Fanconi anemia is caused by mutations in number of genes involved in DNA repair. Two key players are genes called FANCD2 and FANCI. These genes serve as central regulators of the Fanconi DNA repair pathway. Dr. Deans and others have shown that regulation occurs through the addition or removal of a molecule called ubiquitin. In this project, Dr. Deans and his team will develop an antibody that detects ubiquitinated FANCD2 and thus tell us when the Fanconi pathway functions normally. This new antibody will facilitate the development of quick assays to diagnose Fanconi anemia. Dr. Deans will also explore how ubiquitinated FANCD2 interacts with DNA damage and communicates with other Fanconi gene products.
Researchers: Andrew Deans