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HUGO Gene Nomenclature Committee
HGNC Approved SymbolHGNC Approved Name
SNORD116-1small nucleolar RNA, C/D box 115-1
snoid : SR0000136
Length : 97
Abstract : Homo sapiens C/D box snoRNA HBII-85-1: this snoRNA was first characterized by Cavaille et al. (2000), de los Santos et al. (2000) and Meguro et al. (2001). It is highly expressed in the brain and uterus, and to a lesser extent in kidney, heart and lung (Cavaille 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-52 and HBII-13, HBI-85 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 27 closely related copies HBII-85 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 (Runte et al., 2001). The same transcription unit hosts HBII-13, HBII-436, HBII-437 and HBII-438A/B, and 47 copies of HBII-52). The snoRNAs of this cluster are not predicted to guide to 2'O-methylation of a rRNA or snRNA.
GenBank accession number : NR_003316
Host gene : SNURF-SNRNP-UBE3A antisense
Click here to see the position on the UCSC Genome Browser
Target RNA : unknown
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.
- Meguro, M., Mitsuya, K., Nomura, N., Kohda, M., Kashiwagi, A., Nishigaki, R., Yoshioka, H., Nakao, M., Oishi, M., and Oshimura, M. (2001). Large-scale evaluation of imprinting status in the Prader-Willi syndrome region: an imprinted direct repeat cluster resembling small nucleolar RNA genes. Hum Mol Genet, 10, 383-394.
- de los Santos, T., Schweizer, J., Rees, C. A., and Francke, U. (2000). 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. Am J Hum Genet, 67, 1067-1082.
- 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.
Sequence :
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