title: Regulation of alternative splicing by snoRNAs.
abstract: The SNURF-SNRPN locus located on chromosome 15 is maternally imprinted and generates a large transcript containing at least 148 exons. Loss of the paternal allele causes Prader-Willi syndrome (PWS). The 3' end of the transcript harbors several evolutionarily conserved C/D box small nucleolar RNAs (snoRNAs) that are tissue-specifically expressed. With the exception of 47 copies of HBII-52 snoRNAs, none of the snoRNAs exhibit complementarity to known RNAs. Due to an 18-nucleotide sequence complementarity, HBII-52 can bind to the alternatively spliced exon Vb of the serotonin receptor 2C pre-mRNA, where it masks a splicing silencer, which results in alternative exon usage. This silencer can also be destroyed by RNA editing, which changes the amino acid sequence and appears to be independent of HBII-52. Lack of HBII-52 expression in individuals with PWS causes most likely a lack of the high-efficacy serotonin receptor, which could contribute to the disease. It is therefore possible that snoRNAs could act as versatile modulators of gene expression by modulating alternative splicing.
authors: University of Erlangen, Institute for Biochemistry, Erlangen, Germany.
authors: S
authors: S
authors: Kishore
authors: S
authors: S
authors: Stamm
mesh_terms: D017398:Alternative Splicing; D000818:Animals; D001483:Base Sequence; D005091:Exons; D005260:Female; D015870:Gene Expression; D015894:Genome, Human; D006801:Humans; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics / Q000378:metabolism; D011218:Prader-Willi Syndrome / Q000235:genetics / Q000378:metabolism; D020537:RNA, Small Nucleolar / Q000235:genetics* / Q000378:metabolism*; D044405:Receptor, Serotonin, 5-HT2C / Q000235:genetics / Q000378:metabolism
chemical_list: D009687:Nuclear Proteins; D020537:RNA, Small Nucleolar; D044405:Receptor, Serotonin, 5-HT2C; C445239:SNURF protein, human