Among eukaryotic organisms a vast majority of Box H/ACA ribonucleoproteins (RNPs) are responsible for the post-transcriptional introduction of pseudouridine (Psi) 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.

中文翻译：

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深入了解 Box H/ACA RNP 的蛋白质成分

在真核生物中，绝大多数 Box H/ACA 核糖核蛋白 (RNP) 负责将假尿苷 (Psi) 转录后引入核糖体 RNA (rRNA) 和剪接体小核 RNA (snRNA)，从而影响蛋白质翻译和前分别进行 mRNA 剪接。此外，一些不同的 Box H/ACA RNP 参与了 rRNA 的加工和脊椎动物端粒酶 RNA 的稳定化。因此，无论是直接还是间接，Box H/ACA RNP 都会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。Box H/ACA RNPs 每个都由一个独特的 Box H/ACA RNA 和一组四种常见的核心蛋白组成。虽然 RNA 成分负责决定位点特异性，四种核心蛋白影响 RNP 功能的许多方面，包括稳定性和催化潜力。有趣的是，在 Box H/ACA RNP 的核心蛋白中发现了突变，导致一种罕见的遗传性骨髓衰竭综合征，称为先天性角化不良。本综述讨论了我们目前对 Box H/ACA RNP 蛋白质成分作用的理解，并提供了一个框架来了解 Box H/ACA RNP 中的突变如何导致疾病病理。