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Discovering mutational patterns in mammals using comparative genomics


Polak,  Paz
Evolutionary Genomics (Peter Arndt), Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Polak, P. (2010). Discovering mutational patterns in mammals using comparative genomics. PhD Thesis, Freie Universität, Berlin.

Cite as: http://hdl.handle.net/11858/00-001M-0000-0010-7A51-A
Introduction Deoxyribonucleic acid (DNA) is a highly stable molecule. However, changes in the sequence, called DNA mutations, continuously occur but typically at very low rates. Although mutations are seen as the fuel for evolution, little is known about their rates along chromosomes. Currently, the best way to study the patterns of mutation rates along chromosomes is via comparative genomics. In this introduction, I will review the two main lessons from comparative genomics studies on the most frequent mutations, the single nucleotide mutations. Firstly, mutation rates vary along chromosomes and are correlated with the activity of processes such as replication, recombination and transcription. Secondly, there is a mutational spectrum, which means that not all mutation rates are equal to each other.