Dr. Jean-Pierre Saint-Jeannet, New York University, will present a talk about his work entitled, “Understanding the Role of The Spliceosome in Craniofacial Syndromes: A Tale of Frogs and Embryonic Stem Cells.”

The Abstract is as Follows:

Synopsis: Nager syndrome is a rare craniofacial and limb disorder characterized by midface retrusion, micrognathia, absent thumbs, and radial hypoplasia. This disorder results from mutations in SF3B4 gene, which encodes a core component of the spliceosome. While the spliceosome is present and functions in all cells of the body to remove introns and join exons from transcribed pre-mRNA, many spliceosomopathies – including Nager syndrome – are often cell/tissue-specific in their pathology. In Nager syndrome patients it is the neural crest-derived craniofacial skeletal structures that are primarily affected. To understand the pathomechanism underlying this condition, we have developed two models of Nager syndrome by knocking down SF3B4 in Xenopus tropicalis and in human embryonic stem cells. We will present and discuss some of our findings.