{"database":"biostudies-other","file_versions":[],"scores":null,"additional":{"submitter":["Kishore S"],"funding":["NCRR NIH HHS","NIGMS NIH HHS"],"pagination":["1153-64"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC2838533"],"abstract":["The loss of HBII-52 and related C/D box small nucleolar RNA (snoRNA) expression units have been implicated as a cause for the Prader-Willi syndrome (PWS). We recently found that the C/D box snoRNA HBII-52 changes the alternative splicing of the serotonin receptor 2C pre-mRNA, which is different from the traditional C/D box snoRNA function in non-mRNA methylation. Using bioinformatic predictions and experimental verification, we identified five pre-mRNAs (DPM2, TAF1, RALGPS1, PBRM1 and CRHR1) containing alternative exons that are regulated by MBII-52, the mouse homolog of HBII-52. Analysis of a single member of the MBII-52 cluster of snoRNAs by RNase protection and northern blot analysis shows that the MBII-52 expressing unit generates shorter RNAs that originate from the full-length MBII-52 snoRNA through additional processing steps. These novel RNAs associate with hnRNPs and not with proteins associated with canonical C/D box snoRNAs. Our data indicate that not a traditional C/D box snoRNA MBII-52, but a processed version lacking the snoRNA stem is the predominant MBII-52 RNA missing in PWS. This processed snoRNA functions in alternative splice-site selection. Its substitution could be a therapeutic principle for PWS."],"repository":["biostudies-other"],"data_source":["Europe PMC"],"omics_type":["Unknown"],"volume":["19(7)"],"journal":["Human molecular genetics"],"pmcid":["PMC2838533"],"funding_grant_id":["R01 GM083187-01A2","GM083187","R01 GM083187","P20 RR020171"],"pubmed_authors":["Stamm S","Stefan M","Zhang Z","Balwierz PJ","Khanna A","Nicholls RD","Hui J","Kishore S","Beach C","Zavolan M"],"additional_accession":[]},"is_claimable":false,"name":"The snoRNA MBII-52 (SNORD 115) is processed into smaller RNAs and regulates alternative splicing.","description":"The loss of HBII-52 and related C/D box small nucleolar RNA (snoRNA) expression units have been implicated as a cause for the Prader-Willi syndrome (PWS). We recently found that the C/D box snoRNA HBII-52 changes the alternative splicing of the serotonin receptor 2C pre-mRNA, which is different from the traditional C/D box snoRNA function in non-mRNA methylation. Using bioinformatic predictions and experimental verification, we identified five pre-mRNAs (DPM2, TAF1, RALGPS1, PBRM1 and CRHR1) containing alternative exons that are regulated by MBII-52, the mouse homolog of HBII-52. Analysis of a single member of the MBII-52 cluster of snoRNAs by RNase protection and northern blot analysis shows that the MBII-52 expressing unit generates shorter RNAs that originate from the full-length MBII-52 snoRNA through additional processing steps. These novel RNAs associate with hnRNPs and not with proteins associated with canonical C/D box snoRNAs. Our data indicate that not a traditional C/D box snoRNA MBII-52, but a processed version lacking the snoRNA stem is the predominant MBII-52 RNA missing in PWS. This processed snoRNA functions in alternative splice-site selection. Its substitution could be a therapeutic principle for PWS.","dates":{"release":"2010-01-01T00:00:00Z","publication":"2010 Apr","modification":"2019-03-27T00:29:23Z","creation":"2019-03-27T00:29:23Z"},"accession":"S-EPMC2838533","cross_references":{"pubmed":["20053671"],"doi":["10.1093/hmg/ddp585 "]}}