The human pseudoxanthoma elasticum gene ABCC6 is transcriptionally regulated by PLAG family transcription factors

Hum Genet. 2008 Dec;124(5):451-63. doi: 10.1007/s00439-008-0570-0. Epub 2008 Oct 12.

Abstract

Mutations in the ABCC6 gene are known as causative factors of pseudoxanthoma elasticum (PXE), a connective tissue calcification disorder, but the molecular mechanism of pathogenesis or the physiological function of ABCC6 protein is the subject of intense debate. The ABCC6 gene expression is tightly regulated at the transcriptional level and its tissue-specific distribution is consistent with PXE being a metabolic disease caused by failure of ABCC6 function in organs distant from the diseased sites. In an effort to provide clues to its role by elucidating the mechanisms of its regulation, we identified ABCC6 as a target gene for transcriptional induction by PLAG1 and PLAGL1, transcription factors from the PLAG family of cell cycle progression-related DNA-binding proteins. Both these factors are shown to bind to the same single consensus-binding element in the ABCC6 proximal promoter in cell lines of hepatic and renal origin by reporter gene assay, electrophoretic mobility shift assay and chromatin immunoprecipitation. PLAG-mediated ABCC6 transactivation may play an important role in determining the level of tissue-specific expression of this gene. The described mechanism can also find potential application in therapeutic interventions in forms of PXE related to impaired ABCC6 expression.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Binding Sites / genetics
  • Cell Cycle Proteins / genetics
  • Cell Cycle Proteins / metabolism*
  • Cell Line
  • Chromatin Immunoprecipitation
  • DNA / genetics
  • DNA / metabolism
  • DNA Primers / genetics
  • DNA-Binding Proteins / genetics
  • DNA-Binding Proteins / metabolism*
  • Electrophoretic Mobility Shift Assay
  • Humans
  • Multidrug Resistance-Associated Proteins / genetics*
  • Mutagenesis, Site-Directed
  • Promoter Regions, Genetic
  • Pseudoxanthoma Elasticum / genetics*
  • Pseudoxanthoma Elasticum / metabolism*
  • Recombinant Proteins / genetics
  • Recombinant Proteins / metabolism
  • Transcription Factors / genetics
  • Transcription Factors / metabolism*
  • Transcriptional Activation
  • Transfection
  • Tumor Suppressor Proteins / genetics
  • Tumor Suppressor Proteins / metabolism*

Substances

  • ABCC6 protein, human
  • Cell Cycle Proteins
  • DNA Primers
  • DNA-Binding Proteins
  • Multidrug Resistance-Associated Proteins
  • PLAG1 protein, human
  • PLAGL1 protein, human
  • Recombinant Proteins
  • Transcription Factors
  • Tumor Suppressor Proteins
  • DNA