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Résumé |
Mutations are the net result of DNA damage, repair and replication errors. Because
cell types differ in their exposures, division rates and functions, their mutation
patterns should differ too. Yet one mutational signature, SBS5, appears across all
tissues and cell types, including post-mitotic neurons and the germline. Its cause
is unknown. By modeling how mutations arise, we find that SBS5 reflects repair
errors triggered by several types of damage. As predicted by the model, SBS5 rates
increase with signatures of endogenous and exogenous damage and vary with damage
and repair rates along the genome. |
