The G115S mutation associated with maturity-onset diabetes of the young impairs hepatocyte nuclear factor 4alpha activities and introduces a PKA phosphorylation site in its DNA-binding domain

Biochem J. 2004 Nov 1;383(Pt. 3):573-80. doi: 10.1042/BJ20040473.

Abstract

HNF4alpha (hepatocyte nuclear factor 4alpha) belongs to a complex transcription factor network that is crucial for the function of hepatocytes and pancreatic beta-cells. In these cells, it activates the expression of a very large number of genes, including genes involved in the transport and metabolism of glucose and lipids. Mutations in the HNF4alpha gene correlate with MODY1 (maturity-onset diabetes of the young 1), a form of type II diabetes characterized by an impaired glucose-induced insulin secretion. The MODY1 G115S (Gly115-->Ser) HNF4alpha mutation is located in the DNA-binding domain of this nuclear receptor. We show here that the G115S mutation failed to affect HNF4alpha-mediated transcription on apolipoprotein promoters in HepG2 cells. Conversely, in pancreatic beta-cell lines, this mutation resulted in strong impairments of HNF4alpha transcriptional activity on the promoters of LPK (liver pyruvate kinase) and HNF1alpha, with this transcription factor playing a key role in endocrine pancreas. We show as well that the G115S mutation creates a PKA (protein kinase A) phosphorylation site, and that PKA-mediated phosphorylation results in a decreased transcriptional activity of the mutant. Moreover, the G115E (Gly115-->Glu) mutation mimicking phosphorylation reduced HNF4alpha DNA-binding and transcriptional activities. Our results may account for the 100% penetrance of diabetes in human carriers of this mutation. In addition, they suggest that introduction of a phosphorylation site in the DNA-binding domain may represent a new mechanism by which a MODY1 mutation leads to loss of HNF4alpha function.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset*
  • Amino Acid Substitution / genetics
  • Binding Sites / genetics
  • Carcinoma, Hepatocellular / genetics
  • Carcinoma, Hepatocellular / pathology
  • Cell Line, Tumor
  • Cyclic AMP-Dependent Protein Kinase Type II
  • Cyclic AMP-Dependent Protein Kinases / metabolism*
  • DNA, Neoplasm / metabolism
  • DNA-Binding Proteins / biosynthesis
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / physiology
  • Diabetes Mellitus / genetics*
  • Glycine / genetics*
  • HeLa Cells / chemistry
  • HeLa Cells / metabolism
  • HeLa Cells / pathology
  • Hepatocyte Nuclear Factor 4
  • Histidine / biosynthesis
  • Histidine / genetics
  • Humans
  • Liver Neoplasms / genetics
  • Liver Neoplasms / pathology
  • Mutation, Missense / genetics*
  • Phosphoproteins / biosynthesis
  • Phosphoproteins / genetics*
  • Phosphoproteins / physiology
  • Phosphorylation
  • Serine / genetics*
  • Serine / metabolism
  • Substrate Specificity
  • Transcription Factors / biosynthesis
  • Transcription Factors / genetics*
  • Transcription Factors / physiology

Substances

  • DNA, Neoplasm
  • DNA-Binding Proteins
  • HNF4A protein, human
  • Hepatocyte Nuclear Factor 4
  • Phosphoproteins
  • Transcription Factors
  • Serine
  • Histidine
  • Cyclic AMP-Dependent Protein Kinase Type II
  • Cyclic AMP-Dependent Protein Kinases
  • Glycine