Gene technology, characterization of insulin gene and the relationship to diabetes research.
The development and introduction of modern molecular biological methods was a prerequisite to the characterization of the insulin gene. The transfer of chemically synthesized genes for human insulin A and B chains as well as the naturally occurring rat insulin gene into bacteria opened possibilities to produce insulin in bacterial systems. Moreover, the structure of rat I and rat II insulin genes as well as human insulin gene were determined. Structural analysis of human insulin genes isolated from a human chromosomal gene library led to the identification of allelic variants of a single human insulin gene. The human insulin gene is located on the short arm of chromosome 11. The hypothesis that structurally abnormal insulin could play a role in the development of diabetes mellitus could be proved in clinical practice. Human insulin isolated from a diabetic patient showed an abnormality in the amino acid sequence and a decreased biological activity of the hormone. This finding demonstrates that in certain cases of diabetes mellitus the synthesis of structurally abnormal insulin due to a mutation in the insulin gene can be the cause for the development of relative insulin deficiency and hyperglycaemia.
D000595:Amino Acid Sequence; D000818:Animals; D001419:Bacteria / Q000235:genetics / Q000378:metabolism; D004269:DNA, Bacterial; D004274:DNA, Recombinant; D003920:Diabetes Mellitus / Q000209:etiology / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007328:Insulin / Q000032:analysis / Q000096:biosynthesis / Q000235:genetics*; D008967:Molecular Biology; D051381:Rats
D004269:DNA, Bacterial; D004274:DNA, Recombinant; D007328:Insulin