The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C |
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Authors: | Kishore Shivendra Stamm Stefan |
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Institution: | Institut für Biochemie, Emil-Fischer-Zentrum, Friedrich-Alexander Universit?t Erlangen-Nürnberg, Fahrstrasse 17, 91054 Erlangen, Germany. |
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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. |
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