Susan E Cole, PhD
College of Arts & Sciences
Molecular Biology and Cancer Genetics
Alagille Syndrome, Ventricular Outflow Obstruction, Bone Diseases, Developmental
The Notch signaling pathway plays key roles in human development and disease. Disregulation of Notch signaling is frequently seen in human cancers, for instance, activating Notch mutations are seen in over 50% of juvenille T-ALL cases. Lunatic fringe (Lfng) is a key modulator of Notch signaling and, during development, links it to a cellular clock that times somitogenesis. One major focus of our research is to understand the transcriptional and post-transcriptional mechanisms that control the oscillatory activity of Lfng in the segmentation clock. This research provides key insights into more general mechanisms that control the spatial and temporal activation of the Notch pathway. In other projects we are analyzing other functions of fringe family proteins during development and in disease. Disregulation of Notch signaling is found in numerous cancers. By focusing on the regulation of Lfng activity and its ability to modulate Notch signaling, we will gain a deeper understanding of the importance of signaling modulation during normal cellular development, and how disruption of these processes may be involved in cancer.