Genotype/phenotype relationships in HNF-4α/MODY1: Haploinsufficiency is associated with reduced apolipoprotein(AII), apolipoprotein(CIII), lipoprotein(a), and triglyceride levels

Diabetes

Volumn 49, Issue 5, 2000, Pages 832-837

  Shih, David Q ^a   Dansky, Hayes M ^a   Fleisher, Martin ^b   Assmann, Gerd ^c   Fajans, Stefan S ^d   Stoffel, Markus ^a  

^a ROCKEFELLER UNIVERSITY   (United States)

^b MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^c UNIVERSITY OF MÜNSTER   (Germany)

^d UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN A2; APOLIPOPROTEIN C3; DNA; GLUCOSE; INSULIN; LIPOPROTEIN A; RNA; TRANSCRIPTION FACTOR; TRIACYLGLYCEROL;

ADULT; ARTICLE; CLINICAL ARTICLE; DIABETES MELLITUS; FEMALE; GENE EXPRESSION; GENE MUTATION; GENOTYPE; HUMAN; LIPID METABOLISM; LIPOPROTEIN METABOLISM; LIVER; MALE; PANCREAS ISLET BETA CELL; PHENOTYPE; PRIORITY JOURNAL;

EID: 0034035239     PISSN: 00121797     EISSN: None     Source Type: Journal    
DOI: 10.2337/diabetes.49.5.832     Document Type: Article

References (36)

1. Fajans SS: Maturity-onset diabetes of the young. 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 mutations 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 hepatocyte nuclear factor-4 alpha gene in maturity-onset diabetes of the young (MODY1). 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 hepatocyte nuclear factor 1 alpha gene in maturity-onset diabetes of the young (MODY3). 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 (TCF2) associated with MODY. Nat Genet 17:384-385, 1997
7. Sladek FM, Zhong W, Lai E, Darnell JE Jr: Liver-enriched transcription factor HNF4 is a novel member of the steroid hormone receptor superfamily. Genes Dev 4:2353-2365, 1990
8. Chen WS, Manova K, Weinstein DC, Duncan SA, Plump AS, Prezioso VR, Bachvarova RF, Darnell JE Jr: Disruption of the HNF4 gene, expressed in the visceral endoderm, leads to cell death in embryonic ectoderm and impaired gastrulation of mouse embryos. Genes Dev 8:2466-2477, 1994
9. Stoffel M, Duncan SA: The maturity-onset diabetes of the young (MODY1) transcription factor HNK-4α regulates expression of genes required for glucose transport and metabolism. Proc Natl Acad Sci U S A 94:13209-13214, 1997
10. Duncan SA, Navas MA, Dufort D, Rossant J, Stoffel M: HNF3α and HNF3β regulates a transcription factor network which is critical for cell differentiation and metabolism. Science 281:692-695, 1998
11. Kou 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
12. 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 a mutation in the MODY1 gene on chromosome 20. Diabetes 44:699-705, 1994
13. 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 responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on chromosome 12. Diabetes 46:1503-1511, 1996
14. Herman WH, Fajans SS, Oritz KJ, Smith MJ, Sturis J, Bell GI, Polonsky KS, Halter JB: Abnormal insulin secretion, not insulin resistance is the genetic or primary defect of MODY in the RW pedigree. Diabetes 43:40-46, 1994
15. Herman WH, Fajans SS, Smith MJ, Polonsky KS, Bell GI, Halter JB: Diminished insulin and glucagon secretory responses to arginine in nondiabetic subjects with a mutation in the hepatocyte nuclear factor-4alpha/MODY1 gene. Diabetes 46:1749-1754, 1997
16. Lehto M, Bitzen PO, Isomaa B, Wipemo C, Wessman Y, Forsblom C, Tuomi T, Taskinen MR, Groop L: Mutation in the HNF-4alpha gene affects insulin secretion and triglyceride metabolism. Diabetes 48:423-425, 1999
17. Expert Committee on the Diagnosis and Classification of Diabetes Mellitus: Report of the Expert Committee on the Diagnosis and Classification of Diabetes Mellitus. Diabetes Care 20 (Suppl. 1):S5-S19, 1999
18. Stoffel M, Froguel P, Takeda J, Zouali H, Nionnet N, Nishi S, Weber IT, Harrison RW, Pilkis SJ, Lesage S, Vaxillaire M, Velho G, Sun F, Iris F, Passa P, Cohen D, Bell GI: Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus. Proc Natl Acad Sci U S A 89:7698-7702, 1992
19. Robertson EJ (Ed.): Teratocarcinomas and Embryonic Stem Cells: A Practical Approach. Oxford, U.K., IRL, 1987, pp. 71-112
20. Lavery DJ, Lopez-Molina L, Fleury-Olela F, Schibler U: Selective amplification via biotin- and restriction-mediated enrichment (SABRE), a novel selective amplification procedure for detection of differentially expressed mRNAs. Proc Natl Acad Sci U S A 94:6831-6836, 1997
21. Miller RD, Riblet R: Improved phenol emulsion DNA reassociation technique (PERT) using thermal cycling. Nucleic Acids Res 23:2339-2340, 1995
22. Duncan SS, Nagy A, Chan W: Murine gastrulation requires HNF-4α regulated gene expression in the visceral endoderm: tetraploid rescue of Hnf-4(-/-) embryos. Development 124:279-287, 1997
23. Iwasaki N, Ogata M, Tomonaga O. Kuroki H, Kasahara T, Yano N, Iwamoto Y: Liver and kidney function in Japanese patients with maturity-onset diabetes of the young. Diabetes Care 21:2144-2148, 1998
24. Lindner T, Gragnoli C, Furuta H, Cockhura BN, Petzold C, Rietzsch H, Weiss U, Schulze J, Bell GI: Hepatic function in a family with a nonsense mutation (R154X) in the hepatocyte nuclear factor-4alpha/MODY1 gene. J Clin Invest 100:1400-1405, 1997
25. Navas MA, Munoz-Elias EJ, Kim J, Shih DQ, Stoffel M: Functional characterization of the MODY1 gene mutations HNF4(R127W), HNF4(V255M), and HNF4(E276Q). Diabetes 48:1459-1465, 1999
26. Utermann G, Duba C, Menzel HJ: Genetics of the quantitative Lp(a) lipoprotein trait. II. Inheritance of Lp(a) glycoprotein phenotypes. Hum Genet 78:47-50, 1988
27. Utermann G, Menzel HJ, Kraft HG, Duba HC, Kemmler HG, Seitz C: Lp(a) glycoprotein phenotypes: inheritance and relation to Lp(a)-lipoprotein concentrations in plasma. J Clin Invest 80:458-465, 1987
28. Bereket A, Lang CH, Wilson TA: Alterations in the growth hormone-insulin-like growth factor axis in insulin dependent diabetes mellitus. Horm Metab Res 31:172-181, 1999
29. Cardot P, Chambaz J, Cladaras C, Zannis VI: Regulation of the human apoAII gene by the synergistic action of factors finding to the proximal and distal regulatory elements. J Biol Chem 266:24460-24470, 1991
30. Griffo G, Hamon BC, Angrand PO, Fox M, West L, Lecoq W, Povey S, Cassio D. Weiss M: HNF4 and HNF1 as well as a panel of hepatic functions are extinguished and re-expressed in parallel in chromosomally reduced rat hepatomahuman fibroblast hybrids. J Cell Biol 121:887-898, 1993
31. Pontoglio M, Barra J, Hadchouel M, Doyen A, Kress C, Bach JP, Babionet C, Yaniv M: Hepatocyte nuclear factor 1 inactivation results in hepatic dysfunction, phenylketonuria, and renal Fanconi syndrome. Cell 84:575-585, 1996
32. Kraus RM, Herbert PN, Levy RI, Fredrickson DS: Further observations on the activation and inhibition of lipoprotein lipase by apolipoproteins. Circ Res 33:403-111, 1973
33. Aalto-Setala K, Weinstock PH, Bisgaier CL, Wu L, Smith JD, Breslow JL: Further characterization of the metabolic properties of triglyceride-rich lipoproteins from human and mouse apoC-III transgenic mice. J Lipid Res 37:1802-1811, 1990
34. Boisfer E, Lambert G, Atger V, Tran NQ, Pastier D, Benetollo C, Trottier JF, Beaucamps I, Antonucci M, Laplaud M, Griglio S, Chambaz J, Kalopissis AD: Overexpression of human apolipoprotein A-II in mice induces hypertriglyceridemia due to defective very low density lipoprotein hydrolysis. J Biol Chem 274:11564-11572, 1999
35. Weng W, Breslow JL: Dramatically decreased high density lipoprotein cholesterol, increased remnant clearance, and insulin hypersensitivity in apolipoprotein A-II knockout mice suggest a complex role for apolipoprotein A-II in atherosclerosis susceptibility. Proc Natl Acad Sci U S A 93:14788-14794, 1996
36. Deep SS, Takata K, Peng R, Kajiyama G, Albers JJ: A splice junction mutation responsible for familial apolipoprotein A2 deficiency. Am J Hum Genet 46:822-827, 1990