Identification of new mutations in the hepatocyte nuclear factor 4α gene among families with early onset Type 2 diabetes mellitus

Diabetic Medicine

Volumn 16, Issue 3, 1999, Pages 193-200

  Malecki, M T ^a,b   Yang, Y ^a,b   Antonellis, A ^a   Curtis, S ^a   Warram, J H ^a   Krolewski, Andrzej S ^a,b  

^a JOSLIN DIABETES CENTER   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

Author keywords

Genetics; Hepatocyte nuclear factor 4 ; MODY

Indexed keywords

GLYCINE; ISOLEUCINE; NUCLEAR FACTOR; NUCLEAR FACTOR 4ALPHA; SERINE; UNCLASSIFIED DRUG; VALINE;

ADULT; AGED; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 20; CONTROLLED STUDY; DNA BINDING; EXON; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC SUSCEPTIBILITY; HUMAN; INSULIN RELEASE; MAJOR CLINICAL STUDY; MALE; NON INSULIN DEPENDENT DIABETES MELLITUS; PROMOTER REGION; SEQUENCE ANALYSIS;

ADOLESCENT; ADULT; AGE OF ONSET; BASIC HELIX-LOOP-HELIX LEUCINE ZIPPER TRANSCRIPTION FACTORS; DIABETES MELLITUS, TYPE 2; DNA-BINDING PROTEINS; FAMILY HEALTH; GENES, DOMINANT; HEPATOCYTE NUCLEAR FACTOR 4; HUMANS; MUTATION; PEDIGREE; PHOSPHOPROTEINS; RECEPTORS, CYTOPLASMIC AND NUCLEAR; TRANSCRIPTION FACTORS;

EID: 0032758592     PISSN: 07423071     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1464-5491.1999.00073.x     Document Type: Article

References (24)

1. 1 Hattersley AT. Maturity-onset diabetes of the young: clinical heterogeneity explained by genetic heterogeneity. Diabetic Med 1998; 15: 15-24.
2. 2 Yamagata K, Furuta H, Oda N, Kaisaki PJ, Menzel S, Cox NJ et al. Mutations in the hepatocyte nuclear factor-4α gene in the maturity-onset diabetes of the young (MODY1). Nature 1996; 384: 458-60.
3. 3 Froguel P, Zouali H, Vionnet N, Velho G, Vaxillaire M, Sun F et al. Familial hyperglycaemia due to mutations in glucokinase. N Engl J Med 1993; 328: 697-702.
4. 4 Yamagata K, Oda N, Kaisaki PJ, Menzel S, Furuta H, Vaxillaire M et al. Mutations in the hepatocyte nuclear factor-1 (gene in maturity-onset diabetes of the young (MODY3). Nature 1996; 384: 455-458.
5. 5 Stoffers DA, Ferrer J, Clarke WL, Habener JF. Early-onset type-II diabetes mellitus (MODY4) linked to IPF1. Nature Genet 1997; 17: 138-139.
6. 6 Horikawa Y, Iwasaki N, Hara M, Furuta H, Hinokio Y, Cockburn BN et al. Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. Nat Genet 1996; 17: 384-385.
7. 7 Bulman MP, Dronsfield MJ, Frayling T, Appleton M, Bain SC, Ellard S et al. A missense mutation in the hepatocyte nuclear factor 4 alpha gene in a UK pedigree with maturity-onset diabetes of the young. Diabetologia 1997; 40: 859-862.
8. 8 Mangelsdorf DJ, Evans RM. The RXR heterodimers and orphanreceptors. Cell 1995; 83: 841-850.
9. st edn. Austin: R.G. Landes Company, 1994: 207-231.
10. 10 Arbini AA, Pollak ES, Bayleran JK, High KA, Bauer KA. Severe factor VII deficiency due to a mutation disrupting a hepatocyte nuclear factor 4 binding site in the factor VII promoter. Blood 1997; 89: 176-182.
11. 11 Reijnen MJ, Peerlinck K, Maasdam D, Bertina RM, Reitsma PH. Hemophilia B Leyden: substitution of thymine for guanine at position -21 results in a disruption of a hepatocyte nuclear factor 4 binding site in the factor IX promoter. Blood 1993; 82: 151-158.
12. 12 Stoffel M, Duncan SA. The maturity-onset diabetes of the young (MODY1) transcription factor HNF4 alpha regulates expression of genes required for glucose transport and metabolism. Proc Natl Acad Sci USA 1997; 94: 13209-13214.
13. 13 Lindner T, Gragnoli C, Furuta H, Cockburn BN, Petzold C, Rietzsch H et al. Hepatic function in a family with a nonsense mutation (R154X) in the hepatocyte nuclear factor-4alpha/MODY1 gene. J Clin Invest 1997; 100: 1400-1405.
14. 14 Furuta H, Iwasaki N, Oda N, Hinokio Y, Horikawa Y, Yamagata K et al. Organization and partial sequence of the hepatocyte nuclear factor-4 alpha/MODY1 gene and identification of a missense mutation. R127W in a Japanese family with MODY. Diabetes 1997; 46: 1652-1657.
15. 15 Hani EH, Suaud L, Boutin P, Chevre JC, Durand E, Phillippi A et al. A missense mutation in hepatocyte nuclear factor-4 alpha, resulting in a reduced transactivation activity, in human late-onset non-insulin-dependent diabetes mellitus. J Clin Invest 1998; 101: 521-526.
16. 16 Herman WH, Fajans SS, Ortiz FJ, Smith MJ, Sturis J, Bell GI et al. Abnormal insulin secretion, not insulin resistance, is the genetic or primary defect of MODY in the RW pedigree. Diabetes 1994; 43: 40-46.
17. 17 Malecki MT, Antonellis A, Casey P, Ji L, Wantman M, Warram JH et al. Exclusion of the hepatocyte nuclear factor-4α as a candidate gene for late-onset NIDDM linked with chromosome 20q. Diabetes 1998; 43: 970-971.
18. 18 Bennett PH. Definition, diagnosis, and classification of diabetes mellitus and impaired glucose tolerance. In: Kahn CR, Weir GC, eds. Joslin's Diabetes Mellitus, 13th edn. Pennsylvania: Lea & Febiger, Malvern, 1994: 193-200.
19. 19 Peters AL, Davidson MB, Schriger DL, Hasselblad V. A clinical approach for the diagnosis of diabetes mellitus: an analysis using glycosylated hemoglobin levels. Meta-analysis Research Group on the diagnosis of diabetes using glycated hemoglobin levels. JAMA 1996; 276: 1246-1252.
20. 20 Yang Y, Antonellis A, Malecki M, Wantman M, Warram JH, Krolewski AS. Mutation screening of the HNF-1α gene in North American MODY families (Abstract). Am J Hum Genet 1997; 61: A352.
21. 21 Hadzopoulou-Cladaras M, Kistanova E, Evagelopoulou C, Zeng S, Cladaras C, Ladias JA. Functional domains of the nuclear receptor hepatocyte nuclear factor 4. J Biol Chem 1997; 272: 539-550.
22. 22 Drewes T, Senkel S, Holewa B, Ryffel GU. Human hepatocyte nuclear factor 4 isoforms are encoded by distinct and differentially expressed genes. Mol Cell Biol 1996; 16: 925-931.
23. 23 Stoffel M, Patel P, Lo YM, Hattersley AT, Lucassen AM, Page R et al. Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes. Nature Genet 1992; 2: 153-156.
24. 24 National Diabetes Data Group. Classification and diagnosis of diabetes mellitus and other categories of glucose intolerance. Diabetes 1979; 28: 1039-1057.