Role of SNORD116/HBII-85 snoRNAs in Prader-Willi syndrome

Although the genetic region on chromosome 15 that is responsible for Prader-Willi Syndrome (PWS) has been known for many years, how the gene or genes within this large region cause the complex clinical features of PWS is still unknown. We have identified a small deletion on chromosome 15 of a patient with PWS features that narrows the causative region to a cluster of small genes of unknown function called SNORD116. SNORD116 are considered “orphans‟ because nothing is known about what they normally do or bind to. Using SNORD116 as “bait‟, we plan to “fish‟ for its interacting partners from mouse brain samples. We have shown that SNORD116 is highly expressed in the brain and have preliminary data indicating that fasting modulates this expression. With funding from FPWR, we plan to determine the normal biological role of SNORD116. Because obesity and hyperphagia are major features of PWS, we want to determine more about the SNORD116 expression changes when an animal is fasted and critically what happens to mice that don’t have Snord116; how do their brains respond to fasting?