Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1β

Kidney International

Volumn 57, Issue 3, 2000, Pages 898-907

  Bingham, Coralie ^a,b,c,d,e,f   Ellard, Sian ^a,b,c,d,e,f   Allen, Lisa ^a,b,c,d,e,f   Bulman, Michael ^a,b,c,d,e,f   Shepherd, Maggie ^a,b,c,d,e,f   Frayling, Tim ^a,b,c,d,e,f   Berry, Peter J ^a,b,c,d,e,f   Clark, Penny M ^a,b,c,d,e,f   Lindner, Tom ^a,b,c,d,e,f   Bell, Graeme I ^a,b,c,d,e,f   Ryffel, Gerhart U ^a,b,c,d,e,f   Nicholls, Anthony J ^a,b,c,d,e,f   Hattersley, Andrew T ^a,b,c,d,e,f  

^a UNIVERSITY OF EXETER   (United Kingdom)

^b UNIVERSITY HOSPITAL ESSEN   (Germany)

^c BRISTOL ROYAL HOSPITAL FOR CHILDREN   (United Kingdom)

^d UNIVERSITY HOSPITALS BIRMINGHAM NHS FOUNDATION TRUST   (United Kingdom)

^e HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^f UNIVERSITY OF CHICAGO   (United States)

Author keywords

Cystic kidney; Diabetes mellitus; Embryology; Genetics; Nephrogenesis; Transcription factors

Indexed keywords

NUCLEAR FACTOR I;

ADULT; CELL FUNCTION; CLINICAL ARTICLE; CONFERENCE PAPER; CREATININE CLEARANCE; EXON; FRAMESHIFT MUTATION; GLUCOSE TOLERANCE; HUMAN; KIDNEY DEVELOPMENT; KIDNEY DISEASE; MATURITY ONSET DIABETES MELLITUS; NEPHRON; PANCREAS ISLET BETA CELL; PRIORITY JOURNAL;

EID: 0041677535     PISSN: 00852538     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1755.2000.057003898.x     Document Type: Article

References (26)

1. 1. HATTERSLEY AT: Maturity-onset diabetes of the young: Clinical heterogeneity explained by genetic heterogeneity. Diabet Med 15:15-24, 1998
2. 2. TATTERSALL RB: Mild familial diabetes with dominant inheritance. Q J Med 43:339-357, 1974
3. 3. FROGUFL 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
4. 4. 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
5. 5. 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, 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
6. 6. 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
7. 7. STOFFERS DA, FERRER J, CLARKE WL, HABENER JF: Early-onset type-II diabetes mellitus (MODY4) linked to IPF1. Nat Genet 17:138-139, 1997
8. 8. 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: Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. Nat Genet 17:384-385, 1997
9. 9. NISHIGORI H, YAMADA S, KOHAMA T, TOMURA H, SHO K, HORIKAWA Y, BELL GI, TAKEUCHI T, TAKEDA J: Frameshift mutation, A263-fsinsGG, in the hepatocyte nuclear factor-1 beta gene associated with diabetes and renal dysfunction. Diabetes 47:1354-1355, 1998
10. 10. MENDEL DB, HANSEN LP, GRAVES MK, CONLEY PB, CRABTREE GR: HNF-1 alpha and HNF-1 beta (vHNF-1) share dimerisation and homeo domains, but not activation domains, and form heterodimers in vitro. Genes Dev 5:1042-1056, 1991
11. 11. REY-CAMPOS J, CHOUARD T, YANIV M, CEREGHINI S: vHNF1 is a homeoprotein that activates transcription and forms heterodimers with HNF1. EMBO J 10:1445-1457, 1991
12. 12. LAZZARO D, DE SIMONE V, DE MAGISTRIS L, LEHTONEN E, CORTESE R: LFB1 and LFB3 homeoproteins are sequentially expressed during kidney development. Development 114:469-479, 1992
13. 13. BYRNE MM, STURIS J, MENZFL S, YAMAGATA K, FAJANS SS, DRONSFIELD MJ, BAIN SC, HATTERSLEY AT, VELHO G, FROGUEL P, BELL GI, POLONSKY KS: Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on chromosome 12. Diabetes 45:1503-1510, 1996
14. 14. LEHTO M, TUOMI T, MAHTANI MM, WIDEN E, FORSBLOM C, SARELIN L, GULLSTROM M, ISOMAA B, LEHTOVIRTA M, HYRKKO A, KANNINEN T, ORHO M, MANLEY S, TURNER RC, BRETTIN T, KIRBY A, THOMAS J, DUYK G, LANDER E, TASKINEN M-R, GROOP L: Characterization of the MODY3 phenotype: Early-onset diabetes caused by an insulin secretion defect. J Clin Invest 99:582-591, 1997
15. 15. MENZEL R, KAISAKI PJ, RJASANOWSKI I, HEINKE P, KERNER W, MENZEL S: A low renal threshold for glucose in diabetic patients with a mutation in the hepatocyte nuclear factor-1 alpha (HNF-1 alpha) gene. Diabet Med 15:816-820, 1998
16. 16. PONTOGLIO M, BARRA J, HADCHOUEL M, DOYEN A, KRESS C, POGGI BACH J, BABINET C, YANIV M: Hepatocyte nuclear factor 1 inactivation results in hepatic dysfunction, phenylketonuria, and renal fanconi syndrome. Cell 84:575-585, 1996
17. 17. VELHO G, CHARPENTIER G, VAXILLAIRE M, FROGUEL P, BOCCIO V: Diabetes complications in NIDDM kindreds linked to the MODY3 locus on chromosome 12q. Diabetes Care 19:915-919, 1996
18. 18. ISOMAA B, HENRICSSON M, LEHTO M, FORSBLOM C, KARANKO S, SARELIN L, HÄGGBLOM M, GROOP L: Chronic diabetic complications in patients with MODY3 diabetes. Diabetologia 41:467-473, 1998
19. 19. KOSAKA K, KUZUYA T, HAGURA R, YOSHINAGA H: Insulin response to oral glucose load is consistently decreased in established non-insulin-dependent diabetes mellitus: The usefulness of decreased early insulin response as a predictor of non-insulin-dependent diabetes mellitus. Diabet Med 13(Suppl 6):S109-S119, 1996
20. 20. CLAYTON BE, JENKINS P, ROUND JM: Paediatric Chemical Pathology. Oxford, Blackwell Scientific Publications, 1980, pp 60-63
21. 21. KAPLAN BS, KAPLAN P, KOTLUS ROSENBERG H, LAMOTHE E, ROSENBLATT DS: Polycystic kidney diseases in childhood. J Pediatr 115:867-880, 1989
22. 22. BERNSTEIN J, KISSANE JM: Hereditary disorders of the kidney, in Perspectives in Paediatric Pathology, edited by ROSENBERG H, BOLANDE RP, Chicago, Year Book Medical Publishers, 1973, p 435
23. 23. BERNSTEIN J, BROUGH AJ, MCADAMS AJ: The renal lesion in syndromes of multiple congenital malformations. Birth Defects 10:35-43, 1974
24. 24. BEARDS F, FRAYLING T, BULMAN M, HORIKAWA Y, ALLEN L, APPLETON M, BELL GI, ELLARD S, HATTERSLEY AT: Mutations in hepatocyte nuclear factor 1β are not a common cause of maturity-onset diabetes of the young in the U.K. Diabetes 47:1152-1154, 1998
25. 25. HATTERSLEY AT: Maturity-onset diabetes of the young. Baillieres Clin Paediatr 4:663-680, 1996
26. 26. SANYANUSIN P, MCNOE LA, SULLIVAN MJ, WEAVER RG, ECCLES MR: Mutation of PAX2 in two siblings with renal-coloboma syndrome. Hum Mol Genet 4:2183-2184, 1995