Hepatocyte nuclear factor 1α coding mutations are an uncommon contributor to early-onset type 2 diabetes in Ashkenazi Jews

Diabetes

Volumn 47, Issue 6, 1998, Pages 967-969

  Behn, Philip S ^a   Wasson, Jon ^a   Chayen, Susan ^b   Smolovitch, Irena ^b   Thomas, Jeffrey ^c   Glaser, Benjamin ^b   Alan Permutt, M ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^c MILLENNIUM PHARMACEUTICALS INC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEAR FACTOR I;

ARTICLE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; HUMAN; JEW; MISSENSE MUTATION; NON INSULIN DEPENDENT DIABETES MELLITUS; PRIORITY JOURNAL;

ADULT; AGE OF ONSET; AGED; AGED, 80 AND OVER; DIABETES MELLITUS, TYPE 2; DNA; DNA-BINDING PROTEINS; EUROPE, EASTERN; EXONS; HEPATOCYTE NUCLEAR FACTOR 1; HEPATOCYTE NUCLEAR FACTOR 1-ALPHA; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HUMANS; ISRAEL; JEWS; MIDDLE AGED; NUCLEAR PROTEINS; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; TRANSCRIPTION FACTORS; VARIATION (GENETICS);

EID: 0031859904     PISSN: 00121797     EISSN: None     Source Type: Journal    
DOI: 10.2337/diabetes.47.6.967     Document Type: Article

References (16)

1. Froguel Ph, Zouali H, Vionnet N, Velho G, Vaxillaire M, Sun F, Lesage S, Stoffel M, Takeda J, Passa P, Permutt MA, Beckmann JS, Bell GI, Cohen D: Familial hyperglycemia due to mutations in glucokinase: definition of a subtype of diabetes mellitus. New Engl J Med 328:697-702, 1993
2. Yamagata K, Oda N, Kaisaki PJ, Menzel S, Furuta H, Vaxillaire M, 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, Pederson O, Hansen T, Polonsky KS, Turner RC, Chevre JC, Froguel P, Bell GI: Mutations in the hepatocyte nuclear factor 1α gene in maturity-onset diabetes of the young (MODY3). Nature 384:455-458, 1996
3. Kaisaki PJ, Menzel S, Lindner T, Oda N, Rjasanowski I, Sahm J, Meincke G, Schulze J, Schmechel H, Petzold C, Ledermann HM, Sachse G, Boriraj VV, Menzel R, Kerner W, Turner RC, Yamagata K, Bell GI: Mutations in the hepatocyte nuclear factor 1α gene in MODY and early-onset NIDDM. Diabetes 46:528-535, 1997
4. Vaxillaire M, Rouard M, Yamagata K, Oda N, Kaisaki PJ, Boriraj VV, Chevre JC, Boccio V, Cox RD, Lathrop GM, Dussoix P, Philippe J, Timsit J, Charpentier G, Velho G, Bell GI, Froguel P: Identification of nine novel mutations in the hepatocyte nuclear factor 1 α gene associated with maturity-onset diabetes of the young (MODY3). Hum Mol Genet 6:583-586, 1997
5. Bulman MP, Dronsfield MJ, Frayling T, Appleton M, Bain SC, Ellard S, Hattersley AT A missense mutation in the hepatocyte nuclear factor 4 α gene in a U.K. pedigree with maturity-onset diabetes of the young. Diabetologia 40:859-862, 1997
6. Hansen T, Eiberg H, Rouard M, Vaxillaire M, Moller AM, Raamussen SK, Fridberg M, Urhammer S, Holst JJ, Almind K, Echwald SM, Hansen L, Bell GI, Pedersen O: Novel MODY3 mutations in the hepatocyte nuclear factor-1α gene: evidence for a hyperexcitability of pancreatic β-cells to intravenous secretagogues in a glucose-tolerant carrier of a P447L mutation. Diabetes 46:726-730, 1997
7. Glucksman M, Lento M, Tayber O, Scotti S, Berkelmeier L, Pulido JC, Wu Y, Nir WJ, Fang L, Markel P, Munelly KD, Goranson J, Orho M, Young BM, Whitacre JL, McMenimen C, Wantrnan M, Tuomi T, Warram J, Forsblom CM, Carlsson M, Rosenzweig J, Kennedy G, Duyk GM, Krolewski AS, Groop LC, Thomas JD: Novel mutations and a mutational hotspot in the MODY3 gene. Diabetes 46:1081-1086, 1997
8. Iwasald N, Oda N, Ogata M, Hara M, Hinokio Y, Oda Y, Yamagata K, Kanematzu S, Ohgawara H, Omori Y, Bell GI: Mutations in the hepatocyte nuclear factor-1-α/MODY3 gene in Japanese subjects with early- and late-onset NIDDM. Diabetes 46:1504-1508, 1998
9. Jorde L: Genetic diseases in the Ashkenazi population: evolutionary considerations. In Genetic Diversity Among Jews: Diseases and Markers at the DNA Level. Bonne-Tamir B, Adam A, Eds. New York, Oxford University Press, 1992, p. 305-318
10. Sherman JB, Raben N, Nicastri C, Argov Z, Nakajima H, Adams EM, Eng CM, Cowan TM, Plotz PH: Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII- and their population frequency. Am J Hum Genet 55:305-313, 1994
11. Nestorowicz A, Stanley CA, Landau H, Glaser B, Permutt MA: Familial hyperinsulinism in Ashkenazi Jews. In Advances in Jewish Genetic Diseases. Desnick RJ, Ed. Oxford, U.K., Oxford University Press, 1997.
12. Ankori Z: Origins and history of Ashkenazi Jewry (8th to 18th century). In Genetic Diseases Among Ashkenazi Jews. Goodman RM, Motulsky AG, Eds. New York, Raven, 1979, p. 19-46
13. Chadwick RB, Conrad MP, McGinnis MD, Johnston-Dow L, Kronick MN: Heterozygote and mutation detection by direct automated fluorescent DNA sequencing using a mutant taq DNA polymerase. Bio Techniques 20:676-683, 1996
14. Chouard T, Blumenfeld M, Bach I, Vandekerckhove J, Cereghini S, Yaniv M: A distal dimerization domain is essential for DNA-binding by the atypical HNF1 homeodomain. Nucl Acids Res 18:5853-5863, 1990
15. Urhammer S, Fridberg M, Hansen T, Rasmussen SK, Moller AM, Clausen JO, Pedersen O: A prevalent amino acid polymorphism at codon 98 in the hepatocyte nuclear factor-1α gene is associated with reduced serum C-peptide and insulin responses to an oral glucose challenge. Diabetes 46:912-916, 1997
16. Urhammer SA, Rasmussen SK, Aisaki PJ, Oda N, Yamagata K, Moller AM, Fridberg M, Hansen L, Bell GI, Pederson O: Genetic variations in the hepatocyte nuclear factor-1 gene in Danish Caucasians with late-onset NIDDM. Diabetologia 40:473-475, 1997