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Major Scientific Break-Throughs

  • Paternal age-effect (PAE): Older fathers have more affected children with different types of congenital disorders than younger ones. I investigated the biology of this intriguing phenomenon and characterized the distribution of specific mutations in sperm and testes. We learned that certain mutations drive the clonal expansion of mutant spermatogonial stem cells, leading to an increased number of affected children with a new mutation fathered by older males. These findings have been a corner stone in understanding the paternal age-effect.
     
  • Mutagenic recombination: Another important finding of my work has been the analysis of the effect of recombination hotspots in sequence evolution. By analyzing a large number of single recombinant events, we find that meiotic recombination is mutagenic, yet these mutations are counteracted by unequal transmission of polymorphic sites, contrary to Mendel’s predictions.
     
  • Development of single molecule technologies: During my scientific career, I developed several techniques with single molecule-resolution that provide an unprecedented precision and clarity to study mutagenesis and recombination. With these single molecule resolution techniques, I have made substantial contributions in the biology of mutagenesis and recombination.