Mutations, which constantly occur in every cell in our body, are a key factor contributing to cancer, aging and neurodegeneration. While exposure to mutagenic chemicals or errors in cellular processes during DNA replication contribute to such mutations, the exact distribution and patterns along human chromosomes have been a mystery until now.
He dr. Fran SupekICREA researcher and head of the Genome Data Science Laboratory at IRB Barcelona, and Marina Salvadoresa doctoral student in the same group, have delved into the field of DNA mutations, revealing unexpected patterns that differentiate individuals in terms of mutation risks.
Previous work from the lab identified a type of “genomic spell checker”: a DNA repair mechanism that directs attention to essential parts of human chromosomes, reducing mutation risks. On this basis, the present study aimed to unravel whether individuals present diverse mutation risks and, if so, what mechanisms drive these differences.
“This research not only expands our understanding of the factors that influence mutation rate distribution, but also has important implications for the understanding of cancer evolution, therapeutic strategies, and advances in regenerative medicine,” explains the dr. Supek.