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 S-HT2CR. We found that HBII-52 regulates alternative splicing of S-HT2CR by binding to a silencing element in exon Vb. Prader-Willi syndrome patients do not express HBII-52. They have different 5-HT2CR 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.
Original language | English |
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Pages (from-to) | 230-232 |
Number of pages | 3 |
Journal | Science |
Volume | 311 |
Issue number | 5758 |
DOIs | |
State | Published - Jan 13 2006 |
ASJC Scopus subject areas
- General