Graduate Student, Molecular Biosciences
Thesis Title: Aspects of genetic diversity from the genome to the system level
Michael PH Stumpf
About
The variation in the many phenotypic traits among individuals of natural populations reflects an underlying diversity in their genomes. In order to capture the variety of mechanisms that shape this diversity, we explored four of its main aspects.
First, we examined the popular “Thrifty Gene Hypothesis” which aims to explain the variation in obesity and Type II diabetes prevalences between European and Non-European populations. Challenging it for the first time in a population genetic framework has allowed us to rule out the simplest and most popular version of the hypothesis.
To further elucidate the differences mentioned above, a greater insight into the histories of European and Non-European populations was needed. Population history is analysed using molecular markers, such as SNPs and microsatellites. A combination of these two markers was found to be most appropriate for the analysis of human population history. “SNPSTRs” are compound DNA markers consisting of one SNP and one microsatellite locus so they could be used for the task. A database of SNPSTRs identified in five model species was created.
Given the ubiquitous nature of SNPSTRs in the genome, the SNPSTR dataset can also be seen as the most complete microsatellite sample to date. As such, the dataset was used to examine microsatellite diversity within and between species to gain greater insights in the microsatellite mutation mechanism.
Finally, genome-level variation is linked to variation at the protein interaction level through gene expression. We performed a comparative study to investigate this relationship.
