The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C

Science. 2006 Jan 13;311(5758):230-2. doi: 10.1126/science.1118265. Epub 2005 Dec 15.


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alternative Splicing*
  • Animals
  • Cell Line
  • Chromosomes, Human, Pair 15
  • Chromosomes, Human, X
  • Conserved Sequence
  • Exons
  • Humans
  • Mice
  • Prader-Willi Syndrome / genetics*
  • Protein Isoforms / genetics
  • RNA, Small Nucleolar / physiology*
  • Rats
  • Receptor, Serotonin, 5-HT2C / genetics*


  • Protein Isoforms
  • RNA, Small Nucleolar
  • Receptor, Serotonin, 5-HT2C