Amphithéâtre Maurice Halbwachs, Site Marcelin Berthelot
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Abstract

Germline mutation is the source of all hereditary differences and evolutionary processes, and is therefore of fundamental importance. In mammals, analyses of phylogenetic patterns of the X chromosome and autosomes, as well as recent pedigree studies, show that in human beings, most mutations originate from the fathers, and that a greater number are transmitted from older fathers. The scientific consensus is that these patterns reflect mutations that occur during replication errors. This lecture focused on several lines of evidence that challenge this view, suggesting that most germline mutations result from DNA damage and not from replication errors. We also discussed recent results suggesting that post-zygotic mutations could constitute a non-negligible proportion of germline mutations.