In the hereditary blistering condition epidermolysis bullosa simplex, the skin blisters on trauma following rupture of epidermal basal cells. Clinical variations range from severely incapacitating, especially in early childhood, to mild forms that may not even present clinically. Dowling-Meara epidermolysis bullosa simplex is characterized by clusters of epidermal blisters and keratin clumping in the cytoplasm; recent reports describe potentially causal mutations in keratin 14 (refs 2, 3). Here we describe a 'complementary' mutation at the other end of the other keratin expressed by these cells (K5, coexpressed with K14), a change from a Glu to a Gly in the helix termination peptide, detected by altered antibody binding and confirmed by sequencing using the polymerase chain reaction. The two conserved helix boundary peptides are predicted to be essential for filament assembly, and the requirement for two complementary (type I and type II) keratins is absolute. Epidermolysis bullosa simplex diseases demonstrate the function of the keratin cytoskeleton in resisting compaction stresses which otherwise lead to cell lysis.

译文

:在大疱性表皮松解的遗传性起泡情况下,表皮基底细胞破裂后,皮肤因创伤而起水泡。临床变化范围从严重丧失工作能力(尤其是在儿童早期丧失工作能力)到可能甚至在临床上都不存在的轻度形式。 Dowling-Meara表皮松解性大疱性单纯疱疹的特征是在细胞质中有表皮水泡簇和角蛋白聚集。最近的报道描述了角蛋白14中潜在的因果突变(参考文献2、3)。在这里,我们描述了由这些细胞表达的其他角蛋白(K5,与K14共表达)另一端的“互补”突变,螺旋终止肽从Glu变为Gly的变化,通过改变抗体结合来检测并通过使用聚合酶链反应进行测序。预测这两个保守的螺旋边界肽对于长丝组装是必不可少的,并且对两个互补的(I型和II型)角蛋白的需求是绝对的。表皮松解性大疱性单纯性疾病证明了角蛋白细胞骨架在抵抗压紧应力方面的功能,否则该压紧应力会导致细胞溶解。

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