The majority of our genome is highly repetitive sequence derived from the activities of self-propagating retrotransposons. Research in our lab focuses on roles these mobile genetic elements play in human disease. Despite their enormous impact on genome composition over evolutionary time and across virtually all eukaryotic taxa, transposons are often presumed to be inert, non-functional ‘junk DNA’. Our work is challenging that assumption.
Our laboratory was one of the first to develop a targeted method for mapping mobile DNA insertion sites in the human genome, which underscored that these are a significant source of structural variation (Cell, 2010). We have described the aberrant expression of Long INterspersed Element-1 (LINE-1) open reading frame 1 protein (ORF1p) in a wide array of human cancers (American Journal of Pathology, 2014), and shown that this expression is associated with somatically-acquired LINE-1 insertions in cancer genomes in pancreatic ductal adenocarcinomas (Nature Medicine, 2015) and high grade serous ovarian cancers (Proceedings of the National Academy of Sciences, 2017). We have ongoing projects focused on the functional consequences of inherited mobile element insertions (Proceedings of the National Academy of Sciences, 2017) and LINE-1 expression in cancers (Nature Structural and Molecular Biology, 2020).
We invite you to explore our webpage, read about our work on mobile DNAs, and visit our laboratory in the Department of Oncologic Pathology at the Dana-Farber Cancer Institute.