A DROSOPHILA MODEL TO STUDY THE HUMAN MULTISYSTEMIC DISEASE WILLIAMS-BEUREN SYNDROME

The Williams-Beuren Syndrome (WS) is a human genetic nbsp;nbsp;nbsp;nbsp; disorder characterized by a number of physical and developmental disabilities. WS is caused by a gene micro-deletion that takes out approximately 15 genes from chromosome 7. WSTF, one of the genes deleted in WS is a key factor involved in the regulation of DNA accessibility. In eukaryotes DNA sequences must be rendered accessible in order to carry important cellular functions. Failure in the access of specific DNA sequences may be a leading cause of human diseases. nbsp;nbsp;nbsp;nbsp; WSTF is very similar in sequence and function to a gene present in the model organism Drosophila melanogaster . We therefore want to create a Drosophila model to study WS. In fact, it is useful to generate animal models to study human pathologies of genetic origin as they allow us to understand the functions of the genes responsible. Drosophila is an organism that offers an excellent model to study gene function because it has been studied for almost a century and a wealth of tools and information are available to the scientific community.nbsp;nbsp;nbsp;nbsp; Taking advantage of the genetic and biochemical tools available for this organism we want to understand if some of the defects associated with WS patients are due to loss of WSTF function and its role in modulating DNA accessibility. We expect that this study will allow us to identify key genes that may become interesting candidate to ameliorate and cure WS by gene therapy.