Transcription factor HNF1β and novel partners affect nephrogenesis

Kidney International

Volumn 74, Issue 2, 2008, Pages 210-217

  Dudziak, Karin ^a   Mottalebi, Nima ^a   Senkel, Sabine ^a   Edghill, Emma L ^b   Rosengarten, Stefan ^a   Roose, Magdalena ^a   Bingham, Coralie ^b   Ellard, Sian ^b   Ryffel, Gerhart U ^a  

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

^b PENINSULA MEDICAL SCHOOL   (United Kingdom)

Author keywords

Genetic renal disease; HNF1 ; Kidney development; Transcription factor

Indexed keywords

HEPATOCYTE NUCLEAR FACTOR 1BETA; TRANSCRIPTION FACTOR; BUTYRATE RESPONSE FACTOR 1; E4F1 PROTEIN, HUMAN; REPRESSOR PROTEIN; TCF2 PROTEIN, HUMAN; ZFP36L1 PROTEIN, HUMAN;

ANIMAL TISSUE; ARTICLE; CELLULAR DISTRIBUTION; CONTROLLED STUDY; EMBRYO; GENE MUTATION; GENETIC ANALYSIS; HUMAN; IN SITU HYBRIDIZATION; KIDNEY DEVELOPMENT; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN PROTEIN INTERACTION; TRANSACTIVATION; XENOPUS; ANIMAL; ANIMAL EMBRYO; CONGENITAL MALFORMATION; GENE EXPRESSION REGULATION; GENETICS; KIDNEY; METABOLISM; ORGANOGENESIS; PRENATAL DEVELOPMENT; TWO HYBRID SYSTEM;

ANIMALS; BUTYRATE RESPONSE FACTOR 1; DNA MUTATIONAL ANALYSIS; EMBRYO, NONMAMMALIAN; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HUMANS; KIDNEY; ORGANOGENESIS; REPRESSOR PROTEINS; TRANS-ACTIVATION (GENETICS); TWO-HYBRID SYSTEM TECHNIQUES; XENOPUS;

EID: 46249122875     PISSN: 00852538     EISSN: 15231755     Source Type: Journal    
DOI: 10.1038/ki.2008.149     Document Type: Article

References (47)

1. Edghill EL, Bingham C, Ellard S et al. Mutations in hepatocyte nuclear factor-1beta and their related phenotypes. J Med Genet 2006; 43: 84-90.
2. Bellanne-Chantelot C, Clauin S, Chauveau D et al. Large genomic rearrangements in the hepatocyte nuclear factor-1{beta} (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5. Diabetes 2005; 54: 3126-3132.
3. Eller P, Kaser S, Lhotta K et al. Renal cysts and diabetes due to a heterozygous HNF-1{beta} gene deletion. Nephrol Dial Transplant 2007; 22: 1271-1272.
4. Edghill EL, Oram RA, Owens M et al. Hepatocyte nuclear factor-1{beta} gene deletions a common cause of renal disease. Nephrol Dial Transplant 2008; 23: 627-635.
5. Ryffel GU. Mutations in the human genes encoding the transcription factors of the hepatocyte nuclear factor (HNF)1 and HNF4 families: functional and pathological consequences. J Mol Endocrinol 2001; 27: 11-29.
6. Igarashi P, Shao X, McNally BT et al. Roles of HNF-1beta in kidney development and congenital cystic diseases. Kidney Int 2005; 68: 1944-1947.
7. Barbacci E, Reber M, Ott M et al. Variant hepatocyte nuclear factor 1 is required for visceral endoderm specification. Development 1999; 126: 4795-4805.
8. Coffinier C, Thépot D, Babinet C et al. Essential role for the homeoprotein vHNF1/HNF1β in visceral endoderm differentiation. Development 1999; 126: 4785-4794.
9. Haumaître C, Barbacci E, Jenny M et al. Lack of TCF2/vHNF1 in mice leads to pancreas agenesis. Proc Natl Acad Sci USA 2005; 102: 1490-1495.
10. Coffinier C, Gresh L, Fiette L et al. Bile system morphogenesis defects and liver dysfunction upon targeted deletion of HNF1beta. Development 2002; 129: 1829-1838.
11. Wang L, Coffinier C, Thomas MK et al. Selective deletion of the Hnf1beta (MODY5) gene in beta-cells leads to altered gene expression and defective insulin release. Endocrinology 2004; 145: 3941-3949.
12. Gresh L, Fischer E, Reimann A et al. A transcriptional network in polycystic kidney disease. EMBO J 2004; 23: 1657-1668.
13. Hiesberger T, Bai Y, Shao X et al. Mutation of hepatocyte nuclear factor-1beta inhibits Pkhd1 gene expression and produces renal cysts in mice. J Clin Invest 2004; 113: 814-825.
14. Fischer E, Legue E, Doyen A et al. Defective planar cell polarity in polycystic kidney disease. Nat Genet 2006; 38: 21-23.
15. Sun Z, Hopkins N. vhnf1, the MODY5 and familial GCKD-associated gene, regulates regional specification of the zebrafish gut, pronephros, and hindbrain. Genes Dev 2001; 15: 3217-3229.
16. Wild W, Pogge von Strandmann E, Nastos A et al. The mutated human gene encoding hepatocyte nuclear factor 1beta inhibits kidney formation in developing Xenopus embryos. Proc Natl Acad Sci USA 2000; 97: 4695-4700.
17. Bohn S, Thomas H, Turan G et al. Distinct molecular and morphogenetic properties of mutations in the human HNF1beta gene that lead to defective kidney development. J Am Soc Nephrol 2003; 14: 2033-2041.
18. Ryffel GU. What can a frog tell us about human kidney development. Nephron Exp Nephrol 2003; 94: e35-e43.
19. Jones EA. Xenopus: a prince among models for pronephric kidney development. J Am Soc Nephrol 2005; 16: 313-321.
20. Chan T, Asashima M. Growing kidney in the frog. Nephron Exp Nephrol 2006; 103: e81-e85.
21. Woolf AS. Renal hypoplasia and dysplasia: starting to put the puzzle together. J Am Soc Nephrol 2006; 17: 2647-2649.
22. Weber S, Moriniere V, Knuppel T et al. Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. J Am Soc Nephrol 2006; 17: 2864-2870.
23. Ulinski T, Lescure S, Beaufils S et al. Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort. J Am Soc Nephrol 2006; 17: 497-503.
24. Wu G, Bohn S, Ryffel GU. The HNF1beta transcription factor has several domains involved in nephrogenesis and partially rescues Pax8/lim1-induced kidney malformations. Eur J Biochem 2004; 271: 3715-3728.
25. Mendel DB, Khavari PA, Conley PB et al. Characterization of a cofactor that regulates dimerization of a mammalian homeodomain protein. Science 1991; 254: 1762-1767.
26. Pogge von Strandmann E, Senkel S, Ryffel GU. Ectopic pigmentation in Xenopus in response to DCoH/PCD, the cofactor of HNF1 transcription factor/pterin-4alpha-carbinolamine dehydratase. Mech Dev 2000; 91: 53-60.
27. Bayle JH, Randazzo F, Johnen G et al. Hyperphenylalaninemia and impaired glucose tolerance in mice lacking the bifunctional DCoH gene. J Biol Chem 2002; 277: 28884-28891.
28. Nieuwkoop PD, Faber J. Normal Table of Xenopus laevis (Daudin). Elsevier/North-Holland Publishing Co.: Amsterdam, The Netherlands, 1975.
29. Vize PD, Jones EA, Pfister R. Development of the Xenopus pronephric system. Dev Biol 1995; 171: 531-540.
30. Demartis A, Maffei M, Vignali R et al. Cloning and developmental expression of LFB3/HNF1 beta transcription factor in Xenopus laevis. Mech Dev 1994; 47: 19-28.
31. Senkel S, Lucas B, Klein-Hitpass L et al. Identification of target genes of the transcription factor HNF1beta and HNF1alpha in a human embryonic kidney cell line. Biochim Biophys Acta 2005; 1731: 179-190.
32. Bai Y, Pontoglio M, Hiesberger T et al. Regulation of kidney-specific Ksp-cadherin gene promoter by hepatocyte nuclear factor-1beta. Am J Physiol Renal Physiol 2002; 283: F839-F851.
33. Drewes T, Clairmont A, Klein-Hitpass L et al. Estrogen-inducible derivatives of hepatocyte nuclear factor-4, hepatocyte nuclear factor-3 and liver factor B1 are differently affected by pure and partial antiestrogens. Eur J Biochem 1994; 225: 441-448.
34. Sourdive DJ, Transy C, Garbay S et al. The bifunctional DCOH protein binds to HNF1 independently of its 4-alpha-carbinolamine dehydratase activity. Nucleic Acids Res 1997; 25: 1476-1484.
35. Carroll TJ, Vize PD. Synergism between Pax-8 and lim-1 in embryonic kidney development. Dev Biol 1999; 214: 46-59.
36. Tena JJ, Neto A, de IC-M et al. Odd-skipped genes encode repressors that control kidney development. Dev Biol 2007; 301: 518-531.
37. Horikawa Y, Iwasaki N, Hara M et al. Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. Nat Genet 1997; 17: 384-385.
38. Hardy OT, Hohmeier HE, Becker TC et al. Functional genomics of the beta-cell: short-chain 3-hydroxyacyl-coenzyme A dehydrogenase regulates insulin secretion independent of K+ currents. Mol Endocrinol 2007; 21: 765-773.
39. Le Cam L, Linares LK, Paul C et al. E4F1 is an atypical ubiquitin ligase that modulates p53 effector functions independently of degradation. Cell 2006; 127: 775-788.
40. Chagraoui J, Niessen SL, Lessard J et al. E4F1: a novel candidate factor for mediating BMI1 function in primitive hematopoietic cells. Genes Dev 2006; 20: 2110-2120.
41. Phillips RS, Ramos SB, Blackshear PJ. Members of the tristetraprolin family of tandem CCCH zinc finger proteins exhibit CRM1-dependent nucleocytoplasmic shuttling. J Biol Chem 2002; 277: 11606-11613.
42. Lykke-Andersen J, Wagner E. Recruitment and activation of mRNA decay enzymes by two ARE-mediated decay activation domains in the proteins TTP and BRF-1. Genes Dev 2005; 19: 351-361.
43. Stumpo DJ, Byrd NA, Phillips RS et al. Chorioallantoic fusion defects and embryonic lethality resulting from disruption of Zfp36L1, a gene encoding a CCCH tandem zinc finger protein of the Tristetraprolin family. Mol Cell Biol 2004; 24: 6445-6455.
44. Kaneko T, Chan T, Satow R et al. The isolation and characterization of XC3H-3b: a CCCH zinc-finger protein required for pronephros development. Biochem Biophys Res Commun 2003; 308: 566-572.
45. Bell SE, Sanchez MJ, Spasic-Boskovic O et al. The RNA binding protein Zfp36l1 is required for normal vascularisation and post- transcriptionally regulates VEGF expression. Dev Dyn 2006; 235: 3144-3155.
46. Feinberg AP, Ohlsson R, Henikoff S. The epigenetic progenitor origin of human cancer. Nat Rev Genet 2006; 7: 21-33.
47. Sive H, Grainger RM, Harland RM. Early Development of Xenopus laevis. A Laboratory Manual. Cold Spring Harbor Laboratory Press: Cold Spring Harbor, NY, 2000.