snoRNAs linked to Prader-Willi Syndrome

Small nucleolar RNAs (snoRNAs) have never before been implicated in alternative splicing. Stefan Stamm and Shivendra Kishore, of the Friedrich-Alexander University Institute for Biochemistry, suggest that HBII-52, a non-coding RNA located on chromosome 15 regulates alternative splicing of the serotonin receptor 2C located on the X chromosome.1 The snoRNA locus is maternally imprinted, and loss of paternal expression results in Prader-Willi Syndrome, a congenital disease characterized by developmental and neurological defects.

Tom Blumenthal, chair of biochemistry and molecular genetics at the University of Colorado Health Sciences Center, says, "This one just struck me as really novel."

"This is in fact a very interesting case of alternative splicing because it means the difference between making a functional and a non-functional serotonin receptor. So, it is by its nature a very interesting case of alternative splicing and it turns out to be regulated by what appears to me to be an...