CEM Seminar - Susanne Pfeifer

Center for Evolution and Medicine Fall 2015:The importance of mutation and recombination rate variation - lessons from chimpanze

Susanne Pfeifer, Visiting Scientist
École polytechnique fédérale de Lausanne
The importance of mutation and recombination rate variation - lessons from chimpanzees to lizards
Molecular evolution is driven by an interplay of different forces, with the relative importance of natural selection versus genetic drift for example being a debate as old as the field of population genetics itself. However, while indeed an important topic, both forces only act on genetic variation, but do not create it. Mutations, continuously giving rise to new variations in the genome, ultimately underlie both evolutionary adaptations and heritable diseases. As a result, the study and quantification of mutation rates is of fundamental importance in population and medical genetics as many key questions rely on its correct inference (from accurately dating demographic events to inferring selection to scanning for disease mutations). And though mutation is the source of variation, of equal importance is the study of recombination, which not only plays a critical role in the production of viable gametes in eukaryotes, but which itself is fundamentally important in the evolutionary process as it too generates novel variation by creating new mutational combinations on which natural selection may act. Somewhat paradoxically, despite its crucial importance and its highly constrained role in meiosis, recombination is tremendously variable and rapidly evolves even between closely-related species - an observation that raises important questions about recombination rate variation and its determinants. I will here highlight examples from my current and future work studying these two ultimate sources of genetic variation and their implications in evolution, and discuss applications ranging from primates to lizards.

Susanne Pfeifer is a computational evolutionary biologist, focused upon the inference and quantification of two fundamental evolutionary processes – mutation and recombination. She began her career as a BSc (2006) and MSc (2008) student in Computational Molecular Biology, advised by Thomas Lengauer (Max-Planck-Institute for Computer Science) and Volkhard Helms (Saarland University). She went on to earn her PhD in Statistics at the University of Oxford in 2012 advised by Gil McVean, studying primate population genetics. Pfeifer then did a postdoc in Vienna with Arndt von Haeseler (Center for Integrative Bioinformatics) and Magnus Nordborg (Gregor Mendel Institute) continuing in the area of primate genomics. She is currently a visiting scientist in Jeff Jensen's Lab (EPFL) where she is focusing on the evolution of cryptic coloration in wild populations of mice (in collaboration with Hopi Hoekstra, Harvard University) and lizards (in collaboration with Bree Rosenblum, UC Berkeley).