PT  - JOURNAL ARTICLE
ED  - , 
TI  - Alternative Splicing and Prader-Willi Syndrome
AID  - 10.1126/stke.3182006tw485
DP  - 2006 Jan 17
TA  - Science's STKE
PG  - tw485--tw485
VI  - 2006
IP  - 318
4099  - http://stke.sciencemag.org/content/2006/318/tw485.short
4100  - http://stke.sciencemag.org/content/2006/318/tw485.full
SO  - Sci. STKE2006 Jan 17; 2006
AB  - The chromosomal region 15q11-q13 contains 47 copies of a brain-specific small nucleolar RNA (snoRNA), HBII-52. Kishore et al. now show that this snoRNA regulates alternative splicing of a specific pre-messenger RNA encoding a serotonin receptor by masking an exonic silencer. This snoRNA is not expressed in patients suffering from Prader-Willi syndrome and causes patients to express different isoforms of this serotonin receptor. Previously, it has been unclear how the loss of the Prader-Willi-imprinted region causes the disease, because most of its genes do not encode protein. S. Kishore, S. Stamm, The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C. Science 311, 230-232 (2006). [Abstract] [Full Text]