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Science 7 July 1989:
Vol. 245. no. 4913, pp. 63 - 66
DOI: 10.1126/science.2544997
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Articles

Science, Vol 245, Issue 4913, 63-66
Copyright © 1989 by American Association for the Advancement of Science

articles

Human diabetes associated with a deletion of the tyrosine kinase domain of the insulin receptor

M Taira, M Taira, N Hashimoto, F Shimada, Y Suzuki, A Kanatsuka, F Nakamura, Y Ebina, M Tatibana, H Makino, and al. et

Second Department of Internal Medicine, Chiba University School of Medicine, Inohana, Japan.

The insulin receptor has an intrinsic tyrosine kinase activity that is essential for signal transduction. A mutant insulin receptor gene lacking almost the entire kinase domain has been identified in an individual with type A insulin resistance and acanthosis nigricans. Insulin binding to the erythrocytes or cultured fibroblasts from this individual was normal. However receptor autophosphorylation and tyrosine kinase activity toward an exogenous substrate were reduced in partially purified insulin receptors from the proband's lymphocytes that had been transformed by Epstein-Barr virus. The insulin resistance associated with this mutated gene was inherited by the proband from her mother as an apparently autosomal dominant trait. Thus a deletion in one allele of the insulin receptor gene may be at least partly responsible for some instances of insulin-resistant diabetes.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Insulin resistance and increased pancreatic {beta}-cell proliferation in mice expressing a mutant insulin receptor (P1195L)..
J Ogino, K Sakurai, K Yoshiwara, Y. Suzuki, N Ishizuka, N Seki, Y. Suzuki, H Koseki, T Shirasawa, N Hashimoto, et al. (2006)
J. Endocrinol. 190, 739-747
   Abstract »    Full Text »    PDF »
Maturity-Onset Diabetes of the Young Caused by a Balanced Translocation Where the 20q12 Break Point Results in Disruption Upstream of the Coding Region of Hepatocyte Nuclear Factor-4{alpha} (HNF4A) Gene.
A. L. Gloyn, S. Ellard, M. Shepherd, R. T. Howell, E. M. Parry, A. Jefferson, E. R. Levy, and A. T. Hattersley (2002)
Diabetes 51, 2329-2333
   Abstract »    Full Text »    PDF »
Dominant and recessive mutations define functional domains of Toll, a transmembrane protein required for dorsal-ventral polarity in the Drosophila embryo..
D S Schneider, K L Hudson, T Y Lin, and K V Anderson (1991)
Genes & Dev. 5, 797-807
   Abstract »    PDF »
W mutant mice with mild or severe developmental defects contain distinct point mutations in the kinase domain of the c-kit receptor..
A D Reith, R Rottapel, E Giddens, C Brady, L Forrester, and A Bernstein (1990)
Genes & Dev. 4, 390-400
   Abstract »    PDF »
Molecular defects in insulin action.
C. Kahn and B. Goldstein (1989)
Science 245, 13
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Science. ISSN 0036-8075 (print), 1095-9203 (online)