p 53 Missense Mutation C ancer. Outline. Disease related to p53 Role and regulation pathway Structure of p53 Missense mutation and consequences E xperiment’s proposal of p53 missense mutant cancer. I. Diseases cause by mutated p53. Aneuploidy phenotype Li- Fraumeni syndrome (rare)
1. upstream pathways
2. downstream pathways
In stressed conditions, p53 is activated by:
The turn on of p53 lead to:
The DNA binding domain is folding as beta barrel or beta-sandwich
1st Goal: Design the input files and the starting structures for p53 cancer mutants.
2nd Goal: Using the AMBER software to run the stimulation and to compare the binding affinity between the mutations and the native states of p53, either with or without DNA ligand.
Loss of p53 creates genomic instability that most often results in the aneuploidy phenotype.
Li-Fraumeni syndrome (rare)
the mutation or loss of the p53 gene can be identified in more than 50% of all human cancer cases worldwide.