Biochemical and Functional Characterizations of Dyskerin Complexes

Dyskerin 复合物的生化和功能表征

• 批准号: RGPIN-2015-05843
• 负责人: Wong, Judy
• 金额: $ 2.19万
• 依托单位: University of British Columbia
• 依托单位国家: 加拿大
• 项目类别: Discovery Grants Program - Individual
• 财政年份: 2017
• 资助国家: 加拿大
• 起止时间: 2017-01-01 至 2018-12-31
• 项目状态: 已结题
• 来源: https://www.nserc-crsng.gc.ca/ase-oro/Details-Detailles_eng.asp?id=629990
• 关键词: Biochemical; Functional; Characterizations; Dyskerin; Complexes

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.

在过去的十年中，含RNA的酶复合物的研究获得了很大的动力。尽管有这种上升，关于许多含RNA酶的组装和精确的细胞功能的细节仍然很不清楚。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是一种管家酶，参与两个重要的涉及酶RNA的细胞过程：染色体末端的修复和蛋白质合成的调节。dyskerin基因座中的遗传突变导致具有重叠表型的多种人类疾病。目前，这些遗传变化影响dyskerin在含RNA的酶复合物中的多种功能的具体机制，以及在多大程度上，尚不清楚。