Loss of HNF-1α Function in Mice Leads to Abnormal Expression of Genes Involved in Pancreatic Islet Development and Metabolism

Diabetes

Volumn 50, Issue 7-12, 2001, Pages 2472-2480

  Shih, David Q ^a   Screenan, Seamus ^b   Munoz, Karla N ^a   Philipson, Lou ^b   Pontoglio, Marco ^c   Yaniv, Moshe ^c   Polonsky, Kenneth S ^b,c   Stoffel, Markus ^a  

^a ROCKEFELLER UNIVERSITY   (United States)

^b UNIVERSITY OF CHICAGO   (United States)

^c INSTITUT PASTEUR   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CELL RECEPTOR; DNA BINDING PROTEIN; GLUCOSE; HEPATOCYTE NUCLEAR FACTOR 1; HEPATOCYTE NUCLEAR FACTOR 1ALPHA; HEPATOCYTE NUCLEAR FACTOR 1BETA; INSULIN; NUCLEAR PROTEIN; SMALL HETERODIMER PARTNER PROTEIN; TCF1 PROTEIN, MOUSE; TCF2 PROTEIN, MOUSE; TRANSCRIPTION FACTOR;

ANIMAL; ARTICLE; CELL LINE; DRUG ANTAGONISM; FETUS; GENE EXPRESSION; GENETICS; IN VITRO STUDY; LIVER; METABOLISM; MOUSE; MOUSE MUTANT; PANCREAS ISLET; PHYSIOLOGY; PRENATAL DEVELOPMENT; REFERENCE VALUE; SECRETION; TRANSACTIVATION;

ANIMALS; CELL LINE; DNA-BINDING PROTEINS; FETUS; GENE EXPRESSION; GLUCOSE; HEPATOCYTE NUCLEAR FACTOR 1; HEPATOCYTE NUCLEAR FACTOR 1-ALPHA; HEPATOCYTE NUCLEAR FACTOR 1-BETA; INSULIN; ISLETS OF LANGERHANS; LIVER; MICE; MICE, KNOCKOUT; NUCLEAR PROTEINS; RECEPTORS, CYTOPLASMIC AND NUCLEAR; REFERENCE VALUES; TRANS-ACTIVATION (GENETICS); TRANSCRIPTION FACTORS;

EID: 0035512077     PISSN: 00121797     EISSN: None     Source Type: Journal    
DOI: 10.2337/diabetes.50.11.2472     Document Type: Article

References (59)

1. Fajans SS: Maturity-onset diabetes of the young (MODY). Diabetes Metab Rev 5:579-606, 1989
2. Vionnet N, Stoffel M, Takeda J, Yasuda K, Bell GI, Zouali H, Lesage S, Velho G, Iris F, Passa P, Froguel P, Cohen D: Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus. Nature 356:721-722, 1992
3. Yamagata K, Furuta H, Oda N, Kaisaki PJ, Menzel S, Cox NJ, Fajans SS, Signorini S, Stoffel M, Bell GI: Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young. Nature 384: 458-460, 1996
4. Yamagata K, Oda N, Kaisaki PJ, Furuta H, Vaxillaire M, Southam L, Cox RD, Lathrop GM, Boriraj VV, Chen X, Cox NJ, Oda Y, Yano H, Le Beau MM, Yamada S, Nishigori H, Takeda J, Fajans SS, Hattersley AT, Iwasaki N, Hansen T, Pedersen O, Polonsky KS, Bell GI: Mutations in the hepatoryte nuclear factor-1alpha gene in maturity-onset diabetes of the young. Nature 384:455-458, 1996
5. Stoffers A, Ferrer J, Clarke WL, Habener JF: Early-onset type-II diabetes mellitus (MODY4) linked to IPF1. Nat Genet 17:138-139, 1997
6. Horikawa Y, Iwasaki N, Hara M, Furuta H, Hinokio Y, Cockburn BN, Lindner T, Yamagata K, Ogata M, Tomonaga O, Kuroki H, Kasahara T, Iwamoto Y, Bell GI: Mutation in hepatocyte nuclear factor-1 beta gene (TCP2) associated with MODY. Nat Genet 17:384-385, 1997
7. Malecki MT, Jhala US, Antonellis A, Fields L, Doria A, Orban T, Saad M, Warram JH, Montminy M, Krolewski AS: Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus. Nat Genet 23:323-328, 1999
8. Steiner DF, Tager HS, Chan SJ, Nanjo K, Sanke T, Rubenstein AH: Lessons learned from molecular biology of insulin-gene mutations. Diabetes Care 13:600-609, 1990
9. Duncan SA, Navas MA, Dufort D, Rossant J, Stoffel M: Regulation of a transcription factor network required for differentiation and metabolism. Science 281:692-695, 1998
10. Wu KL, Gannon M, Peshavaria M, Offield MF, Henderson E, Ray M, Marks A, Gamer LW, Wright CV, Stein R: Hepatocyte nuclear factor 3beta is involved in pancreatic beta-cell-specific transcription of the pdx-1 gene. Mol Cell Biol 17:6002-6013, 1997
11. Gerrish K, Gannon M, Shin D, Henderson E, Stoffel M, Wright CV, Stein R: Pancreatic beta cell-specific transcription of the pdx-1 gene: the role of conserved upstream control regions and their hepatic nuclear factor 3beta sites. J Biol Chem 275:3485-3494, 2000
12. Ben-Shushan E, Marshak S, Shoshkes M, Cerasi E, Melloul D: A pancreatic β-cell-speciflc 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, 2001
13. Kuo CJ, Conley PB, Chen L, Sladek FM, Darnell JE Jr, Crabtree GR: A transcriptional hierarchy involved in mammalian cell-type specification. Nature 355:457-461, 1992
14. Duncan SA, Nagy A, Chan W: Murine gastrulation requires HNF-4 regulated gene expression in the visceral endoderm: tetraploid rescue of Hnf-4α(-/-) embryos. Development 124:279-287, 1997
15. Stoffel M, Duncan SA: The maturity-onset diabetes of the young (MODY1) transcription factor HNF4alpha regulates expression of genes required for glucose transport and metabolism. Proc Natl Acad Sci U S A 94:13209-13214, 1997
16. Gragnoli C, Lindner T, Cockburn BN, Kaisaki PJ, Gragnoli F, Marozzi G, Bell GI: Maturity-onset diabetes of the young due to a mutation in the hepatocyte nuclear factor-4 alpha binding site in the promoter of the hepatocyte nuclear factor-1 alpha gene. Diabetes 46:1648-1651, 1997
17. Barbacci E, Reber M, Ott M, Breillat C, Huetz F, Cereghini S: Variant hepatocyte nuclear factor 1 is required for visceral endoderm specification. Development 126:4795-4805, 1999
18. Coffinier C, Thepot D, Babinet C, Yaniv M, Barra J: Essential role for the homeoprotein vHNF1/HNF1beta in visceral endoderm differentiation. Development 126:4785-4794, 1999
19. Mendel DB, Crabtree GR: A member of a novel class of dimerizing homeodomain proteins. J Biol Chem 266:677-680, 1991
20. Blumenfeld M, Maury M, Chouard T, Yaniv M, Condamine H: Hepatic nuclear factor 1 (HNF1) shows a wider distribution than products of its known target genes in the developing mouse. Development 113:589-599, 1991
21. Pontoglio M, Barra J, Hadchouel M, Doyen A, Kress C, Bach JP, Babinet C, Yaniv M: Hepatocyte nuclear factor 1 inactivation results in hepatic dysfunction, phenylketonuria, and renal Fanconi syndrome. Cell 84:575-585, 1996
22. Lee YH, Sauer B, Gonzalez FJ: Laron dwarfism and non-insulin-dependent diabetes mellitus in the Hnf-1alpha knockout mouse. Mol Cell Biol 18:3059-3068, 1998
23. Shih DQ, Bussen M, Sehayek E, Ananthanarayanan M, Shneider BL, Suchy FJ, Shefer S, Bollileni JS, Gonzalez FJ, Breslow JL, Stoffel M: Hepatocyte nuclear factor-1alpha is an essential regulator of bile acid and plasma cholesterol metabolism. Nat Genet 27:375-382, 2001
24. Lehto M, Tuomi T, Mahtani MM, Widen E, Forsblom C, Sarelin L, Gullstrom M, Isomaa B, Lehtovirta M, Hyrkko A, Kanninen T, Orho M, Manley S, Turner RC, Brettin T, Kirby A, Thomas J, Duyk G, Lander E, Taskinen MR, Groop L: Characterization of the MODY3 phenotype: early-onset diabetes caused by an insulin secretion defect. J Clin Invest 99:582-591, 1997
25. Byrne MM, Sturis J, Menzel S, Yamagata Y, Fajans SS, Dronsfield MJ, Bain SC, Hattersley AT, Velho G, Froguel P, Bell GI, Polonsky KS: Altered insulin secretory response to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on chromosome 12. Diabetes 46:1503-1511, 1996
26. Yamagata K, Yang Q, Yamamoto K, Iwahashi H, Miyagawa J, Okita K, Yoshiuchi I, Miyazaki J, Noguchi T, Nakajima H, Namba M, Hanafusa T, Matsuzawa Y: Mutation P291fsinsC in the transcription factor hepatocyte nuclear factor-1alpha is dominant negative. Diabetes 47:1231-1235, 1998
27. Pontoglio M, Sreenan S, Roe M, Pugh W, Ostrega D, Doyen A, Pick AJ, Baldwin A, Velho G, Froguel P, Levisetti M, Bonner-Weir S, Bell GI, Yaniv M, Polonsky KS: Defective insulin secretion in hepatocyte nuclear factor 1alpha-deficient mice. J Clin Invest 101:2215-2222, 1998
28. Dukes ID, Sreenan S, Roe MW, Levisetti M, Zhou YP, Ostrega D, Bell GI, Pontoglio M, Yaniv M, Philipson L, Polonsky KS: Defective pancreatic beta-cell glycolytic signaling in hepatocyte nuclear factor-1alpha-deflcient mice. J Biol Chem 273:24457-24464, 1998
29. Parrizas M, Maestro MA, Boj SF, Paniagua A, Casamitjana R, Gomis R, Rivera F, Ferrer J: Hepatic nuclear factor 1-α directs nucleosomal hyper-acetylation to its tissue-specific transcriptional targets. Mol Cell Biol 21:3234-3243, 2001
30. Wang H, Maechler P, Hagenfeldt KA, Wollheim CB: Dominant-negative suppression of HNF-1α function results in defective insulin gene transcription and impaired metabolism-secretion coupling in a pancreatic β-cell line. EMBO J 17:6701-6713, 1998
31. Wang H, Antinozzi PA, Hagenfeldt KA, Maechler P, Wollheim CB: Molecular targets of a human HNF1α mutation responsible for pancreatic β-cell dysfunction. AWBO J 19:4257-4264, 2000
32. Sturis J, Pugh WL, Tang J, Polonsky KS: Prevention of diabetes does not completely prevent insulin secretory defects in the ZDF rat. Am J Physiol 269:E786-E792, 1995
33. Wilson PA, Melton DA: Mesodermal patterning by an inducer gradient depends on secondary cell-cell communication. Curr Biol 4:676-686, 1994
34. Alam J, Cook JL: Reporter genes: application to the study of mammalian gene transcription. Anal Biochem 188:245-254, 1990
35. Webb GC, Akbar MS, Zhao C, Steiner DF: Expression profiling of pancreatic beta cells: glucose regulation of secretory and metabolic pathway genes. Proc Natl Acad Sci U S A 97:5773-5778, 2000
36. MacDonald MJ, Kowluru A: Evidence for calcium enhanced phosphorylation of pyruvate kinase by pancreatic islets. Mol Cell Biochem 68:107-114, 1985
37. MacDonald MJ, Kowluru A, Chang CM: Evidence for phosphorylation of pancreatic islet pyruvate kinase. Metabolism 34:600-603, 1985
38. Seol W, Choi HS, Moore DD: An orphan nuclear hormone receptor that lacks a DNA binding domain and heterodimerizes with other receptors. Science 272:1336-1369, 1996
39. Lee YK, Dell H, Dowhan DH, Hadzopoulou-Cladaras M, Moore DD: The orphan nuclear receptor SHP inhibits hepatocyte nuclear factor 4 and retinoid X receptor transactivation: two mechanisms for repression. Mol Cell Biol 20:187-195, 2000
40. Lee HK, Lee YK, Park SH, Kim YS, Lee JW, Kwon HB, Soh J, Moore DD, Cho HS: Structure and expression of the orphan nuclear receptor SHP gene. J Biol Chem 273:14398-14402, 1998
41. Grupe A, Hultgren B, Ryan A, Ma YH, Bauer M, Stewart TA: Transgenic knockouts reveal a critical requirement for pancreatic beta cell glucokinase in maintaining glucose homeostasis. Cell 83:69-78, 1995
42. Guillam MT, Hummler E, Schaerer E, Yeh JI, Birnbaum MJ, Beermann F, Schmidt A, Deriaz N, Thorens B, Wu JY: Early diabetes and abnormal postnatal pancreatic islet development in mice lacking Glut-2. Nat Genet 17:327-330, 1997
43. Tsukuda N, Gabler WL: The influence of doxycycline of the attachment of fibroblasts to gelatin-coated surfaces and its cytotoxicity. J Periodontol 64:1219-1224, 1993
44. Saez E, No D, West A, Evans RM: Inducible gene expression in mammalian cells and transgenic mice. Curr Opin Biotechnol 8:608-616, 1997
45. Chouard T, Blumenfeld M, Bach I, Vandekerckhove J, Cereghini S, Yaniv M: A distal dimerization domain is essential for DNA-binding by the atypical HNF1 homeodomain. Nucleic Acids Res 18:5853-5863, 1990
46. Asfari M, Janijic D, Meda P, Li G, Halban PA, Wollheim CB: Establishment of 2-mercaptoethanol-dependent differentiated insulin-secreting cell lines. Endocrinology 130:167-178, 1992
47. Mitchell SMS, Thomas H, Jaschkowitz K, Bulman MP, Frayling TM, Ellard S, Tack C, Ryffel GU, Hattersley AT: A mutation of a novel splice variant of HNF-4α co-segregates with MODY. Diabetologia. In press
48. Byrne MM, Sturis J, Fajans SS, Stoltz A, Oritz FJ, Stoffel M, Smith MJ, Bell GI, Halter JB, Polonsky KS: Altered insulin secretory responses to glucose in subjects with mutation in the MODY1 gene on chromosome 20. Diabetes 44:699-705, 1994
49. Shih DQ, Dansky HM, Fleisher M, Assmann G, Fajans SS, Stoffel M: Genotype phenotype relationships in HNF-4a/MODY1. Haploinsufficiency is associated with reduced apolipoprotein (AII), apolipoprotein (CIII), lipoprotein (a), and triglyceride levels. Diabetes 49:832-837, 2000
50. Jonsson J, Carlson L, Edlund T, Edlund H: Insulin-promoter-factor 1 is required for pancreas development in mice. Nature 371:606-609, 1994
51. Ahlgren U, Jonsson J, Jonsson L, Simu K, Edlund H: Beta-cell-specific inactivation of the mouse Ipf1/Pdx1 gene results in loss of the beta-cell phenotype and maturity onset diabetes. Genes Dev 12:1763-1768, 1998
52. Waeber G, Thompson N, Nicod P, Bony C: Transcriptional activation of the GLUT2 gene by the IPF-1/STF-1/IDX-1 homeobox factor. Mol Endocrinol 10:1327-1334, 1998
53. Carty MD, Lillquist JS, Peshavaria M, Stein R, Soeller WC: Identification of cis- and trans-active factors regulating human islet amyloid polypeptide gene expression in pancreatic beta-cells. J Biol Chem 272:11986-11993, 1997
54. Melloul D, Ben-Neriah Y, Cerasi E: Glucose modulates the binding of an islet-specific factor to a conserved sequence within the rat 1 and the human insulin promoters. Proc Natl Acad Sci U S A 90:3865-3969, 1993
55. Dumonteil E, Laser B, Constant I, Philippe J: Differential regulation of the glucagon and insulin I gene promoters by the basic helix-loop-helix transcription factors E47 and BETA2. J Biol Chem 273:19945-19954, 1998
56. Emens LA, Landers DW, Moss LG: Hepatocyte nuclear factor 1 alpha is expressed in a hamster insulinoma line and transactivates the rat insulin I gene. Proc Natl Acad Sci U S A 89:7300-7304, 1992
57. Nishigori H, Tomura H, Tonooka N, Kanamori M, Yamada S, Sho K, Inoue I, Kikuchi N, Onigata K, Kojima I, Kohama T, Yamagata K, Yang Q, Matsuzawa Y, Miki T, Seino S, Kim MY, Choi HS, Lee YK, Moore DD, Takeda J: Mutations in the small heterodimer partner gene are associated with mild obesity in Japanese subjects. Proc Natl Acad Sci U S A 98:575-580, 2001
58. Vaulont S, Puzenat N, Levrat B, Cognet M, Kahn A, Raymondjean M: Proteins binding to the liver specific pyruvate kinase gene promoter: a unique combination of known factors. J Mol Biol 209-215, 1989
59. Citron BA, Davis MD, Milstien S, Gutierrez J, Mendel DB, Crabtree GR, Kaufman S: Identity of 4a-carbinolamine dehydratase, a component of the phenylalanine hydroxylation system, and DCoH, a transregulator of homeodomain proteins. Proc Natl Acad Sci U S A 89:11891-11894, 1992