Detection of lineage-specific evolutionary changes among primate species
Detection of lineage-specific evolutionary changes among primate species
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Date
2011-07-04
Authors
Pertea, Mihaela
Pertea, Geo M
Salzberg, Steven L
Advisor
Citation
Pertea, M., Pertea, G.M. & Salzberg, S.L. Detection of lineage-specific evolutionary changes among primate species. BMC Bioinformatics 12, 274 (2011).
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Abstract
Background: Comparison of the human genome with other primates offers the opportunity to detect
evolutionary events that created the diverse phenotypes among the primate species. Because the primate
genomes are highly similar to one another, methods developed for analysis of more divergent species do not
always detect signs of evolutionary selection.
Results: We have developed a new method, called DivE, specifically designed to find regions that have evolved
either more or less rapidly than expected, for any clade within a set of very closely related species. Unlike some
previous methods, DivE does not rely on rates of synonymous and nonsynonymous substitution, which enables it
to detect evolutionary events in noncoding regions. We demonstrate using simulated data that DivE compares
favorably to alternative methods, and we then apply DivE to the ENCODE regions in 14 primate species. We
identify thousands of regions in these primates, ranging from 50 to >10000 bp in length, that appear to have
experienced either constrained or accelerated rates of evolution. In particular, we detected 4942 regions that have
potentially undergone positive selection in one or more primate species. Most of these regions occur outside of
protein-coding genes, although we identified 20 proteins that have experienced positive selection.
Conclusions: DivE provides an easy-to-use method to predict both positive and negative selection in noncoding
DNA, that is particularly well-suited to detecting lineage-specific selection in large genomes.