New technology for direct detection of DNA double strand breaks

April 2013. In collaboration with an international team, BMLS scientists published a new technology utilising full genome sequencing for detection of fragile sites in the human genome in this month's issue of Nature Methods.

Each cell is facing a substantial number of DNA double strand breaks (DSBs) every day. These breaks can be caused by normal metabolic or physiological processes, e.g. by replication, but also by damaging exogenous agents such as UV light or radiation. Breaks pose a major threat to genome stability - if they are not repaired correctly, they may give rise to mutations followed by severe diseases like cancer.

Therefore, extensive research efforts are undertaken to understand the generation and repair of such breaks. Despite the field being long established, the actual detection and visualization of DSBs was up to now only possible by indirect mechanisms, i.e. by staining proteins that are associated with breaks.

The team around Ivan Dikic has now published a new technology allowing a direct detection of breaks. They coined the new method 'BLESS' - for the combination of technologies used: direct in situ breaks labeling, enrichment on streptavidin and next-generation sequencing. This new approach allows mapping of DSBs in the whole genome with so far unprecedented resolution and specificity. It may be suitable for monitoring persons who are e.g. undergoing chemotherapy or have a higher occupational risk for double starnd breaks. Link to press release or full article.