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Abstract：
The p63 gene encodes a master regulator of epidermal commitment, development, and differentiation. Heterozygous mutations in the DNA binding domain cause Ectrodactyly, Ectodermal Dysplasia, characterized by limb deformation, cleft lip/palate, and ectodermal dysplasia while mutations in in the C-terminal domain of the α-isoform cause Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome, a life-threatening disorder characterized by skin fragility, severe, long-lasting skin erosions, and cleft lip/palate. The molecular disease mechanisms of these syndromes have recently become elucidated and have enhanced our understanding of the role of p63 in epidermal development. Here we review the molecular cause and functional consequences of these p63-mutations for skin development and discuss the consequences of p63 mutations for female fertility.
摘要：
p63基因编码表皮定型的主要调节因子，发展,和差异化。DNA结合域中的杂合突变导致Ectrodactyly，外胚层发育不良,以肢体变形为特征，唇裂/腭裂,和外胚层发育不良，而α同种型C末端结构域中的突变会导致下咽-外胚层缺损-唇裂/腭裂（AEC）综合征，一种以皮肤脆弱为特征的危及生命的疾病，严重,持久的皮肤糜烂，唇腭裂.这些综合征的分子疾病机制最近已被阐明，并增强了我们对p63在表皮发育中的作用的理解。在这里，我们回顾了这些p63突变对皮肤发育的分子原因和功能后果，并讨论了p63突变对女性生育能力的影响。
