The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C
S Kishore, S Stamm - science, 2006 - science.org
S Kishore, S Stamm
science, 2006•science.orgThe 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-HT2CR. We found that HBII-
52 regulates alternative splicing of 5-HT2CR by binding to a silencing element in exon Vb.
Prader-Willi syndrome patients do not express HBII-52. They have different 5-HT2CR …
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-HT2CR. We found that HBII-
52 regulates alternative splicing of 5-HT2CR by binding to a silencing element in exon Vb.
Prader-Willi syndrome patients do not express HBII-52. They have different 5-HT2CR …
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-HT2CR. We found that HBII-52 regulates alternative splicing of 5-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.
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