Genetics. Published Articles Ahead of Print: June 4, 2006, Copyright © 2006
doi:10.1534/genetics.106.055715


A more recent version of this article appeared on August 1, 2006.


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Scan of human genome reveals no new loci under ancient balancing selection

1 University of Washington

* To whom correspondence should be addressed. E-mail: kbubb{at}u.washington.edu.

Submitted on January 12, 2006
Revised on February 9, 2006
Accepted on 31 May 2006


Abstract

There has been much speculation as to what role balancing selection has played in evolution. In an attempt to identify regions, such as HLA, at which polymorphism has been maintained in the human population for millions of years, we scanned the human genome for regions of high SNP density. We found sixteen regions that, outside of HLA and ABO, are the most highly polymorphic regions yet described; however evidence for balancing selection at these sites is notably lacking - indeed, whole genome simulations indicate that our findings are expected under neutrality. We propose that (i) because it is rarely stable, long-term balancing selection is an evolutionary oddity, and (ii) when a balanced polymorphism is ancient in origin, the requirements for detection by means of SNP data alone will rarely be met.

Key Words: Balancing selection, Human genome, Population genetics




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