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-2 alpha, -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-2 beta 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. (C) 2000 Elsevier Science B.V. All rights reserved.