K. Hilger-eversheim et al., Regulatory roles of AP-2 transcription factors in vertebrate development, apoptosis and cell-cycle control, GENE, 260(1-2), 2000, pp. 1-12
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 tempor
ally regulated embryonic expression patterns in a number of different tissu
es including neural crest derivatives, neural, epidermal and urogenital tis
sues. Here, we review the current understanding of developmental defects in
AP-2-deficient mice and consider regulatory functions of AP-2 in control o
f apoptosis, cell cycle, and gene expression. Recently, the first inherited
human disorder, Char syndrome, was identified to be caused by AP-2 beta mi
ssense 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 contribu
te to other congenital malformations or neoplastic diseases. (C) 2000 Elsev
ier Science B.V. All rights reserved.