Bayesian Markov chain Monte Carlo sequence analysis reveals varying neutral substitution patterns in mammalian evolution

2004 Proceedings of the National Academy of Sciences 412 citations

Abstract

We describe a model of neutral DNA evolution that allows substitution rates at a site to depend on the two flanking nucleotides (“context”), the branch of the phylogenetic tree, and position within the sequence and implement it by using a flexible and computationally efficient Bayesian Markov chain Monte Carlo approach. We then apply this approach to characterize phylogenetic variation in context-dependent substitution patterns in a 1.7-megabase genomic region in 19 mammalian species. In contrast to other substitution types, CpG transition substitutions have accumulated in a relatively clock-like fashion. More broadly, our results support the notion that context-dependent DNA replication errors, cytosine deamination, and biased gene conversion are major sources of naturally occurring mutations whose relative contributions have varied in mammalian evolution as a result of changes in generation times, effective population sizes, and recombination rates.

Keywords

Markov chain Monte CarloBiologyContext (archaeology)Substitution (logic)Phylogenetic treeMarkov chainGeneticsComputational biologyEvolutionary biologyBayesian probabilityGeneComputer scienceMathematicsStatisticsArtificial intelligence

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Year
2004
Type
article
Volume
101
Issue
39
Pages
13994-14001
Citations
412
Access
Closed

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Dick G. Hwang, Phil Green (2004). Bayesian Markov chain Monte Carlo sequence analysis reveals varying neutral substitution patterns in mammalian evolution. Proceedings of the National Academy of Sciences , 101 (39) , 13994-14001. https://doi.org/10.1073/pnas.0404142101

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DOI
10.1073/pnas.0404142101