Biochemical and Functional Characterizations of Dyskerin Complexes

在过去的十年里，含RNA的酶复合体的研究取得了很大的进展。尽管出现了这种上升趋势，但许多含有RNA的酶的组装细节和确切的细胞功能仍然没有得到很好的界定。了解这些细胞过程无疑将揭示对人类健康至关重要的生物学途径。Dyskerin是一种看家酶，参与了两个涉及酶RNA的重要细胞过程：染色体末端的修复和蛋白质合成的调节。Dyskerin基因座的可遗传突变导致多种表型重叠的人类疾病。目前，这些基因改变影响含RNA酶复合体中Dyskerin的多种功能的具体机制以及影响程度尚不清楚。

Research of RNA-containing enzyme complexes has gained much momentum in the past decade. Despite this upswing, details about the assembly, and the precise cellular functions, of many RNA-containing enzymes have remained poorly defined. Understanding these cellular processes will undoubtedly reveal biological pathways essential to human health. Dyskerin is a housekeeping enzyme that participates in two important cellular processes involving enzymatic RNAs: the repair of chromosome ends, and the regulation of protein synthesis. Heritable mutations in the dyskerin locus lead to multiple human diseases with overlapping phenotypes. At present, the specific mechanisms by which these genetic changes impact dyskerin’s multiple functions in RNA-containing enzyme complexes, and to what extent, are not known.