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Role of Alternative Splicing of the 5-HT2C Receptor in the Prader–Willi Syndrome

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5-HT2C Receptors in the Pathophysiology of CNS Disease

Part of the book series: The Receptors ((REC,volume 22))

Abstract

The 5-HT2C receptor (5-HT2CR) belongs to the family of seven transmembrane-containing G-protein-coupled receptors (GPCRs) and is located on the human X chromosome band q24. The pre-mRNA generated from this gene undergoes extensive RNA processing. Due to RNA editing and alternative splicing, the gene could generate at least 288 different isoforms. Under physiological conditions, the RNA processing is tightly regulated. Deviations from the normal processing patterns that disturb the balance between the mRNA isoforms lead to diseases. Here we describe the regulation of alternative splicing of exon Vb of the 5-HT2C receptor. This exon encodes the second intracellular loop that is important for signaling. The exon is regulated by a splicing silencer that can be modified by RNA editing. The inclusion of the nonedited exon Vb is promoted by a small nucleolar RNA (snoRNA), HBII-52/SNORD115 and its processed isoforms. The regulation of this exon appears to be altered in the Prader–Willi syndrome (PWS).

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Acknowledgments

The laboratory is supported by the Deutsche Forschungsgemeinschaft (DFG), the European Union (EURASNET), and the NIH.

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Authors and Affiliations

  1. Department of Molecular and Cellular Biochemistry, University of Kentucky, College of Medicine, B283 Biomedical Biological Sciences Research Building, 741 South Limestone, Lexington, KY, 40536-0509, USA

    Stefan Stamm

Authors
  1. Shivendra Kishore
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  2. Stefan Stamm
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Correspondence to Stefan Stamm .

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Editors and Affiliations

  1. , Department of Physiology and Biochemistr, University of Malta, Msida, Malta, MSD 2080, Italy

    Giuseppe Di Giovanni

  2. Centro di Ricerche Farmacologiche e, Biomediche, Consorzio Mario Negri Sud, Via Nazionale 8, Santa Maria Imbaro, 66030, Chieti, Italy

    Ennio Esposito

  3. Centro di Ricerche Farmacologiche e, Biomediche, Consorzio Mario Negri Sud, Via Nazionale 8, Santa Maria Imbaro, 66030, Chieti, Italy

    Vincenzo Di Matteo

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Kishore, S., Stamm, S. (2011). Role of Alternative Splicing of the 5-HT2C Receptor in the Prader–Willi Syndrome. In: Di Giovanni, G., Esposito, E., Di Matteo, V. (eds) 5-HT2C Receptors in the Pathophysiology of CNS Disease. The Receptors, vol 22. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-60761-941-3_21

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