Hilger-Eversheim K, Moser M, Schorle H, Buettner R
Institute of Pathology, University Hospital RWTH, Pauwelsstrasse 30, D-52074, Aachen, Germany.
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.
AP - 2转录因子代表一个由三种密切相关且在进化上保守的序列特异性DNA结合蛋白组成的家族，即AP - 2α、 - β和 - γ。随后的研究已经在包括神经嵴衍生物、神经、表皮和泌尿生殖组织在内的许多不同组织中确定了在空间和时间上受到调控的胚胎表达模式。在这里，我们综述了目前对AP - 2缺陷小鼠发育缺陷的理解，并探讨了AP - 2在控制细胞凋亡、细胞周期和基因表达方面的调控功能。最近，首个遗传性人类疾病——查尔综合征被确定为由AP - 2β错义突变引起。鉴于AP - 2蛋白在细胞生长、分化和程序性死亡中具有多种重要功能，精确编程的表达模式发生突变或改变可能会导致其他先天性畸形或肿瘤性疾病。
