Insulin receptor gene

Insulin receptor gene cloned and mapped to chromosome 19p 13.2-13.3 5... 

KadowakiT, Bevins CL, Cama A, Ojamaa K, Marcus-Samuels B, Kadowaki H, Beitz L, McKeon C, Taylor SI. Two mutant alleles of the insulin receptor gene in a patient with extreme insulin resistance. Science 1988 240 787-790. 

A few patients with homozygous mutations in the insulin-receptor gene have been described this causes Donohue syndrome or leprechaunism. This autosomal recessive disorder results in a totally non-functional insulin receptor. 

R L. Joshi, B. Lamothe, N. Cordonnier, K. Mesbah, E. Monthioux, J. Jami, and D. Bucchim. Targeted disruption of the insulin receptor gene in the mouse results in neonatal lethality. EMBOJ, IS, 1542-1547,... 

D. Accili, J. Drago, E. J. Lee, M. D. Johnson, M. Cool, P. Salvatore et oL Eariy neonatal death in mice homozygous for a null allele of the insulin receptor gene. Nature, Genet, 12, 106-109, 1996. 

The Insulin Receptor Gene and Insulin Receptor Processing. 27... 

THE INSULIN RECEPTOR GENE AND INSULIN RECEPTOR PROCESSING... 

Examples of disorders caused by mutations in the insulin receptor gene are leprechaunism and type A insulin resistance. A severe form of leprechaunism is due to mutations in both alleles of the insulin receptor gene. These patients exhibit insulin resistance, intrauterine growth retardation, and many other metabolic abnormalities. Patients with type A insulin resistance exhibit insulin... 

This group of disorders is relatively uncommon and include mutations in genes that affect various aspects of 6-cell function including mitochondrial DNA and the insulin receptor gene these disorders have been discussed earlier. 

Sibley, E. Kastelic, T. Kelly, T.J. Lane, M.D. Characterization of the mouse insulin receptor gene promoter. Proc. Natl. Acad. Sci. USA, 86, 9732-9736 (1989)... 

Gene expression may also be affected post-transcriptionally by altering mRNA levels. The insulin receptor has at least two splice variants termed type A or B. Exon 11 in the insulin receptor gene is spliced from the mRNA in the Type A variant and is associated with hyperinsulinemia. Over 30,000 alternative splice sites have been identified in a genome-wide analysis of humans, although functional polymorphisms at these sites have yet to be fully characterized. 

Maestro, B., Davila, N., Carranza, M. C., Calle, C. 2003. Identification of a vitamin D response element in the human insulin receptor gene promoter. J Steroid Biochem Mol Biol, 84 223-30. 

Maestro, B., Molero, S., Bajo, S., DavUa, N., Calle, C. 2002. Transcriptional activation of the human insulin receptor gene by 1,25-dihydroxyvitamin D(3). Cell Biochem Funct, 20 227-32. 

Accili, D. and Taylor, S. I. Targeted inactivation of the insulin receptor gene in mouse 3T3-L1 fibroblasts via homologous recombination. Proc. Natl Acad Sci USA, 1991, 88, 4708-4712. 

Akt is activated by binding of plasma membrane phospholipids downstream of insulin receptors, growth and survival factor receptors in a phosphoinositide 3-kinases dependent manner. In humans, there are three genes in the Akt family Aktl, Akt2 and Akt3. Their respective fimctions are still under investigation. 

Kirkpatrick RB, Matico RE, McNulty DE, Strickler JE, Rosenberg M 1995 An abundantly secreted glycoprotein from Drosophila melanogaster is related to mammalian secretory proteins produced in rheumatoid tissues and by activated macrophages. Gene 153 147-154 Leconte I, Carpentier JL, Clauser E 1994 The functions of the human insulin receptor are affected in different ways by mutation of each of the four N-glycosylation sites in the fl subunit. J Biol Chem 269 18062-18071... 

Sulfonylurea receptor 1 (SUR1) Sulfonylurea (tolbutamide) Decreased tolbutamide-stimulated insulin secretion in healthy subjects with sequence variants in the high-affinity sulfonylurea receptor gene (94) Susceptibility to type II diabetes (95)... 

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