title: The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C.
abstract: The Prader-Willi syndrome is a congenital disease that is caused by the loss of paternal gene expression from a maternally imprinted region on chromosome 15. 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. We found that HBII-52 regulates alternative splicing of 5-HT(2C)R by binding to a silencing element in exon Vb. Prader-Willi syndrome patients do not express HBII-52. They have different 5-HT(2C)R messenger RNA (mRNA) isoforms than healthy individuals. Our results show that a snoRNA regulates the processing of an mRNA expressed from a gene located on a different chromosome, and the results indicate that a defect in pre-mRNA processing contributes to the Prader-Willi syndrome.
authors.affiliation: Institut für Biochemie, Emil-Fischer-Zentrum, Friedrich-Alexander Universität Erlangen-Nürnberg, Fahrstrasse 17, 91054 Erlangen, Germany.
authors.forename: Shivendra
authors.initials: S
authors.lastname: Kishore
authors.forename: Stefan
authors.initials: S
authors.lastname: Stamm
mesh_terms: D017398:Alternative Splicing; D000818:Animals; D002460:Cell Line; D002884:Chromosomes, Human, Pair 15; D041321:Chromosomes, Human, X; D017124:Conserved Sequence; D005091:Exons; D006801:Humans; D051379:Mice; D011218:Prader-Willi Syndrome / Q000235:genetics*; D020033:Protein Isoforms / Q000235:genetics; D020537:RNA, Small Nucleolar / Q000502:physiology*; D051381:Rats; D044405:Receptor, Serotonin, 5-HT2C / Q000235:genetics*
chemical_list: D020033:Protein Isoforms; D020537:RNA, Small Nucleolar; D044405:Receptor, Serotonin, 5-HT2C