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Originally published as Genetics Published Articles Ahead of Print on June 4, 2006.
Genetics, Vol. 173, 2165-2177, August 2006, Copyright © 2006
doi:10.1534/genetics.106.055715
Scan of Human Genome Reveals No New Loci Under Ancient Balancing Selection
K. L. Bubb*,1,
D. Bovee
,
D. Buckley,
E. Haugen,
M. Kibukawa,
M. Paddock,
A. Palmieri,
S. Subramanian,
Y. Zhou,
R. Kaul,
P. Green*,
and
M. V. Olson*
* Department of Genome Sciences, University of Washington Genome Center, Howard Hughes Medical Institute, University of Washington, Seattle, Washington 98195
1 Corresponding author: Department of Genome Sciences, University of Washington, Seattle, WA 98195.
E-mail: kbubb{at}u.washington.edu
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 16 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.
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