hepatocyte nuclear factor 1 beta


Summary: A hepatocyte nuclear factor that is closely related to HEPATOCYTE NUCLEAR FACTOR 1-ALPHA but is only weakly expressed in the LIVER. Mutations in hepatocyte nuclear factor 1-beta are associated with renal CYSTS and MATURITY-ONSET DIABETES MELLITUS type 5.

Top Publications

  1. Zuber J, Bellanne Chantelot C, Carette C, Canaud G, Gobrecht S, Gaha K, et al. HNF1B-related diabetes triggered by renal transplantation. Nat Rev Nephrol. 2009;5:480-4 pubmed publisher
    ..Renal ultrasonography and screening for the HNF1B molecular abnormality were offered to the patient's relatives. ..
  2. Kobayashi H, Kajiwara H, Kanayama S, Yamada Y, Furukawa N, Noguchi T, et al. Molecular pathogenesis of endometriosis-associated clear cell carcinoma of the ovary (review). Oncol Rep. 2009;22:233-40 pubmed
    ..The molecular pathology of CCC is heterogeneous and involves various putative precursor lesions and multiple pathways of development, possibly via genetic alteration by oxidative stress. ..
  3. Giglio S, Contini E, Toni S, Pela I. Growth hormone therapy-related hyperglycaemia in a boy with renal cystic hypodysplasia and a new mutation of the HNF1 beta gene. Nephrol Dial Transplant. 2010;25:3116-9 pubmed publisher
    ..This is particularly important in regard to genetic counselling. ..
  4. Kobayashi H, Yamada Y, Kanayama S, Furukawa N, Noguchi T, Haruta S, et al. The role of hepatocyte nuclear factor-1beta in the pathogenesis of clear cell carcinoma of the ovary. Int J Gynecol Cancer. 2009;19:471-9 pubmed publisher
    ..This review summarizes recent advances in the HNF-1beta and its target genes; the potential challenges to the understanding of carcinogenesis, pathogenesis, and pathophysiology of CCC; and a possible novel model is proposed. ..
  5. Grigorieva I, Mirczuk S, Gaynor K, Nesbit M, Grigorieva E, Wei Q, et al. Gata3-deficient mice develop parathyroid abnormalities due to dysregulation of the parathyroid-specific transcription factor Gcm2. J Clin Invest. 2010;120:2144-55 pubmed publisher
    ..Thus, GATA3 is critical for the differentiation and survival of parathyroid progenitor cells and, with GCM2/B, forms part of a transcriptional cascade in parathyroid development and function. ..
  6. Abdul Rahman O, Edghill E, Kwan A, Enns G, Hattersley A. Hypoplastic glomerulocystic kidney disease and hepatoblastoma: a potential association not caused by mutations in hepatocyte nuclear factor 1beta. J Pediatr Hematol Oncol. 2009;31:527-9 pubmed publisher
    ..We propose that hypoplastic glomerulocystic kidney disease and hepatoblastoma represent a possible association, and we excluded mutations in hepatocyte nuclear factor-1beta in our patient as causative of this putative association. ..
  7. Liu P, Khurana A, Rattan R, He X, Kalloger S, Dowdy S, et al. Regulation of HSulf-1 expression by variant hepatic nuclear factor 1 in ovarian cancer. Cancer Res. 2009;69:4843-50 pubmed publisher
    ..Collectively, these results indicate that vHNF1 acts as a repressor of HSulf-1 expression and might be a molecular target for ovarian cancer therapy. ..
  8. Bacchetta J, Plotton I, Ranchin B, Vial T, Nicolino M, Morel Y, et al. Precocious puberty and unlicensed paediatric drugs for severe hyperparathyroidism. Nephrol Dial Transplant. 2009;24:2595-8 pubmed publisher
    ..Monitoring of plasma testosterone in patients receiving unlicensed paediatric drugs for managing hyperparathyroidism and presenting with a change in genitals is therefore recommended. ..
  9. Brochard K, Decramer S. [Cystic and hyperechogenic kidneys in children]. Nephrol Ther. 2010;6:272-9 pubmed publisher
    ..A better classification of these patients allows tailor-made follow-up and care improvement. ..

More Information


  1. Adalat S, Woolf A, Johnstone K, Wirsing A, Harries L, Long D, et al. HNF1B mutations associate with hypomagnesemia and renal magnesium wasting. J Am Soc Nephrol. 2009;20:1123-31 pubmed publisher
    ..HNF1B regulates transcription of FXYD2, which participates in the tubular handling of Mg(2+), thus describing a role for HNF1B not only in nephrogenesis but also in the maintenance of tubular function. ..
  2. Bernardini L, Gimelli S, Gervasini C, Carella M, Baban A, Frontino G, et al. Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports. Orphanet J Rare Dis. 2009;4:25 pubmed publisher
    ..The present two patients expand the clinical spectrum associated with this imbalance and suggest that this region is a candidate locus for a subset of MRKH syndrome individuals, with or without renal defects. ..
  3. Lokmane L, Heliot C, Garcia Villalba P, Fabre M, Cereghini S. vHNF1 functions in distinct regulatory circuits to control ureteric bud branching and early nephrogenesis. Development. 2010;137:347-57 pubmed publisher
  4. Solar M, Cardalda C, Houbracken I, Martin M, Maestro M, De Medts N, et al. Pancreatic exocrine duct cells give rise to insulin-producing beta cells during embryogenesis but not after birth. Dev Cell. 2009;17:849-60 pubmed publisher
    ..Thus, once the ductal epithelium differentiates it has a restricted plasticity, even under regenerative settings. ..
  5. Nakayama M, Nozu K, Goto Y, Kamei K, Ito S, Sato H, et al. HNF1B alterations associated with congenital anomalies of the kidney and urinary tract. Pediatr Nephrol. 2010;25:1073-9 pubmed publisher
    ..The recurrent microdeletions encompassing HNF1B could have a significant impact on the mechanism of HNF1B deletions...
  6. Li L, Zepeda Orozco D, Black R, Lin F. Autophagy is a component of epithelial cell fate in obstructive uropathy. Am J Pathol. 2010;176:1767-78 pubmed publisher
    ..Increased autophagy may represent a mechanism of tubular survival or may contribute to excessive cell death and tubular atrophy after obstructive injury. ..
  7. Nagamani S, Erez A, Shen J, Li C, Roeder E, Cox S, et al. Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12. Eur J Hum Genet. 2010;18:278-84 pubmed publisher
    ..Our findings expand the phenotypic spectrum associated with rearrangements of 17q12 and show that cognitive impairment is a part of the phenotype of individuals with deletions of 17q12. ..
  8. D Angelo A, Bluteau O, Garcia Gonzalez M, Gresh L, Doyen A, Garbay S, et al. Hepatocyte nuclear factor 1alpha and beta control terminal differentiation and cell fate commitment in the gut epithelium. Development. 2010;137:1573-82 pubmed publisher
    ..Our study identifies new direct target genes of the Hnf1 transcription factors and shows that they play crucial roles in both defining cell fate and controlling terminal functions in the gut epithelium. ..
  9. Le Berre J, Bellanne Chantelot C, Bordier L, Garcia C, Dupuy O, Mayaudon H, et al. [Type 2 diabetes mellitus associated with pancreatic and renal malformations]. Rev Med Interne. 2010;31:e5-6 pubmed publisher
    ..This atypical diabetes raised the possibility of maturity onset diabetes of the young (MODY) and a genetic research was performed. These malformations led to MODY5 diagnosis that was confirmed by the presence of HNF1beta gene mutation. ..
  10. Kato N, Motoyama T. Hepatocyte nuclear factor-1beta(HNF-1beta) in human urogenital organs: its expression and role in embryogenesis and tumorigenesis. Histol Histopathol. 2009;24:1479-86 pubmed publisher
    ..In this review, we first summarize HNF-1beta expression in the developing urogenital system of the human embryo. Then, we describe the HNF-1beta status in human urogenital neoplasms and discuss its role in tumorigenesis. ..
  11. Brito E, Lyssenko V, Renstrom F, Berglund G, Nilsson P, Groop L, et al. Previously associated type 2 diabetes variants may interact with physical activity to modify the risk of impaired glucose regulation and type 2 diabetes: a study of 16,003 Swedish adults. Diabetes. 2009;58:1411-8 pubmed publisher
    ..015 and 0.0068, respectively). Our observations suggest that the genetic predisposition to hyperglycemia is partially dependent on a person's lifestyle. ..
  12. Kato N, Motoyama T. Expression of hepatocyte nuclear factor-1beta in human urogenital tract during the embryonic stage. Anal Quant Cytol Histol. 2009;31:34-40 pubmed
    ..Uncommon HNF-1beta expression in müllerian duct derivatives implies that involvement of HNF-1beta in the müllerian duct system is limited to a specific embryonic period. ..
  13. Servitja J, Pignatelli M, Maestro M, Cardalda C, Boj S, Lozano J, et al. Hnf1alpha (MODY3) controls tissue-specific transcriptional programs and exerts opposed effects on cell growth in pancreatic islets and liver. Mol Cell Biol. 2009;29:2945-59 pubmed publisher
  14. Haaland W, Scaduto D, Maldonado M, Mansouri D, Nalini R, Iyer D, et al. A-beta-subtype of ketosis-prone diabetes is not predominantly a monogenic diabetic syndrome. Diabetes Care. 2009;32:873-7 pubmed publisher
    ..Several A-beta- KPD patients have low-frequency variants in HNF1A, PDX1, or PAX4 genes, which may be of functional significance in their pathophysiology. ..
  15. San Cristobal P, Dimke H, Hoenderop J, Bindels R. Novel molecular pathways in renal Mg2+ transport: a guided tour along the nephron. Curr Opin Nephrol Hypertens. 2010;19:456-62 pubmed publisher
    ..Recent genetic and molecular studies have further elucidated the processes that govern renal Mg transport and hence systemic Mg balance. This has provided us with new tools to understand the molecular pathology behind hypomagnesemia. ..
  16. Lüdtke T, Christoffels V, Petry M, Kispert A. Tbx3 promotes liver bud expansion during mouse development by suppression of cholangiocyte differentiation. Hepatology. 2009;49:969-78 pubmed publisher
    ..Tbx3 controls liver bud expansion by suppressing cholangiocyte and favoring hepatocyte differentiation in the liver bud. ..
  17. Buchner A, Castro M, Hennig A, Popp T, Assmann G, Stief C, et al. Downregulation of HNF-1B in renal cell carcinoma is associated with tumor progression and poor prognosis. Urology. 2010;76:507.e6-11 pubmed publisher
    ..HNF-1B might be a useful prognostic factor for metastatic RCC and also a potential therapeutic target in the future. ..
  18. Surendran K, Selassie M, Liapis H, Krigman H, Kopan R. Reduced Notch signaling leads to renal cysts and papillary microadenomas. J Am Soc Nephrol. 2010;21:819-32 pubmed publisher
  19. Heidet L, Decramer S, Pawtowski A, Moriniere V, Bandin F, Knebelmann B, et al. Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases. Clin J Am Soc Nephrol. 2010;5:1079-90 pubmed publisher
    ..This large series showed that the severity of the renal disease associated with HNF1B mutations was extremely variable (from prenatal renal failure to normal renal function in adulthood) and was not correlated with the genotype. ..
  20. Cordell H, Darlay R, Charoen P, Stewart A, Gullett A, Lambert H, et al. Whole-genome linkage and association scan in primary, nonsyndromic vesicoureteric reflux. J Am Soc Nephrol. 2010;21:113-23 pubmed publisher
    ..The results of this study, which is the largest to date investigating the genetics of reflux, suggest that major loci may not exist for this common renal tract malformation within European populations. ..
  21. Defert S, Harika G, Derniaux E, Nakib I. [Maturity-onset-diabetes-of-the young-5 and genital malformations diagnostic management: case report]. J Gynecol Obstet Biol Reprod (Paris). 2010;39:159-62 pubmed publisher
  22. Stevens V, Ahn J, Sun J, Jacobs E, Moore S, Patel A, et al. HNF1B and JAZF1 genes, diabetes, and prostate cancer risk. Prostate. 2010;70:601-7 pubmed publisher
  23. Verdeguer F, Le Corre S, Fischer E, Callens C, Garbay S, Doyen A, et al. A mitotic transcriptional switch in polycystic kidney disease. Nat Med. 2010;16:106-10 pubmed publisher
    ..This association suggests that HNF-1beta is a bookmarking factor that is necessary for reopening the chromatin of target genes after mitotic silencing...
  24. Plengvidhya N, Boonyasrisawat W, Chongjaroen N, Jungtrakoon P, Sriussadaporn S, Vannaseang S, et al. Mutations of maturity-onset diabetes of the young (MODY) genes in Thais with early-onset type 2 diabetes mellitus. Clin Endocrinol (Oxf). 2009;70:847-53 pubmed publisher
    ..Mutations of the six known MODY genes may not be a major cause of MODY and early-onset type 2 diabetes in Thais. Therefore, unidentified genes await discovery in a majority of Thai patients with MODY and early-onset type 2 diabetes. ..
  25. Raile K, Klopocki E, Holder M, Wessel T, Galler A, Deiss D, et al. Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the young. J Clin Endocrinol Metab. 2009;94:2658-64 pubmed publisher
    ..The underlying molecular defect in all cases was a 1.3- to 1.7-Mb deletion, and paired, segmental duplications along with breakpoints were most likely involved in this recurrent chromosomal microdeletion. ..
  26. Kajihara H, Yamada Y, Kanayama S, Furukawa N, Noguchi T, Haruta S, et al. Clear cell carcinoma of the ovary: potential pathogenic mechanisms (Review). Oncol Rep. 2010;23:1193-203 pubmed
    ..A redox-sensitive subset of cEOC genes linked to oxidative and detoxification pathways was identified and associated with HNF-1beta-specific downstream targets. ..
  27. Harries L, Brown J, Gloyn A. Species-specific differences in the expression of the HNF1A, HNF1B and HNF4A genes. PLoS ONE. 2009;4:e7855 pubmed publisher
    ..We conclude that alterations to expression of HNF isoforms may underlie some of the phenotypic variation caused by mutations in these genes. ..
  28. Ulinski T, Bensman A, Lescure S. [Abnormalities of hepatocyte nuclear factor (HNF)-1beta: biological mechanisms, phenotypes, and clinical consequences]. Arch Pediatr. 2009;16:1049-56 pubmed publisher
  29. Elliott K, Zeggini E, McCarthy M, Gudmundsson J, Sulem P, Stacey S, et al. Evaluation of association of HNF1B variants with diverse cancers: collaborative analysis of data from 19 genome-wide association studies. PLoS ONE. 2010;5:e10858 pubmed publisher
    ..The examined HNF1B variants have a highly specific effect on prostate cancer risk with no apparent association with any of the other studied cancer types. ..
  30. Rigothier C, Harambat J, Llanas B, Subra J, Combe C. [Phenotypic heterogeneity of TCF2's gene mutation coding for HNF-1 beta in a single family]. Nephrol Ther. 2009;5:287-91 pubmed publisher
  31. Roose M, Sauert K, Turan G, Solomentsew N, Werdien D, Pramanik K, et al. Heat-shock inducible Cre strains to study organogenesis in transgenic Xenopus laevis. Transgenic Res. 2009;18:595-605 pubmed publisher
    ..Thus, we have established the first binary inducible gene expression system in Xenopus laevis that can be used to study organogenesis. ..
  32. Wang C, Hu C, Zhang R, Bao Y, Ma X, Lu J, et al. Common variants of hepatocyte nuclear factor 1beta are associated with type 2 diabetes in a Chinese population. Diabetes. 2009;58:1023-7 pubmed publisher
    ..0228). The result of this study provides evidence that variants in the HNF1beta region contribute to susceptibility to type 2 diabetes in the Chinese population. ..
  33. Dressler G. Turning the page on epigenetic bookmarks. Dev Cell. 2010;18:4-5 pubmed publisher
  34. Haeri S, Devers P, Kaiser Rogers K, Moylan V, Torchia B, Horton A, et al. Deletion of hepatocyte nuclear factor-1-beta in an infant with prune belly syndrome. Am J Perinatol. 2010;27:559-63 pubmed publisher
  35. Oram R, Edghill E, Blackman J, Taylor M, Kay T, Flanagan S, et al. Mutations in the hepatocyte nuclear factor-1? (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations. Am J Obstet Gynecol. 2010;203:364.e1-5 pubmed publisher
    ..We suggest that HNF1B testing should be performed in patients with both renal and uterine abnormalities, but not in patients with isolated uterine abnormalities. ..