Regional and time-resolved mutation patterns of the human genome

Arndt, Peter F.; Hwa, Terence

doi:10.1093/bioinformatics/bth105

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Regional and time-resolved mutation patterns of the human genome

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Arndt, Peter F.
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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Citation

Arndt, P. F., & Hwa, T. (2004). Regional and time-resolved mutation patterns of the human genome. Bioinformatics, 20(10), 1482-1485.

Cite as: https://hdl.handle.net/11858/00-001M-0000-0010-8816-0

Abstract

Motivation: Substantial regional variations of substitutional processes have recently been reported from human/mouse comparisons. However, several features including the C + G dependence and the CpG-based transition effect remain obscure. Results: Utilizing the vast amount of transposable elements in the human genome, we performed detailed analysis of the substitutional and insertion/deletion patterns along the human lineage in a regional and time-resolved fashion. We observed a drastic increase in the CpG-based transition frequency at about the time of the mammalian radiation. We also observed clear regional biases of substitution patterns, most notably a bias to enrich the C+G content toward the telomeres.