A recent study by Magdalena Gayà-Vidal and Mar Albà, at the Biomedical Informatics Research Program (GRIB, IMIM-UPF), has investigated how we can use human genetic data to learn about mutations that might have conferred a selective advantage to humans in the past 5 Million years of evolution. The results have been published in BMC Genomics (July 16 2014): Uncovering adaptive evolution in the human lineage.
The availability of genetic variants from a large number of individuals, through initiatives such as the 1000 Genomes Project, is not only useful to understand the genetic basis of disease but also to gain a new insight into human evolution. Variation data provides us with a measure of the proportion of amino acid changes that a protein can tolerate whilst conserving its function. This is important because we can compare this value to the number of changes in the same protein during the evolution of humans away from the common primate ancestor. If we observe more changes than expected we can predict that there has been a rapid fixation of advantageous mutations by positive selection. Using protein coding sequences from human, chimpanzee, macaque and mouse the study has identified nearly 200 genes that have evolved more rapidly in humans than in other primates and which are enriched in positively selected sites. The list includes several genes encoding neural proteins.