Human diabetes associated with defects in nuclear regulatory proteins for the insulin receptor gene

Journal of Clinical Investigation

Volumn 97, Issue 1, 1996, Pages 258-262

  Brunetti, Antonio ^a,d   Brunetti, Leonardo ^b   Foti, Daniela ^b   Accili, Domenico ^c   Goldfine, Ira O ^b  

^a UNIVERSITY MEDITERRANEA OF REGGIO CALABRIA   (Italy)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

^d Policlinico Mater Domini   (Italy)

Author keywords

gene transcription; insulin receptor; insulin resistance; non insulin dependent diabetes mellitus; trans acting factors

Indexed keywords

DNA BINDING PROTEIN; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; INSULIN; INSULIN RECEPTOR;

ADULT; ARTICLE; CASE REPORT; GENE EXPRESSION; HUMAN; HUMAN CELL; INSULIN RESISTANCE; LYMPHOBLAST; MALE; NON INSULIN DEPENDENT DIABETES MELLITUS; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 0030048931     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI118400     Document Type: Article

References (40)

1. Reaven, G M. 1988. Banting lecture, role of insulin resistance in human disease. Diabetes. 37:1595-1607.
2. Olefsky, J. M. 1980. Insulin resistance and insulin action. An in vitro and in vivo perspective. Diabetes. 30:148-162.
3. Eriksson, J., A. Franssila-Kallunki, A. Ekstrand, C. Saloranta, E. Widen, C. Schalin, and L. Groop. 1989. Early metabolic defects in persons at increased risk for non-insulin-dependent diabetes mellitus N. Engl J. Med. 321:337-343.
4. Warram, J. H., B. C. Martin, A S. Krolewski, J. S. Soeldner, and C. R. Kahn. 1990 Slow glucose removal rate and hyperinsulinemia precede the development of type II diabetes in the offspring of diabetic parents. Ann. Intern Med. 113:909-915
5. Zimmet, P. Z. 1992. Kelly West Lecture 1991. Challenges in diabetes epidemiology from west to the rest. Diabetes Care. 15:232-252.
6. Bogardus, C. 1993. Insulin resistance in the pathogenesis of NIDDM in Pima Indians. Diabetes Care. 16:228-231.
7. Goldfine, I. D. 1987. The insulin receptor: molecular biology and transmembrane signalling. Endocr. Rev 8:235-255.
8. Czech, M. P. 1985. The nature and regulation of insulin receptor: structure and function. Annu. Rev. Physiol 47:357-381.
9. White, M. F., S E. Shoelson, H. Keutmann, and C. R Kahn. 1988 A cascade of tyrosine autophosphorylation in the beta-subunit activates the phosphotransferase of the insulin receptor. J Biol. Chem 263:2969-2980.
10. Taylor, S. I 1992, Lilly lecture: molecular mechanisms of insulin resistance. Lessons from patients with mutations hi the insulin-receptor gene Diabetes. 41:1473-1490.
11. Kahn, C. R., J. S. Flier, R. S. Bar, J. A. Archer, P. Gorden, M. M. Martin, and J. Roth. 1976. The syndromes of insulin resistance and acanthosis nigricans: insulin-receptor disorders in man. N. Engl. J. Med. 294:739-745.
12. Moller, D. E., and J S. Flier. 1988. Detection of an alteration in the insulin-receptor gene in a patient with insulin resistance, acanthosis nigricans, and the polycystic ovary syndrome (Type A insulin resistance). N. Engl J. Med 319: 1526-1529.
13. Imano, E., II. Kadowaki, T. Kadowaki, N. Iwama, T Watarai, R. Kawamori, T. Kamada, and S I. Taylor. 1990 Two patients with insulin resistance due to decreased levels of insulin-receptor mRNA Diabetes 40:548-557.
14. Taylor, S. I., A. Cama, D. Accili, F Barbetti, M. J. Quon, M L Sierra, Y. Suzuki, E. Koller, R. Levy-Toledano. E. Wertheimer, et al. 1992. Mutations in the insulin receptor gene. Endocr. Rev. 13:566-595.
15. Ojamaa, K., J. A. Hedo, C. T. Roberts, P Gorden. A Ullrich, and S. I. Taylor 1988. Defects in human insulin receptor gene expression Mol Endocrinol 2:242-247.
16. Yamamoto, K. R. 1985. Steroid receptor regulated transcription of specific genes and gene networks. Ann Rev. Genet. 19:209-215
17. Schleif, R. 1988 DNA binding by proteins. Science (Wash. DC). 241: 1182-1187.
18. Mitchell, P J , and R. Tjian. 1989. Transcriptional regulation in mammalian cells by sequence-specific DNA binding proteins Science (Wash DC). 245:371-378
19. Seino, S., M Seino, S. Nishi, and G. I Bell. 1989. Structure of the human insulin receptor gene and characterization of its promoter Proc. Natl Acad. Sci. USA. 86:114-118.
20. Sibley, E., T. Kastelic, T. J. Kelly and M D, Lane. 1989 Characterization of the mouse insulin receptor gene promoter. Proc. Nail. Acad Sci USA 86-9732-9736.
21. Levy, J. R., and V. Hug 1993. Nuclear protein-binding analysis of a GC-rich insulin-receptor promoter regulatory region. Diabetes 42.66-73.
22. Mamula, P W., K Y. Wong, B. A. Maddux, A. R. McDonald, and I. D. Goldfine. 1989 Sequence and analysis of promoter region of human insulinreceptor gene Diabetes 37:1241-1246
23. Araki, E., F. Shimada, H. Uzawa, M. Mori, and Y. Ebina. 1987. Characterization of the promoter region of the human insulin receptor gene. J. Biol. Chem. 262:16186-16191
24. Tewari, D. S., D. M. Cook, and R. Taub. 1989. Characterization of the promoter region and 3′-end of the human insulin receptor gene. J Biol Chem 264:16238-16245
25. Seino, S., M. Seino, and G I. Bell 1990. Human insulin-receptor genepartial sequence and amplification of exons by polymerase chain reaction. Diabetes. 39:123-128.
26. Lee, J. K., J. W. O Tam. M J. Tsai, and S. Y Tsai 1992. Identification of cis- and trans-acting factors regulating the expression of the human insulin receptor gene. J. Biol Chem. 267:4638-4645
27. McKeon, C., V. Moncada, T. Pham, P. Salvatore, T. Kadowaki, D. Accili, and S. I. Taylor. 1990 Structural and functional analysis of the insulin receptor promoter. Mol Endocrinol. 4:647-656.
28. Webster, N. J. G., Y. Kong, K. E. Cameron, and J. L. Resnik. 1994. An upstream element from the human insulin receptor gene promoter contains binding sites for C/EBPb and NF-1. Diabetes. 43:305-312.
29. Brunetti, A., D. Foti, and I. D. Goldfine. 1993. Identification of unique nuclear regulatory proteins for the insulin receptor gene, which appear during myocyte and adypocyte differentiation. J. Clin. Invest. 92:1288-1295.
30. Goldfine, I. D. 1981. Effects of insulin on intracellular functions. In Biochemical Actions of Hormones. Vol. 8. G Litwach, editor Academic Press, Inc. New York. 272-305.
31. Sambrook, J., E F. Fritsch, and T. Maniatis. 1989 Molecular Cloning: A Laboratory Manual. Cold Spring Harbor Laboratory, Cold Spring Harbor. NY. 9.31-9.58.
32. Goodman, P. A., P. Sbraccia, A. Brunetti, K. Y. Wong, J. D. Carter, S. M. Rosenthal, and I. D. Goldfine, 1992 Growth factor receptor regulation in the minn-1 leprechaun: defects in both insulin receptor and epidermal growth factor receptor gene expression. Metab. Clin. Exp. 41:504-509.
33. Taylor, S. I., J. Roth, R. M. Blizzard, and M. J. Elders. 1981. Qualitative abnormalities in insulin binding in a patient with extreme insulin resistance: decreased sensitivity to alterations in temperature and pH. Proc. Natl. Acad. Sci. USA. 78:7157-7161.
34. Brunetti, A., B. A. Maddux, K. Y. Wong, and I. D. Goldfine. 1989. Muscle cell differentiation is associated with increased insulin receptor biosynthesis and messenger RNA levels. J. Clin. Invest. 83:192-198.
35. Dignam, J D . R. M. Lebovitz, and R. G. Roeder. 1983. Accurate transcription by RNA polymerase II in a soluble extract from isolated mammalian nuclei. Nucleic Acids Res. 11:1475-1489.
36. Bradford, M. M 1976. A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Anal Biochem. 72 248-254.
37. O'Neill, E. A., C. Fletcher, C. R Burrow, N. Hentz, R. G. Roeder, and T. J. Kelly. 1988. Transcription factor OTF-1 is functionally identical to the DNA replication factor NF-III. Science (Wash. DC). 241:1210-1213.
38. Lenardo, M. J , and D. Baltimore. 1989. NF-kappa B: a pleotropic mediator of inducible and tissue-specific gene control. Cell. 58:227-229.
39. Tatsmni, K., K. Miyai, T. Notomi, K. Kaibe. N. Amino, Y. Mizuno, and H. Kohno. 1992. Cretinism with combined hormone deficiency caused by a mutation in the Pit-1 gene. Nat. Genet. 1:56-59.
40. Li, S., I. B. Crenshaw, E J. Rawson. D. M. Simmons, L. W. Swanson, and M. G. Rosenfeld. 1990. Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene pit-1. Nature (Lond. ). 347:528-533.