A conditional model reveals that induction of hepatocyte nuclear factor-1alpha in Hnf1alpha-null mutant beta-cells can activate silenced genes postnatally, whereas overexpression is deleterious

Diabetes. 2006 Aug;55(8):2202-11. doi: 10.2337/db05-1534.

Abstract

Humans with heterozygous loss-of-function mutations in the hepatocyte nuclear factor-1alpha (HNF1alpha) gene develop beta-cell-deficient diabetes (maturity-onset diabetes of the young type 3), indicating that HNF1alpha gene dosage is critical in beta-cells. However, whether increased HNF1alpha expression might be beneficial or deleterious for beta-cells is unknown. Furthermore, although it is clear that HNF1alpha is required for beta-cell function, it is not known whether this role is cell autonomous or whether there is a restricted developmental time frame for HNF1alpha to elicit gene activation in beta-cells. To address this, we generated a tetracycline-inducible mouse model that transcribes HNF1alpha selectively in beta-cells in either wild-type or Hnf1alpha-null backgrounds. Short-term induction of HNF1alpha in islets from adult Hnf1alpha(-/-) mice that did not express HNF1alpha throughout development resulted in the activation of target genes, indicating that HNF1alpha has beta-cell-autonomous functions that can be rescued postnatally. However, transgenic induction throughout development, which inevitably resulted in supraphysiological levels of HNF1alpha, strikingly caused a severe reduction of cellular proliferation, increased apoptosis, and consequently beta-cell depletion and diabetes. Thus, HNF1alpha is sensitive to both reduced and excessive concentrations in beta-cells. This finding illustrates the paramount importance of using the correct concentration of a beta-cell transcription factor in both gene therapy and artificial differentiation strategies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Apoptosis
  • Cell Division
  • Cells, Cultured
  • Diabetes Mellitus / etiology
  • Diabetes Mellitus / pathology
  • Fluorescent Antibody Technique
  • Gene Dosage
  • Gene Expression Regulation* / drug effects
  • Hepatocyte Nuclear Factor 1-alpha / deficiency*
  • Hepatocyte Nuclear Factor 1-alpha / genetics*
  • Hepatocyte Nuclear Factor 1-alpha / physiology
  • Islets of Langerhans / pathology
  • Islets of Langerhans / physiology*
  • Male
  • Mice
  • Mice, Knockout
  • Mice, Transgenic
  • Mutation*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Tetracycline / pharmacology
  • Transcription, Genetic
  • Transcriptional Activation

Substances

  • Hepatocyte Nuclear Factor 1-alpha
  • Hnf1a protein, mouse
  • Tetracycline