Summary
The goal of this proposal is to elucidate fundamental molecular mechanisms of the RNA binding protein FMRP in relevant human cell types. Our preliminary data show that FMRP binds pre-mRNA targets in human embryonic stem cells and excitatory cortical neurons, and we will now test as series of hypotheses regarding FMRP’s role in RNA processing. As loss of FMRP is causative for Fragile X syndrome, these data have important implications for human disease biology.