Developmental Biology Program, Institute of Biotechnology, University of Helsinki, 00014 Helsinki, Finland.
Am J Med Genet A. 2009 Sep;149A(9):2031-6. doi: 10.1002/ajmg.a.32855.
Hypohidrotic (anhidrotic) ectodermal dysplasia (HED) is a congenital syndrome characterized by sparse hair, oligodontia, and reduced sweating. It is caused by mutations in any of the three Eda pathway genes: ectodysplasin (Eda), Edar, and Edaradd which encode a ligand, a receptor, and an intracellular signal mediator of a single linear pathway, respectively. In rare cases, HED is associated with immune deficiency caused by mutations in further downstream components of the Eda pathway that are necessary for the activation of the transcription factor NF-kappaB. Here I present a brief research update on the molecular aspects of this evolutionarily conserved pathway. The developmental role of Eda will be discussed in light of loss- and gain-of-function mouse models with emphasis on the past few years.
汗孔发育不全（无汗性外胚层发育不良）是一种先天性综合征，其特征为毛发稀疏、少牙症和出汗减少。它是由三个 Eda 通路基因中的任何一个突变引起的：ectodysplasin（Eda）、Edar 和 Edaradd，它们分别编码一个配体、一个受体和一个线性通路的细胞内信号介质。在罕见情况下，HED 与 Eda 通路中进一步下游的突变引起的免疫缺陷有关，这些突变对于转录因子 NF-κB 的激活是必需的。在这里，我将简要介绍该进化保守通路的分子方面的最新研究进展。将根据具有功能获得和功能丧失的小鼠模型来讨论 Eda 的发育作用，重点是过去几年的研究。
