Sequencing the genome of populations of humans and of model organisms revealed remarkable variability in the structure and composition of genomes between individuals of the same species. Genetic variation often evolves to compensate changes in the external environment or in the internal genetic makeup of a cell. These compensatory changes can, sometimes, make the difference between life and death—allowing cells with potentially lethal mutations to survive like normal cells. Studying the molecular mechanisms behind these events allows us to understand, ultimately, how different microscopical engines inside cells interact with each other and could provide insights into strategies to circumvent genetic diseases.
Latest works
Mutagenic mechanisms of cancer-associated DNA polymerase epsilon alleles
Mareike Herzog, et al.
Nucleic Acids Research, March 2021
A single amino acid residue change in the exonuclease domain of human DNA polymerase epsilon, P286R, is associated with the development of colorectal cancers, and has been shown to impart a mutagenic phenotype. … >continue
Trajectory of mutational signatures in yeast mutators
Sophie Loeillet, et al.
Proceedings of the Nat’l Academy of Sciences USA September 2020
The acquisition of mutations plays critical roles in adaptation, evolution, senescence, and tumorigenesis. Massive genome sequencing has allowed extraction of specific features of many mutational landscapes but it remains difficult to retrospectively determine the mechanistic origin… >continue
Genome architecture and stability in the Saccharomyces cerevisiae knockout collection.
Fabio Puddu, et al.
Nature,573(416–420), September 2019
Despite major progress in defining the functional roles of genes, a complete understanding of their influences is far from being realized, even in relatively simple organisms… >continue