Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1

Journal of Clinical Endocrinology and Metabolism

Volumn 88, Issue 9, 2003, Pages 4398-4406

  Schwitzgebel, Valerie M ^a,f   Mamin, Aline ^a   Brun, Thierry ^a   Ritz Laser, Beate ^a   Zaiko, Maia ^a   Maret, Alexandre ^b   Jornayvaz, Francois R ^b   Theintz, Gerald E ^b   Michielin, Olivier ^c,d   Melloul, Danielle ^e   Philippe, Jacques ^a  

^a GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^b LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^c LUDWIG INSTITUTE FOR CANCER RESEARCH   (Switzerland)

^d SWISS INSTITUTE OF BIOINFORMATICS   (Switzerland)

^e HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^f Hopital des Enfants Hopitaux universitaires de Geneve   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

INSULIN DERIVATIVE; INSULIN PROMOTER FACTOR 1; UNCLASSIFIED DRUG;

ADULT; AGED; AGENESIS; ARTICLE; CELL NUCLEUS; CONTROLLED STUDY; DNA BINDING; DNA HELIX; DRUG HALF LIFE; EXON; FEMALE; GENE LOCATION; GENE MUTATION; GENE TRANSLOCATION; GENETIC ANALYSIS; GENETIC TRANSCRIPTION; HOMEOBOX; HUMAN; HUMAN CELL; HUMAN TISSUE; INHERITANCE; MALE; MUTANT; NUCLEOTIDE SEQUENCE; PANCREAS; POINT MUTATION; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; SEQUENCE ANALYSIS; STATISTICAL SIGNIFICANCE; STEADY STATE; WILD TYPE;

AMINO ACID SEQUENCE; ANIMALS; BLOTTING, WESTERN; CELLS, CULTURED; CRICETINAE; DNA; ELECTROPHORETIC MOBILITY SHIFT ASSAY; GENES, REPORTER; GLUCOSE TOLERANCE TEST; GREEN FLUORESCENT PROTEINS; HALF-LIFE; HOMEODOMAIN PROTEINS; HUMANS; ISOTOPE LABELING; LUMINESCENT PROTEINS; MOLECULAR SEQUENCE DATA; MUTAGENESIS; MUTATION; PANCREAS; PLASMIDS; PRECIPITIN TESTS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TRANS-ACTIVATION (GENETICS); TRANS-ACTIVATORS; TRANSFECTION; TRANSLOCATION, GENETIC;

EID: 0141787919     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2003-030046     Document Type: Article

References (51)

1. Slack JM 1995 Developmental biology of the pancreas. Development 121:1569-1580
2. Inoue H, Riggs AC, Tanizawa Y, Ueda K, Kuwano A, Liu L, Donis-Keller H, Permutt MA 1996 Isolation, characterization, and chromosomal mapping of the human insulin promoter factor 1 (IPF-1) gene. Diabetes 45:789-794
3. Stoffel M, Stein R, Wright CV, Espinosa R, 3rd, Le Beau MM, Bell GI 1995 Localization of human homeodomain transcription factor insulin promoter factor 1 (IPF1) to chromosome band 13q12.1. Genomics 28:125-126
4. Ahlgren U, Jonsson J, Jonsson L, Simu K, Edlund H 1998 β-Cell-specific inactivation of the mouse Ipf1/Pdx1 gene results in loss of the β-cell phenotype and maturity onset diabetes. Genes Dev 12:1763-1768
5. Smith SB, Watada H, Scheel DW, Mrejen C, German MS 2000 Autoregulation and maturity onset diabetes of the young transcription factors control the human PAX4 promoter. J Biol Chem 275:36910-36919
6. Watada H, Mirmira RG, Leung J, German MS 2000 Transcriptional and translational regulation of β-cell differentiation factor Nkx6.1. J Biol Chem 275:34224-34230
7. Kaneto H, Miyagawa J, Kajimoto Y, Yamamoto K, Watada H, Umayahara Y, Hanafusa T, Matsuzawa Y, Yamasaki Y, Higashiyama S, Taniguchi N 1997 Expression of heparin-binding epidermal growth factor-like growth factor during pancreas development. A potential role of PDX-1 in transcriptional activation. J Biol Chem 272:29137-29143
8. Marshak S, Benshushan E, Shoshkes M, Havin L, Cerasi E, Melloul D 2000 Functional conservation of regulatory elements in the pdx-1 gene: PDX-1 and hepatocyte nuclear factor 3β transcription factors mediate β-cell-specific expression. Mol Cell Biol 20:7583-7590
9. Sosa-Pineda B, Chowdhury K, Torres M, Oliver G, Gruss P 1997 The Pax4 gene is essential for differentiation of insulin-producing β cells in the mammalian pancreas. Nature 386:399-402
10. Sander M, Neubuser A, Kalamaras J, Ee HC, Martin GR, German MS 1997 Genetic analysis reveals that PAX6 is required for normal transcription of pancreatic hormone genes and islet development. Genes Dev 11:1662-1673
11. Jonsson J, Carlsson L, Edlund T, Edlund H 1994 Insulin-promoter-factor 1 is required for pancreas development in mice. Nature 371:606-609
12. Offield MF, Jetton TL, Labosky PA, Ray M, Stein RW, Magnuson MA, Hogan BL, Wright CV 1996 PDX-1 is required for pancreatic outgrowth and differentiation of the rostral duodenum. Development 122:983-995
13. Stoffers DA, Zinkin NT, Stanojevic V, Clarke WL, Habener JF 1997 Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. Nat Genet 15:106-110
14. Oberholzer J, Triponez F, Mage R, Andereggen E, Buhler L, Cretin N, Fournier B, Goumaz C, Lou J, Philippe J, Morel P 2000 Human islet transplantation: lessons from 13 autologous and 13 allogeneic transplantations. Transplantation 69:1115-1123
15. Philippe J, Missotten M 1990 Functional characterization of a cAMP-responsive element of the rat insulin I gene. J Biol Chem 265:1465-1469
16. Ben-Shushan E, Marshak S, Shoshkes M, Cerasi E, Melloul D 2001 A pancreatic β-cell-specific enhancer in the human PDX-1 gene is regulated by hepatocyte nuclear factor 3β (HNF-3β), HNF-1α, and SPs transcription factors. J Biol Chem 276:17533-17540
17. Goudet G, Delhalle S, Biemar F, Martial JA, Peers B 1999 Functional and cooperative interactions between the homeodomain PDX1, Pbx, and Prep1 factors on the somatostatin promoter. J Biol Chem 274:4067-4073
18. Takaki R, Ono J, Nakamura Y, Yokogawa S, Kumae RT, Hiraoka K, Yamaguchi K, Hamaguchi K, Uchida S 1986 Isolation of glucagon-secreting cell lines by cloning insulinoma cells. In Vitro Cell Dev Biol 22:120-126
19. Graham FL, van der Eb AJ 1973 A new technique for the assay of infectivity of human adenovirus 5 DNA. Virology 52:456-467
20. Drucker DJ, Philippe J, Jepeal L, Habener JF 1987 Glucagon gene 5′-flanking sequences promote islet cell-specific gene transcription. J Biol Chem 262:15659-15665
21. Morel C, Cordier-Bussat M, Philippe J 1995 The upstream promoter element of the glucagon gene, G1, confers pancreatic α cell-specific expression. J Biol Chem 270:3046-3055
22. Iynedjian PB, Marie S, Wang H, Gjinovci A, Nazaryan K 1996 Liver-specific enhancer of the glucokinase gene. J Biol Chem 271:29113-29120
23. Ohneda K, Mirmira RG, Wang J, Johnson JD, German MS 2000 The homeodomain of PDX-1 mediates multiple protein-protein interactions in the formation of a transcriptional activation complex on the insulin promoter. Mol Cell Biol 20:900-911
24. Schreiber E, Matthias P, Muller MM, Schaffner W 1988 Identification of a novel lymphoid specific octamer binding protein (OTF-2B) by proteolytic clipping bandshift assay (PCBA). EMBO J 7:4221-4229
25. Gauthier BR, Schwitzgebel VM, Zaiko M, Mamin A, Ritz-Laser B, Philippe J 2002 Hepatic nuclear factor-3 (HNF-3 or Foxa2) regulates glucagon gene transcription by binding to the G1 and G2 promoter elements. Mol Endocrinol 16:170-183
26. Antras J, Lasnier F, Pairault J 1991 Adipsin gene expression in 3T3-F442A adipocytes is posttranscriptionally down-regulated by retinoic acid. J Biol Chem 266:1157-1161
27. Ritz-Laser B, Estreicher A, Klages N, Saule S, Philippe J 1999 Pax-6 and Cdx-2/3 interact to activate glucagon gene expression on the G1 control element. J Biol Chem 274:4124-4132
28. Macfarlane WM, Frayling TM, Ellard S, Evans JC, Allen LI, Bulman MP, Ayres S, Shepherd M, Clark P, Millward A, Demaine A, Wilkin T, Docherty K, Hattersley AT 1999 Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes. J Clin Invest 104:R33-R39
29. Peshavaria M, Henderson E, Sharma A, Wright CV, Stein R 1997 Functional characterization of the transactivation properties of the PDX-1 homeodomain protein. Mol Cell Biol 17:3987-3996
30. Ohlsson H, Karlsson K, Edlund T 1993 IPF1, a homeodomain-containing transactivator of the insulin gene. EMBO J 12:4251-4259
31. Glick E, Leshkowitz D, Walker MD 2000 Transcription factor β2 acts cooperatively with E2A and PDX1 to activate the insulin gene promoter. J Biol Chem 275:2199-2204
32. Peers B, Leonard J, Sharma S, Teitelman G, Montminy MR 1994 Insulin expression in pancreatic islet cells relies on cooperative interactions between the helix loop helix factor E47 and the homeobox factor STF-1. Mol Endocrinol 8:1798-1806
33. Gerrish K, Cissell MA, Stein R 2001 The role of hepatic nuclear factor 1α and PDX-1 in transcriptional regulation of the pdx-1 gene. J Biol Chem 276:47775-47784
34. Smith SB, Ee HC, Conners JR, German MS 1999 Paired-homeodomain transcription factor PAX4 acts as a transcriptional repressor in early pancreatic development. Mol Cell Biol 19:8272-8280
35. Chakrabarti SK, James JC, Mirmira RG 2002 Quantitative assessment of gene targeting in vitro and in vivo by the pancreatic transcription factor, Pdx1. Importance of chromatin structure in directing promoter binding. J Biol Chem 277:13286-13293
36. Moede T, Leibiger B, Pour HG, Berggren P, Leibiger IB 1999 Identification of a nuclear localization signal, RRMKWKK, in the homeodomain transcription factor PDX-1. FEBS Lett 461:229-234
37. Dutta S, Gannon M, Peers B, Wright C, Bonner-Weir S, Montminy M 2001 PDX:PBX complexes are required for normal proliferation of pancreatic cells during development. Proc Natl Acad Sci USA 98:1065-1070
38. Eeckhoute J, Formstecher P, Laine B 2001 Maturity-onset diabetes of the young Type 1 (MODY1)-associated mutations R154X and E276Q in hepatocyte nuclear factor 4α (HNF4α) gene impair recruitment of p300, a key transcriptional co-activator. Mol Endocrinol 15:1200-1210
39. Brissova M, Shiota M, Nicholson WE, Gannon M, Knobel SM, Piston DW, Wright CV, Powers AC 2002 Reduction in pancreatic transcription factor PDX-1 impairs glucose-stimulated insulin secretion. J Biol Chem 277:11225-11232
40. Edlund H 1998 Transcribing pancreas. Diabetes 47:1817-1823
41. Edlund H 2001 Factors controlling pancreatic cell differentiation and function. Diabetologia 44:1071-1079
42. McKinnon CM, Docherty K 2001 Pancreatic duodenal homeobox-1, PDX-1, a major regulator of β cell identity and function. Diabetologia 44:1203-1214
43. Schwitzgebel VM 2001 Programming of the pancreas. Mol Cell Endocrinol 185:99-108
44. Hui H, Perfetti R 2002 Pancreas duodenum homeobox-1 regulates pancreas development during embryogenesis and islet cell function in adulthood. Eur J Endocrinol 146:129-141
45. Milan M, Diaz-Benjumea FJ, Cohen SM 1998 Beadex encodes an LMO protein that regulates Apterous LIM-homeodomain activity in Drosophila wing development: a model for LMO oncogene function. Genes Dev 12:2912-2920
46. Grapin-Botton A, Majithia AR, Melton DA 2001 Key events of pancreas formation are triggered in gut endoderm by ectopic expression of pancreatic regulatory genes. Genes Dev 15:444-454
47. Seidman JG, Seidman C 2002 Transcription factor haploinsufficiency: when half a loaf is not enough. J Clin Invest 109:451-455
48. Kornitzer D, Ciechanover A 2000 Modes of regulation of ubiquitin-mediated protein degradation. J Cell Physiol 182:1-11
49. Hershko A, Ciechanover A, Varshavsky A 2000 Basic Medical Research Award. The ubiquitin system. Nat Med 6:1073-10781
50. Kishi A, Nakamura T, Nishio Y, Maegawa H, Kashiwagi A 2003 Sumoylation of Pdx1 is associated with its nuclear localization and insulin gene activation. Am J Physiol 284:E830-E840
51. +/- mice. J Clin Invest 111:1147-1160