Department of Human Genetics, Molecular Neurogenetics Unit, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
J Invest Dermatol. 2011 Jun;131(6):1196-207. doi: 10.1038/jid.2011.84. Epub 2011 Apr 7.
The transcription factor p63 is essential for the formation of the epidermis and other stratifying epithelia. This is clearly demonstrated by the severe abnormality of p63-deficient mice and by the development of certain types of ectodermal dysplasias in humans as a result of p63 mutations. Investigation of the in vivo functions of p63 is complicated by the occurrence of 10 different splicing isoforms and by its interaction with the other family members, p53 and p73. In vitro and in vivo models have been used to unravel the functions of p63 and its different isoforms, but the results or their interpretation are often contradictory. This review focuses on what mammalian in vivo models and patient studies have taught us in the last 10 years.
转录因子 p63 对于表皮和其他分层上皮的形成是必不可少的。p63 缺失的小鼠严重异常，以及人类由于 p63 突变而导致某些类型的外胚层发育不良，这清楚地表明了这一点。由于 p63 存在 10 种不同的剪接异构体，并且与其家族成员 p53 和 p73 相互作用，因此研究 p63 的体内功能很复杂。体外和体内模型已被用于揭示 p63 及其不同异构体的功能，但结果或其解释往往存在矛盾。这篇综述重点介绍了在过去 10 年中，哺乳动物体内模型和患者研究教会了我们什么。
