The loss of two regulatory RNAs is critical for the development of Prader-Willi syndrome. One of these RNAs prevents the formation of a truncated serotonin receptor. We will test the role of this truncated serotonin receptor in the production of growth hormones and determine whether it is a ‘master regulator’ for other receptors. Based on our preliminary studies and published literature, it is likely that the truncated receptor sequesters other receptors inside the cell, which prevents the production of growth hormone. This idea will be tested in cells and in mouse models. Importantly, we will determine weather a short synthetic RNA promotes growth hormone production and could substitute one of the missing regulatory RNAs.

Funded Year:


Awarded to:

Stefan Stamm, PhD




University of Kentucky

Research Outcomes:

SNORD116 and SNORD115 change expression of multiple genes and modify each other's activity

Dual function of C/D box small nucleolar RNAs in rRNA modification and alternative pre-mRNA splicing

Oligonucleotide-induced alternative splicing of serotonin 2C receptor reduces food intake