RNA-guided isomerization of uridine to pseudouridine--pseudouridylation.
Box H/ACA ribonucleoproteins (RNPs), each consisting of one unique guide RNA and 4 common core proteins, constitute a family of complex enzymes that catalyze, in an RNA-guided manner, the isomerization of uridines to pseudouridines (Ψs) in RNAs, a reaction known as pseudouridylation. Over the years, box H/ACA RNPs have been extensively studied revealing many important aspects of these RNA modifying machines. In this review, we focus on the composition, structure, and biogenesis of H/ACA RNPs. We explain the mechanism of how this enzyme family recognizes and specifies its target uridine in a substrate RNA. We discuss the substrates of box H/ACA RNPs, focusing on rRNA (rRNA) and spliceosomal small nuclear RNA (snRNA). We describe the modification product Ψ and its contribution to RNA function. Finally, we consider possible mechanisms of the bone marrow failure syndrome dyskeratosis congenita and of prostate and other cancers linked to mutations in H/ACA RNPs.
['Yu|Yi-Tao|YT|', 'Meier|U Thomas|UT|']
D019871:Dyskeratosis Congenita D006801:Humans D007536:Isomerism D008297:Male D009154:Mutation D009690:Nucleic Acid Conformation D011471:Prostatic Neoplasms D011560:Pseudouridine D012323:RNA Processing, Post-Transcriptional D017394:RNA, Guide D012335:RNA, Ribosomal D012342:RNA, Small Nuclear D012345:RNA, Transfer, Amino Acid-Specific D017411:Ribonucleoproteins, Small Nuclear D014529:Uridine
RNA-guided H/ACA ribonucleoproteins pseudouridine rRNA spliceosomal small nuclear RNA dyskeratosis congenita DC, dyskeratosis congenita HH, hoyeraal-hreidarsson syndrome PIKK, phosphatidylinositol 3-kinase-related kinase PUA, pseudouridylase and archaeosine transglycosylase RNA modification RNP, ribonucleoprotein SMN, survival of motor neuron protein SSD, SHQ1 specific domain U, uridine X-DC, X-linked dyskeratosis congenita prostate cancer rRNA, ribosomal RNA sca, small Cajal body snRNA, small nuclear RNA sno, small nucleolar snoRNA snoRNA, small nucleolar RNA tRNA, transfer RNA ψ, pseudouridine, 5-ribosyluracil