The human HNF-3 genes: Cloning, partial sequence and mutation screening in patients with impaired glucose homeostasis

Human Heredity

Volumn 50, Issue 6, 2000, Pages 370-381

  Navas, M Angeles ^a   Vaisse, Christian ^a,b   Boger, Stephanie ^a   Heimesaat, Markus ^a   Kollee, Louis A ^c   Stoffel, Markus ^a  

^a ROCKEFELLER UNIVERSITY   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

Author keywords

Diabetes mellitus; Hepatocyte nuclear factor; Hypoglycemia; Polymorphisms

Indexed keywords

NUCLEAR FACTOR;

AMINO ACID SEQUENCE; ARTICLE; FAMILIAL DISEASE; GENE STRUCTURE; GENETIC VARIABILITY; GLUCOSE HOMEOSTASIS; HUMAN; HYPOGLYCEMIA; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOLECULAR CLONING; NON INSULIN DEPENDENT DIABETES MELLITUS; NUCLEOTIDE SEQUENCE;

EID: 0033940358     PISSN: 00015652     EISSN: None     Source Type: Journal    
DOI: 10.1159/000022943     Document Type: Article

References (39)

1. 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-4 alpha gene in maturity-onset diabetes of the young (MODY 1). Nature 1996; 384:458-460.
2. Yamagata K, Oda N, Kaisaki PJ, Menzel S, 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, Turner RC, Velho G. Chevre JC, Froguel P. Bell GI: Mutations in the hepatocyte nuclear factor-1-alpha gene in maturity-onset diabetes of the young (MODY3). Nature 1996; 384:455-458.
3. Stoffers DA, Ferrer J, Clarke WL, Habener JF: Early-onset type-II diabetes mellitus (MODY4) linked to IPFI. Nat Genet 1997;17:138-139.
4. 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 (TCF2) associated with MODY. Nat Genet 1997;17:384-385.
5. 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 1992;356:721-722.
6. Byrne MM, Sturis J, Clement K, Vionnet N. Pueyo ME, Stoffel M, Takeda J, Passa P, Cohen D. Bell GI, Velho G, Froguel P, Polonsky KS: Insulin secretory abnormalities in subjects with hyperglycemia due to glucokinase mutations. J Clin Invest 1994;93:1120-11.30.
7. Byrne MM, Sturis J, Menzel S, Yamagata K, Fajans SS, Dronsfield MJ, Bain SC, Hattersley AT, Velho G, Froguel P, Bell GI, Polonsky KS: Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on chromosome 12. Diabetes 1996; 45:1503-1510.
8. Byrne MM, Sturis J, Fajans SS, Ortiz FJ, Stoltz A, Stoffel M, Smith MJ, Bell GI, Halter JB, Polonsky KS: Altered insulin secretory responses to glucose in subjects with a mutation in the MODY1 gene on chromosome 20. Diabetes 1995;44:699-704.
9. Froguel P, Zouali H, Vionnet N, Velho G, Vaxillaire M, Sun F, Lesage S, Stoffel M, Takeda J, Passa P, Permutt MA, Beckmann JS, Bell GI, Cohen D: Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus. N Engl J Med 1993;328:697-702.
10. Lai E, Clark KL, Burley SK, Darnell JE Jr: Hepatocyte nuclear factor 3/fork head or 'winged helix' proteins: A family of transcription factors of diverse biologic function. Proc Natl Acad Sci U S A. 1993;90:10421-10423.
11. McPherson CE, Shim EY, Friedman DS, Zaret KS: An active tissue-specific enhancer and bound transcription factors existing in a precisely positioned nucleosomal array. Cell 1993; 75:387-398.
12. Shim EY, Woodcock C, Zaret KS: Nucleosome positioning by the winged helix transcription factor HNF3. Genes Dev 1998;12:5-10.
13. Costa RH: Hepatocyle nuclear factor 3/forkhead protein family: Mammalian transcription factors that possess divergent cellular expression patterns and binding specificities; in Tronche F, and Yaniv M (eds): Liver Gene Expression, Austin, Landes, 1994, pp 183-206.
14. Costa RH, Grayson DR, Darnell JE Jr: Multiple hepatocyte-enriched nuclear factors function in the regulation of transthyretin and alpha 1-antitrypsin genes. Mol Cell Biol 1989;9: 1415-1425.
15. Lai E, Prezioso VR, Smith E. Litvin O, Costa RH, Darnell JE Jr: HNF-3A, a hepatocyte-enriched transcription factor of novel structure is regulated transcriptionally. Genes Dev 1990; 4:1427-1436.
16. Lai E, Prezioso VR, Tao WF, Chen WS, Darnell JE Jr: Hepatocyte nuclear factor 3 alpha belongs to a gene family in mammals that is homologous to the Drosophila homeotic gene fork head. Genes Dev 1991;5:416-427.
17. Weinstein DC, Ruiz i Altaba A, Chen WS, Hoodless P, Prezioso VR, Jessell TM, Darnell JE Jr: The winged-helix transcription factor HNF-3 beta is required for notochord development in the mouse embryo. Cell. 1994;78:575-588.
18. Ang SL, Rossant J: HNF-3 beta is essential for node and notochord formation in mouse development. Cell 1994;78:561-574.
19. Kaestner KH, Katz J, Liu Y, Drucker DJ, Schutz G: Inactivation of the winged helix transcription factor HNF3alpha affects glucose homeostasis and islet glucagon gene expression in vivo. Genes Dev 1999;13:495-504.
20. Shih DQ, Navas MA, Kuwajima S, Duncan SA, Stoffel M: Impaired glueose homeostasis and neonatal mortality in hepatocyte nuclear factor 3alpha-deficient mice. Proc Natl Acad Sci USA 1999;96:10152-10157.
21. Kaestner KH, Hiemisch H, Schutz G: Targeted disruption of the gene encoding hepatocyte nuclear factor 3gamma results in reduced transcription of hepatocyte-specific genes. Mol Cell Biol 1998;18:4245-4251.
22. Duncan SA, Navas MA, Dufort D, Rossant J, Stoffel M: Regulation of a transcription factor network required for differentiation and metabolism. Science 1998;281:692-695.
23. 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 1997;17:6002-6013.
24. Leonard J, Peers B, Johnson T, Ferreri K, Lee S, Montminy MR: Characterization of somatostatin transactivating factor-1, a novel homeobox factor that stimulates somatostatin expression in pancreatic islet cells. Mol Endocrinol 1993;7:1275-1283.
25. Sambrook J, Fritsch EF, Maniatis T: Molecular Cloning, a Laboratory Manual, ed 2. Cold Spring Harbor, Cold Spring Harbor Laboratory Press, 1989.
26. Kaestner KH, Hiemisch H, Luckow B, Schutz G: The HNF-3 gene family of transcription factors in mice: Gene structure, cDNA sequence, and mRNA distribution Genomics 1994;20: 377-385.
27. Bingle CD, Gowan S: Molecular cloning of the forkhead transcription factor HNF-3 alpha from a human pulmonary adenocarcinoma cell line. Biochim Biophys Acta Gene Struct Expr 1996;1307:17-20
28. Hromas R, Moore J, Johnston T, Socha C, Klemsz M: Drosophila forkhead homologues are expressed in a lineage-restricted manner in human hematopoietic cells. Blood 1993;81: 2854-2859.
29. Navas MA, Munoz-Elias EJ, Kim J, Shin D, Stoffel M: Functional characterization of the MODY1 gene mutations HNF4(R127W), HNF4(V255M), and HNF4. Diabetes 1999;48: 1459-1465.
30. Grompe M: The rapid detection of unknown mutations in nucleic acids. Nat Genet 1993;5: 111-117.
31. Pani L, Overdier DG, Porcella A, Qian X, Lai E, Costa RH: Hepatocyte nuclear factor 3 beta contains two transcriptional activation domains, one of which is novel and conserved with the Drosophila fork head protein. Mol Cell Biol 1992;12:3723-3732.
32. Alam J, Cook JL: Reporter genes: Application to the study of mammalian gene transcription. Anal Biochem 1990;188:245-254.
33. Ye H, Kelly TF, Samadani U, Lim L, Rubio S, Overdier DG, Roebuck KA, Costa RH: Hepalocyte nuclear factor 3/fork head homolog 11 is expressed in proliferating epithelial and mesenchymal cells of embryonic and adult tissues. Mol Cell Biol 1997; 17:1626-1641.
34. Vidnes J, Oyasaeter S: Glucagon deficiency causing severe neonatal hypoglycemia in a patient with normal insulin secretion. Pediatr Res 1977;11:943-949.
35. Vidnes J: Persistent hereditary neonatal hypoglycemia caused by glucagon deficiency. Pediatr Res 1976;10:881-882.
36. Zuppinger KA: Hypoglycemia in Childhood. Evaluation of Diagnostic Procedures. Monogr in Pediatr. Karger, Basel, 1975, vol 4.
37. St-Onge L, Sosa-Pineda B. Chowdhury K, Mansouri A, Gruss P: Pax6 is required for differentiation of glucagon-producing alpha-cells in mouse pancreas. Nature 1997;387:406-409.
38. Ritz-Laser B. Estreicher A, Klages N. Saule S, Philippe J: Pax-6 and Cdx-2/3 interact to activate glucagon gene expression on the G1 control element. J Biol Chem. 1999;274: 4124-4132.
39. Philippe J, Morel C, Prezioso VR: Glucagon gene expression is negatively regulated by hepatocyte nuclear factor 3 beta. Mol Cell Biol 1994;14:3514-3523.