Insulin receptor substrate polymorphisms and Type 2 diabetes mellitus

Pharmacogenomics

Volumn 1, Issue 3, 2000, Pages 343-357

  Sesti, Giorgio ^a  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

Author keywords

Genetics; Insulin receptor substrate; Insulin signalling; IRS 1; IRS 2; IRS 3; IRS 4; Type 2 diabetes

Indexed keywords

INSULIN RECEPTOR;

ANIMAL; GENETIC POLYMORPHISM; GENETICS; HUMAN; NON INSULIN DEPENDENT DIABETES MELLITUS; REVIEW;

ANIMALS; DIABETES MELLITUS, TYPE 2; HUMANS; POLYMORPHISM, GENETIC; RECEPTOR, INSULIN;

EID: 0034252531     PISSN: 14622416     EISSN: None     Source Type: Journal    
DOI: 10.1517/14622416.1.3.343     Document Type: Review

References (72)

1. DE FRONZO RA: Pathogenesis of Type 2 diabetes: metabolic and molecular implications for identifying diabetes genes. Diabetes Rev. (1997) 5:177-269.
2. WHITE MF: The insulin signalling system and the IRS proteins. Diabetologia (1997) 40:S2-S17. Exhaustive review on IRS family signalling molecules.
3. VIRKAMAKI A, UEKI K, KAHN CR: Protein-protein interaction in insulin signalling and the molecular mechanisms of insulin resistance. J. Clin. Invest. (1999) 103:931-943. Exhaustive review on insulin signalling.
4. SUN XJ, ROTHENBERG P, KAHN CR et al.: Structure of the insulin receptor substrate IRS-1 defines a unique signal transduction protein. Nature (1991) 352:73-77. Cloning of IRS-1.
5. SUN XJ, WANG LM, ZHANG Y et al.: Role of IRS-2 in insulin and cytokine signalling. Nature (1995) 377:173-177. Cloning of IRS-2.
6. LAVAN BE, LANE WS, LIENHARD GE: The 60-kDa phosphotyrosine protein in insulin-treated adipocytes is a new member of the insulin receptor substrate family. J. Biol. Chem. (1997) 272:11439-11443. Cloning of IRS-3.
7. LAVAN BE, FANTIN VR, CHANG ET, LANE WS, KELLER SR, LIENHARD GE: A novel 160-kDa phosphotyrosine protein in insulin-treated embryonic kidney cells is a new member of the insulin receptor substrate family. J. Biol. Chem. (1997) 272:21403-21407. Cloning of IRS-4.
8. GIOVANNONE B, SCALDAFERRI ML, FEDERICI M et al: Insulin receptor substrate transduction system: common and divergent signalling potential. Diabet. Metab. Res. Rev. (2000) (In Press).
9. ANAI M, ONO H, FUNAKI M et al.: Different subcellular distribution and regulation of expression of insulin receptor substrate (IRS)3 from those of IRS-1 and IRS-2. J. Biol. Chem. (1998) 273:29686-29692.
10. SUN XJ, PONS S, WANG LM et al.: The IRS-2 gene on murine chromosome 8 encodes a unique signalling adapter for insulin and cytokine action. Mol. Endocrinol. (1997) 11:251-262.
11. SAWKA-VERHELLE D, TARTARE-DECKERT S, WHITE MF, VAN OBBERGHEN E: Insulin receptor substrate-2 binds to the insulin receptor through its phosphotyrosine-binding domain and through a newly identified domain comprising amino acid 591-786. J. Biol. Chem. (1996) 271:5980-5983.
12. WANG LM, MYERS MG JR, SUN X, AARONSON SA, WHITE MF, PIERCE JH: IRS-1: essential for insulin and EL-4-stimulated mitogenesis in hematopoietic cells. Science (1993) 261:1591-1594. Functional characterisation of IRS-1.
13. CHEN D, VAN HORN DJ, WHITE MF, BACKER JM: Insulin receptor substrate I rescues insulin action in CHO cells expressing mutant insulin receptors that lack a juxtamembrane NPXY motif. Mol. Cell. Biol. (1995) 15:4711-4717.
14. QUON MJ, BUTTE AJ, ZARNOWSKI MJ, SESTI G, CUSHMAN SW, TAYLOR SI: Insulin receptor substrate 1 mediates the stimulatory effect of insulin on GLUT4 translocation in transfected rat adipose cells. J. Biol. Chem. (1994) 269:27920-27924.
15. 972 amino acid polymorphism in IRS-1 affects glucose metabolism in skeletal muscle cells. J. Clin. Endocrinol. Metab. (2000) 85:2004-2013.
16. ARAKIE, LIPES MA, PATTI ME et al.: Alternative pathways of insulin signalling in mice with targeted disruption of the IRS-1 gene. Nature (1994) 372:186-190. Animal model of insulin resistance.
17. TAMEMOTO H, KADOWAKI T, TOBE K et al.: Insulin resistance and growth retardation in mice lacking insulin receptor substrate-1. Nature(1994 372:182-186. Animal model of insulin resistance.
18. ABE H, YAMADA N, KAMATA K et al.: Hypertension, hypertriglyceridemia and unpaired endothelium-dependent vascular relaxation in mice lacking insulin-receptor substrate-1. J. Clin. Invest. (1998) 101:1784-1788. Animal model of insulin resistance.
19. BRUNING JC, WINNAY J, CHEATHAM B, KAHN CR. Differential signalling by insulin receptor substrate 1 (IRS-1) and IRS-2 in IRS-1-deficient cells. Mol. Cell. Biol. (1997) 17:1513-1521. Characterisation of functional differences between IRS-1 and IRS-2.
20. VALVERDE AM, KAHN CR, BENITO M: Insulin signalling in insulin receptor substrate (IRS)-1-deficient brown adipocytes. Diabetes (1999) 48:2122-2131.
21. 2+ homeostasis and insulin secretion. J. Biol. Chem. (1999) 18:18067-18074.
22. 972 → Arg amino acid polymorphism in IRS-1 impairs insulin secretion in pancreatic β-cells. J. Clin. Invest. (1999) 104:357-364. Identification of gene defect in insulin signalling causing β-cells dysfunction.
23. KULKARNI RH, WINNAY JN, DANIELS M et al.: Altered function of insulin receptor substrate-1-deficient mouse islets and cultured β-cell lines. J. Clin. Invest. (1999) 104:R69-R75. Characterisation of the pivotal role of IRS-1 in β-cell function.
24. SHUPPIN GT, PONS S, HUGL S et al.: A specific increased expression of insulin receptor substrate 2 in pancreatic β-cell lines is involved in mediating serum-stimulated-cell growth. Diabetes (1998) 47:1074-1085.
25. INOUE G, CHEATHAM B, EMKEY R, KAHN CR: Dynamics of insulin signalling in 3T3-L1 adipocytes. Differential compartmentalization and trafficking of insulin receptor substrate (IRS)-1 and IRS-2. J. Biol. Chem. (1998) 273:11548-11555.
26. OGIHARA T, SHIN BC, ANAI M et al.: Insulin receptor substrate (IRS)-2 is dephosphorylated more rapidly than IRS-1 via its association with phosphatidylinositol 3-kinase in skeletal muscle cells. J. Biol. Chem. (1997) 272:12868-12873.
27. WITHERS DJ, GUTIERREZ JS, TOWERY H et al.: Disruption of IRS-2 causes Type 2 diabetes in mice. Nature (1998) 391:900-904. Animal model of Type 2 diabetes.
28. HIGAKI Y, WOJTASZEWSKI JFP, HIRSHMAN MF et al.: Insulin receptor substrate-2 is not necessary for insulin- and exercise-stimulated glucose transport in skeletal muscle. J. Biol. Chemn. (1999) 274:20791-20795. Characterisation of functional differences between IRS-1 and IRS-2 in skeletal muscle.
29. YAMAUCHI T, TOBE K, TAMEMOTO H et al.: Insulin signalling and insulin actions in the muscle and livers of insulin-resistant, insulin receptor substrate 1-deficient mice. Mol. Cell. Biol. (1996) 16:3074-3084. Characterisation of functional differences between IRS-1 and IRS-2.
30. KABURAGI Y, SATOH S, TAMEMOTO H et al.: Role of insulin receptor substrate-1 and pp60 in the regulation of insulin-induced glucose transport and GLUT4 translocation in primary adipocytes. J. Biol. Chem. (1997) 272:25839-25844.
31. KIDO Y, BURKS DJ, WITHERS D et al.: Tissue-specific insulin resistance in mice with mutations in the insulin receptor, IRS-1 and IRS-2. J. Clin. Invest. (2000) 105:199-205.
32. LAVAN BE, LIENHARD GE: The 60-kDa phosphotyrosine protein in rat adipocytes is associated with phosphatidylinositol 3-kinase. J. Biol. Chem. (1993) 268:5921-5928.
33. SCIACCHITANO S, TAYLOR SI: Cloning, tissue expression and chromosomal localisation of the mouse IRS-3 gene. Endocrinology (1997) 138:4931-4940.
34. XU P, JACOBS AR, TAYLOR SI: Interaction of insulin receptor substrate-3 with insulin receptor, insulin receptor-related receptor, insulin-like growth factor-1 receptor and downstream signalling proteins. J. Biol. Chem. (1999) 274:15262-15270.
35. ZHOU L, CHEN H, XU P, CONG LN et al.: Action of insulin receptor substrate-3 (IRS-3) and IRS-4 to stimulate translocation of GLUT4 in rat adipose cells. Mol. Endocrinol. (1999) 13005-514.
36. LIU SCH, WANG Q, LIENHARD GE, KELLER SR: Insulin receptor substrate-3 is not essential for growth or glucose homeostasis. J. Biol. Chem.. (1999) 274:18093-18099.
37. FANTIN VR, SPARLING JD, SLOT JW, KELLER SR, LIENHARD GE, LAVAN B: Characterization of insulin receptor substrate 4 in human embryonic kidney 293 cells. J. Biol. Chem. (1998) 273:10726-10732.
38. FANTIN VR, LAVAN B, WANG Q et al.: Cloning, tissue expression and chromosomal localisation of the mouse insulin receptor substrate 4 gene. Endocrinology (1999) 140:1329-1337.
39. UCHIDA T, MYERS MG, WHITE MF: IRS-4 mediates protein kinase B signalling during insulin stimulation without promoting antiapoptosis. Mol. Cell. Biol. (2000) 20:126-138.
40. FANTIN VR, KELLER SR, LIENHARD GE, WANG Q: Insulin receptor substrate 4 supports insulin- and interleukin 4-stimulated proliferation of hematopoietic cells. Biochem. Biophys. Res. Commun. (1999) 260:718-723.
41. QU BH, KARAS M, KOVAL A, LEROITH D: Insulin receptor substrate 4 enhances insulin-like growth factor-I-induced cell proliferation. J. Biol. Chem. (1999) 274:31179-31184.
42. FANTIN VR, WANG Q, LIENHARD GE, KELLER SR: Mice lacking insulin receptor substrate 4 exhibit mild defects in growth reproduction and glucose homeostasis. Am. J. Physiol. Endocrinol. Metab. (2000) 278:E125-E133.
43. ALMIND K, BJORBAEK C, VESTERGAARD H, HANSEN T, ECHWALD SM, PEDERSEN O: Amino acid polymorphism in insulin receptor substrate-1 in non-insulin-dependent diabetes mellitus. Lancet (1995) 342:828-832. Association of IRS-1 polymorphism with Type 2 diabetes.
44. IMAI Y, FUSCO A, SUZUKI Y et al.: Variant sequences of insulin receptor substrate-1 in patients with noninsulin-dependent diabetes mellitus. J. Clin. Endocrinol. Metab. (1994) 79:1655-1658.
45. HITMAN GA, HAWRAMI K, MCCARTHY MI et al.: Insulin receptor substrate-1 gene mutations in NIDDM; implications for the study of polygenic disease. Diabetologia (1995) 38:481-486.
46. ZHANG Y, WAT N, STRATTON IM et al. UKPDS 19: Heterogeneity in NIDDM: separate contributions of IRS-1 and β3-adrenergic-receptor mutations to insulin resistance and obesity respectively with no evidence for glycogen synthase gene mutations. Diabetologia (1996) 39:1505-1511.
47. SIGAL RJ, DORIA A, WARRAM JH, KROLEWSKI AS: Codon 972 polymorphism in the insulin receptor substrate-1 gene, obesity and risk for noninsulin-dependent diabetes mellitus. J. Clin. Endocrinol. Metab. (1996) 81:1657-1659.
48. HAGER J, ZOUALI H, VELHO G, FROGUEL P: Insulin receptor substrate-1 (IRS-1) polymorphisms in French NIDDM families. Lancet (1993) 342:1430.
49. MORI H, HASHIRAMOTO M, KISHIMOTO, KASUGA M: Amino acid polymorphism of insulin receptor substrate-1 in Japanese noninsulin-dependent diabetes mellitus. J. Clin. Endocrinol. Metab. (1995) 80:2822-2826.
50. URA S, ARAKI E, KISHIKAWA H et al.: Molecular scanning of the IRS-1 gene in Japanese patients with non-insulin-dependent diabetes mellitus: identification of five novel mutations in IRS-1 gene. Diabetologia (1996) 39:600-608.
51. LAAKSO M, MALKKI M, KEKALAINEN P, KUUSISTO J, DEEB S: Insulin receptor substrate-1 variants in non-insulin-dependent diabetes. J. Clin. Invest. (1994) 94:1141-1146.
52. GRANT PJ, STICKLAND MH, MANSFIELD MW: Insulin receptor substrate-1 gene and cardiovascular risk factors in NIDDM. Lancet (1995) 346:841-842.
53. SHIMOKAWA K, KADOWAKI H, SAKUTA H et al.: Molecular scanning of the glycogen synthase and insulin receptor substrate-1 in Japanese subjects with non-insulin-dependent diabetes mellitus. Biochem. Biophys. Res. Commun. (1994) 202:463-469.
54. 972 Arg variant of the insulin receptor substrate-1 gene and NIDDM in Taiwanese population. Diabetes Care (1996) 19:446-449.
55. T HART LM, STOLK RP, DEKKER JM et al.: Prevalence of variants in candidate genes for Type 2 diabetes mellitus in the Netherlands: the Rotterdam study and the Hoorn study. J. Clin. Endocrinol. Metab. (1999) 84:1002-1006.
56. LEI H-H, CORESH J, SHULDINER AR, BOERWINKLE E, BRANCATI FL: Variants of the insulin receptor substrate-1 and fatty acid binding protein 2 genes and the risk of Type 2 diabetes, obesity and hyperinsulinemia in African-Americans: the Atherosclerosis Risk in Communities Study. Diabetes (1999) 48:1868-1872.
57. CELI F, SILVER C, WALSTON J, KNOWLER WC, BOGARDUS C, SHULDINER AR: Lack of IRS-1 codon 513 and 972 polymorphism in Pima Indians. J. Clin. Endocrinol. Metab. (1995) 80:2827-2829.
58. CLAUSEN JO, HANSEN T, BJORBAEK C et al.: Insulin resistance: interaction between obesity and a common variant of insulin receptor substrate-1. Lancet (1995) 346:397-102. Association of IRS-1 polymorphism with obesity.
59. BARONI MG, D'ANDREA MP, MONTALI A et al.: A common mutation of the insulin receptor substrate-1 gene is a risk factor for coronary artery disease. Arterioscler. Thromb. Vasc. Biol. (1999) 19:2975-2980.
60. 972 Arg in IRS-1 is not associated to lower clamp-derived insulin sensitivity in young healthy first degree relatives of patients with Type 2 diabetes. Exp. Clin. Endocrinol. Diabetes (1999) 107:318-322.
61. ALMIND K, INOUE G, PEDERSEN O, KAHN CR: A common amino acid polymorphism in insulin receptor substrate-1 causes unpaired insulin signalling. J. Clin. Invest. (1996) 97:2569-2575. Functional characterisation of IRS-1 polymorphism associated with Type 2 diabetes.
62. YOSHIMURA R, ARAKI E, URA S et al.: Impact of natural IRS-1 mutations on insulin signals. Diabetes (1997) 46:929-936.
63. IMAI Y, PHILIPPE N, SESTI G, ACCILI D, TAYLOR SI: Expression of variant forms of insulin receptor substrate-1 identified in patients with noninsulin-dependent diabetes mellitus. J. Clin. Endocrinol. Metab. (1997) 82:4201-4207.
64. HAJDUCH E, ALESSI DR, HEMMINGS BA, HUNDAL HS: Constitutive activation of protein kinase B alpha by membrane targeting promotes glucose and system A amino acid transport, protein synthesis and inactivation of glycogen synthase kinase 3 in L6 muscle cells. Diabetes (1998) 47:1006-1013.
65. 972 → Arg amino acid polymorphism of IRS-1 causes pancreatic β-cell apoptosis. Diabetes (1999) 48(Suppl. 1):A143.
66. BERNAL D, ALMIND K, YENUSH L et al.: Insulin receptor substrate-2 amino acid polymorphisms are not associated with random Type 2 diabetes among Caucasians. Diabetes (1998) 47:976-979. Exclusion IRS-2 as a candidate gene for Type 2 diabetes.
67. ALMIND K, FREDERIKSEN SK, BERNAL D et al.: Search for variants of the gene-promoter and the potential phosphotyrosine encoding sequence of the insulin receptor substrate-2 gene: evaluation of their relation with alterations in insulin secretion and insulin sensitivity. Diabetologia (1999) 42:1244-1249.
68. BEKTAS A, WARRAM JH, WHITE MF, KROLEWSKI AS, DORIA A: Exclusion of the insulin receptor substrate-2 (IRS-2) as a major locus for early-onset autosomal dominant Type 2 diabetes. Diabetes (1999) 48:640-642. Excludes IRS-2 as a candidate gene for Type 2 diabetes.
69. ALMIND K, FREDERIKSEN SK, AHLGREN MG et al.: Common amino acid substitutions in insulin receptor substrate-4 are not associated with Type II diabetes mellitus or insulin resistance. Diabetologia (1998) 41:969-974.
70. KULKARNI RN, BRUNING JC, WINNAY JN, POSTIC C, MAGNUSON MA, KAHN CR: Tissue-specific knockout of the insulin receptor in pancreatic β cells creates an insulin secretory defect similar to that in Type 2 diabetes. Cell (1999) 96:329-339. Animal model of Type 2 diabetes.
71. BRUNING JC, WINNAY J, BONNER-WIER S, TAYLOR SI, ACILI D, KAHN CR: Development of a novel polygenic model of NIDDM in mice heterozygous for IR and IRS-1 null alleles. Cell (1997) 88:561-572. Animal model of Type 2 diabetes.
72. TERAUCHI Y, IWAMOTO K, TAMEMOTO H et al.: Development of non-insulin-dependent diabetes mellitus in the double knockout mice with disruption of insulin receptor substrate-1 and β cell glucokinase genes. J. Clin. Invest. (1997) 99:861-866. Animal model of Type 2 diabetes.