The transcription factor MEF2C is required for craniofacial development

Dev Cell. 2007 Apr;12(4):645-52. doi: 10.1016/j.devcel.2007.03.007.

Abstract

MEF2 transcription factors are well-established regulators of muscle development. We have discovered an unanticipated role for MEF2C in the neural crest, where tissue-specific inactivation results in neonatal lethality due to severe craniofacial defects. We show that MEF2C is required for expression of the Dlx5, Dlx6, and Hand2 transcription factor genes in the branchial arches, and we identify a branchial arch-specific enhancer in the Dlx5/6 locus, which is activated synergistically by MEF2C and Dlx5, demonstrating that these factors interact to induce transcription. Mef2c and Dlx5/6 also interact genetically. Mice heterozygous for either Dlx5/6 or Mef2c are normal at birth and survive to weaning. By contrast, heterozygosity for both Mef2c and Dlx5/6 results in defective palate development and neonatal lethality. Taken together, the studies presented here define a feed-forward transcriptional circuit between the MADS-box transcription factor MEF2C and the homeodomain transcription factors Dlx5 and Dlx6 in craniofacial development.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Airway Obstruction / embryology
  • Airway Obstruction / mortality
  • Animals
  • Base Sequence
  • Basic Helix-Loop-Helix Transcription Factors / metabolism
  • Branchial Region / metabolism*
  • Enhancer Elements, Genetic
  • Face / embryology*
  • Gene Targeting
  • Heterozygote
  • Homeodomain Proteins / genetics
  • Homeodomain Proteins / metabolism
  • MEF2 Transcription Factors
  • Mice
  • Mice, Knockout
  • Molecular Sequence Data
  • Myogenic Regulatory Factors / genetics
  • Myogenic Regulatory Factors / metabolism*
  • Myogenic Regulatory Factors / physiology
  • NIH 3T3 Cells
  • Neural Crest / metabolism*
  • Skull / embryology*
  • Skull / metabolism
  • Transcription Factors / genetics
  • Transcription Factors / metabolism*
  • Transfection

Substances

  • Basic Helix-Loop-Helix Transcription Factors
  • Distal-less homeobox proteins
  • Hand2 protein, mouse
  • Homeodomain Proteins
  • MEF2 Transcription Factors
  • Mef2c protein, mouse
  • Myogenic Regulatory Factors
  • Transcription Factors