Rothnagel J A, Greenhalgh D A, Wang X J, Sellheyer K, Bickenbach J R, Dominey A M, Roop D R
Department of Cell Biology, Baylor College of Medicine, Houston, Tex.
Arch Dermatol. 1993 Nov;129(11):1430-6.
Transgenic animals have greatly enhanced our understanding of the contribution of various structural and regulatory components to epidermal biology. The expression of mutant versions of these components in the epidermis of transgenic mice has generated animal models of specific human skin diseases.
The expression of mutant keratin genes has produced animal models of epidermolysis bullosa simplex and epidermolytic hyperkeratosis and, in doing so, has focused attention on the genetics of keratins in these and other skin disorders. Similarly, the generation of mice overexpressing growth factors and/or oncogenes, exclusively in the epidermis, has identified the role of these factors in normal skin and produced models of disease states where the regulation of these factors is perturbed.
These models of keratin disorders and other diseases not only enable the determination of the cause of these disorders, but also allow evaluation of novel therapeutic techniques for the amelioration of these skin diseases.
转基因动物极大地增进了我们对各种结构和调节成分在表皮生物学中所起作用的理解。这些成分的突变体在转基因小鼠表皮中的表达产生了特定人类皮肤疾病的动物模型。
突变角蛋白基因的表达产生了单纯性大疱性表皮松解症和表皮松解性角化过度的动物模型,并且通过这样做,将人们的注意力集中在了这些及其他皮肤疾病中角蛋白的遗传学上。同样,仅在表皮中过表达生长因子和/或癌基因的小鼠的产生,确定了这些因子在正常皮肤中的作用,并产生了这些因子调节受到干扰的疾病状态模型。
这些角蛋白疾病和其他疾病的模型不仅能够确定这些疾病的病因,还能评估用于改善这些皮肤病的新型治疗技术。