Positive Selection, Relaxation, and Acceleration in the Evolution of the Human and Chimp Genome

Abstract

For years evolutionary biologists have been interested in searching for the genetic bases underlying humanness. Recent efforts at a large or a complete genomic scale have been conducted to search for positively selected genes in human and in chimp. However, recently developed methods allowing for a more sensitive and controlled approach in the detection of positive selection can be employed. Here, using 13,198 genes, we have deduced the sets of genes involved in rate acceleration, positive selection, and relaxation of selective constraints in human, in chimp, and in their ancestral lineage since the divergence from murids. Significant deviations from the strict molecular clock were observed in 469 human and in 651 chimp genes. The more stringent branch-site test of positive selection detected 108 human and 577 chimp positively selected genes. An important proportion of the positively selected genes did not show a significant acceleration in rates, and similarly, many of the accelerated genes did not show significant signals of positive selection. Functional differentiation of genes under rate acceleration, positive selection, and relaxation was not statistically significant between human and chimp with the exception of terms related to G-protein coupled receptors and sensory perception. Both of these were over-represented under relaxation in human in relation to chimp. Comparing differences between derived and ancestral lineages, a more conspicuous change in trends seems to have favored positive selection in the human lineage. Since most of the positively selected genes are different under the same functional categories between these species, we suggest that the individual roles of the alternative positively selected genes may be an important factor underlying biological differences between these species.

Synopsis

Since the publication of the human and the chimp genomes, one of the major challenges in evolutionary biology has begun to be deciphered: namely, the search for positively selected genes that have shaped humanness. Arbiza and colleagues undertake a genomic-scale search for the genes that have been positively selected in human, in chimp, and in their common ancestral lineage. They conclude that events of positive selection were six times more frequent in chimp than in human, although they do not group under specific functional classes that have been preferentially selected in either species. However, in the comparisons of the evolutionary trends between the ancestral and the descendant lineages, they found that most of the relative differences in common classes show an abundance of positive selection on the human branch. By differentiating positive selection from a relaxation of selective constraints, both producing analogous footprints in the genome, they demonstrate that many of the genes previously thought to have been positively selected correspond to likely cases of relaxation. Finally, they quantify the bias produced by the use of average rate–based approaches to concentrate cases of adaptive evolution in these species.