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Gene. 2000 Dec 30;260(1-2):1-12.

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

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Institute of Pathology, University Hospital RWTH, Pauwelsstrasse 30, D-52074, Aachen, Germany.


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.

[Indexed for MEDLINE]

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