Regulatory roles of AP-2 transcription factors in vertebrate development, apoptosis and cell-cycle control

Gene. 2000 Dec 30;260(1-2):1-12. doi: 10.1016/s0378-1119(00)00454-6.


AP-2 transcription factors represent a family of three closely related and evolutionarily conserved sequence-specific DNA-binding proteins, AP-2alpha, -beta and -gamma. Subsequent studies have identified spatially and temporally regulated embryonic expression patterns in a number of different tissues including neural crest derivatives, neural, epidermal and urogenital tissues. Here, we review the current understanding of developmental defects in AP-2-deficient mice and consider regulatory functions of AP-2 in control of apoptosis, cell cycle, and gene expression. Recently, the first inherited human disorder, Char syndrome, was identified to be caused by AP-2beta missense mutations. In light of the manifold and essential functions of AP-2 proteins in cell growth, differentiation and programmed death, mutations or changes in precisely programmed expression patterns are likely to contribute to other congenital malformations or neoplastic diseases.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Apoptosis*
  • Cell Cycle*
  • Cell Differentiation
  • DNA-Binding Proteins / genetics
  • DNA-Binding Proteins / physiology*
  • Humans
  • Mutation
  • Transcription Factor AP-2
  • Transcription Factors / genetics
  • Transcription Factors / physiology*
  • Vertebrates / embryology*
  • Vertebrates / genetics


  • DNA-Binding Proteins
  • TFAP2A protein, human
  • TFAP2B protein, human
  • Transcription Factor AP-2
  • Transcription Factors