Novel mutations and a mutational hotspot in the MODY3 gene

Diabetes

Volumn 46, Issue 6, 1997, Pages 1081-1086

  Glucksmann, M Alexandra ^a   Lehto, Markku ^b   Tayber, Olga ^a   Scotti, Susan ^c   Berkemeier, Lucy ^a   Pulido, Jacqueline C ^a   Wu, Ye ^a   Nir, Waan Jeng ^a   Fang, Lei ^a   Markel, Paul ^a   Munnelly, Kevin D ^a   Goranson, Jill ^c   Orho, Marju ^b   Young, Brian M ^a   Whitacre, Jennifer L ^a   McMenimen, Cheryl ^c   Wantman, Michael ^c   Tuomi, Tiinamajia ^b   Warram, James ^c   Forsblom, Carol M ^d   Carlsson, Martin ^b   Rosenzweig, James ^c   Kennedy, Giulia ^a,e   Duyk, Geoffrey M ^a   Krolewski, Andrzej S ^a,c   Groop, Leif C ^a,b   Thomas, Jeffrey D ^a   more..

^a MILLENNIUM PHARMACEUTICALS INC   (United States)

^b LUND UNIVERSITY   (Sweden)

^c HARVARD MEDICAL SCHOOL   (United States)

^d HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^e NOVARTIS PHARMA AG   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEAR FACTOR I;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 12Q; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FEMALE; GENE INSERTION; GENE ISOLATION; GENE LOCATION; HUMAN; MALE; NON INSULIN DEPENDENT DIABETES MELLITUS; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 0031007206     PISSN: 00121797     EISSN: None     Source Type: Journal    
DOI: 10.2337/diab.46.6.1081     Document Type: Article

References (30)

1. Tattersall RB: Mild familial diabetes with dominant inheritance. Q J Med New Series XLIII:339-357, 1974
2. Bell GI, Xiang K, Newman MV, Wu S, 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 Natl Acad Sci USA 88:1484-1488, 1991
3. 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 a gene in maturity-onset diabetes of the young (MODY 1). Nature 384:458-460, 1996
4. Froguel P, Vaxillaire M, Sun F, Velho G, Zouali H, Butel MO, Lesage S, Vionnet N, Clement K, Fougerousse F, Tanizawa Y, Weissenbach J, Beckmann 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 (Erratum, 357:607, 1992)
5. Froguel P, Vaxillaire M, Sun F, Velho G, Zouali H, Butel MO, Lesage S, Vionnet N, Clement K, Fougerousse F, Tanizawa Y, Weissenbach J, Beckmann 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 (Erratum, 357:607, 1992)
6. Stoffel M, Froguel P, Takeda J, Zouali H, Vionnet 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 USA 89:7698-7702, 1992
7. Vaxillaire M, Boccio V, Philippi A, Vigouroux C, Terwilliger J, Passa P, Beckman 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
8. Yamagata K, Oda N, Kaisaki PJ, Menzel S, Furuta H, Vaxillarie M, Southman L, Cox RD, Lathrop M, 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, Turner RC, Velho G, Chevre JC, Froguel P, Bell GI: Mutations in the hepatocyte nuclear factor-1 a gene in maturity-onset diabetes of the young (MODY 3). Nature 384:455-458, 1996
9. Froguel P, 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. N Engl J Med 328:697-702, 1993
10. Zhang Y, Warren-Perry M, Saker PJ, Hattersley AT, Mackie AD, Baird JD, Greenwood RH, Stoffel M, Bell GI, Turner RC: Candidate gene studies in pedigree with maturity-onset diabetes of the young not linked with glucokinase. Diabetologia 38:1055-1060, 1995
11. Iwasaki N, Ogawara H, Nagahara H, Kawamura M, Bell GI, Omori Y: Characterization of Japanese families with early-onset type 2 (non-insulin dependent) diabetes mellitus and screening for mutations in the glucokinase and mitochondrial tRNA (Leu (UUR)) genes. Acta Diabetol 32:17-22, 1995
12. Herman WH, Fajans SS, Ortiz FJ, Smith MJ, Sturis J, Bell GI, Polonski 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 (Erratum, 43:1171, 1994)
13. Herman WH, Fajans SS, Ortiz FJ, Smith MJ, Sturis J, Bell GI, Polonski 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 (Erratum, 43:1171, 1994)
14. Byrne MM, Sturis J, Menzel K, Yamagata SS, Dronsfield MJ, Bain SC, Hattersley AT, Velho G, Froguel P, Bell GI, Polonsky KS: Altered insulin secretory response in diabetic and nondiabetic subjects with mutation in the diabetes susceptibility gene MODY 3 on chromosome 12. Diabetes 45:1503-1510, 1996
15. Lehto M, Tuomi T, Mahtani M, Widén E, Forsblom C, Sarelin L, Gullström M, Isomaa B, Lehtovirta M, Hyrkkö A, Kanninen T, Orho M, Manley S, Turner R, Brettin T, Kirby A, Thomas J, Duyk G, Lander E, Taskinen M-R, Groop L: Characterization of the MODY3 diabetes. J Clin Inves 99:1-7, 1997
16. Kruglyak L, Daly MJ, Reeve-Daly MO, Lander ES: Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 58:1347-1363, 1996
17. Chen C, Pulido JC, Duyk GM: MATS: a rapid and efficient method for the development of microsatellite markers from YACs. Genomics 25:1-8, 1995
18. Menzel S, Yamagata K, Trabb JB, Nerup J, Permutt A, Fajans SS, Menzel R, Iwasaki N, Omori Y, Cox NJ, Bell GI: Localization of MODY 3 to a 5 cM region of human chromosome 12. Diabetes 45:1408-1413, 1996
19. Weber JL, Wong C: Mutation of human short tandem repeats. Hum Mol Genet 2:1123-1128, 1993
20. Mahtani MM, Widén 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-Oaly MP, Weaver A, Brettin T, Duyk G, Lander ES, Groop IX: Mapping of a gene for type II diabetes associated with an insulin secretion defect by a genome scan in Finnish families. Nature Genet 14:90-04, 1996
21. Baumhueter S, Mendel DB, Conley PB, Kuo CJ, Turk C, Graves MK, Edwards CA, Courtois G, Crabtree GR: HNF1 shares three sequence motifs with the POU domain proteins and is identical to LF-B1 and APF. Genes Dec 4:372-379, 1990
22. Naoki M, Tanaka K: Analysis of the rat hepatocyte factor (HNF) 1 gene promoter synergistic activation by HNF4 and HNF1 proteins. Nucleic Acids Res 21:3731-3736, 1993
23. Rey-Campos J, Chouard T, Yaniv M, Cereghini S: vHNF1 is a homeoprotein that activates transcription and forms heterodimers with HNF1. EMBO J 10:1445-1407, 1991
24. Bach I, Yaniv M: More potent transcriptional activators or a transdominant inhibitor of the HNF1 homeoprotein family are generated by alternative RNA processing. EMBO J 12:4229-4242, 1993
25. Pontoglio M, Barra J, Hadchouel M, Doyen A, Kress C, Bach JP, Babinet C, Yaniv M: Hepatocyte nuclear factor 1 inactivation results in hepatic dysfunction, phenylketonuria, and renal Fanconi Syndrome. Cell 84:575-585, 1996
26. Emens LA, Landers DW, Moss LG: Hepatocyte nuclear factor la is expressed in a hamster insulinoma line and transactivates the rate insulin I gene. Proc Natl Acad Sci USA 89:7300-7304, 1992
27. Magnuson MA, Andreone TL, Printz RL, Koch S, Granner DK: Rat glucokinase, structure and regulation. Proc Natl Acad Sci USA 86:4838-4852, 1989
28. Vaulont S, Puzenat M, Kahn A, Raymondjean M: Analysis by cell-free transcription of the liver-specific pyruvate kinase gene promoter Mol Cell Biol 9:4409-4415, 1989
29. Yanuka-Kashles O, Cohen H, Cihail T, Aran A, Benvenisty N, Reshef L: Transcriptional regulation of the phosphoenolpyruvate carboxykinase gene by cooperation between hepatic nuclear factors. Mol Cell Biol 14:7124-7133, 1994
30. Vaulont S, Kahn A: Transcriptional control of metabolic regulation genes by carbohydrates. FASEB J 8:28-35, 1994