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Guide snoRNAs: Drivers or Passengers in Human Disease?

Department of Anatomy and Structural Biology, Albert Einstein College of Medicine, Bronx, New York, NY 10461, USA
Department of Biochemistry and Molecular Biology, College of Medicine, Medical University of South Carolina, Charleston, SC 29425, USA
Author to whom correspondence should be addressed.
These authors contributed equally.
Received: 25 October 2018 / Revised: 16 December 2018 / Accepted: 18 December 2018 / Published: 20 December 2018
(This article belongs to the Special Issue Top 35 of Biology Travel Awards 2018)
PDF [599 KB, uploaded 20 December 2018]


In every domain of life, RNA-protein interactions play a significant role in co- and post-transcriptional modifications and mRNA translation. RNA performs diverse roles inside the cell, and therefore any aberrancy in their function can cause various diseases. During maturation from its primary transcript, RNA undergoes several functionally important post-transcriptional modifications including pseudouridylation and ribose 2′-O-methylation. These modifications play a critical role in the stability of the RNA. In the last few decades, small nucleolar RNAs (snoRNAs) were revealed to be one of the main components to guide these modifications. Due to their active links to the nucleoside modification, deregulation in the snoRNA expressions can cause multiple disorders in humans. Additionally, host genes carrying snoRNA-encoding sequences in their introns also show differential expression in disease. Although few reports support a causal link between snoRNA expression and disease manifestation, this emerging field will have an impact on the way we think about biomarkers or identify novel targets for therapy. This review focuses on the intriguing aspect of snoRNAs that function as a guide in post-transcriptional RNA modification, and regulation of their host genes in human disease. View Full-Text
Keywords: snoRNA; RNA modification; box C/D; box H/ACA; 2’-O-methylation; pseudouridine; human disease snoRNA; RNA modification; box C/D; box H/ACA; 2’-O-methylation; pseudouridine; human disease

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Deogharia, M.; Majumder, M. Guide snoRNAs: Drivers or Passengers in Human Disease? Biology 2019, 8, 1.

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