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Current Proteomics


ISSN (Print): 1570-1646
ISSN (Online): 1875-6247

Insight into the Protein Components of the Box H/ACA RNP

Author(s): John Karijolich and Yi-Tao Yu

Volume 5, Issue 2, 2008

Page: [129 - 137] Pages: 9

DOI: 10.2174/157016408784911936

Price: $65


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.

Keywords: Box H/ACA RNA, Box H/ACA RNP, pseudouridine, dyskeratosis congenita, pre-mRNA splicing, ribosome biogenesis, telomerase

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