Centre d'innovation Génome Québec et Université McGill
Domaine : Génétique humaine
Pluripotent embryonic stem cells hold the promise of being a renewable source of replacement cells and tissues for a number of diseases and conditions including Parkinson¿s disease, spinal cord injury, heart disease, diabetes, and arthritis. Although clinical trials that use cells derived from human embryonic stem cells (hESC) are already underway, in-depth characterization of all aspects of hESC biology will be paramount to the successful realization of stem cell-derived cures. We recently completed a detailed analysis of the regulatory network of hESCs and identified a family of repetitive DNA elements, also called transposable elements, with a distinctive activity profile that is specific to undifferentiated stem cells. Most computational methods disregard repetitive elements when processing next-generation sequencing (NGS) data, despite repeats representing ~50% of the genome. My work will develop new methods to allow the inclusion of repetitive DNA in NGS studies and investigate the role of repeats as transcriptional control elements for cellular gene expression, particularly in hESCs. Given that a large fraction of human-specific genomic sequences are derived from repetitive DNA, including regions that differ between individuals, their functional characterization in developmental and disease models will be essential.