Patterns of genetic recombination and variation in the human genome Inaugural – Dissertation zur Erlangung des Doktorgrades der Mathematisch- Naturwissenschaftlichen Fakultät der Universität zu Köln Vorgelegt von Ekaterina Shabanova aus Astrachan, Russland Köln 2009 Berichterstatter: Prof. Dr. Thomas Wiehe Prof. Dr. Jonathan Howard Tag der muendlichen Pruefung: 20 October 2009 Abstract Abstract Genetic recombination plays an important role in shaping genome variation. It enhances haplotype diversity, helps to maintain genome integrity and ensures the proper segregation of the chromosomes. While participating in DNA rearrangement, recombination is not an “independent player”. It is tightly connected and influenced by other genomic features, such as nucleotide diversity. A correlation between nucleotide diversity and recombination rate was observed in the human genome, as well as in the genomes of other organisms (Arabidopsis, Drosophila, etc). The traditional view that selection has contributed to shape this pattern was questioned by the view that it may solely be due to a mutagenic effect. Extensive analysis of the data from dbSNP and broad scale recombination maps revealed a high degree of uncertainty in the inferred correlation coefficients.