Presentation Time: 4:50-5:10
Home University: UNC-Chapel Hill
Research Mentor: Ben Philpot, Cell Biology and Physiology
Program: SMART
Research Title: “TCF4 expression in the developing Macaque neocortex.”
Pitt Hopkins Syndrome (PTHS) is a genetic disorder resulting from a mutation or
deletion of the TCF4 gene. Individuals with PTHS have different levels of intellectual
disability, speech impairments, seizures, breathing anomalies, and gastrointestinal
problems. Despite TCF4 clinical importance, its biodistribution in the primate brain is still
largely unknown. Therefore, the objective of this project is to analyze TCF4 expression pattern in primates. We used multiple immunofluorescent labeling to map TCF4 expression in
normal prenatal (gestational day 150), neonatal (2 weeks old), and
adult (1 month, 3 months, and 5 years) rhesus macaque brains, focusing on the neocortex where
TCF4 expression is highest. Quantitative analysis shows that TCF4 can be detected in
most neurons across all cortical regions. Interestingly, 10 to 20% of neurons,
concentrating in layer 2 and 4, express high levels of TCF4. This contrasts with the
mouse neocortex where TCF4 expression level is uniformly expressed across all layers. Such difference may prove important for delivering proper TCF4 gene therapy in
humans and point to the importance of furthering our understanding of TCF4 biology in
primates.