Genetic and physical mapping of a type 1 susceptibility gene (IDDM12) to a 100-kb phagemid artificial chromosome clone containing D2S72-CTLA4- D2S105 on chromosome 2q33

Diabetes

Volumn 49, Issue 3, 2000, Pages 492-499

  Marron, Michele P ^a   Zeidler, Adina ^c   Raffel, Leslie J ^d   Eckenrode, Sarah E ^a   Yang, James J ^b   Hopkins, Diane I ^a   Garchon, Henri Jean ^e   Jacob, Chaim O ^c   Serrano Rios, Manuel ^f   Larrad, Maria T Martinez ^f   Park, Yongsoo ^g   Bach, Jean Francois ^e   Rotter, Jerome I ^d   Yang, Mark C K ^b   She, Jin Xiong ^a,h  

^a UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^b Univ of S California Sch of Med ^*  (United States)

^c UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^d CEDARS SINAI MEDICAL CENTER   (United States)

^e BICHAT HOSPITAL   (France)

^f UNIVERSIDAD COMPLUTENSE DE MADRID   (Spain)

^g Hanyang University College of Medicine   (South Korea)

^h Dept Pathol Immunol Lab Med   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 2Q; DISEASE ASSOCIATION; GENE MAPPING; GENETIC LINKAGE; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; MAJOR CLINICAL STUDY; PATHOGENESIS; PRIORITY JOURNAL; SEQUENCE TAGGED SITE;

EID: 0034049641     PISSN: 00121797     EISSN: None     Source Type: Journal    
DOI: 10.2337/diabetes.49.3.492     Document Type: Article

References (70)

1. Atkinson MA, Maclaren NK: The pathogenesis of insulin-dependent diabetes mellitus. N Engl J Med 331:1428-1436, 1994
2. Eisenbarth GS: Type 1 diabetes mellitus: a chronic autoimmune disease. N Engl J Med 314:1360-1368, 1986
3. Cucca F, Lampis R, Frau F, Macis D, Angius E, Masile P, Chessa M, Frongia P, Silvetti M, Cao A, Virgiliis SD, Congia M: The distribution of DR4 haplotypes in Sardinia suggests a primary association of type I diabetes with DRB1 and DQB1 loci. Hum Immunol 43:301-308, 1995
4. Deng GY, Muir A, Maclaren NK, She JX: Association of LMP2 and LMP7 genes within the major histocompatibility complex with insulin-dependent diabetes mellitus: population and family studies. Am J Hum Genet 56:528-534, 1995
5. Erlich HA, Rotter JI, Chang J, Shaw S, Raffel LJ, Klitz W, Beshkov Y, Costin R, Pressman S, Bugawan T, Zeidler A: HLA class II alleles and susceptibility and resistance to insulin-dependent diabetes mellitus in Mexican-American families. Nat Genet 3:358-364, 1993
6. Erlich HA, Rotter JI, Chang J, Shaw S, Raffel LJ, Klitz W, Bugawan T, Zeidler A: Independent association of HLA-DPB1*0301 with insulin-dependent diabetes mellitus in Mexican-Americans. Diabetes 45:610-614, 1996
7. Nepom GT: A unified hypothesis for the complex genetics of HLA associations with IDDM. Diabetes 39:1153-1157, 1990
8. She JX: Susceptibility to type I diabetes: HLA-DQ and DR revisited. Immunol Today 17:323-329, 1996
9. Sheehy MJ, Scharf SJ, Rowe JR, Neme de Gimenez MH, Meske LM, Erllich HA, Nepom BS: A diabetes susceptibility HLA haplotype is best defined by a combination of HLA-DR and -DQ alleles. J Clin Invest 83:830-835, 1989
10. Todd JA, Acha-Orbea H, Bell JI, Chao N, Fronek Z, Jacob CO, McDermott M, Sinha AA, Timmerman L, Steinman L, McDevitt HO: A molecular basis for MHC class II-associated autoimmunity. Science 240:1003-1009, 1988
11. Todd JA, Bell JI, McDevitt HO: HLA-DQ gene contributes to susceptibility and resistance to insulin-dependent diabetes mellitus. Nature 329:599-604, 1987
12. Bell GI, Horita S, Karam JH: A polymorphic locus near the human insulin gene is associated with insulin-dependent diabetes mellitus. Diabetes 33:176-183, 1984
13. Bennett ST, Lucassen AM, Gough SCL, Powell EE, Undlien DE, Pritchard LE, Merriman ME, Kawaguchi Y, Dronsfield MJ, Pociot F, Nerup J, Bouzekri N, Cambon-Thomsen A, Ronnigen KS, Barnett AH, Bain CC, Todd JA: Susceptibility to human type 1 diabetes at IDDM2 is determined by tandem repeat variation at the insulin gene minisatellite locus. Nat Genet 9:284-292, 1995
14. Bennett ST, Wilson AJ, Cucca F, Nerup J, Pociot F, McKinney PA, Barnett AH, Bain SC, Todd JA: IDDM2-VNTR-encoded susceptibility to type 1 diabetes: dominant protection and parental transmission of alleles of the insulin gene-linked minisatellite locus. J Autoimmun 9:415-421, 1996
15. Bennett ST, Wilson AJ, Esposito L, Bouzekri N, Undlien DE, Cucca F, Nistico L, Buzzetti F, Bosi E, Pociot F, Nerup J, Cambon Thomsen A, Pugliese A, Shield JP, McKinney PA, Bain SC, Polychronakos C, Todd JA: Insulin VNTR allele-specific effect in type 1 diabetes depends on identity of untransmitted paternal allele: the IMDIAB Group. Nat Genet 17:350-352, 1997
16. Bui MM, Luo DF, She JY, Maclaren NK, Muir A, Thomson G, She JX: Paternally transmitted IDDM2 influences diabetes susceptibility despite biallelic expression of the insulin gene in human pancreas. J Autoimmun 9:97-103, 1996
17. Lucassen AM, Julier C, Beressi JP, Boitard C, Froguel P, Lathrop M, Bell JI: Susceptibility to insulin dependent diabetes mellitus maps to a 4.1 kb segment of DNA spanning the insulin gene and associated VNTR. Nat Genet 4:305-310, 1993
18. Pugliese A, Awdeh ZL, Alper CA, Jackson RA, Eisenbarth GS: The paternally inherited insulin gene B allele (1,428 Fok I site) confers protection from insulin-dependent diabetes in families. J Autoimmun 7:687-694, 1994
19. She JX, Bui MM, Tian XH, Muir A, Wakeland EK, Zorovich B, Zhang LP, Liu MC, Thomson G, Maclaren NK: Additive susceptibility to insulin-dependent diabetes conferred by HLA-DQB1 and insulin genes. Autoimmunity 18:195-203, 1994
20. Kennedy GC, German MS, Rutter WJ: The minisatellite in the diabetes susceptibility locus IDDM2 regulates insulin transcription. Nat Genet 9:293-297, 1995
21. Lucassen AM, Screaton GR, Julier C, Elliott TJ, Lathrop M, Bell JI: Regulation of insulin gene expression by the IDDM associated, insulin locus haplotype. Hum Mol Genet 4:501-506, 1995
22. Vafiadis P, Bennett ST, Colle E, Grabs R, Goodyer CG, Polychronakos C: Imprinted and genotype-specific expression of genes at the IDDM2 locus in pancreas and leucocytes. J Autoimmun 9:397-403, 1996
23. Concannon P, Ewens-Gogolin KJ, Hinds D, Wapelhorst B, Morrison VA, Stirling B, Mitra M, Farmer J, Williams SR, Cox DR, Bell GI, Risch N, Spielman RS: A second-generation screen of the human genome for susceptibility to insulin-dependent diabetes mellitus. Nat Genet 19:292-296, 1998
24. Davies JL, Yoshihiko K, Bennett S, Copeman JB, Cordell HJ, Pritchard LE, Reed PW, Gough SCL, Jenkins C, Palmer SM, Balfour KM, Rowe BR, Farrall M, Barnett AH, Bain SC, Todd JA: A genome-wide search for human type 1 diabetes susceptibility genes. Nature 371:130-136, 1994
25. Delepine M, Pociot F, Habita C, Hashimoto L, Froguel P, Rotter J, Cambon-Thomsen A, Deschamps I, Djoulah S, Weissenbach J, Nerup J, Lathrop M, Julier C: Evidence of a non-MHC susceptibility locus in type I diabetes linked to HLA on chromosome 6. Am J Hum Genet 160:174-187, 1997
26. Field LL, Tobias R, Magnus T: A locus on chromosome 15q26 (IDDM3) produces susceptibility to insulin-dependent diabetes mellitus. Nat Genet 8:189-194, 1994
27. Field LL, Tobias R, Thomson G, Plon S: Susceptibility to insulin-dependent diabetes mellitus maps to alocus (IDDM11) on human chromosome 14q24.3-q31. Genomics 33:1-8, 1996
28. Hashimoto L, Habita C, Beressi JP, Delepine M, Besse C, Cambon-Thomsen A, Deschamps I, Rotter JI, Djoulah S, James MR, Froguel P, Weissenbach J, Lathrop GM, Julier C: Genetic mapping of a susceptibility locus for insulin-dependent diabetes mellitus on chromosome 11q. Nature 371:161-164, 1994
29. Luo DF, Bui MM, Muir A, Maclaren NK, Thomson G, She JX: Affected sibpair mapping of a novel susceptibility gene to insulin-dependent diabetes mellitus (IDDM8) on chromosome 6q25-q27. Am J Hum Genet 57:911-919, 1995
30. Mein CA, Esposito L, Dunn MG, Johnson GC, Timms AE, Goy JV, Smith AN, Sebag-Montefiore L, Merriman ME, Wilson AJ, Pritchard LE, Cucca F, Barnett AH, Bain SC, Todd JA: A search for type 1 diabetes susceptibility genes in families from the United Kingdom. Nat Genet 19:297-300, 1998
31. Morahan G, Huang D, Tait BD, Colman PG, Harrison LC: Markers on distal chromosome 2q linked to insulin-dependent diabetes mellitus. Science 272: 1811-1813, 1996
32. Owerbach D, Gabbay KH: The HOXD8 locus (2q31) is linked to type I diabetes: interaction with chromosome 6 and 11 disease susceptibility genes. Diabetes 44:132-136, 1995
33. Luo DF, Buzzetti R, Rotter JI, Maclaren NK, Raffel LJ, Nistico L, Giovannini C, Pozzilli P, Thomson G, She JX: Confirmation of three susceptibility genes to insulin-dependent diabetes mellitus: IDDM4, IDDM5 and IDDM8. Hum Mol Genet 5:693-698, 1996
34. Marron MP, Raffel LJ, Garchon H-J, Jacob CO, Serrano-Rios M, Larrad MTM, Teng W-P, Park Y, Zhang Z-X, Goldstein DR, Tao YW, Beaurain G, Bach J-F, Huang H-S, Luo D-F, Zeidler A, Rotter JI, Yang MCK, Modilevsky T, Maclaren NK, She J-X: Insulin-dependent diabetes mellitus (IDDM) is associated with CTLA4 polymorphisms in multiple ethnic groups. Hum Mol Genet 6:1275-1282, 1997
35. Nistico L, Buzzetti R, Pritchard LE, Van der Auwera B, Giovannini C, Bosi E, Larrad MT, Rios MS, Chow CC, Cockram CS, Jacobs K, Mijovic C, Bain SC, Barnett AH, Vandewalle CL, Schuit F, Gorus FK, Tosi R, Pozzilli P, Todd JA: The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes: Belgian Diabetes Registry. Hum Mol Genet 5:1075-1080, 1996
36. Donner H, Rau H, Walfish PG, Braun J, Siegmund T, Finke R, Herwig J, Usadel KH, Badenhoop K: CTLA4 alanine-17 confers genetic susceptibility to Graves' disease and to type 1 diabetes mellitus. J Clin Endocrinol Metab 82:143-146, 1997
37. Awata T, Kurihara S, Iitaka M, Takei SI, Inou I, Ishii C, Negishi K, Izumida T, Yoshida Y, Hagura R, Kuzuya N, Kanazawa Y, Katayama S: Association of CTLA4 gene A-G polymorphism (IDDM12 locus) with acute-onset and insulin-depleted IDDM as well as autoimmune thyroid disease (Graves' disease and Hashimoto's thyroiditis) in the Japanese population. Diabetes 47:128-129, 1998
38. Donner H, Braun J, Seidl C, Rau H, Finke R, Ventz M, Walfish PG, Usadel KH, Badenhoop K: Codon 17 polymorphism of the cytotoxic T lymphocyte antigen 4 gene in Hashimoto's thyroiditis and Addison's disease. J Clin Endocrinol Metab 82:4130-4132, 1997
39. Kotsa K, Watson PF, Weetman AP: A CTLA-4 gene polymorphism is associated with both Graves' disease and autoimmune hypothyroidism. Clin Endocrinol 46:551-554, 1997
40. Yanagawa T, Hidaka Y, Guimaracs V, Soliman M, DeGroot LJ: CTLA4 gene polymorphism associated with Graves' disease in a Caucasian population. J Clin Endocrinol Metab 80:41-45, 1995
41. Jorde LB, Watkins WS, Carlson M, Groden J, Albertsen H, Thliveris A, Leppert M: Linkage disequilibrium predicts physical distance in the adenomatous polyposis coli region. Am J Hum Genet 54:884-898, 1994
42. Jorde LB, Watkins WS, Viskochil D, O'Connell P, Ward K: Linkage disequilibrium in the neurofibromatosis 1 (NF1) region: implications for gene mapping. Am J Hum Genet 53:1038-1050, 1993
43. Buonavista N, Balzano C, Pontarottii P, Paslier DL, Golstein P: Molecular linkage of the human CTLA4 and CD28 Ig-superfamily genes in yeast artificial chromosomes. Genomics 13:856-861, 1992
44. Luo DF, Maclaren NK, Huang HS, Muir A, She JX: Intrafamilial and case-control association analyses of D2S152 in insulin-dependent diabetes mellitus. Antoimmunity 21:143-145, 1995
45. Sambrook J, Fritsch EF, Maniatis T: Molecular Cloning: A Laboratory Manual. 2nd ed. Plainview, Cold Spring Harbor Laboratory Press, 1989
46. Spielman RS, Meginnis RE, Ewens WJ: Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 52:506-512, 1993
47. Kaplan NL, Martin ER, Weir BS: Power studies for the transmission/disequilibrium tests with multiple alleles. Am J Hum Genet 60:691-702, 1997
48. Sham PC, Curtis D: An extended transmission/disequilibrium test (TDT) for multi-allele marker loci. Ann Hum Genet 59:323-336, 1995
49. Terwilliger JD: A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci. Am J Hum Genet 56:777-787, 1995
50. Martin ER, Kaplan NL, Weir BS: Tests for linkage and association in nuclear families. Am J Hum Genet 61:439-448, 1997
51. Weir BS: Genetic Data Analysis. Saunderland, MA, Sinauer Associates, 1990
52. Hudson TJ, Stein LD, Gerety SS, Ma J, Castle AB, Silvaa J: An STS-based map of the human genome. Science 270:1945-1954, 1995
53. Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, Marc S, Hazan J, Seboun E, Lathrop M, Gyapay G, Morissette J, Weissenbach J: A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154, 1996
54. Schuler GD, Boguski EA, Stewart LD, Stein G, Gyapay K, Rice RE, White P: A gene map of the human genome. Science 274:540-546, 1996
55. Lowe RM, Sund GC, Graham J, Landin-Olsson M, Lernmark A, Kockum I, Dahlquist G: The 3′-end CTLA-4 gene (AT) micro-satellite is associated with type 1 diabetes in 0-34 year old Swedish patients and controls (Abstract). Diabetes 47 (Suppl. 1):A204, 1998
56. Sherrington R, Melmer G, Dixon M, Curtis D, Mankoo B, Kalsi G, Gurling H: Linkage disequilibrium between two highly polymorphic microsatellites. Am J Hum Genet 49:966-971, 1991
57. Lenschow DJ, Walunas TL, Bluestone JA: CD28/B7 system of T cell costimulation. Ann Rev Immunol 14:233-258, 1996
58. Allison JP: CD28-B7 interactions in T-cell activation. Curr Opin Immunol 6:414-419, 1994
59. Linsley PS, Bradshaw J, Urnes M, Grosmaire L, Ledbetter JA: CD28 engagement by B7/BB-1 induces transient down-regulation of CD28 synthesis and prolonged unresponsiveness to CD28 signaling. J Immunol 150:3161-3169, 1993
60. Lindsten T, Lee KP, Harris ES, Petryniak B, Craighead N, Reynolds PJ, Lombard DB, Freeman GJ, Nadler LM, Gray GS, Thompson CB, June CH: Characterization of CTLA-4 structure and expression on human T cells. J Immunol 151:3489-3499, 1993
61. Perkins DL, Wang Z, Donovan C, He H, Mark D, Guan G, Wang Y, Walunas T, Bluestone JA, Listman J, Finn PWP: Regulation of CTLA-4 expression during T cell activation. J Immunol 156:4154-4159, 1996
62. Gribben JG, Freeman GJ, Boussiotis VA, Rennert P, Jellis CL, Greenfield E, Barber M, Restivo J, Ke X, Gray GS, Nadler LM: CTLA4 mediates antigen-specific apoptosis of human T cells. Proc Natl Acad Sci U S A 92:811-815, 1995
63. Perez VL, Van Parijs L, Biuckians A, Zheng XX, Strom TB, Abbas AK: Induction of peripheral T cell tolerance in vivo requires CTLA-4 engagement. Immunity 6:411-417, 1997
64. Thompson CB, Allison JP: The emerging role of CTLA-4 as an immune attenuator. Immunity 7:445-450, 1997
65. Walunas TL, Lenschow DJ, Bakker CY, Linsley PS, Freeman GJ, Green JM, Thomson CB, Bluestone JA: CTLA4 can function as a negative regulator of T cell activation. Immunity 1:405-413, 1994
66. Tivol EA, Borriello AN, Schweitzer AN, Lynch WP, Bluestone JA, Sharpe AH: Loss of CTLA4 leads to massive lymphoproliferation and fatal multiorgan tissue destruction, revealing a critical negative regulatory role of CTLA4. Immunity 3:541-548, 1995
67. Krummel MF, Allison JP: CTLA-4 engagement inhibits II-2 accumulation and cell cycle progression upon activation of resting T cells. J E.rp Med 183:2533-2540, 1996
68. June CH, Bluestone JA, Nadler LM, Thompson CB: The B7 and CD28 receptor families. Immunol Today 15:321-331, 1994
69. Robey E, Allison JP: T-cell activation: integration of signals from the antigen receptor and costimulatory molecules. Immunol Today 16:306-309, 1995
70. Vella AT, Mitchell T, Groth B, Linsley PS, Green JM, Thompson CB, Kappler JW, Marrack P: CD28 engagement and proinflammatory cytokines contribute to T cell expansion and long-term survival in vivo. J Immunol 158:4714-4720, 1997