L-Sox5 and Sox6 drive expression of the aggrecan gene in cartilage by securing binding of Sox9 to a far-upstream enhancer

Mol Cell Biol. 2008 Aug;28(16):4999-5013. doi: 10.1128/MCB.00695-08. Epub 2008 Jun 16.

Abstract

The Sry-related high-mobility-group box transcription factor Sox9 recruits the redundant L-Sox5 and Sox6 proteins to effect chondrogenesis, but the mode of action of the trio remains unclear. We identify here a highly conserved 359-bp sequence 10 kb upstream of the Agc1 gene for aggrecan, a most essential cartilage proteoglycan and key marker of chondrocyte differentiation. This sequence directs expression of a minimal promoter in both embryonic and adult cartilage in transgenic mice, in a manner that matches Agc1 expression. The chondrogenic trio is required and sufficient to mediate the activity of this enhancer. It acts directly, Sox9 binding to a critical cis-acting element and L-Sox5/Sox6 binding to three additional elements, which are cooperatively needed. Upon binding to their specific sites, L-Sox5/Sox6 increases the efficiency of Sox9 binding to its own recognition site and thereby robustly potentiates the ability of Sox9 to activate the enhancer. L-Sox5/Sox6 similarly secures Sox9 binding to Col2a1 (encoding collagen-2) and other cartilage-specific enhancers. This study thus uncovers critical cis-acting elements and transcription factors driving Agc1 expression in cartilage and increases understanding of the mode of action of the chondrogenic Sox trio.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Aggrecans / genetics*
  • Animals
  • Base Sequence
  • Binding Sites
  • Cartilage / metabolism*
  • Cell Line
  • Chondrocytes / metabolism
  • Conserved Sequence
  • DNA-Binding Proteins / metabolism
  • Enhancer Elements, Genetic / genetics*
  • Exons / genetics
  • Gene Expression Regulation*
  • High Mobility Group Proteins / metabolism*
  • Humans
  • Mice
  • Mice, Transgenic
  • Molecular Sequence Data
  • Nuclear Proteins / metabolism
  • Protein Binding
  • Rats
  • SOX9 Transcription Factor
  • SOXD Transcription Factors
  • Transcription Factors / metabolism
  • Transfection

Substances

  • Aggrecans
  • DNA-Binding Proteins
  • High Mobility Group Proteins
  • Nuclear Proteins
  • SOX9 Transcription Factor
  • SOX9 protein, human
  • SOXD Transcription Factors
  • Sox5 protein, mouse
  • Sox6 protein, mouse
  • Sox9 protein, mouse
  • Transcription Factors