A homozygous kinase-defective mutation in the insulin receptor gene in a patient with leprechaunism

Diabetologia

Volumn 40, Issue 4, 1997, Pages 412-420

  Takahashi, Y ^a,b   Kadowaki, H ^b   Momomura, K ^a   Fukushima, Y ^c   Orban, T ^d   Okai, T ^a   Taketani, Y ^a   Akanuma, Y ^b   Yazaki, Y ^a   Kadowaki, T ^a  

^a UNIVERSITY OF TOKYO   (Japan)

^b INSTITUTE FOR ADULT DISEASES   (Japan)

^c SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

^d TAWAM HOSPITAL   (United Arab Emirates)

Author keywords

genotype; insulin resistance syndrome; mutation; phenotype; tyrosine kinase

Indexed keywords

INSULIN RECEPTOR; PROTEIN TYROSINE KINASE; SOMATOMEDIN;

ARTICLE; CASE REPORT; CELL CULTURE; DNA SYNTHESIS; ENZYME ACTIVITY; FIBROBLAST; GENE MUTATION; GENOTYPE; GLUCOSE TRANSPORT; HOMOZYGOSITY; HUMAN; IN VITRO STUDY; IN VIVO STUDY; INSULIN RESISTANCE; LEPRECHAUNISM; LYMPHOCYTE; MALE; MUTAGENESIS; PHENOTYPE; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL;

ADULT; AMNIOCENTESIS; ANIMALS; CELLS, CULTURED; CHO CELLS; CRICETINAE; DNA; FEMALE; FIBROBLASTS; GLYCOGEN SYNTHASE; GROWTH DISORDERS; HUMANS; INFANT; INSULIN; INSULIN-LIKE GROWTH FACTOR I; LYMPHOCYTES; MALE; MUTAGENESIS, SITE-DIRECTED; POLYMERASE CHAIN REACTION; PREGNANCY; RECEPTOR, INSULIN; RECOMBINANT PROTEINS; SKIN; SYNDROME; TRANSFECTION;

EID: 0030894965     PISSN: 0012186X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s001250050695     Document Type: Article

References (47)

1. Taylor SI (1992) Molecular mechanism of insulin resistance. Lessons from patients with mutations in the insulin receptor gene. Diabetes 41: 1473-1490
2. Flier JS (1992) Syndromes of insulin resistance. From patient to gene and back again. Diabetes 41: 1207-1219
3. Moller DE, Flier JS (1991) Mechanism of disease: insulin resistance mechanisms, syndromes, and implications. N Engl J Med 325: 938-948
4. O'Rahilly S, Moller DE (1992) Mutant insulin receptors in syndromes of insulin resistance. Clin Endocrinol 36: 121-132
5. Kadowaki T, Bevins CL, Cama A et al. (1988) Two mutant alleles of the insulin receptor gene in a patient with extreme insulin resistance syndrome. Science 240: 787-790
6. Yoshimasa Y, Seino S, Whittaker J et al. (1988) Insulin-resistant diabetes due to a point mutation that prevents insulin receptor processing. Science 240: 784-787
7. Kahn CR, Flier JS, Bar RS et al. (1976) The syndromes of insulin resistance and acanthosis nigricans: insulin receptor disorder in man. N Engl J Med 294: 739-745
8. Moller DE, Cohen O, Yamaguchi Y et al. (1994) Prevalence of mutations in the insulin receptor gene in subjects with features of the type A syndrome of insulin resistance. Diabetes 43: 247-255
9. Moller DE, Flier JS (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
10. Odawara M, Kadowaki T, Yamamoto R et al. (1989) Human diabetes associated with a mutation in the tyrosine kinase domain of the insulin receptor. Science 245: 66-68
11. Kadowaki T, Kadowaki H, Rechler MM et al. (1990) Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance. J Clin Invest 86: 254-264
12. Cama A, Sierra ML, Ottini L et al. (1991) A mutation in the tyrosine kinase domain of the insulin receptor associated with insulin resistance in an obese woman. J Clin Endocrinol Metab 73: 894-901
13. Kim H, Kadowaki H, Sakura H et al. (1992) Detection of mutations in the insulin receptor gene in patients with insulin resistance by analysis of single-stranded conformational polymorphisms. Diabetologia 35: 261-266
14. Taira M, Hashimoto N, Shimada F et al. (1989) Human diabetes associated with a deletion of the tyrosine kinase domain of the insulin receptor. Science 245: 63-66
15. Haruta T, Takata Y, Iwanishi M et al. (1993) Ala1048 → Asp mutation in the kinase domain of insulin receptor causes defective kinase activity and insulin resistance. Diabetes 42: 1837-1844
16. Iwanishi M, Haruta T, Takata Y et al. (1993) A mutation (Trp 1193 → Leu 1193) in the tyrosine kinase domain of the insulin receptor associated with type A syndrome of insulin resistance. Diabetologia 36: 414-422
17. Accili D, Frapier C, Mosthaf L et al. (1989) A mutation in the insulin receptor gene that impairs transport of the receptor to the plasma membrane and causes insulin-resistant diabetes. EMBO J 8: 2509-2517
18. Shimada F, Taira M, Suzuki Yet al. (1990) Insulin-resistant diabetes associated with partial deletion of insulin-receptor gene. Lancet 335: 1179-1181
19. Kusari J, Takata Y, Hatada E, Freidenberg G, Kolterman O, Olefsky JM (1991) Insulin resistance and diabetes due to different mutation in the tyrosine kinase domain of both insulin receptor gene alleles. J Biol Chem 266: 5260-5267
20. Krook A, Brueton L, O'Rahilly S (1993) Homozygous nonsense mutation in the insulin receptor gene in infant with leprechaunism. Lancet 342: 277-278
21. Wertheimer E, Lu S, Backeljauw PF, Davenport ML, Taylor SI (1993) Homozygous deletion of the human insulin receptor gene results in leprechaunism. Nature Genetics 5: 71-73
22. Psiachou H, Mitton S, Alaghband ZJ, Hone J, Taylor SI, Sinclair L (1993) Leprechaunism and homozygous nonsense mutation in the insulin receptor gene. Lancet 342: 924
23. Yamamoto R, Shibata T, Tobe K et al. (1990) Defect in tyrosine kinase activity of the insulin receptor from a patient with insulin resistance and acanthosis nigricans. J Clin Endocrinol Metab 70: 869:-878
24. Kaburagi Y, Momomura K, Yamamoto-Honda R et al. (1993) Site-directed mutagenesis of the juxtamembrane domain of the human insulin receptor. J Biol Chem 268: 16610-16622
25. Yamamoto-Honda R, Koshio O, Tobe K et al. (1990) Phosphorylation state and biological function of a mutant human insulin receptor Val 996. J Biol Chem 265: 14777-14783
26. Ando A, Momomura K, Tobe K et al. (1992) Enhanced insulin-induced mitogenesis and mitogen-activated protein kinase activities in mutant insulin receptors with substitution of two COOH-terminal tyrosine autophosphorylation sites by phenylalanine. J Biol Chem 267: 12788-12796
27. Izumi T, Saeki Y, Akanuma Y, Takaku F, Kasuga M (1993) Requirement for receptor-intrinsic tyrosine kinase activities during ligand-induced membrane ruffling of KB cells. J Biol Chem 263: 10386-10393
28. Seino S, Seino M, Bell GI (1990) Human insulin receptor gene: partial sequence and amplification of exons by polymerase chain reaction. Diabetes 39: 123-128
29. Seino S, Seino M, Nishi S, Bell GI (1989) Structures of the human insulin receptor gene and its characterization of its promotor. Proc Natl Acad Sci USA 86: 114-118
30. Kadowaki T, Kadowaki H, Taylor SI (1990) A nonsense mutation causing decreased levels of insulin receptor mRNA: detection by a simplified technique for direct sequencing of genomic DNA amplified by polymerase chain reaction. Proc Natl Acad Sci USA 87: 658-662
31. Ullrich A, Bell JR, Chen EY et al. (1985) Human insulin receptor and its relationship to the tyrosine kinase family of oncogenes. Nature 313: 756-761
32. Kunkel TA (1985) Rapid and efficient site-specific mutagenesis without phenotypic selection. Proc Natl Acad Sci USA 82: 488-492
33. Momomura K, Tobe K, Seyama Y, Takaku F, Kasuga M (1988) Insulin-induced tyrosine-phosphorylation in intact rat adipocytes. Biochem Biophys Res Commun 155: 1181-1186
34. Chou CK, Dull TJ, Russel DS et al. (1987) Human insulin receptors mutated at the ATP-binding site lack protein tyrosine kinase activity and fail to mediate postreceptor effects of insulin. J Biol Chem 262: 1842-1847
35. Kida Y, Nyomba BL (1991) Defective insulin response of cyclic adenosine monophosphate-dependent protein kinase in insulin-resistant humans. J Clin Invest 87: 673-679
36. Kuzuya H, Matsuura N, Sakamoto M et al. (1993) Trial of insulinlike growth factor I therapy for patients with extreme insulin resistance syndromes. Diabetes 42: 696-705
37. Ebina Y, Ellis L, Jarnagin K et al. (1985) The human insulin receptor cDNA. The structural basis for hormone-activated transmembrane signalling. Cell 40: 747-758
38. Longo N, Langley SD, Griffin LD, Elsas LJ (1995) Two mutations in the insulin receptor gene of a patient with leprechaunism: application to prenatal diagnosis. J Clin Endocrinol Metab 80: 1496-1501
39. Hubbard SR, Wei L, Ellis L, Hendrickson WA (1994) Crystal structure of the tyrosine kinase domain of the human insulin receptor. Nature 372: 746-754
40. Sun XJ, Rothenberg P, Kahn CR et al. (1991) Structure of the insulin receptor substrate IRS-1 defines a unique signal transduction protein. Nature 352: 73-77
41. Kadowaki T, Koyasu S, Nishida E (1987) Tyrosine phosphorylation of common and specific sets of cellular proteins rapidly induced by insulin. J Biol Chem 262: 1282-1287
42. Sasaoka T, Rose DW, Jhun BH, Saltiel AR, Draznin B, Olefsky JM (1994) Evidence for a functional role of Shc proteins in mitogenic signalling induced by insulin, insulin-like growth factor-1, and epidermal growth factor. J Biol Chem 269: 13689-13694
43. Backeljauw PF, Alves C, Eidson M, Cleveland W, Underwood LE, Davenport ML (1994) Effect of intravenous insulin-like growth factor I in two patients with leprechaunism. Pediatr Res 36: 749-754
44. Accili D, Drago J, Lee EJ et al. (1996) Early neonatal death in mice homozygous for a null allele of the insulin receptor gene. Nat Genet 12: 106-109
45. Tamemoto H, Kadowaki T, Tobe K et al. (1994) Insulin resistance and growth retardation in mice lacking insulin receptor substrate-1. Nature 372: 182-186
46. Araki E, Lipes MA, Patti M-E et al. (1994) Alternative pathway of insulin signalling in mice with targeted disruption of the IRS-1 gene. Nature 372: 186-190
47. Kolaczynski JW, Caro JF (1994) Insulin-like growth factor-1 therapy in diabetes: physiologic basis, clinical benefits, and risks. Ann Intern Med 120: 47-55