On Thursday, 29 August, Mar Soto Luiz de la Torre will
defend her PhD thesis at Utrecht University. With her colleagues in
the Medema group in the Netherlands Cancer Institute,
she developed a system to study the consequences of gaining or
losing chromosomes. Het promotor is René Medema and her co-promotor
is Jonne Raaijmakers. Good luck, Mar!
Gains and losses of chromosomes
It has widely been shown that gains and losses of chromosomes
have very detrimental consequences in healthy cells and very few
chromosomal abnormalities are compatible with human life. However,
the vast majority of tumors are aneuploid, which means that
their cells harbour a wrong number of chromosome. In order to get
some insight understanding such a paradox, the researchers focused
on the immediate and long-term consequences of aneuploidy in normal
What influences tolerance to imbalances?
They developed a system to generate aneuploid cells and found
three factors that influenced tolerance to aneuploidy:
- The number of chromosomes gained or lost
- Chromosome losses were less well tolerated than chromosome
- Imbalances of whole chromosomes could be tolerated whereas
gains or losses of pieces of chromosomes were not.
Guardian of the genome
Interestingly, they also found that p53, the gene known as the
guardian of the genome, has a pivotal role in such tolerance. Since
it is already known that the majority of the tumors lack functional
p53, the data described in this thesis helps to understand the
difference in tolerance to so-called aneuploidy between healthy and
Read more on the Utrecht University website.