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Gene Review

SNORD14D  -  small nucleolar RNA, C/D box 14D

Homo sapiens

 
 
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Disease relevance of LOC85390

 

High impact information on LOC85390

  • We find that primary fibroblasts and lymphoblasts from DKC-affected males are not detectably deficient in conventional H/ACA small nucleolar RNA accumulation or function; however, DKC cells have a lower level of telomerase RNA, produce lower levels of telomerase activity and have shorter telomeres than matched normal cells [5].
  • This takes place in the nucleolus and involves a family of small nucleolar RNAs (snoRNAs) with long regions (10-21 nucleotides) complementary to rRNA sequences spanning the methylation site--a complementary snoRNA is required for methylation at a specific site [6].
  • Progress in understanding how snoRNA sequences are stored within genomes, liberated from precursor molecules and targeted to the nucleolus has begun to elucidate each step in the biogenesis of these critical contributors to ribosome formation [7].
  • A small nucleolar RNA is processed from an intron of the human gene encoding ribosomal protein S3 [8].
  • A human small nucleolar RNA, identified previously in HeLa cells by anti-fibrillarin autoantibody precipitation and termed RNA X, has been characterized [8].
 

Biological context of LOC85390

  • These introns contain only single snoRNA genes and their processing involves exonucleolytic release of the snoRNA from debranched intron lariats [9].
  • The plant snoRNA gene clusters are transcribed as a polycistronic pre-snoRNA transcript from an upstream promoter [9].
  • A small nucleolar RNA requirement for site-specific ribose methylation of rRNA in Xenopus [10].
  • In eukaryotes, formation of short duplexes between the U3 small nucleolar RNA (snoRNA) and the precursor rRNA (pre-rRNA) at multiple sites is a prerequisite for three endonucleolytic cleavages that initiate small subunit biogenesis by releasing the 18S rRNA precursor from the pre-rRNA [11].
  • U17/snR30 is a ubiquitous snoRNA with two conserved sequence motifs essential for 18S rRNA production [12].
 

Anatomical context of LOC85390

  • In vitro synthesized plant U3 snoRNA, with pppA or pppG as its 5' end, was converted to methyl-pppA/G cap structure in vitro when incubated with extracts prepared from wheat germ or HeLa cells [13].
  • U3 small nucleolar RNA (snoRNA) is an abundant small RNA involved in the processing of pre-ribosomal RNA of eukaryotic cells [13].
  • U3 snoRNA is also stored in the coiled body of interphase cells and in the nucleolar remnants and prenucleolar bodies of mitotic cells, and there may be some similarity in the binding sites for stored U3 snoRNA in the DFC and in these structures [14].
  • It is novel to find that the snoRNA gene is located at the breakpoint of chromosomal translocation t(3;6)(q27;q15) involved in human B-cell lymphoma [15].
  • Expression of the human homologue of the small nucleolar RNA-binding protein NHP2 gene during monocytic differentiation of U937 cells [16].
 

Associations of LOC85390 with chemical compounds

  • Instead, brain-specific C/D box snoRNA HBII-52 has an 18-nt phylogenetically conserved complementarity to a critical segment of serotonin 2C receptor mRNA, pointing to a potential role in the processing of this mRNA [17].
  • Nucleotides 1-45 of tomato U3 snoRNA, which are capable of forming a stem-loop structure, are sufficient to direct the methyl cap formation in vitro [13].
  • These data show that the same U3 snoRNA contains different cap structures in different species and suggest that the kind of cap structure that an uridylic acid-rich small nuclear RNA contains is dependent on the RNA polymerase responsible for its synthesis [13].
  • The different size with intron 1 is due to the middle region at the first intron of cardiotoxin 4 and cobrotoxin genes, which encoded small nucleolar RNA (snoRNA), being absent in that of erabutoxin c gene [18].
  • Computer identification of snoRNA genes using a Mammalian Orthologous Intron Database [19].
 

Other interactions of LOC85390

  • Characterization of the intron-encoded U19 RNA, a new mammalian small nucleolar RNA that is not associated with fibrillarin [20].
  • Following a search of sequence data bases for intronic sequences exhibiting structural features typical of snoRNAs, we have positively identified by Northern assays and sequence analysis another intron-encoded snoRNA, termed U21 [21].
 

Analytical, diagnostic and therapeutic context of LOC85390

  • On a multispecies Southern blot, hybridization to an HMCR probe encoding the putative snoRNA is limited to mammals [22].
  • Immunoprecipitation experiments using whole cell extracts of HeLa cells and cultured neurons revealed that abSMN coprecipitated small amounts of the U3 small nucleolar RNA (snoRNA) previously shown to be associated with fibrillarin in vivo [23].
  • Therefore, in this work, we set up two PCR reactions, TcH2AF/R and TrFR2, to distinguish T. cruzi from T. rangeli in mixed infections of vectors based on amplification of the histone H2A/SIRE and the small nucleolar RNA Cl1 genes, respectively [24].
  • Chromatin immunoprecipitation experiments show that polyadenylation factors and Rat1 localize to snoRNA genes, but mutations that disrupt poly(A) site cleavage or Rat1 activity do not lead to termination defects at these genes [25].
  • The presence of U3 snoRNA, as shown by in situ hybridization in nuclear bodies from plant material, is also evidence that these structures are coiled bodies [26].

References

  1. Large-scale evaluation of imprinting status in the Prader-Willi syndrome region: an imprinted direct repeat cluster resembling small nucleolar RNA genes. Meguro, M., Mitsuya, K., Nomura, N., Kohda, M., Kashiwagi, A., Nishigaki, R., Yoshioka, H., Nakao, M., Oishi, M., Oshimura, M. Hum. Mol. Genet. (2001) [Pubmed]
  2. Identification of tandemly-repeated C/D snoRNA genes at the imprinted human 14q32 domain reminiscent of those at the Prader-Willi/Angelman syndrome region. Cavaillé, J., Seitz, H., Paulsen, M., Ferguson-Smith, A.C., Bachellerie, J.P. Hum. Mol. Genet. (2002) [Pubmed]
  3. Direct interaction of the spinal muscular atrophy disease protein SMN with the small nucleolar RNA-associated protein fibrillarin. Jones, K.W., Gorzynski, K., Hales, C.M., Fischer, U., Badbanchi, F., Terns, R.M., Terns, M.P. J. Biol. Chem. (2001) [Pubmed]
  4. Colocalization and interaction of the porcine arterivirus nucleocapsid protein with the small nucleolar RNA-associated protein fibrillarin. Yoo, D., Wootton, S.K., Li, G., Song, C., Rowland, R.R. J. Virol. (2003) [Pubmed]
  5. A telomerase component is defective in the human disease dyskeratosis congenita. Mitchell, J.R., Wood, E., Collins, K. Nature (1999) [Pubmed]
  6. Targeted ribose methylation of RNA in vivo directed by tailored antisense RNA guides. Cavaillé, J., Nicoloso, M., Bachellerie, J.P. Nature (1996) [Pubmed]
  7. Guided tours: from precursor snoRNA to functional snoRNP. Weinstein, L.B., Steitz, J.A. Curr. Opin. Cell Biol. (1999) [Pubmed]
  8. A small nucleolar RNA is processed from an intron of the human gene encoding ribosomal protein S3. Tycowski, K.T., Shu, M.D., Steitz, J.A. Genes Dev. (1993) [Pubmed]
  9. Clusters of multiple different small nucleolar RNA genes in plants are expressed as and processed from polycistronic pre-snoRNAs. Leader, D.J., Clark, G.P., Watters, J., Beven, A.F., Shaw, P.J., Brown, J.W. EMBO J. (1997) [Pubmed]
  10. A small nucleolar RNA requirement for site-specific ribose methylation of rRNA in Xenopus. Tycowski, K.T., Smith, C.M., Shu, M.D., Steitz, J.A. Proc. Natl. Acad. Sci. U.S.A. (1996) [Pubmed]
  11. Imp3p and Imp4p mediate formation of essential U3-precursor rRNA (pre-rRNA) duplexes, possibly to recruit the small subunit processome to the pre-rRNA. Gérczei, T., Correll, C.C. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  12. U17/snR30 is a ubiquitous snoRNA with two conserved sequence motifs essential for 18S rRNA production. Atzorn, V., Fragapane, P., Kiss, T. Mol. Cell. Biol. (2004) [Pubmed]
  13. Cap structure of U3 small nucleolar RNA in animal and plant cells is different. gamma-Monomethyl phosphate cap structure in plant RNA. Shimba, S., Buckley, B., Reddy, R., Kiss, T., Filipowicz, W. J. Biol. Chem. (1992) [Pubmed]
  14. U3 snoRNA may recycle through different compartments of the nucleolus. Gerbi, S.A., Borovjagin, A. Chromosoma (1997) [Pubmed]
  15. Intronic U50 small-nucleolar-RNA (snoRNA) host gene of no protein-coding potential is mapped at the chromosome breakpoint t(3;6)(q27;q15) of human B-cell lymphoma. Tanaka, R., Satoh, H., Moriyama, M., Satoh, K., Morishita, Y., Yoshida, S., Watanabe, T., Nakamura, Y., Mori, S. Genes Cells (2000) [Pubmed]
  16. Expression of the human homologue of the small nucleolar RNA-binding protein NHP2 gene during monocytic differentiation of U937 cells. Kang, H.S., Jung, H.M., Jun, d.o. .Y., Huh, T.L., Kim, Y.H. Biochim. Biophys. Acta (2002) [Pubmed]
  17. Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization. Cavaillé, J., Buiting, K., Kiefmann, M., Lalande, M., Brannan, C.I., Horsthemke, B., Bachellerie, J.P., Brosius, J., Hüttenhofer, A. Proc. Natl. Acad. Sci. U.S.A. (2000) [Pubmed]
  18. Genomic structures of cardiotoxin 4 and cobrotoxin from Naja naja atra (Taiwan cobra). Chang, L.S., Lin, J., Chou, Y.C., Hong, E. Biochem. Biophys. Res. Commun. (1997) [Pubmed]
  19. Computer identification of snoRNA genes using a Mammalian Orthologous Intron Database. Fedorov, A., Stombaugh, J., Harr, M.W., Yu, S., Nasalean, L., Shepelev, V. Nucleic Acids Res. (2005) [Pubmed]
  20. Characterization of the intron-encoded U19 RNA, a new mammalian small nucleolar RNA that is not associated with fibrillarin. Kiss, T., Bortolin, M.L., Filipowicz, W. Mol. Cell. Biol. (1996) [Pubmed]
  21. U21, a novel small nucleolar RNA with a 13 nt. complementarity to 28S rRNA, is encoded in an intron of ribosomal protein L5 gene in chicken and mammals. Qu, L.H., Nicoloso, M., Michot, B., Azum, M.C., Caizergues-Ferrer, M., Renalier, M.H., Bachellerie, J.P. Nucleic Acids Res. (1994) [Pubmed]
  22. Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which Is highly expressed in brain. de los Santos, T., Schweizer, J., Rees, C.A., Francke, U. Am. J. Hum. Genet. (2000) [Pubmed]
  23. Survival motor neuron protein in the nucleolus of mammalian neurons. Wehner, K.A., Ayala, L., Kim, Y., Young, P.J., Hosler, B.A., Lorson, C.L., Baserga, S.J., Francis, J.W. Brain Res. (2002) [Pubmed]
  24. Detection of Trypanosoma cruzi and Trypanosoma rangeli infection in triatomine vectors by amplification of the histone H2A/SIRE and the sno-RNA-C11 genes. Pavia, P.X., Vallejo, G.A., Montilla, M., Nicholls, R.S., Puerta, C.J. Rev. Inst. Med. Trop. Sao Paulo (2007) [Pubmed]
  25. Distinct Pathways for snoRNA and mRNA Termination. Kim, M., Vasiljeva, L., Rando, O.J., Zhelkovsky, A., Moore, C., Buratowski, S. Mol. Cell (2006) [Pubmed]
  26. Nucleolar evolution and coiled bodies during meiotic prophase in Olea europaea: differential localization of nucleic acids. Olmedilla, A., de Dios Alché, J., Rodríguez-García, M.I. Eur. J. Cell Biol. (1997) [Pubmed]
 
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