Insight into the Protein Components of the Box H/ACA RNP.
Insight into the Protein Components of the Box H/ACA RNP.
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DOI：
10.2174/157016408784911936
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发表时间：
2008-07-01
影响因子：
0.8
通讯作者：
Yu YT
中科院分区：
文献类型：
--
作者：
Karijolich J;Yu YT
在真核生物中，绝大多数H/ACA盒核糖核蛋白(RNP)负责将伪尿苷(Ψ)转录后引入核糖体RNA(RRNA)和剪接体小核RNA(SnRNA)，从而分别影响蛋白质翻译和前mRNAs剪接。此外，一些不同的Box H/ACA RNPs参与了rRNA的加工和脊椎动物端粒酶RNA的稳定。因此，无论是直接还是间接，Box H/ACA RNPs影响基因表达的主要步骤，并在维持基因组完整性方面发挥作用。每个Box H/ACA RNPs都由一个独特的Box H/ACA RNA和一组四种共同的核心蛋白组成。虽然RNA组分负责决定位点特异性，但四个核心蛋白影响RNP功能的许多方面，包括稳定性和催化潜力。有趣的是，已经在Box H/ACA RNP的核心蛋白中发现了突变，导致了一种罕见的遗传性骨髓衰竭综合征，称为先天性角化不良。这篇综述讨论了我们目前对Box H/ACA RNP蛋白质组分的作用的理解，并提供了一个框架来理解Box H/ACA RNP突变如何在疾病病理中起作用。
Among eukaryotic organisms a vast majority of Box H/ACA ribonucleoproteins (RNPs) are responsible for the post-transcriptional introduction of pseudouridine (Ψ) into ribosomal RNAs (rRNA) and spliceosomal small nuclear RNAs (snRNA), thus influencing protein translation and pre-mRNA splicing, respectively. Additionally, a few distinct Box H/ACA RNPs are involved in the processing of rRNA, and the stabilization of vertebrate telomerase RNA. Thus, whether directly or indirectly, Box H/ACA RNPs impact major steps of gene expression, as well as play a role in maintaining genome integrity. Box H/ACA RNPs each consist of a unique Box H/ACA RNA and a set of four common core proteins. While the RNA component is responsible for dictating site-specificity, the four core proteins impact numerous aspects of RNP function including both stability and catalytic potential. Interestingly, mutations have been identified in the core proteins of the Box H/ACA RNP, resulting in a rare inherited bone marrow failure syndrome referred to as dyskeratosis congenita. This review discusses our current understanding of the roles of the protein components of the Box H/ACA RNP, and provides a framework to understand how mutations in the Box H/ACA RNP contribute to disease pathology.