All human cells contain genomic DNA composed of thousands of genes coding for all the elements required for life. Our genomic DNA is divided into very long molecules called chromosomes that measure approximately one meter in combined length. In order to fit inside the small volume of a cell, chromosomes must be tightly packaged and organized. Our genome is organized in a functional manner to ensure the proper retrieval of information during activities such as gene expression. In addition to reducing the length of chromosomes, it was found that genome architecture also regulates genomic activities. Importantly, it was shown that errors in spatial genome organization could lead to aberrant gene expression and to human disease or disorder. These findings raise two key questions: How is our genome organized in the nucleus of cells?, and What are the mechanisms involved in regulating its tree-dimensional organization?
My research program addresses these questions by mapping human genome architecture in cancer cells and during cellular differentiation with the so-called "3C technologies". The highly innovative 3C techniques are sophisticated methods used to map spatial genome organization at very high resolution. Our hypothesis is that non-coding RNAs and a specific set of proteins that bind genomic DNA participate in shaping genome architecture to promote or prevent the expression of genes, and that these types of control mechanisms can be faulty in human disease or disorders. Our goal is to identify and characterize these molecular mechanisms, particularly those involved in development and in cancer.