Regulatory roles of AP-2 transcription factors in vertebrate development, apoptosis and cell-cycle control.
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.
Hilger-Eversheim
K
K
Institute of Pathology, University Hospital RWTH, Pauwelsstrasse 30, D-52074, Aachen, Germany.
Moser
M
M
Schorle
H
H
Buettner
R
R
D000818:Animals; D017209:Apoptosis; D002453:Cell Cycle; D002454:Cell Differentiation; D004268:DNA-Binding Proteins / Q000235:genetics / Q000502:physiology*; D006801:Humans; D009154:Mutation; D050656:Transcription Factor AP-2; D014157:Transcription Factors / Q000235:genetics / Q000502:physiology*; D014714:Vertebrates / Q000196:embryology* / Q000235:genetics
D004268:DNA-Binding Proteins; C493673:TFAP2A protein, human; C493677:TFAP2B protein, human; D050656:Transcription Factor AP-2; D014157:Transcription Factors