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Human Molecular Genetics 2004 13(Review Issue 2):R245-R254; doi:10.1093/hmg/ddh253
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Human Molecular Genetics, Vol. 13, Review Issue 2 © Oxford University Press 2004; all rights reserved

Positive selection on the human genome

Eric J. Vallender1,2 and Bruce T. Lahn1,*

1Department of Human Genetics, Howard Hughes Medical Institute and 2Committee on Genetics, University of Chicago, Chicago, IL 60637, USA

Received July 6, 2004; Accepted July 26, 2004

Positive selection has undoubtedly played a critical role in the evolution of Homo sapiens. Of the many phenotypic traits that define our species—notably the enormous brain, advanced cognitive abilities, complex vocal organs, bipedalism and opposable thumbs—most (if not all) are likely the product of strong positive selection. Many other aspects of human biology not necessarily related to the ‘branding’ of our species, such as host–pathogen interactions, reproduction, dietary adaptation and physical appearance, have also been the substrate of varying levels of positive selection. Comparative genetics/genomics studies in recent years have uncovered a growing list of genes that might have experienced positive selection during the evolution of human and/or primates. These genes offer valuable inroads into understanding the biological processes specific to humans, and the evolutionary forces that gave rise to them. Here, we present a comprehensive review of these genes, and their implications for human evolution.

* To whom correspondence should be addressed. Tel: +1 7738344393; Fax: +1 7738348470; Email: blahn{at}bsd.uchicago.edu


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