Structure Analysis and Phenotype of the PTF1‐J/Ptf1a P191T Mutant Heterotrimeric Complex

Abstract

The Hillcrest High School Biomedical Research Program in Dallas, Texas, studies the PTF1‐J and PTF1‐JL heterotrimeric complexes. The complexes are composed of a common E‐box binding protein, Ptf1a and RbpJ or RbpJL. These complexes are transcriptional master regulators of pancreas development. PTF1‐J is required for early pancreas development. During the secondary transition of pancreas development RbpJ is replaced by RpbJL. The PTF1‐JL complex is required for the mature acinar cell phenotype. In the current study we have performed structural modeling using Pymol and Jmol of the PTF1‐J and PTF1‐J/Ptf1a P191T complexes. Children born without a functional Ptf1a protein lack a pancreas, are severely diabetic and require immediate medical intervention by administering insulin to maintain blood glucose homeostasis and or enzyme therapy to provide digestive enzyme activity in the small intestine for nutrient uptake into the bloodstream. In the current study we have performed structural modeling of the PTF1‐JL/Ptf1a P191T complex and used 3‐D printing technology to generate a model that may help explain the loss of function resulting in pancreatic aplasia in children born with this mutation.This abstract is from the Experimental Biology 2018 Meeting. There is no full text article associated with this abstract published in The FASEB Journal.