Dr. Carmichael has been investigating the changes in gene expression of PWS cells lacking SNORD116 genes compared to typical cells and has identified a set of 40 genes that are differentially expressed. In year 2 they will further characterize these genes and their role in PWS and will examine how SNORD116 controls their expression.
Dr. Tollervey is an expert in snoRNA biology. He has been investigating the snoRNAs in the PWS region and has found that loss of the SNORD116 genes alters neuronal maturation in PWS cells (https://www.biorxiv.org/content/10.1101/2023.10.24.563766v1). In year 2 of his funded project, they will use specialized techniques to identify the RNAs and...
The SNORD genes are known to be very important in PWS, but there is a lack of appropriate tools to study the target and function of these genes. Dr. He and his team have developed two new methods that can map the targets of the SNORD genes. They will apply these new methods to mouse models and human cell lines with a deficiency in PWS-encoded...
Through previous work using a new optimized method, Dr. Whipple discovered that Snord116, a driver of PWS, directly interacts with ribosomes, the machinery that produces proteins in the cell in mouse neurons. In this funded project, they will apply their optimized method to human neurons to ask if the interaction between SNORD116 and ribosomes is...
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