信号转导至关重要。我们新报告了一位胰岛素抵抗性糖尿病患者，他在胰岛素受体基因的一个等位基因中缺失了大部分酪氨酸激酶结构域。本综合征由母亲遗传给女儿，具有明显的常染色体显性特征。人胰岛素受体基因表达的调控。我们已经报道了人胰岛素受体基因的启动子结构和位于- 600bp的四个G-C盒刺激转录10次。我们已经确定Sp1转录激活因子与这些G-C盒子的结合。

1. Analysis of the structure-function relationship of the human insulin receptor and its abnormality in Diabetes mellitus. We have already reported that the primary structure of the human insulin receptor and that the tyrosine kinase of the subunit of its receptor is essential for insulin signal transduction. We new report a patient with insulin resistant diabetes who has a deletion of a large part of the tyrosine kinase domain in one allele of the insulin receptor gene. This syndrome was transmitted from mother to daughter, with apparently autosomal dominant trait.2. Regulation of the gene expression of the human insulin receptor gene. We have already reported that the promoter structure of the human insulin receptor gene and that the four G-C boxes which are located at -600 bp stimulate the transcription 10 times. We have identified the binding of the Sp1 transcription activating factor to these G-C boxes.