Department of Biotechnology, Medical Genetics Research Laboratory, Quaid-i-Azam University, Islamabad, Pakistan.
Department of Environmental Toxicology, University of California, Davis, California.
Exp Dermatol. 2019 May;28(5):618-622. doi: 10.1111/exd.13925.
Defects in keratinocyte transglutaminase (TGM1), resulting in an improper protein scaffold for deposition of the lipid barrier, comprise a major source of autosomal recessive congenital ichthyosis. For that reason, the composition and formation of the cornified (cross-linked) protein envelope of the epidermis have been of considerable interest. Since the isopeptide cross-linked protein components are not individually isolable once incorporated, purified envelopes were analysed by mass spectrometry after trypsin digestion. Quantitative estimates of the identified components revealed some 170 proteins, each comprising at least 0.001% of the total, of which keratins were major constituents accounting for ≈74% of the total. Some prevalent non-keratin constituents such as keratinocyte proline-rich protein, loricrin and late envelope protein-7 were preferentially incorporated into envelopes. The results suggest a model where, as previously observed in hair shaft and nail plate, a diversity of cellular proteins are incorporated. They also help rationalize the minimal effect on epidermis of ablating genes for specific single envelope structural components. The quantitative profile of constituent proteins provides a foundation for future exploration of envelope perturbations that may occur in pathological conditions.
角蛋白转谷氨酰胺酶(TGM1)缺陷导致脂质屏障的沉积蛋白支架异常,是常染色体隐性先天性鱼鳞病的主要病因。因此,表皮的角化(交联)蛋白包膜的组成和形成一直受到广泛关注。由于形成异肽键交联的蛋白成分一旦掺入就无法单独分离,因此对经胰蛋白酶消化后的纯化包膜进行了质谱分析。对鉴定出的成分进行定量估计,发现约有 170 种蛋白,每种蛋白的含量至少占总蛋白的 0.001%,其中角蛋白是主要成分,占总蛋白的 ≈74%。一些常见的非角蛋白成分,如角质形成细胞富含脯氨酸的蛋白、兜甲蛋白和晚期包膜蛋白-7,优先掺入包膜中。研究结果表明,正如先前在头发和指甲板中观察到的那样,存在多种细胞蛋白被掺入的模型。这些结果还有助于解释为什么针对特定单一包膜结构成分的基因缺失对表皮的影响很小。组成蛋白的定量特征为进一步探索可能在病理条件下发生的包膜扰动提供了基础。