Agenda 28jun2019 PhD defense Jakob Goldmann

Jakob Goldmann The properties of newly arising, inheritable human mutations

Every human carries a couple of dozen mutations in the DNA of all his cells, which are new and not present in his or her parents; these are de novo mutations (DNMs).

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Jakob Goldmann The properties of newly arising, inheritable human mutations

Every human carries a couple of dozen mutations in the DNA of all his cells, which are new and not present in his or her parents; these are de novo mutations (DNMs). Most DNMs are not harmful, but in rare cases they can cause serious congenital diseases. We studied DNMs of healthy newborns to investigate when and how they arise. We found that ageing of the parents contributes to the number of DNMs, with paternal DNMs being more and with other properties than maternal DNMs. A subset of DNMs occurs in clusters, these have distinct properties than unclustered DNMs. DNM clusters of the mother arise during ageing in proximity to DNA breaks. Next to ageing of the parents there are other influences on the number of DNMs, but these influences do not seem to be family-specific.

Date, time and location PhD defense

  • Date: 28 June 2019
  • Time: 14.30 hrs
  • Location: Radboud Universiteit, Academiezaal Aula, Comeniuslaan 2

Promotor

  • Promotors: Joris A. Veltman
  • Co-promotors: Christian Gilissen

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