The snoRNA HBII-52 Regulates Alternative Splicing of the Serotonin Receptor 2C

@article{Kishore2006TheSH,
  title={The snoRNA HBII-52 Regulates Alternative Splicing of the Serotonin Receptor 2C},
  author={Shivendra Kishore and Stefan Stamm},
  journal={Science},
  year={2006},
  volume={311},
  pages={230 - 232}
}
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… 
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654 Citations

Role of Alternative Splicing of the 5-HT 2C Receptor in the Prader–Willi Syndrome

The regulation of alternative splicing of exon Vb of the 5-HT2C receptor appears to be altered in the Prader–Willi syndrome (PWS), and the exon encodes the second intracellular loop that is important for signaling.

Regulation of alternative splicing by snoRNAs.

The SNURF-SNRPN locus located on chromosome 15 is maternally imprinted and generates a large transcript containing at least 148 exons, which could contribute to the disease.

Differential regulation of non-protein coding RNAs from Prader-Willi Syndrome locus

Prader-Willi Syndrome (PWS) is a neurogenetic disorder caused by the deletion of imprinted genes on the paternally inherited human chromosome 15q11-q13. This locus harbours a long non-protein-coding…

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

A microdeletion of the HBII-85 snoRNAs in a child with PWS provides, in combination with previous data, effectively conclusive evidence that deficiency of HBOs causes the key characteristics of the PWS phenotype, although some atypical features suggest that other genes in the region may make more subtle phenotypic contributions.

Loss of the imprinted snoRNA mbii-52 leads to increased 5htr2c pre-RNA editing and altered 5HT2CR-mediated behaviour.

The physiological consequences of altered RNA editing of 5htr2c linked to mbii-52 loss that may underlie specific aspects of the complex PWS phenotype are illustrated and point to an important functional role for this imprinted snoRNA.

Role of Alternative Splicing of the Serotonin Receptor 2 C in the Prader – Willi Syndrome

The 5-HT 2C receptor pre-messenger ribonucleic acid (pre-mRNA) undergoes both editing and alternative pre-mRNA splicing. Both events occur in the cell nucleous and are summarized below. RNA editing…

Alternative Splicing and Extensive RNA Editing of Human TPH2 Transcripts

Results strongly suggest a complex fine-tuning of central nervous system 5-HT biosynthesis by TPH2 alternative splicing and RNA editing, involved in the etiology of psychiatric diseases, such as suicidal behaviour.

The posterior pituitary expresses the serotonin receptor 2C

Molecular evolution of the HBII-52 snoRNA cluster.

TPH2 polymorphisms and expression in Prader-Willi syndrome subjects with differing genetic subtypes

The tryptophan hydroxylase gene (TPH2), the rate-limiting enzyme in the production of brain serotonin, is investigated by analyzing three different TPH2 gene polymorphisms, transcript expression, and correlation with PWS genetic subtype.
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References

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