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Gene Review:

SNORD115-1 - small nucleolar RNA, C/D box 115-1

Homo sapiens

Synonyms: HBII-52-1, RNHBII52

Runte, M. et al., Cavaillé, J. et al., Kishore, S. et al.

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Disease relevance of SNORD115-1

Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome [1].

High impact information on SNORD115-1

Two of the human RNA orthologues (HBII-52 and HBI-36) share this expression pattern, and the remainder, HBII-13 and HBII-85, are prevalently expressed in that tissue [2].
In mouse the homologue of HBII-52 is processed from intronic portions of the tandem repeats [2].
To examine the role of the HBII-52 snoRNA genes, we have reinvestigated an AS family with a submicroscopic deletion spanning UBE3A and flanking sequences [1].
Since the complete loss of the HBII-52 genes in family members who carry the deletion on their paternal chromosome is not associated with an obvious clinical phenotype, we conclude that HBII-52 snoRNA genes do not play a major role in PWS [1].
Prader-Willi syndrome patients do not express HBII-52 [3].

Biological context of SNORD115-1

We found that HBII-52 regulates alternative splicing of 5-HT(2C)R by binding to a silencing element in exon Vb [3].

Associations of SNORD115-1 with chemical compounds

This region contains a small nucleolar RNA (snoRNA), HBII-52, that exhibits sequence complementarity to the alternatively spliced exon Vb of the serotonin receptor 5-HT(2C)R [3].

Other interactions of SNORD115-1

Unlike other C/D box snoRNAs, two snoRNAs, HBII-52 and HBII-85, are encoded in a tandemly repeated array of 47 or 24 units, respectively [2].

References

Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome. Runte, M., Varon, R., Horn, D., Horsthemke, B., Buiting, K. Hum. Genet. (2005) [Pubmed]
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]
The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C. Kishore, S., Stamm, S. Science (2006) [Pubmed]

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