Generating mutations in haploid human cells is a
powerful method to uncover new links between genes and phenotypes,
and examine genetic interactions in human cells. Vincent Blomen has
demonstrated that during his PhD research. He will defend his thesis on November 14th
The connection between an individual's genetic makeup (genotype)
and an individual's observable traits (phenotype) is often unclear.
Even genetic disorders that are caused by a defect in only a single
gene can manifest themselves differently in affected patients. The
precise consequence of genetic mutations is often difficult to
predict. That's because genes function in complex genetic networks
where gene function can be influenced by the action of other genes
or the environment.
Generating mutations on a large scale in human cells has been
technically challenging. This can be circumvented by using human
haploid cells, which contain just one copy of its genes. These
cells provide a good model for studying the effect of mutations and
their contribution to disease-relevant phenotypes. Haploid cells
can also be used for research on gene-environment and gene-gene
Blomen and his colleagues applied this approach to define a set of
around 2.000 genes required for cultured human cells to grow, and
to generate the first mutation-based genetic-interaction map in
human cells. They also showed that it is possible to generate
genetic wiring maps that give an overview of the genes that
influence cellular traits. These approaches can be applied to study
resistance mechanisms against pathogens or drugs, and genetic
interactions, and also to look for disease modifiers.
Blomen's thesis can be downloaded here.
Details of the defense
Vincent Blomen will defend his thesis on Tuesday November
14th, 12.45pm. Location: University Hall, Domplein 29, 3512 JE Utrecht.
The title of his thesis is: Studying disease-linked phenotypes
using haploid genetics. His promotor is Thijn Brummelkamp (Netherlands Cancer