Regional and time-resolved mutation patterns of the human genome

Bioinformatics
Peter F Arndt, Terence Hwa

Abstract

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

Citations

May 9, 2009·Molecular Biology and Evolution·William Fletcher, Ziheng Yang
Jun 23, 2010·BMC Evolutionary Biology·Paz PolakPeter F Arndt
May 7, 2009·BMC Evolutionary Biology·Hideo ImamuraJeffrey H Chuang
Jan 25, 2006·Proceedings of the National Academy of Sciences of the United States of America·Serge SaxonovDouglas L Brutlag
Feb 11, 2005·Molecular Biology and Evolution·Soojin Yi, Wen-Hsiung Li
Dec 8, 2009·The Journal of Clinical Endocrinology and Metabolism·Sumito DatekiTsutomu Ogata
May 28, 2020·Proceedings of the National Academy of Sciences of the United States of America·Vedant SachdevaArvind Murugan
Jul 22, 2018·Algorithms for Molecular Biology : AMB·Alexander Donath, Peter F Stadler
Mar 21, 2008·Physical Review Letters·Ville Mustonen, Michael Lässig
May 21, 2005·Physical Review Letters·Philipp W MesserMichael Lässig

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