Naturally occurring mutations in the human HNF4α gene impair the function of the transcription factor to a varying degree

Nucleic Acids Research

Volumn 28, Issue 2, 2000, Pages 430-437

  Lausen, Jörn ^a   Thomas, Heike ^a   Lemm, Ira ^a,b   Bulman, Michael ^c   Borgschulze, Michael ^a   Lingott, Anja ^a   Hattersley, Andrew T ^c   Ryffel, Gerhart U ^a  

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

^b UNIVERSITY OF WISCONSIN MADISON   (United States)

^c NONE

Author keywords

[No Author keywords available]

Indexed keywords

HEPATOCYTE NUCLEAR FACTOR 4ALPHA; NUCLEAR FACTOR; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

ARTICLE; ASSAY; BINDING SITE; CONTROLLED STUDY; GENE MUTATION; GENETIC TRANSCRIPTION; GENETIC TRANSFECTION; HEPATOMA CELL; HUMAN; HUMAN CELL; PRIORITY JOURNAL; REPORTER GENE;

BASIC HELIX-LOOP-HELIX LEUCINE ZIPPER TRANSCRIPTION FACTORS; DNA-BINDING PROTEINS; HEPATOCYTE NUCLEAR FACTOR 1; HEPATOCYTE NUCLEAR FACTOR 1-ALPHA; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HEPATOCYTE NUCLEAR FACTOR 4; HUMANS; MUTAGENESIS, SITE-DIRECTED; NUCLEAR PROTEINS; PHOSPHOPROTEINS; PROMOTER REGIONS (GENETICS); TRANS-ACTIVATION (GENETICS); TRANSCRIPTION FACTORS; TUMOR CELLS, CULTURED;

EID: 0034650296     PISSN: 03051048     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (53)

1. Sladek, F.M. (1994) Liver Specific Gene Expression. R.G. Landes Co.. Austin, TX.
2. Cereghini, S. (1996) FASEB J., 10, 267-282.
3. Nuclear Receptors Nomenclature Committee (1999) Cell, 97. 161-163.
4. Holewa, B., Zapp, D., Drewes, T., Senkel, S. and Ryffel, G.U. (1997) Mol. Cell. Biol., 17, 687-694.
5. 0rewes, T., Senkel, S., Holewa, B. and Ryffel, G.U. (1996) Mol. Cell. Biol., 16, 925-931.
6. Hertz, R., Magenheim, J., Berman, I. and Bar-Tana, J. ( 1998) Nature. 392. 512-516.
7. Kuo, C. J., Conley, P.B., Chen, L., Sladek, F.M., Darnell, J.E., Jr and Crabtree, G.R. (1992) Nature, 355, 457-461.
8. Zhong, W., Mirkovitch, J. and Darnell,E.,Jr (1994) Mol Cell. Biol., 14. 7276-7284.
9. Bulla, G.A. (1997) Nucleic Acids Res., 25, 2501-2508.
10. Bailly, A., Spaeth, G., Bender, V. and Weiss, M.C. (1998) J. Cell Sci., 111. 2411-2421.
11. Spaeth, G.F. and Weiss, M. (1998) J. Cell Biol., 140,935-946.
12. Holewa, B., Pogge v. Strandmann, E., Zapp, D., Lorenz, P. and Ryffel, G.U. (1996) Mech. Del., 54,45-57.
13. Zhong, W., Sladek, F.M. and Darnell, E.,Jr (1993) EMBO J., 12.537-544.
14. Duncan, S.A., Manova, K., Chen, W.S., Hoodless, P., Weinstein,D.C., Bachvarova, R.F. andDarnell, J.E.,Jr (1994) Proc. Natl Acad. Sci. USA, 91, 7598-7602.
15. Nakhei,H., Lingott, A., Lemm,I. and Ryffel, G.U. ( 1998) Nucleic Acids Rex., 26, 497-504.
16. Chen, W.S., Manova, K., Weinstein,D.C., Duncan, S.A., Plump, A.S., Prezioso, V.R., Bachvarova, R.F. and Damell, J.E.Jr (1994) Genes Dev., 8, 2466-2477.
17. Duncan, S.A., Nagy, A. and Chan, W. (1997) Development. 124, 279-287.
18. Sel, S., Ebert,T., Ryffel, G.U. and Drewes, T. (1996) Cancer Lett., 101. 205-210.
19. Yamagata, K., Furuta, H., Oda, N., Kaisaki, P.J., Menzel,S.. Cox.N.J., Fajans, S.S., Signorini, S., Stoffel, M. and Bell, G.I. (1996) Nature, 384, 458-460.
20. Hattersley, A.T. (1998) Diabet. Med., 15, 15-24.
21. Lindner, T., Gragnoli, C, Furuta,H., Cockburn, B.N., Petzold, C., Rietzsch, H., Weiss, U., Schulze, J. and Bell, G.I. (1997) J. Clin. Invest., 100, 1400-1405.
22. Moller, AM., Dalgaard, L.T., Ambye.L, Hansen, L., Schmitz.O., Hansen, T. and Pedersen,O. (1999) J. Clin. Endocrinol. Metah., 84. 367-369.
23. Lehto, M., Bitzen, P.O., Isomaa, B., Wipemo.C, Wessman.Y., Forsblom, C., Tuomi, T., Taskinen, M.R. and Groop, L. (1999) Diabetes, 48, 423-25.
24. Malecki, M.T., Yang, Y., Antonellis, A., Curtis, S., Warram, J.H. and Krolewski, A.S. (1999) Diabet. Med., 16, 193-200.
25. Furuta, H., Iwasaki, N., Oda, N., Hinokio, Y., Horikawa, Y., Yamagata, K., Yano, N., Sugahiro, J., Ogata, M., Ohgawara, H. et al. ( 1997) Diabetes, 46. 1652-1657.
26. Moller, A.M., Urhammer, S.A., Dalgaard, L.T., Reneland, R., Berglund, L., Hansen, T., Clausen, J.O., Lithell, H. and Pedersen,O. (1997) Diabetologia, 40, 980-983.
27. Bulman, M.P., Dronsfield, M.J., Frayling.T., Appleton.M., Bain.S.C., Ellard,S. and Hattersley,A.T. ( 1997) Diabetologia, 40, 859-862.
28. Hani,E.H., Suaud,L., Boutin,P., Chevre.J.C., Durand,E., Philippi,A., Demenais,F., Vionnet,N., Furuta,H., Velho,G. et al. (1998) J. Clin. Invest., 101,521-526.
29. Gragnoli,C., Lindner,T., Cockburn,B.N., Kaisaki,P.J., Gragnoli.F.. Marozzi,G. and Bell,G.I. (1997) Diabetes, 46, 1648-1651.
30. Rupp,R.A., Snider,L. and Weintraub,H. (1994) Genes Dev., 8, 1311-1323.
31. Drewes,T., Clairmont,A., Klein-Hitpass,L. and Ryffel,G.U. (1994) Eur. J. Biochem., 225,441-448.
32. Weber,H., Holewa,B., Jones,E.A. and Ryffel,G.U. (1996) Development. 122,1975-1984.
33. Dai,P.H., Lan,S.S., Ding,X.H. and Chao,Y.S. (1990)Eur. J. Biochem., 190,305-310.
34. Chan,J., Nakabayashi,H. and Wong,N.C. (1993) Nucleic Acids Res., 21, 1205-1211.
35. Nordeen,S.K. (1988) Biotechniques, 6, 454-458.
36. Kaisaki,PJ., Menzei,S., Lindner,T., Oda,N., Rjasanowski,I., Sahm,J., Meincke,G., Schulze,J., Schmechel,H., Petzold.C. et al. ( 1997) Diabetes,46,528-535,
37. Zapp,D., Bankowski,S, Holewa.B., Zoidl,C., Klein-Hitpass,L. and Ryffel,G.U. (1993) Mol. Cell. Biol., 13, 6416-6426.
38. Pogge v. Strandmann,E., Zoidl,C., Nakhei,H., Holewa.B., Pogge,V., Strandmann,R., Lorenz,P., Klein-Hitpass,L. and Ryffel,G.U. (1995) Protein Eng., 8, 733-735.
39. Dobbeling,U., Ross,K., Klein-Hitpass,L., Morley,C., Wagner,U. and Ryffel,G.U. (1988) EMBO J., 7, 2495-2501.
40. Sladek,F.M., Dallas-Yang,Q. and Nepomuceno,L. (1998) Diabetes, 47, 985-990.
41. Knowles,B.B., Howe,C.C. and Aden,D.P. (1980) Science, 209, 497-499.
42. Ryffel,G.U. and Lingott,A. (2000) Mech. Dev., 90, 65-75.
43. Stoffel,M. and Duncan,S.A. ( 1997) Proc. Natl Acad. Sci. USA, 94, 13209-13214.
44. Hadzopoulou-Cladaras,M., Kistanova,E., Evagelopoulou,C., Zeng,S.Y., Cladaras,C. and Ladias,J.A.A. (1997) J. biol. Chem., 272, 539-550.
45. Navas,M.A., Munoz-Elias,E.J., Kim,J., Shih,D. and Stoffel,M. (1999) Diabetes, 48, 1459-1465.
46. Suaud,L., Hemimou,Y., Formstecher,P. and Laine,B. (1999) Diabetes, 48, 1162-1167.
47. Taylor,D.G., Haubenwallner,S. and Leff,T. (1996) Nucleic Acids Res., 24, 2930-2935.
48. Fraser,J.D., Keller,D., Martinez, V., Santisomere,D., Straney,R. and Briggs,M.R. (1997) J. Biol. Chem., 272, 13892-13898.
49. Taraviras,S., Schütz,G. and Kelsey,G. (1997) Eur. J. Biochem., 244, 883-889.
50. Eng,C. and Ponder,B.A. (1993) FASEB J., 7, 910-919.
51. Fearon,E.R. (1997) Science, 278, 1043-1050.
52. Qian,F., Watnick,T.J., Onuchic,L.F. and Germino,G.G. (1996) Cell, 87, 979-987.
53. Qian,F. and Germino,G.G. (1997) Am. J. Hum. Genet., 61, 1000-1005.