Genetic pathways in disorders of epidermal differentiation

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• 作者：Vanessa Lopez-Pajares¹ ; ² ; Karen Yan¹ ; ² ; Brian J. Zarnegar¹ ; ² ; Katherine L. Jameson¹ ; ² ; Paul A. Khavari¹ ; ² ; ^{khavari@stanford.edu}
• 关键词：epidermis ; differentiation ; genetics ; skin disease ; keratinocyte
• 刊名：Trends in Genetics
• 出版年：2013
• 出版时间：January, 2013
• 年：2013
• 卷：29
• 期：1
• 页码：31-40
• 全文大小：1977 K

文摘

More than 100 human genetic skin diseases, impacting over 20 % of the population, are characterized by disrupted epidermal differentiation. A significant proportion of the 90 genes identified in these disorders to date are concentrated within several functional pathways, suggesting the emergence of organizing themes in epidermal differentiation. Among these are the Notch, transforming growth factor ¦Â (TGF¦Â), I¦ÊB kinase (IKK), Ras/mitogen-activated protein kinase (MAPK), phosphoinositide 3-kinase (PI3K), p63, and Wnt signaling pathways, as well as core biological processes mediating calcium homeostasis, tissue integrity, cornification, and lipid biogenesis. Here, we review recent results supporting the central role of these pathways in epidermal differentiation, highlighting the integration of genetic information with functional studies to illuminate the biological actions of these pathways in humans as well as to guide development of future therapeutics to correct their dysfunction.