Abnormal splicing of hepatocyte nuclear factor-1 beta in the renal cysts and diabetes syndrome

Diabetologia

Volumn 47, Issue 5, 2004, Pages 937-942

  Harries, L W ^a   Ellard, S ^a,c   Jones, R W A ^b   Hattersley, A T ^a   Bingham, C ^a  

^a PENINSULA MEDICAL SCHOOL   (United Kingdom)

^b DERRIFORD HOSPITAL   (United Kingdom)

^c ROYAL DEVON AND EXETER HOSPITAL   (United Kingdom)

Author keywords

HNF 1 ; Illegitimate transcription; MODY5; RCAD; RT PCR; Splicing

Indexed keywords

MESSENGER RNA; NUCLEAR FACTOR I; PROTEIN SUBUNIT;

ARTICLE; CONTROLLED STUDY; DIABETES MELLITUS; EPSTEIN BARR VIRUS; EXON; GONAD; HUMAN; HUMAN CELL; INTRON; KIDNEY CYST; KIDNEY PARENCHYMA; LIVER; LUNG PARENCHYMA; LYMPHOBLASTOID CELL LINE; MUTATION; PANCREAS; PREDICTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SEQUENCE ANALYSIS;

ALTERNATIVE SPLICING; BASE SEQUENCE; DIABETES MELLITUS, TYPE 2; DNA PRIMERS; DNA-BINDING PROTEINS; FEMALE; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HUMANS; KIDNEY DISEASES, CYSTIC; MALE; PEDIGREE; RNA, MESSENGER; TRANSCRIPTION FACTORS; TRANSCRIPTION, GENETIC;

EID: 2942561056     PISSN: 0012186X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00125-004-1383-x     Document Type: Article

References (22)

1. Horikawa Y, Iwasaki N, Hara M et al. (1997) Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. Nat Genet 17:384-385
2. Nishigori H, Yamada S, Kohama T et al. (1998) Frameshift mutation, A263fsinsGG, in the hepatocyte nuclear factor-1 beta gene associated with diabetes and renal dysfunction. Diabetes 47:1354-1355
3. Bingham C, Bulman M, Ellard S et al. (2001) Mutations in the HNF-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease. Am J Hum Genet 68: 219-224
4. Bingham C, Ellard S, Cole TR et al. (2002) Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1 beta mutations. Kidney Int 61:1243-1251
5. Kolatsi-Joannou M, Bingham C, Ellard S et al. (2001) Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development. J Am Soc Nephrol 12:2175-2180
6. Bingham C, Ellard S, Allen L et al. (2000) Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta. Kidney Int 57:898-907
7. Lindner TH, Njolstad PR, Horikawa Y, Bostad L, Bell GI, Sovik O (1999) A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta. Hum Mol Genet 8:2001-2008
8. Mache CJ, Preisegger KH, Kopp S, Ratschek M, Ring E (2002) De novo HNF-1beta gene mutation in familial hypoplastic glomerulocystic kidney disease. Pediatr Nephrol 17:1021-1026
9. Iwasaki N, Okabe I, Momoi MY, Ohashi H, Ogata M, Iwamoto Y (2001) Splice site mutation in the hepatocyte nuclear factor-1 beta gene, IVS2nt + IG > A, associated with maturity-onset diabetes of the young, renal dysplasia and bicornuate uterus. Diabetologia 44:387-388
10. Montoli A, Colussi G, Massa O et al. (2002) Renal cysts and diabetes syndrome linked to mutations of the hepatocyte nuclear factor-1 beta gene: description of a new family with associated liver involvement. Am J Kidney Dis 40:397-402
11. Bingham C, Ellard S, Van't Hoff WG et al. (2003) Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation. Kidney Int 63:1645-1651
12. Owen K, Hattersley AT (2001) Maturity-onset diabetes of the young: from clinical description to molecular genetic characterization. Best Pract Res Clin Endocrinol Metab 15:309-323
13. Iwasaki N, Ogata M, Tomonaga O et al. (1998) Liver and kidney function in Japanese patients with maturity-onset diabetes of the young. Diabetes Care 21:2144-2148
14. Carbone I, Cotellessa M, Barella C et al. (2002) A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes. Diabetologia 45:153-154
15. Furuta H, Furuta M, Sanke T et al. (2002) Nonsense and missense mutations in the human hepatocyte nuclear factor-1 beta gene (TCF2) and their relation to type 2 diabetes in Japanese. J Clin Endocrinol Metab 87:3859-3863
16. Frischmeyer PA, Dietz HC (1999) Nonsense-mediated mRNA decay in health and disease. Hum Mol Genet 8:1893-1900
17. Byers PH (2002) Killing the messenger: new insights into nonsense-mediated mRNA decay. J Clin Invest 109:3-6
18. Bulman MP, Harries LW, Hansen T et al. (2002) Abnormal splicing of hepatocyte nuclear factor 1 alpha in maturity-onset diabetes of the young. Diabetologia 45:1463-1467
19. Sun F, Knebelmann B, Pueyo ME et al. (1993) Deletion of the donor splice site of intron 4 in the glucokinase gene causes maturity-onset diabetes of the young. J Clin Invest 92:1174-1180
20. Applied Biosystems (2001) Relative quantitation of gene expression. User bulletin no. 2:11-15
21. Bach I, Yaniv M (1993) More potent transcriptional activators or a transdominant inhibitor of the HNF1 homeoprotein family are generated by alternative RNA processing. EMBO J 12:4229-4242
22. Duan J, Wainwright MS, Comeron JM et al. (2003) Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor. Hum Mol Genet 12:205-216