Faculty Opinions recommendation of Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome.

2002 ◽  
Author(s):  
L. Alison McInnes
Keyword(s):  
Prader Willi Syndrome ◽  
Small Nucleolar Rnas ◽  
Nucleolar Rnas

scholarly journals Evidence for the Role of PWCR1/HBII-85 C/D Box Small Nucleolar RNAs in Prader-Willi Syndrome

2002 ◽  
Vol 71 (3) ◽  
pp. 669-678 ◽  
Author(s):  
Renata C. Gallagher ◽  
Birgit Pils ◽  
Mohammed Albalwi ◽  
Uta Francke
Keyword(s):  
Prader Willi Syndrome ◽  
Small Nucleolar Rnas ◽  
Nucleolar Rnas

scholarly journals When small RNAs become smaller: non - canonical functions of snoRNAs and their derivatives

2017 ◽  
Vol 63 (4) ◽  
Author(s):  
Anna Maria Mleczko ◽  
Kamilla Bąkowska-Żywicka
Keyword(s):  
Alternative Splicing ◽  
Small Rnas ◽  
Metabolic Stress ◽  
Full Length ◽  
Human Diseases ◽  
Cajal Bodies ◽  
Prader Willi Syndrome ◽  
Small Nucleolar Rnas ◽  
Stress Regulation ◽  
Nucleolar Rnas

Small nucleolar RNAs (snoRNAs) are molecules placed in the cell nucleolus and in Cajal bodies. Many scientific reports clearly show that snoRNAs are not only responsible for modifications of other RNAs but also possess multiple other functions such as metabolic stress regulation or modulation of alternative splicing. Full-length snoRNAs as well as small RNAs derived from snoRNAs have been implied in human diseases such as cancer or Prader – Willi Syndrome.  In this review we would like to describe these non – canonical roles of snoRNAs and their derivatives  with the emphasis on their role in human diseases. 

scholarly journals jouvence, a new human H/ACA snoRNA involves in the control of cell proliferation and differentiation

2020 ◽  
Author(s):  
Flaria El-Khoury ◽  
Jérôme Bignon ◽  
Jean-René Martin
Keyword(s):  
Cell Proliferation ◽  
Small Nucleolar Rnas ◽  
Primary Cells ◽  
Cell Proliferation And Differentiation ◽  
Cancerous Cell ◽  
Proliferation And Differentiation ◽  
Non Coding Rnas ◽  
Nucleolar Rnas

AbstractSmall nucleolar RNAs (snoRNAs) are non-coding RNAs conserved from archeobacteria to mammals. In humans, various snoRNAs have been associated with pathologies as well as with cancer. Recently in Drosophila, a new snoRNA named jouvence has been involved in lifespan. Since snoRNAs are well conserved through evolution, both structurally and functionally, jouvence orthologue has been identified in human, allowing hypothesizing that jouvence could display a similar function (increasing healthy lifespan) in human. Here, we report the characterization of the human snoRNA-jouvence, which was not yet annotated in the genome. We show, both in stably cancerous cell lines and in primary cells, that its overexpression stimulates the cell proliferation. In contrast, its knockdown, by siRNA leads to an opposite phenotype, a decrease in cell proliferation. Transcriptomic analysis reveals that overexpression of jouvence leads to a dedifferentiation signature of the cells, a cellular effect comparable to rejuvenation. Inversely, the knockdown of jouvence leads to a decrease of genes involved in ribosomes biogenesis and spliceosome in agreement with the canonical role of a H/ACA box snoRNA. In this context, jouvence could represent a now tool to fight against the deleterious effect of aging, as well as a new target in cancer therapy.

scholarly journals Immunopurified Small Nucleolar Ribonucleoprotein Particles Pseudouridylate rRNA Independently of Their Association with Phosphorylated Nopp140

2002 ◽  
Vol 22 (24) ◽  
pp. 8457-8466 ◽  
Author(s):  
Chen Wang ◽  
Charles C. Query ◽  
U. Thomas Meier
Keyword(s):  
Cajal Body ◽  
Small Nucleolar Rnas ◽  
Ribonucleoprotein Particle ◽  
Vitro Assay ◽  
Body Protein ◽  
Core Proteins ◽  
Layer Chromatography ◽  
Nucleolar Rnas

ABSTRACT The isomerization of up to 100 uridines to pseudouridines (Ψs) in eukaryotic rRNA is guided by a similar number of box H/ACA small nucleolar RNAs (snoRNAs), each forming a unique small nucleolar ribonucleoprotein particle (snoRNP) with the same four core proteins, NAP57 (also known as dyskerin or Cbf5p), GAR1, NHP2, and NOP10. Additionally, the nucleolar and Cajal body protein Nopp140 (Srp40p) associates with the snoRNPs. To understand the role of these factors in pseudouridylation, we established an in vitro assay system. Short site-specifically 32P-labeled rRNA substrates were incubated with subcellular fractions, and the conversion of uridine to Ψ was monitored by thin-layer chromatography after digestion to single nucleotides. Immunopurified box H/ACA core particles were sufficient for the reaction. SnoRNPs associated quantitatively and reversibly with Nopp140. However, pseudouridylation activity was independent of Nopp140, consistent with a chaperoning role for this highly phosphorylated protein. Although up to 14 bp between the snoRNA and rRNA were required for the in vitro reaction, rRNA pseudouridylation and release occurred in the absence of ATP and magnesium. These data suggest that substrate release takes place without RNA helicase activity but may be aided by the snoRNP core proteins.

scholarly journals Identification of a Novel Element Required for Processing of Intron-Encoded Box C/D Small Nucleolar RNAs inSaccharomyces cerevisiae

2000 ◽  
Vol 20 (4) ◽  
pp. 1311-1320 ◽  
Author(s):  
Tommaso Villa ◽  
Francesca Ceradini ◽  
Irene Bozzoni
Keyword(s):  
Comparative Analysis ◽  
Early Recognition ◽  
Small Nucleolar Rnas ◽  
Core Motif ◽  
Complementary Sequences ◽  
Transcriptional Units ◽  
Specific Factors ◽  
Conserved Core ◽  
Nucleolar Rnas

ABSTRACT Processing of intron-encoded box C/D small nucleolar RNAs (snoRNAs) in metazoans through both the splicing-dependent and -independent pathways requires the conserved core motif formed by boxes C and D and the adjoining 5′-3′-terminal stem. By comparative analysis, we found that five out of six intron-encoded box C/D snoRNAs in yeast do not possess a canonical terminal stem. Instead, complementary regions within the flanking host intron sequences have been identified in all these cases. Here we show that these sequences are essential for processing of U18 and snR38 snoRNAs and that they compensate for the lack of a canonical terminal stem. We also show that the Rnt1p endonuclease, previously shown to be required for the processing of many snoRNAs encoded by monocistronic or polycistronic transcriptional units, is not required for U18 processing. Our results suggest a role of the complementary sequences in the early recognition of intronic snoRNA substrates and point out the importance of base pairing in favoring the communication between boxes C and D at the level of pre-snoRNA molecules for efficient assembly with snoRNP-specific factors.

scholarly journals NOP10 predicts lung cancer prognosis and its associated small nucleolar RNAs drive proliferation and migration

Oncogene ◽  
2020 ◽  
Author(s):  
Chunhong Cui ◽  
Yi Liu ◽  
Dennis Gerloff ◽  
Christian Rohde ◽  
Cornelius Pauli ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Colony Formation ◽  
Core Protein ◽  
Therapeutic Targets ◽  
Primary Lung Cancer ◽  
Cancer Prognosis ◽  
Migration And Invasion ◽  
Small Nucleolar Rnas ◽  
Nucleolar Rnas

AbstractNon-small cell lung cancer (NSCLC) is the leading cause of cancer death worldwide underlining the urgent need for new biomarkers and therapeutic targets for this disease. Long noncoding RNAs are critical players in NSCLC but the role of small RNA species is not well understood. In the present study, we investigated the role of H/ACA box small nucleolar RNAs (snoRNAs) and snoRNA-bound ribonucleoproteins (snoRNPs) in the tumorigenesis of NSCLC. H/ACA box snoRNPs including the NOP10 core protein were highly expressed in NSCLC. High levels of either NOP10 mRNA or protein were associated with poor prognosis in NSCLC patients. Loss of NOP10 and subsequent reduction of H/ACA box snoRNAs and rRNA pseudouridylation inhibited lung cancer cell growth, colony formation, migration, and invasion. A focused CRISPR/Cas9 snoRNA knockout screen revealed that genomic deletion of SNORA65, SNORA7A, and SNORA7B reduced proliferation of lung cancer cells. In line, high levels of SNORA65, SNORA7A, and SNORA7B were observed in primary lung cancer specimens with associated changes in rRNA pseudouridylation. Knockdown of either SNORA65 or SNORA7A/B inhibited growth and colony formation of NSCLC cell lines. Our data indicate that specific H/ACA box snoRNAs and snoRNA-associated proteins such as NOP10 have an oncogenic role in NSCLC providing new potential biomarkers and therapeutic targets for the disease.

scholarly journals Regulatory Role of Small Nucleolar RNAs in Human Diseases

2015 ◽  
Vol 2015 ◽  
pp. 1-10 ◽  
Author(s):  
Grigory A. Stepanov ◽  
Julia A. Filippova ◽  
Andrey B. Komissarov ◽  
Elena V. Kuligina ◽  
Vladimir A. Richter ◽  
...  
Keyword(s):  
Gene Expression Regulation ◽  
Human Cells ◽  
Small Nucleolar Rnas ◽  
Posttranscriptional Modification ◽  
Cellular Processes ◽  
Promising Target ◽  
Regulatory Rnas ◽  
Nucleolar Rnas ◽  
Artificial Stress

Small nucleolar RNAs (snoRNAs) are appreciable players in gene expression regulation in human cells. The canonical function of box C/D and box H/ACA snoRNAs is posttranscriptional modification of ribosomal RNAs (rRNAs), namely, 2′-O-methylation and pseudouridylation, respectively. A series of independent studies demonstrated that snoRNAs, as well as other noncoding RNAs, serve as the source of various short regulatory RNAs. Some snoRNAs and their fragments can also participate in the regulation of alternative splicing and posttranscriptional modification of mRNA. Alterations in snoRNA expression in human cells can affect numerous vital cellular processes. SnoRNA level in human cells, blood serum, and plasma presents a promising target for diagnostics and treatment of human pathologies. Here we discuss the relation between snoRNAs and oncological, neurodegenerative, and viral diseases and also describe changes in snoRNA level in response to artificial stress and some drugs.

scholarly journals Role of the Box C/D Motif in Localization of Small Nucleolar RNAs to Coiled Bodies and Nucleoli

1999 ◽  
Vol 10 (7) ◽  
pp. 2131-2147 ◽  
Author(s):  
Aarthi Narayanan ◽  
Wayne Speckmann ◽  
Rebecca Terns ◽  
Michael P. Terns
Keyword(s):  
Large Family ◽  
Nucleolar Localization ◽  
Small Nucleolar Rnas ◽  
Cis Acting ◽  
Coiled Bodies ◽  
Sequence Elements ◽  
Intranuclear Transport ◽  
Necessary And Sufficient ◽  
Nucleolar Rnas

Small nucleolar RNAs (snoRNAs) are a large family of eukaryotic RNAs that function within the nucleolus in the biogenesis of ribosomes. One major class of snoRNAs is the box C/D snoRNAs named for their conserved box C and box D sequence elements. We have investigated the involvement of cis-acting sequences and intranuclear structures in the localization of box C/D snoRNAs to the nucleolus by assaying the intranuclear distribution of fluorescently labeled U3, U8, and U14 snoRNAs injected into Xenopus oocyte nuclei. Analysis of an extensive panel of U3 RNA variants showed that the box C/D motif, comprised of box C′, box D, and the 3′ terminal stem of U3, is necessary and sufficient for the nucleolar localization of U3 snoRNA. Disruption of the elements of the box C/D motif of U8 and U14 snoRNAs also prevented nucleolar localization, indicating that all box C/D snoRNAs use a common nucleolar-targeting mechanism. Finally, we found that wild-type box C/D snoRNAs transiently associate with coiled bodies before they localize to nucleoli and that variant RNAs that lack an intact box C/D motif are detained within coiled bodies. These results suggest that coiled bodies play a role in the biogenesis and/or intranuclear transport of box C/D snoRNAs.

scholarly journals 01-P010 Prader–Willi Syndrome and small nucleolar RNAs

2009 ◽  
Vol 126 ◽  
pp. S53-S54
Author(s):  
Carolin Purmann ◽  
Giles Yeo ◽  
Sadaf Farooqi ◽  
Stephen O’Rahilly
Keyword(s):  
Prader Willi Syndrome ◽  
Small Nucleolar Rnas ◽  
Nucleolar Rnas
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