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

人胰岛素受体基因的结构、基因表达调控及其异常

• 批准号: 61480131
• 负责人: EBINA Yousuke
• 金额: $ 3.97万
• 依托单位: Tokushima Univ. (1988)Kumamoto University (1986-1987)
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for General Scientific Research (B)
• 财政年份: 1986
• 资助国家: 日本
• 起止时间: 1986 至 1988
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-61480131/
• 关键词: Human insulin receptor gene; Regulation of the gene expression; 糖尿病; プロモーター; インスリン受容体; チロシンキナーゼ; インスリン作用機構; インスリン受容体遺伝子; site directed mutagenesis

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.

1.人胰岛素受体结构与功能的关系及其在糖尿病中的异常分析我们已经报道了人胰岛素受体的一级结构及其受体亚基的酪氨酸激酶对胰岛素信号转导是必不可少的。我们新报告了一个胰岛素抵抗型糖尿病患者，其胰岛素受体基因的一个等位基因中的大部分酪氨酸激酶结构域缺失。该综合征为母婴遗传，具有明显的常染色体显性遗传特征.人胰岛素受体基因表达的调节。我们已经报道了人胰岛素受体基因的启动子结构和位于-600 bp的四个G-C盒刺激转录10次。我们已经确定了这些G-C盒的Sp1转录激活因子的结合。

项目成果

Ebina Y. et al.: "Replacement of lysine residue 1030 in the putative ATP binding region of the insulin receptor abolishes insulin- and antibody-stimulated glucose uptake and receptor kinase activity" Proc. Natl. Acad. Sci. USA. 84. 704-708 (1987)

Ebina Y. 等人：“胰岛素受体推定 ATP 结合区域中赖氨酸残基 1030 的替换消除了胰岛素和抗体刺激的葡萄糖摄取和受体激酶活性”Proc。

Ebina,Y.;et al.: Proc.Natl.Acad.Sci.USA. 84. 704-708 (1987)

Ebina，Y.；等人：Proc.Natl.Acad.Sci.USA。

Taira,M.;Ebina,Y.;et al.: Nature.

Taira,M.；Ebina,Y.；等：自然。

蛯名洋介: 代謝. 24. 33-40 (1987)

海老名洋介：新陈代谢。24. 33-40 (1987)

Araki,E.;Ebina,Y.;et al.: Nucleic Acids.Res.16. 1627 (1988)

Araki,E.；Ebina,Y.；等人：Nucleic Acids.Res.16。