Mutations in the hepatocyte nuclear factor-1α gene are a common cause of maturity-onset diabetes of the young in the U.K.

Diabetes

Volumn 46, Issue 4, 1997, Pages 720-725

  Frayling, Timothy M ^a   Bulman, Michael P ^a   Ellard, Sian ^a   Appleton, Maggie ^a   Dronsfield, Mark J ^b   Mackie, Alasdair D R ^c   Baird, Joyce D ^c   Kaisaki, Pamela J ^d   Yamagata, Kazuya ^d   Bell, Graeme I ^d   Bain, Stephen C ^b   Hattersley, Andrew T ^a,e  

^a UNIVERSITY OF EXETER   (United Kingdom)

^b UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^c UNIVERSITY OF EDINBURGH   (United Kingdom)

^d UNIVERSITY OF CHICAGO   (United States)

^e PLYMOUTH UNIVERSITY PENINSULA SCHOOLS OF MEDICINE AND DENTISTRY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEAR FACTOR I;

ADOLESCENT; ADULT; ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; FAMILIAL DISEASE; FEMALE; FRAMESHIFT MUTATION; GENETIC COUNSELING; GENETIC SCREENING; HAPLOTYPE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MATURITY ONSET DIABETES MELLITUS; MISSENSE MUTATION; ONSET AGE; PEDIGREE; PRIORITY JOURNAL; UNITED KINGDOM;

EID: 14444278300     PISSN: 00121797     EISSN: None     Source Type: Journal    
DOI: 10.2337/diab.46.4.720     Document Type: Article

References (22)

1. Tattersall RB: Mild familial diabetes with dominant inheritance. Q J Med 43:339-357, 1974
2. Fajans SS: Scope and heterogeneous nature of MODY. Diabetes Care 13:49-64, 1990
3. Hattersley AT: Maturity-onset diabetes of the young. Balliere's Clin Paediatr 4:663-680, 1996
4. Appleton M, Hattersley AT: Maturity onset diabetes of the young: a missed diagnosis. Diabetic Med (Suppl. 2):AP3, 1996
5. Bell GI, Xiang KS, Newman MV, Wu SH, Wright LG, Fajans SS, Spielman RS, Cox NJ: Gene for non-insulin-dependent diabetes mellitus (maturity-onset diabetes of the young subtype) is linked to DNA polymorphism on human chromosome 20q. Proc Nat Acad Sci USA 88:1484-1488, 1991
6. Froguel P, Vaxillaire M, Sun F, Velho G, Zouali H, Butel MO, Lesage S, Vionnet N, Clement K, Fougerousse F, Tanizawa Y, Weissenbach, Beckman JS, Lathrop GM, Passa P, Permutt MA, Cohen D: Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus. Nature 356:162-164, 1992
7. Hattersley AT, Turner RC, Permutt MA, Patel P, Tanizawa Y, Chiu KC, O'Rahilly S, Watkins PJ, Wainscoat JS: Linkage of type 2 diabetes to the glucokinase gene. Lancet 339:1307-1310, 1992
8. Vaxillaire M, Boccio V, Philippi A, Vigouroux C, Terwilliger J, Passa P, Beckmann JS, Velho G, Lathrop GM, Froguel P: A gene for maturity onset diabetes of the young (MODY) maps to chromosome 12q. Nature Genet 9:418-423, 1995
9. 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 (MODY1). Nature 384:458-460, 1996
10. Yamagata K, Oda N, Kaisaki PJ, Menzel S, Furuta H, Vaxillaire M, Southam L, Cox RD, Lathrop GM, Boriraj W, Chen X, Cox NJ, Oda Y, Yano H, Le Beau MM, Yamada S, Nishigori H, Takeda J, Fajans SS, Hattersley AT, Iwasaki N, Pedersen O, Polonsky KS, Turner RC, Velho G, Chevre J-C, Froguel P, Bell GI: Mutations in the hepatic nuclear factor 1 alpha gene in maturity-onset diabetes of the young (MODY3). Nature 384:455-458, 1996
11. Miquerol L, Lopez S, Cartier N, Tulliez M, Raymondjean M, Kahn A: Expression of the L-type pyruvate kinase gene and the hepatocyte nuclear factor 4 transcription factor in exocrine and endocrine pancreas. J Biol Chem 269:8944-8951, 1994
12. Froguel P, Zouali H, Vionnet N, Velho G, Vaxillaire M, Sun F, Kesage S, Stoffel M, Takeda J, Passa P, Permutt A, Beckman JS, Bell GI, Cohen D: Familial hyperglycemia due to mutations in glucokinase: definition of a subtype of diabetes mellitus. N Engl J Med 328:697-702, 1993
13. Zhang Y, Warren-Perry MG, Saker PJ, Hattersley AT, Mackie ADR, Baird JD, Greenwood RH, Stoffel M, Bell GI, Turner RC: Candidate genes study in pedigrees with maturity-onset diabetes of the young not linked with glucokinase. Diabetologia 38:1055-1060, 1995
14. Dow E, Gelding SV, Skinner E, Hewitt JE, Gray IP, Mather H, Williamson R, Johnston DG: Genetic analysis of glucokinase and the chromosome 20 diabetes susceptibility locus in families with type 2 diabetes. Diabetic Med 11:856-861, 1994
15. Katagiri H, Asano T, Ishihara H, Inukai K, Anai M, Miyazaki J, Tsukuda K, Kikuchi M, Yazaki Y, Oka Y: Nonsense mutation of glucokinase gene in late-onset non-insulin-dependent diabetes mellitus. Lancet 340:1316-1317, 1992
16. Dronsfield MJ, Tack CJJ, Bain SC, Hattersley AT: Linkage of the gene for maturity-onset diabetes of the young (MODY) with markers on the long arm of chromosome 12. Diabetologia 38:229, 1995
17. Saker PJ, Hattersley AT, Barrow B, Hammersley MS, McLellan J-A, Lo Y-MD, Olds RJ, Gillmer MD, Holman R, Turner RC: Prevalance of a missense mutation of the glucokinase gene in gestational diabetic patients due to founder-effect in a local population. Diabetologia 39:1325-1328, 1996
18. Sourdive DJD, Chouard T, Yaniv M: The HNF1 C-terminal domain contributes to transcriptional activity and modulates nuclear localisation. C R Acad Sci 316:385-394, 1993
19. Youssoufian H: Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots. Nature 324:380-382, 1986
20. Lesage S, Hani EH, Philippj A, Vaxillaire M, Hager J, Passa P, Demenais F, Froguel P, Vionnet N: Linkage analysis of the MODY3 locus on chromosome 12q with late-onset NIDDM. Diabetes 44:1243-1247, 1995
21. Hanis CL, Boerwinkle E, Chakraborty R, Ellsworth DL, Concannon P, Stirling B, Morrison VA, Wapelhorst B, Spielman RS, Gogolin-Ewens KJ, Shephard JM, Williams SR, Risch N, Hinds D, Iwasaki N, Ogata M, Omori Y, Petzold C, Rietzsch H, Schroer H-E, Schulze J, Cox NJ, Menzel S, Boiraj VV, Chen X, Lim LR, Lindner T, Mereu LE, Wang Y-Q, Xiang K, Yamagata K, Yang Y, Bell GI: A genome-wide search for human non-insulin-dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2. Nature Genet 13:161-166, 1996
22. Mahtani MM, Widen E, Lehto M, Thomas J, McCarthy M, Brayer J, Bryant B, Chan G, Daly M, Forsblom C, Kanninen T, Kirby A, Kruglyak L, Munnelly K, Parkkonen M, Reeve-Daly MP, Weaver A, Brettin T, Duyk G, Lander ES, Groop LC: Mapping of a gene for type 2 diabetes associated with an insulin secretion defect by a genome scan in Finnish families. Nature Genet 14:90-94, 1996