Marinari Barbara, Ballaro Costanza, Koster Maranke I, Giustizieri Maria Laura, Moretti Francesca, Crosti Francesca, Papoutsaki Marina, Karin Michael, Alema Stefano, Chimenti Sergio, Roop Dennis R, Costanzo Antonio
Department of Dermatology, University of Rome Tor Vergata, Rome, Italy.
J Invest Dermatol. 2009 Jan;129(1):60-9. doi: 10.1038/jid.2008.202. Epub 2008 Jul 17.
The transcription factor p63 plays a pivotal role in the development and differentiation of the epidermis and epithelial appendages. Indeed, mutations in p63 are associated with a group of ectodermal dysplasias characterized by skin, limb, and craniofacial defects. It was hypothesized that p63 exerts its functions by activating specific genes during epidermal development, which in turn regulate epidermal stratification and differentiation. We have identified I-kappaB kinase alpha (IKKalpha) as a direct transcriptional target of p63 that is induced at early phases of terminal differentiation of primary keratinocytes. We show that the DeltaNp63 isoform is required for IKKalpha expression in differentiating keratinocytes and that mutant p63 proteins expressed in ectodermal dysplasia patients exhibit defects in inducing IKKalpha. Furthermore, we observed reduced IKKalpha expression in the epidermis of an ankyloblepharon ectodermal dysplasia clefting patient. Our data demonstrate that a failure to properly express IKKalpha may play a role in the development of ectodermal dysplasias.
转录因子p63在表皮和上皮附属器的发育与分化过程中发挥着关键作用。事实上,p63基因的突变与一组以皮肤、肢体和颅面部缺陷为特征的外胚层发育异常相关。据推测,p63在表皮发育过程中通过激活特定基因发挥其功能,这些基因进而调控表皮分层和分化。我们已确定I-κB激酶α(IKKα)是p63的直接转录靶点,其在原代角质形成细胞终末分化的早期阶段被诱导表达。我们发现,DeltaNp63异构体对于分化中的角质形成细胞表达IKKα是必需的,并且在外胚层发育异常患者中表达的突变p63蛋白在诱导IKKα方面存在缺陷。此外,我们在一名睑缘粘连-外胚层发育异常-腭裂患者的表皮中观察到IKKα表达降低。我们的数据表明,IKKα表达异常可能在外胚层发育异常的发生过程中起作用。
J Invest Dermatol. 2009-1
Proc Natl Acad Sci U S A. 2013-1-25
Indian J Exp Biol. 2011-10
G Ital Dermatol Venereol. 2013-2
Nat Commun. 2017-5-8
Am J Med Genet A. 2014-10
Hum Mol Genet. 2012-10-29
Am J Hum Genet. 2011-12-22