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| Result of your query |
| HBII-52-38 | |||||||
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| snoid : SR0000199 | ||||||
| Length : 82 | ||||||
| Abstract : Homo sapiens C/D box snoRNA HBII-52-38: this snoRNA was first cloned in the mouse (MBII-52) by CavaillŽ et al. (2000), and found to be expressed in all regions of the brain, except for the choroids plexus. HBII-52 is also brain-specific (CavaillŽ et al, 2002). Due to cross-hybridisation in Northern blot analysis, it could not be assessed if all predicted snoRNAs in this cluster are indeed expressed. As HBII-85 and HBII-13, HBI-52 was not expressed in the brain of a patient with a paternal 15q11-q13 deletion (Prader-Willi syndrome), but was normally expressed when the deletion was maternally inherited (Angelman syndrome). Genomic sequencing revealed that 48 closely related copies HBII-52 are encoded in introns of the large (460kb), paternally expressed, transcription unit (SNURF-SNRNP-UBE3A AS), that is antisense to the maternally expressed UBE3A gene (CavaillŽ et al., 2000, Runte et al., 2001). Among these copies, 6 (# 24, 27, 28, 45, 46 and 47) have mutated C and/or D boxes, and are probably not functional. In the new nomenclature, HBII-52 snoRNAs were numbered 1-48 following their chromosomal order, but entries like HBII-52-24 (SNORD115-24) were left unassigned. Note however that HBII-52-7 and -25 have a non-consensus C box, but were maintained in the list. The HBII-52 snoRNAs are not predicted to guide to 2'O-methylation of an rRNA or snRNA. However, most of them (HBII-52-1, -4 , -5, -6, -8 to -16, -21, -22, -26, -29, -30, -31, -33 to -36, and -38 to -44) present, upstream of the D box, a perfect 17-18 nt complementarity with a portion of the serotonin receptor 5HT-2C mRNA (CavaillŽ et al., 2000). The nucleotide predicted to be methylated is known to be subjected to A/I editing. The MBII-52 inhibits the ADAR2-mediated editing of a 5HT-2C minigene transcribed in the nucleolus from a RNA polI promoter (Vitali et al., 2005). Moreover, HBII-52 regulates the alternative splicing of the natural 5HT-2C pre-mRNA (Kishore and Stamm, 2006). The same transcription unit hosts HBII-13, HBII-436, HBII-437 and HBII-438A/B, and 29 copies of HBII-85. Recent studies suggest that the lack of HBII-85, but not HBII-52, is critical in Prader-Willi syndrome (Runte et al., 2005; Ding et al., 2005). | ||||||
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| GenBank accession number : NR_003353.1 | ||||||
| Host gene : SNURF-SNRNP-UBE3A antisense | ||||||
| Click here to see the position on the UCSC Genome Browser | ||||||
| Target RNA : serotonin receptor 5HT-2C mRNA? | ||||||
| sno/scaRNAs with same target serotonin receptor 5HT-2C mRNA? : HBII-52-33 HBII-52-31 HBII-52-22 HBII-52-21 HBII-52-1 HBII-52-4 HBII-52-5 HBII-52-6 HBII-52-8 HBII-52-9 HBII-52-10 HBII-52-11 HBII-52-12 HBII-52-13 HBII-52-14 HBII-52-15 HBII-52-16 HBII-52-30 HBII-52-29 HBII-52-26 HBII-52-34 HBII-52-35 HBII-52-36 HBII-52-39 HBII-52-40 HBII-52-41 HBII-52-42 HBII-52-43 HBII-52-44 | ||||||
| References : - Runte, M., Huttenhofer, A., Gross, S., Kiefmann, M., Horsthemke, B., and Buiting, K. (2001). The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A. Hum Mol Genet, 10, 2687-2700. - Cavaille, J., Buiting, K., Kiefmann, M., Lalande, M., Brannan, C. I., Horsthemke, B., Bachellerie, J. P., Brosius, J., and Huttenhofer, A. (2000). Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization. Proc Natl Acad Sci U S A, 97, 14311-14316. - Cavaille, J., Seitz, H., Paulsen, M., Ferguson-Smith, A. C., and Bachellerie, J. P. (2002). Identification of tandemly-repeated C/D snoRNA genes at the imprinted human 14q32 domain reminiscent of those at the Prader-Willi/Angelman syndrome region. Hum Mol Genet, 11, 1527-1538. - Kishore S. and Stamm S. (2006) The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C. Science 311: 230-232. - Vitali P, Basyuk E, Le Meur E, Bertrand E, Muscatelli F, Cavaille J, Huttenhofer A. (2005) ADAR2-mediated editing of RNA substrates in the nucleolus is inhibited by C/D small nucleolar RNAs. J Cell Bio 169:745-753. - Ding F, Prints Y, Dahr MS, Johnson DK, Garnacho-Montero C, et al. (2005) Lack of Pwcr1/MBII-85 snoRNA is critical for neonatal lethaly in Prader-Willi syndrome mouse models. Mamm Genome 16:424-431. - Runte M, Varon R, Horn D, Horsthemke B, Buiting K. (2005) Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome. Hum Genet. 116:228-230. | ||||||
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