Brief report: PAX4 mutations in Thais with maturity onset diabetes of the young

Journal of Clinical Endocrinology and Metabolism

Volumn 92, Issue 7, 2007, Pages 2821-2826

  Plengvidhya, Nattachet ^a   Kooptiwut, Suwattanee ^a   Songtawee, Napat ^a   Doi, Asako ^b   Furuta, Hiroto ^b   Nishi, Masahiro ^b   Nanjo, Kishio ^b   Tantibhedhyangkul, Wiwit ^a   Boonyasrisawat, Watip ^a   Yenchitsomanus, Pa Thai ^a   Doria, Alessandro ^c   Banchuin, Napatawn ^a  

^a MAHIDOL UNIVERSITY   (Thailand)

^b WAKAYAMA MEDICAL UNIVERSITY   (Japan)

^c HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCAGON; INSULIN; TRANSCRIPTION FACTOR PAX4; HOMEODOMAIN PROTEIN; PAIRED BOX TRANSCRIPTION FACTOR; PAX4 PROTEIN, HUMAN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE; HUMAN; MALE; MATURITY ONSET DIABETES MELLITUS; PANCREAS ISLET BETA CELL; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE STRAND CONFORMATION POLYMORPHISM; THAILAND; ASIAN; ETHNOLOGY; GENETICS; MIDDLE AGED; NON INSULIN DEPENDENT DIABETES MELLITUS; ONSET AGE; PEDIGREE; POINT MUTATION;

THAIS;

ADULT; AGE OF ONSET; ASIAN CONTINENTAL ANCESTRY GROUP; DIABETES MELLITUS, TYPE 2; FEMALE; GENOTYPE; HOMEODOMAIN PROTEINS; HUMANS; MALE; MIDDLE AGED; PAIRED BOX TRANSCRIPTION FACTORS; PEDIGREE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; THAILAND;

EID: 34447132254     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2006-1927     Document Type: Article

References (18)

1. Fajans SS, Bell GI, Polonsky KS 2001 Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N Engl J Med 345:971-980
2. 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 PH, Permutt MA, Cohen D 1992 Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus. Nature 356:162-164
3. Yamagata K, Furuta H, Oda N, Kaisaki PJ, Menzel S, Cox NJ, Fajans SS, Signorini S, Stoffel M, Bell GI 1996 Mutations in the hepatocyte nuclear factor-4α gene in maturity-onset diabetes of the young (MODY1). Nature 384:458-460
4. Yamagata K, Oda N, Kaisaki PJ, Menzel S, 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, Turner RC, Velho G, Chèvre JC Froguel P, Bell GI 1996 Mutations in the hepatocyte nuclear factor-1α gene in maturity-onset diabetes of the young (MODY3). Nature 384:455-458
5. Stoffers DA, Ferrer J, Clarke WL, Habener JF 1997 Early-onset type-II diabetes mellitus (MODY4) linked to IPF1. Nat Genet 17:138-139
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 1997 Mutation in hepatocyte nuclear factor-1 β gene (TCF2) associated with MODY. Nat Genet 17:384-385
7. Malecki MT, Jhala US, Antonellis A, Fields L, Doria A, Orban T, Saad M, Warram JH, Montminy M, Krolewski AS 1999 Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus. Nat Genet 23:323-328
8. Chèvre JC, Hani EH, Boutin P, Vaxillaire M, Blanche H, Vionnet N, Pardini VC, Timsit J, Larger E, Charpentier G, Beckers D, Maes M, Bellanne-Chantelot C, Velho G, Froguel P 1998 Mutation screening in 18 Caucasian families suggest the existence of other MODY genes. Diabetologia 41:1017-1023
9. Ng MC, Cockburn BN, Lindner TH, Yeung VT, Chow CC, So WY, Li JK, Lo YM, Lee ZS, Cockram CS, Critchley JA, Bell GI, Chan JC 1999 Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte nuclear factor-1α genes in patients with early-onset type 2 diabetes mellitus/MODY. Diabet Med 16:956-963
10. Nishigori H, Yamada S, Kohama T, Utsugi T, Shimizu H, Takeuchi T, Takeda J 1998 Mutations in the hepatocyte nuclear factor-1 α gene (MODY3) are not a major cause of early-onset non-insulin-dependent (type 2) diabetes mellitus in Japanese. J Hum Genet 43:107-110
11. Plengvidhya N, Yenchitsomanas P, Boonyasrisawat W, Vannaseang S, Sriussadaporn S, Ploybutr S, Banchuin N 2003 Mutation screening of 6 MODY genes in early-onset autosomal dominant type 2 diabetes in Thai at Siriraj Hospital. A University Hospital experience. Diabetes 52:A514 (Abstract)
12. Smith SB, Ee HC, Conners JR, German MS 1999 Paired-homeodomain transcription factor PAX4 acts as a transcriptional repressor in early pancreatic development. Mol Cell Biol 19:8272-8280
13. Habener JF, Kemp DM, Thomas MK 2005 Minireview transcriptional regulation in pancreatic development. Endocrinology 146:1025-1034
14. Wang J, Elghazi L, Parker SE, Kizilocak H, Asano M, Sussel L, Sosa-Pineda B 2004 The concerted activities of Pax4 and Nkx2.2 are essential to initiate pancreatic β-cell differentiation. Dev Biol 266:178-189
15. Sosa-Pineda B, Chowdhury K, Torres M, Oliver G, Gruss P 1997 The Pax4 gene is essential for differentiation of insulin-producing β cells in the mammalian pancreas. Nature 386:399-402
16. Jonsson J, Carlsson L, Edlund T, Edlund H 1994 Insulin-promoter-factor 1 is required for pancreas development in mice. Nature 371:606-609
17. Biason-Lauber A, Boehm B, Lang-Muritano M, Gauthier BR, Brun T, Wollheim CB, Schoenle EJ 2005 Association of childhood type 1 diabetes mellitus with a variant of PAX4: possible link to β cell regenerative capacity. Diabetologia 48:900-905
18. Shimajiri Y, Sanke T, Furuta H, Hanabusa T, Nakagawa T, Fujitani Y, Kajimoto Y, Takasu N, Nanjo K 2001 A missense mutation of Pax4 gene (R121W) is associated with type 2 diabetes in Japanese. Diabetes 50:2864-2869