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

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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.