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

Masato Odawara, Takashi Kadowaki, Ritsuko Yamamoto, Yoshikazu Shibasaki, Kazuyuki Tobe, Domenico Accili, Charles L Bevins, Yuhei Mikami, Nobuo Matsuura, Yasuo Akanuma, Fumimaro Takaku, Simeon I. Taylor, Masato Kasuga

Research output: Contribution to journalArticle

158 Scopus citations

Abstract

Insulin receptor complementary DNA has been cloned from an insulin-resistant individual whose receptors have impaired tyrosine protein kinase activity. One of this individual's alleles has a mutation in which valine is substituted for Gly996, the third glycine in the conserved Gly-X-Gly-X-X-Gly motif in the putative binding site for adenosine triphosphate. Expression of the mutant receptor by transfection into Chinese hamster ovary cells confirmed that the mutation impairs tyrosine kinase activity.

Original languageEnglish (US)
Pages (from-to)66-68
Number of pages3
JournalScience
Volume245
Issue number4913
StatePublished - 1989
Externally publishedYes

ASJC Scopus subject areas

  • General

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