Wei Zhang¹ and M. Eileen Dolan^1,2,3

¹Section of Hematology/Oncology, Department of Medicine, ²Committee on Clinical Pharmacology and Pharmacogenomics, ³Cancer Research Center, The University of Chicago, IL 60637, U.S.A.

Abstract

Though debates exist on the early human evolutionary models such as the “Out of Africa” theory, which hypothesizes that modern humans migrated from Africa to Europe about 50,000 to 100,000 years ago, Africans and Europeans were geographically separated with minimal gene flow for tens of thousands of years. The variations between the current European and African populations, therefore, should have evolved during this timeframe. To gain more insights into the evolutionary history of human phenotypes including gene expression, it is critical to tell how recent positive selection has played a role in the variations observed in the current populations. Using the list of differentially expressed genes we previously identified between the HapMap samples derived from individuals of African (from Ibadan, Nigeria) and European (from Utah, USA) ancestry, we searched for evidence of selection among these differential genes. We found that 27 differentially expressed genes (out of 356 tested) between these two European and African populations have been under recent positive selection. Our findings suggest that the variation between these two populations appears to be affected primarily by neutral genetic drift and/or stabilizing selection and to a lesser degree by positive selection. Further annotation enrichment analyses showed that these 27 genes under selection were overrepresented in certain Gene Ontology biological processes, molecular functions and cellular components such as transcription, lipid binding and lysosome. Our results can provide unique insights into the evolutionary history of the variation in the gene expression phenotype between these two human populations.