Stoffel M, Espinosa R, Keller S R, Lienhard G E, Le Beau M M, Bell G I
Howard Hughes Medical Institute, Department of Biochemistry, Chicago, Illinois.
Diabetologia. 1993 Apr;36(4):335-7. doi: 10.1007/BF00400237.
The protein designated as insulin receptor substrate-1 (IRS-1) is a major substrate for the insulin receptor tyrosine kinase. Since post-receptor defects in the insulin signalling pathway are a common feature of Type 2 (non-insulin-dependent) diabetes mellitus, we have cloned the human IRS-1 gene in order to study the role of genetic variation in this gene in the pathogenesis of diabetes mellitus. As a first step in these studies, we have mapped the IRS-1 gene to chromosome 2, bands q35-q36.1 and identified a simple tandem repeat DNA polymorphism in this gene that will be useful for genetic studies.
被命名为胰岛素受体底物-1（IRS-1）的蛋白质是胰岛素受体酪氨酸激酶的主要底物。由于胰岛素信号通路中的受体后缺陷是2型（非胰岛素依赖型）糖尿病的一个常见特征，我们克隆了人类IRS-1基因，以便研究该基因的遗传变异在糖尿病发病机制中的作用。作为这些研究的第一步，我们已将IRS-1基因定位到2号染色体的q35-q36.1带，并在该基因中鉴定出一种简单串联重复DNA多态性，这将有助于遗传研究。
