Département de biochimie
P 514 343-6984
Characterization of nuclear and organelle DNA rearrangements in the genome of humans and plants
Genome instability, whether arising from point mutations, copy-number variation, gross chromosomal rearrangements or other outcomes, is most frequently associated with potentially deleterious effects. These modifications to genetic material are indeed linked to various diseases such as hypertension, early-onset Alzheimer’s disease, and cancer, to name a few. These consequences have been an important consideration driving the study of genomic instability, but other areas of research also benefit from a better understanding of the mechanisms leading to genome variation. Because these mechanisms are responsible for the evolution of genomes, a better comprehension of their inner workings presents itself as a common interest to biomedical research and evolutionary biology.
In my laboratory, we are interested in genomic rearrangements that take place in nuclear and organelle genomes, both in humans and plants. We have developed a bioinformatic approach that allows the detailed characterization of DNA rearrangements, many of them occurring at a stalled replication fork and leading to U-turns and chromosome inversions. Using the model plant Arabidopsis as a genetic system, we have identified a few proteins that act to prevent such occurring in the cells. In a second project, we also study the effect of gene transcription on genome stability.
- Tremblay-Belzile S, Lepage É, Zampini É, Brisson N. Short-range inversions: rethinking organelle genome stability: template switching events during DNA replication destabilize organelle genomes. Bioessays 37, 1086-1094 (2015).
- Zampini, E., Lepage, E., Tremblay-Belzile, S., Truche, S. and Brisson, N. Organelle DNA rearrangement mapping reveals U-turn-like inversions as a major source of genomic instability in Arabidopsis and humans. Genome Res. 25, 645-654 (2015).
- Lepage, E., Zampini, E. and Brisson, N. Plastid Genome Instability Leads to Reactive Oxygen Species Production and Plastid-to-Nucleus Retrograde Signaling in Arabidopsis. Plant Phys. 163, 867–881 (2013).
- Cappadocia, L., Maréchal, A., Parent, J.-S., Lepage, E., Sygusch, J. and Brisson, N. Crystal Structures of DNA-Whirly Complexes and their Role in Plant Organelle Genome Repair. Plant Cell 22, 1849-1867 (2010).
- Maréchal, A., Parent, J.-S., Véronneau-Lafortune, F., Joyeux, A., Lang, B.F. and Brisson, N. Whirly Proteins Maintain Genome Stability in Arabidopsis. Proc. Natl. Acad. Sci. USA 106, 14693-14698 (2009).