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Bioinformatics 20(10) © Oxford University Press 2004; all rights reserved.

GCB Conference Paper

Regional and time-resolved mutation patterns of the human genome

Peter F. Arndt 1,* and Terence Hwa 2

1 Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany and 2 Physics Department, University of California at San Diego, La Jolla, CA 92093, USA

Received on October 12, 2003; accepted on February 3, 2004

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.

Availability: The programs used are available upon request from the authors.

Contact: peter.arndt{at}molgen.mpg.de

* To whom correspondence should be addressed.


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