Functional defect of truncated hepatocyte nuclear factor-1α (G554fsX556) associated with maturity-onset diabetes of the young

Biochemical and Biophysical Research Communications

Volumn 383, Issue 1, 2009, Pages 68-72

  Kooptiwut, Suwattanee ^a   Sujjitjoon, Jatuporn ^a   Plengvidhya, Nattachet ^a   Boonyasrisawat, Watip ^a   Chongjaroen, Nalinee ^a   Jungtrakoon, Prapapron ^a   Semprasert, Namoiy ^a   Furuta, Hiroto ^b   Nanjo, Kishio ^b   Banchuin, Napatawn ^a   Yenchitsomanus, Pa thai ^a,c  

^a MAHIDOL UNIVERSITY   (Thailand)

^b WAKAYAMA MEDICAL UNIVERSITY   (Japan)

^c NATIONAL SCIENCE AND TECHNOLOGY DEVELOPMENT AGENCY   (Thailand)

Author keywords

Diabetes; Dual luciferase assay; Frameshift mutation; HNF 1 ; Maturity onset diabetes of the young; MODY; Thai

Indexed keywords

GLUCOSE TRANSPORTER 2; HEPATOCYTE NUCLEAR FACTOR 1ALPHA; LUCIFERASE; MUTANT PROTEIN; PYRUVATE KINASE;

ADULT; ARTICLE; CARBOXY TERMINAL SEQUENCE; CHILD; CONTROLLED STUDY; ENZYME ASSAY; FRAMESHIFT MUTATION; GEL MOBILITY SHIFT ASSAY; GENE DELETION; GENE INSERTION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC TRANSCRIPTION; GENETIC TRANSFECTION; HELA CELL; HUMAN; HUMAN CELL; MATURITY ONSET DIABETES MELLITUS; NONHUMAN; PANCREAS ISLET BETA CELL; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN ANALYSIS; PROTEIN BINDING; PROTEIN EXPRESSION; PROTEIN FUNCTION; RAT; RNA TRANSLATION; SCHOOL CHILD; THAILAND; TRANSACTIVATION; WILD TYPE;

ANIMALS; DIABETES MELLITUS, TYPE 2; ELECTROPHORETIC MOBILITY SHIFT ASSAY; GLUCOSE TRANSPORTER TYPE 2; HELA CELLS; HEPATOCYTE NUCLEAR FACTOR 1-ALPHA; HUMANS; PROMOTER REGIONS, GENETIC; PYRUVATE KINASE; RATS; SEQUENCE DELETION; TRANSCRIPTIONAL ACTIVATION;

RATTUS;

EID: 64949179143     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2009.03.130     Document Type: Article

References (30)

1. Fajans S., Bell G., Bowden D., Halter J., and Polonsky K. Maturity onset diabetes of the young (MODY). Diabet. Med. 13 (1996) S90-S95
2. Velho G., and Froguel P. Maturity-onset diabetes of the young (MODY), MODY genes and non-insulin-dependent diabetes mellitus. Diabetes Metab. 23 Suppl 2 (1997) 34-37
3. Winter W.E., Nakamura M., and House D.V. Monogenic diabetes mellitus in youth. The MODY syndromes. Endocrinol. Metab. Clin. North Am. 28 (1999) 765-785
4. Fajans S.S., Bell G.I., and Polonsky K.S. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N. Engl. J. Med. 345 (2001) 971-980
5. Beards F., Frayling T., Bulman M., Horikawa Y., Allen L., Appleton M., Bell G., Ellard S., and Hattersley A. Mutations in hepatocyte nuclear factor 1beta are not a common cause of maturity-onset diabetes of the young in the UK. Diabetes 47 (1998) 1152-1154
6. Hager J., Blanché H., Sun F., Vaxillaire N.V., Poller W., Cohen D., Czernichow P., Velho G., Robert J.J., Cohen N., and Froguel P. Six mutations in the glucokinase gene identified in MODY by using a nonradioactive sensitive screening technique. Diabetes 43 (1994) 730-733
7. Ng M.C., Cockburn B.N., Lindner T.H., Yeung V.T., Chow C.C., So W.Y., Li J.K., Lo Y.M., Lee Z.S., Cockram C.S., Critchley J.A., Bell G.I., and Chan J.C. Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte nuclear factor-1alpha genes in patients with early-onset type 2 diabetes mellitus/MODY. Diabet. Med. 16 (1999) 956-963
8. Nishigori H., Yamada S., Kohama T., Utsugi T., Shimizu H., Takeuchi T., and Takeda J. Mutations in the hepatocyte nuclear factor-1 alpha gene (MODY3) are not a major cause of early-onset non-insulin-dependent (type 2) diabetes mellitus in Japanese. J. Hum. Genet. 43 (1998) 107-110
9. N. Plengvidhya, W. Boonyasrisawat, N. Chongjaroen, P. Jungtrakoon, S. Sriussadaporn, S. Vannaseang, N. Banchuin, P. Yenchitsomanus, Mutations of maturity-onset diabetes of the young (MODY) genes in Thais with early-onset type 2 diabetes mellitus, Clin Endocrinol (Oxf). (2008) [Epub ahead of print].
10. Bach I., Galcheva-Gargova Z., Mattei M.G., Simon-Chazottes D., Guenet J.L., Cereghini S., and Yaniv M. Cloning of human hepatic nuclear factor 1 (HNF1) and chromosomal localization of its gene in man and mouse. Genomics 8 (1990) 155-164
11. Kuo C.J., Conley P.B., Hsieh C.L., Francke U., and Crabtree G.R. Molecular cloning, functional expression, and chromosomal localization of mouse hepatocyte nuclear factor 1. Proc. Natl. Acad. Sci. USA 87 (1990) 9838-9842
12. Rey-Campos J., Chouard T., Yaniv M., and Cereghini S. VHNF1 is a homeoprotein that activates transcription and forms heterodimers with HNF1. EMBO J. 10 (1991) 1445-1457
13. Shepherd L.M., Campbell S.C., and Macfarlane W.M. Transcriptional regulation of the IAPP gene in pancreatic beta-cells. Biochim. Biophys. Acta 1681 (2004) 28-37
14. Okita K., Yang Q., Yamagata K., Hangenfeldt K.A., Miyagawa J., Kajimoto Y., Nakajima H., Namba M., Wollheim C.B., Hanafusa T., and Matsuzawa Y. Human insulin gene is a target gene of hepatocyte nuclear factor-1alpha (HNF-1alpha) and HNF-1beta. Biochem. Biophys. Res. Commun. 263 (1999) 566-569
15. Cha J.Y., Kim H., Kim K.S., Hur M.W., and Ahn Y. Identification of transacting factors responsible for the tissue-specific expression of human glucose transporter type 2 isoform gene. Cooperative role of hepatocyte nuclear factors 1alpha and 3beta. J. Biol. Chem. 275 (2000) 18358-18365
16. Wang H., Antinozzi P.A., Hagenfeldt K.A., Maechler P., and Wollheim C.B. Molecular targets of a human HNF1 alpha mutation responsible for pancreatic beta-cell dysfunction. EMBO J. 19 (2000) 4257-4264
17. Wang H., Hagenfeldt-Johansson K., Otten L.A., Gauthier B.R., Herrera P.L., and Wollheim C.B. Experimental models of transcription factor-associated maturity-onset diabetes of the young. Diabetes 51 Suppl 3 (2002) S333-S342
18. Yamagata K., Nammo T., Moriwaki M., Ihara A., Iizuka K., Yang Q., Satoh T., Li M., Uenaka R., Okita K., Iwahashi H., Zhu Q., Cao Y., Imagawa A., Tochino Y., Hanafusa T., Miyagawa J., and Matsuzawa Y. Overexpression of dominant-negative mutant hepatocyte nuclear fctor-1 alpha in pancreatic beta-cells causes abnormal islet architecture with decreased expression of E-cadherin, reduced beta-cell proliferation, and diabetes. Diabetes 51 (2002) 114-123
19. Plengvidhya N., Kooptiwut S., Songtawee N., Doi A., Furuta H., Nishi M., Nanjo K., Tantibhedhyangkul W., Boonyasrisawat W., Yenchitsomanus P.T., Doria A., and Banchuin N. PAX4 mutations in Thais with maturity onset diabetes of the young. J. Clin. Endocrinol. Metab. 92 (2007) 2821-2826
20. Chiu J., March P.E., Lee R., and Tillett D. Site-directed, Ligase-Independent Mutagenesis (SLIM): a single-tube methodology approaching 100% efficiency in 4 h. Nucleic Acids Res. 32 (2004) 174
21. Parrizas M., Maestro M.A., Boj S.F., Paniagua A., Casamitjana R., Gomis R., Rivera F., and Ferrer J. Hepatic nuclear factor 1-alpha directs nucleosomal hyperacetylation to its tissue-specific transcriptional targets. Mol. Cell. Biol. 21 (2001) 3234-3243
22. Yamada K., Noguchi T., Matsuda T., Takenaka M., Monaci P., Nicosia A., and Tanaka T. Identification and characterization of hepatocyte-specific regulatory regions of the rat pyruvate kinase L gene. The synergistic effect of multiple elements. J. Biol. Chem. 265 (1990) 19885-19891
23. Ban N., Yamada Y., Someya Y., Miyawaki K., Ihara Y., Hosokawa M., Toyokuni S., Tsuda K., and Seino Y. Hepatocyte nuclear factor-1alpha recruits the transcriptional co-activator p300 on the GLUT2 gene promoter. Diabetes 51 (2002) 1409-1418
24. Shih D.Q., Screenan S., Munoz K.N., Philipson L., Pontoglio M., Yaniv M., Polonsky K.S., and Stoffel M. Loss of HNF-1alpha function in mice leads to abnormal expression of genes involved in pancreatic islet development and metabolism. Diabetes 50 (2001) 2472-2480
25. Nicosia A., Tafi R., and Monaci P. Trans-dominant inhibition of transcription activator LFB1. Nucleic Acids Res. 20 (1992) 5321-5328
26. Guillam M.T., Dupraz P., and Thorens B. Glucose uptake, utilization, and signaling in GLUT2-null islets. Diabetes 49 (2000) 1485-1491
27. Chankiewitz E., Peschke D., Herberg L., Bazwinsky I., Mühlbauer E., Brömme H., and Peschke E. Did the gradual loss of GLUT2 cause a shift to diabetic disorders in the New Zealand obese mouse (NZO/Hl)?. Exp. Clin. Endocrinol. Diabetes 114 (2006) 262-269
28. Laukkanen O., Lindström J., Eriksson J., Valle T., Hämäläinen H., Ilanne-Parikka P., Keinänen-Kiukaanniemi S., Tuomilehto J., Uusitupa M., Laakso M., and Study F.D.P. Polymorphisms in the SLC2A2 (GLUT2) gene are associated with the conversion from impaired glucose tolerance to type 2 diabetes: the Finnish Diabetes Prevention Study. Diabetes 54 (2005) 2256-2260
29. Reddy S., Young M., Poole C., and Ross J. Loss of glucose transporter-2 precedes insulin loss in the nonobese diabetic and the low-dose streptozotocin mouse models: a comparative immunohistochemical study by light and confocal microscopy. Gen. Comp. Endocrinol. 111 (1998) 9-19
30. Yamada K., and Noguchi T. Nutrient and hormonal regulation of pyruvate kinase gene expression. Biochem. J. 337 (1999) 1-11