The insulin gene in type 1 diabetes

IUBMB Life

Volumn 57, Issue 7, 2005, Pages 463-468

  Pugliese, Alberto ^a  

^a UNIVERSITY OF MIAMI   (United States)

Author keywords

IDDM; IDDM2; Imprinting; INS; Insulin; Tolerance; Type 1 diabetes; VNTR

Indexed keywords

GLUCOSE; INSULIN; POLYPYRIMIDINE TRACT BINDING PROTEIN; PROINSULIN; TRANSCRIPTION FACTOR;

AUTOCRINE EFFECT; AUTOIMMUNE DISEASE; AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; AUTOIMMUNITY; CONSENSUS SEQUENCE; DISEASE PREDISPOSITION; DNA POLYMORPHISM; ENDOCRINE FUNCTION; GENE EXPRESSION; GENE FUNCTION; GENE SEQUENCE; GENETIC EPIDEMIOLOGY; GENETIC EPIGENESIS; GENETIC SUSCEPTIBILITY; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; GLUCOSE METABOLISM; HUMAN; IMMUNOLOGICAL TOLERANCE; INSULIN DEPENDENT DIABETES MELLITUS; INSULIN RELEASE; INSULIN TOLERANCE TEST; NEUROMODULATION; NONHUMAN; PANCREAS; PANCREAS ISLET BETA CELL; PARACRINE SIGNALING; PROMOTER REGION; PROTEIN PROCESSING; RACE DIFFERENCE; REVIEW; RNA TRANSLATION; THYMUS; TISSUE SPECIFICITY; VARIABLE NUMBER OF TANDEM REPEAT;

ANIMALS; DIABETES MELLITUS, TYPE 1; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INSULIN; THYMUS GLAND;

EID: 23444454380     PISSN: 15216543     EISSN: None     Source Type: Journal    
DOI: 10.1080/15216540500163301     Document Type: Review

References (60)

1. Le Roith, D. and Zick, Y. (2001) Diabetes Care 24, 588-597.
2. Bell, G. I., Pictet, R. L., Rutter, W. J., Cordell, B., Tischer, E., and Goodman, H. M. (1980) Nature 284, 26-32.
3. Ohneda, K., Ee, H., and German, M. (2000) Semin. Cell Dev. Biol. 11, 227-233.
4. Permutt, A., Chirgwin, J., Giddings, S., Kakita, K., and Rotwein, P. (1981) Clin. Biochem. 14, 230-236.
5. Itoh, N. and Okamoto, H. (1980) Nature 283, 100-102.
6. Welsh, M., Nielsen, D. A., MacKrell, A. J., and Steiner, D. F. (1985) J. Biol. Chem. 260, 13590-13594.
7. Tillmar, L. and Welsh, N. (2002) Mol. Med. 8, 263-272.
8. Tillmar, L., Carlsson, C., and Welsh, N. (2002) J. Biol. Chem. 277, 1099-1106.
9. Tillmar, L. and Welsh, N. (2004) Mol. Cell Biochem. 260, 85-90.
10. Knoch, K. P., Bergert, H., Borgonovo, B., Saeger, H. D., Altkruger, A., Verkade, P., and Solimena, M. (2004) Nat. Cell Biol. 6, 207-214.
11. Giddings, S. J., Chirgwin, J., and Permutt, M. A. (1982) Diabetes 31, 624-629.
12. Shalev, A., Blair, P. J., Hoffmann, S. C., Hirshberg, B., Peculis, B. A., and Harlan, D. M. (2002) Endocrinology 143, 2541-2547.
13. Minn, A. H., Kayton, M., Lorang, D., Hoffmann, S. C., Harlan, D. M., Libutti, S. K., and Shalev, A. (2004) Lancet 363, 363-367.
14. Minn, A. H., Lan, H., Rabaglia, M. E., Harlan, D. M., Peculis, B. A., Attie, A. D., and Shalev, A. (2005) Mol. Endocrinol. 19, 794-803.
15. Devaskar, S. U., Singh, B. S., Carnaghi, L. R., Rajakumar, P. A., and Giddings, S. J. (1993) Regulatory Peptides 48, 55-63.
16. Taha, A., Budd, G. C., and Pansky, B. (1993) Ann. Clin. Lab. Sci. 23, 469-476.
17. Budd, G. C., Pansky, B., and Glatzer, L. (1993) Invest. Ophthalmol. Vis. Sci. 34, 463-469.
18. Giddings, S. J., King, C. D., Harman, K. W., Flood, J. F., and Carnaghi, L. R. (1994) Nature Genetics 6, 310-313.
19. Kendzierski, K. S., Pansky, B., Budd, G. C., and Saffran, M. (2000) Endocrine 13, 353-359.
20. Prabakar, K. R., and Pugliese, A. (2004) Curr. Diab. Rep. 4, 101-107.
21. Vidal, J., and Kahn, S. E. (2001) Regulation of insulin secretion in vivo. In Genetics of Diabetes Mellitus (Lowe, W. L., ed.). Kluwer Academic Publishers, Boston, Dordrecht, London.
22. Bell, G. I., Selby, M. J., and Rutter, W. J. (1982) Nature 295, 31-35.
23. Bell, G. I., Horita, S., and Karam, J. H. (1984) Diabetes 33, 176-183.
24. Hammond-Kosack, M. C., and Docherty, K. (1992) FEBS Lett. 301, 79-82.
25. Lew, A., Rutter, W. J., and Kennedy, G. C. (2000) Proc. Natl. Acad. Sci. USA 97, 12508-12512.
26. Kennedy, G. C., German, M. S., and Rutter, W. J. (1995) Nat. Genet. 9, 293-298.
27. Redondo, M. J., Yu, L., Hawa, M., Mackenzie, T., Pyke, D. A., Eisenbarth, G. S., and Leslie, R. D. (2001) Diabetologia 44, 354-362.
28. Onengut-Gumuscu, S., and Concannon, P. (2002) Immunol. Rev. 190, 182-194.
29. Cox, N. J., Bell, G. I., and Xiang, K. S. (1988) Am. J. Hum. Genet. 43, 495-501.
30. Bennett, S. T., and Todd, J. A. (1996) Annu. Rev. Genet. 30, 343-370.
31. Metcalfe, K. A., Hitman, G. A., Rowe, R. E., Hawa, M., Huang, X., Stewart, T., and Leslie, R. D. (2001) Diabetes Cure 24, 838-842.
32. Pugliese, A., Awdeh, Z. L., Alper, C. A., Jackson, R. A., and Eisenbarth, G. S. (1994) J. Autoimmun. 7, 687-694.
33. Bennett, S. T., Wilson, A. J., Cucca, F., Nerup, J., Pociot, F., McKinney, P. A., Barnett, A. H., Bain, S. C., and Todd, J. A. (1996) J. Autoimmun. 9, 415-421.
34. Bennett, S. T., Lucassen, A. M., Gough, S. C., Powell, E. E., Undlien, D. E., Pritchard, L. E., Merriman, M. E., Kawaguchi, Y., Dronsfield, M. J., and Pociot, F. (1995) Nat. Genet. 9, 284-292.
35. Owerbach, D., and Aagaard, L. (1984) Gene 32, 475-479.
36. Stead, J. D., Buard, J., Todd, J. A., and Jeffreys, A. J. (2000) Hum. Mol. Genet. 9, 2929-2935.
37. Pugliese, A. (2004) Immunology 111, 138-146.
38. Pugliese, A., Zeller, M., Fernandez, A. J., Zalcberg, L. J., Bartlett, R. J., Ricordi, C., Pietropaolo, M., Eisenbarth, G. S., Bennett, S. T., and Patel, D. D. (1997) Nat. Genet. 15, 293-297.
39. Vafiadis, P., Bennett, S. T., Todd, J. A., Nadeau, J., Grabs, R., Goodyer, C. G., Wickramasinghe, S., Colle, E., and Polychronakos, C. (1997) Nat. Genet. 15, 289-292.
40. Wong, F. S., and Janeway, C. A. J. (1999) Curr. Opin. Immunol. 11, 643-647.
41. Eisenbarth, G. S., Moriyama, H., Robles, D. T., Liu, E., Yu, L., Babu, S., Redondo, M., Gottlieb, P., Wegmann, D., and Rewers, M. (2002) Autoimmun. Rev. 1, 139-145.
42. Narendran, P., Mannering, S. I., and Harrison, L. C. (2003) Autoimmun. Rev. 2, 204-210.
43. Wentworth, B. M., Schaefer, I. M., Villa-Komaroff, L., and Chirgwin, J. M. (1986) J. Mol. Evolution 23, 305-312.
44. Chentoufi, A. A., and Polychronakos, C. (2002) Diabetes 51, 1383-1390.
45. French, M. B., Allison, J., Cram, D. S., Thomas, H. E., Dempsey-Collier, M., Silva, A., Georgiou, H. M., Kay, T. W., Harrison, L. C., and Lew, A. M. (1997) Diabetes 46, 34-39.
46. Thebault-Baumont, K., Dubois-Laforgue, D., Krief, P., Briand, J. P., Halbout, P., Vallon-Geoffroy, K., Morin, J., Laloux, V., Lehuen, A., Carel, J. C., Jami, J., Muller, S., and Boitard, C. (2003) J. Clin. Invest. 111, 851-857.
47. Moriyama, H., Abiru, N., Paronen, J., Sikora, K., Liu, E., Miao, D., Devendra, D., Beilke, J., Gianani, R., Gill, R. G., and Eisenbarth, G. S. (2003) Proc. Natl. Acad. Sci. USA 100, 10376-10381.
48. Ramsey, C., Winqvist, O., Puhakka, L., Halonen, M., Moro, A., Kampe, O., Eskelin, P., Pelto-Huikko, M., and Peltonen, L. (2002) Hum. Mol. Genet. 11, 397-409.
49. Anderson, M. S., Venanzi, E. S., Klein, L., Chen, Z., Berzins, S. P., Turley, S. J., von Boehmer, H., Bronson, R., Dierich, A., Benoist, C., and Mathis, D. (2002) Science 298, 1395-1401.
50. Heino, M., Peterson, P., Kudoh, J., Nagamine, K., Lagerstedt, A., Ovod, V., Ranki, A., Rantala, I., Nieminen, M., Tuukkanen, J., Scott, H. S., Antonarakis, S. E., Shimizu, N., and Krohn, K. (1999) Biochem. Biophys. Res. Commun. 257, 821-825.
51. Heino, M., Peterson, P., Kudoh, J., Shimizu, N., Antonarakis, S. E., Scott, H. S., and Krohn, K. (2001) Hum. Mutat. 18, 205-211.
52. Perheentupa, J. (2002) Endocrinol. Metab. Clin. North Am. 31, 295-320.
53. Liston, A., Lesage, S., Wilson, J., Peltonen, L., and Goodnow, C. C. (2003) Nat. Immunol. 4, 350-354.
54. Sprent, J., and Surh, C. D. (2003) Nat. Immunol. 4, 303-304.
55. Pugliese, A. and Diez, J. (2002) Nat. Immunol. 3, 335-336.
56. Diez, J., Allende, G., Zeller, M., and Pugliese, A. (2002) Diabetes/Metab. Res. Rev. 18, S14.
57. Narendran, P., Neale, A., Kent, J., Steptoe, R. J., and Harrison, L. C. (2004) Proinsulin is expressed ectopically by human peripheral blood cells. Clin. Invest. Med. 27, 94B.
58. Vafiadis, P., Bennett, S. T., Colle, E., Grabs, R., Goodyear, C. G., and Polychronakos, C. (1996) J. Autoimmun. 9, 397-403.
59. Bennett, S. T., Wilson, A. J., Esposito, L., Bouzekri, N., Undlien, D. E., Cucca, F., Nistico, L., Buzzetti, R., Bosi, E., Pociot, F., Nerup, J., Cambon-Thomsen, A., Pugliese, A., Shield, J. P., McKinney, P. A., Bain, S. C., Polychronakos, C., and Todd, J. A. (1997) Nat. Genet. 17, 350-352.
60. Hollick, J. B., Dorweiler, J. E., and Chandler, V. L. (1997) Trends Genet. 13, 302-308.