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Statistical analysis of point mutations through genomic comparisons

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Abstract Book of the XXIII IUPAP International Conference on Statistical Physics, Genova, Italy, (9-13 July 2007)

Abstract

The availability of several millions of point mutational differences between closely related species enabled us to construct the species specific evolutionary models. Two classes of mutational transitions were the subject of our analyzes: single nucleotide mutational replacements and insertion - deletion events, which are caused by the replication slippage mechanism. Both kinds of mutational changes were studied separately for protein coding regions and for non-coding regions. We found that in the period since the last common ancestor to human and chimpanzee the single nucleotide replacements in human lineage were not balanced and the principle of detailed balance was not fulfilled. The matrix of point mutational probabilities 1 was constructed separately for protein coding and non-coding regions. It was found that in human lineage the transitions which are replacing purines with purines or pyrimidines with pyrimidines are increasing the C+G content of human genome while transversions have the opposite effect. \\ 1) BORSTNIK Branko, PUMPERNIK Danilo, Evidence on DNA slippage step-length distribution, Phys. Rev. E 71 (2005) 031913

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