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MBE Advance Access published online on March 21, 2006

Molecular Biology and Evolution, doi:10.1093/molbev/msk008
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© The Author 2006. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. All rights reserved. For permissions, please e-mail: journals.permissions@oxfordjournals.org
Accepted March 13, 2006

Research Article

Strong Regional Biases in Nucleotide Substitution in the Chicken Genome

Matthew T. Webster 1 *, Erik Axelsson 2, and Hans Ellegren 2

1 Department of Evolution, Genomics and Systematics, Evolutionary Biology Centre, Uppsala University, Norbyvägen 18D, SE-752 36 Uppsala, Sweden; Present address: Smurfit Institute of Genetics, University of Dublin, Trinity College, Dublin 2, Ireland
2 Department of Evolution, Genomics and Systematics, Evolutionary Biology Centre, Uppsala University, Norbyvägen 18D, SE-752 36 Uppsala, Sweden

* To whom correspondence should be addressed.
Matthew T. Webster, E-mail: websterm{at}tcd.ie


   Abstract

Interspersed repeats have emerged as a valuable tool for studying neutral patterns of molecular evolution. Here we analyse variation in the rate and pattern of nucleotide substitution across all autosomes in the chicken genome by comparing present-day CR1 repeat sequences with their ancestral copies and reconstructing nucleotide substitutions with a maximum-likelihood model. The results shed light on the origin and evolution of large-scale heterogeneity in GC content found in the genomes of birds and mammals - the isochore structure. In contrast to mammals, where GC content is becoming homogenised, heterogeneity in GC content is being reinforced in the chicken genome. This is also supported by patterns of substitution inferred from alignments of introns in chicken, turkey and quail. Analysis of individual substitution frequencies is consistent with the biased gene conversion (BGC) model of isochore evolution and it is likely that patterns of evolution in the chicken genome closely resemble those in the ancestral amniote genome, when it is inferred that isochores originated. Microchromosomes and distal regions of macrochromosomes are found to have elevated substitution rates and a more GC-biased pattern of nucleotide substitution. This can largely be accounted for by a strong correlation between GC content and the rate and pattern of substitution. The results suggest that an interaction between increased mutability at CpG motifs and fixation biases due to BGC could explain increased levels of divergence in GC-rich regions.

Keywords: Isochore; base composition; chicken; mutation; recombination.
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