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AKB: Biologische Physik

AKB 50: Poster Session "Biological Physics"

AKB 50.58: Poster

Freitag, 12. März 2004, 10:30–13:00, B

The History of Mutation Pattern along the Human Genome — •Peter Arndt — Max-Planck Institute for Molecular Genetics, Ihnestr. 73, 14195 Berlin

Long-ranged correlations of base composition along the chromosomes have been observed in the human genome. Although this so-called human isochore structure is known for a long time, we still do not know its origin or functional consequence. Here we utilize the vast amount of repetitive sequence deposited in the human genome over the past 250 Myr to investigate differences in the regional mutation patterns. Comparing substitutional patterns in repetitive elements of various ages, we reconstruct the history of the base-substitutional process in the different isochores. At around the time of the mammalian radiation, we find an abrupt 4- to 8-fold increase of the cytosine transition rate in CpG pairs compared to that of the reptilian ancestor. Further analysis of nucleotide substitutions in regions with different GC-content reveals that concurrently the substitutional pattern changed. We conclude that isochores have been established before the radiation of the eutherian mammals.