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MBE Advance Access published online on February 22, 2008
Molecular Biology and Evolution, doi:10.1093/molbev/msn049
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© The Author 2008. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. All rights reserved. For permissions, please e-mail: journals.permissions@oxfordjournals.org

research article

Title: Overdominance in the human genome and olfactory receptor activity

Santos Alonso, Saioa López, Neskuts Izagirre and Concepción de la Rúa

Dept. Genetics, Physical Anthropology and Animal Physiology. Fac. Science and Technology. University of the Basque Country. Barrio Sarriena s/n. 48940 Leioa, Bizkaia, SPAIN

Corresponding author: Santos Alonso (santos.alonso{at}ehu.es), Tel +34-94-6013568, Fax: +34-94-6013500

Received for publication December 21, 2007. Revision received February 11, 2008. Accepted for publication February 14, 2008.

We investigate the contribution of overdominance to the maintenance of polymorphism in the human genome during the recent evolution of our species. Using the HapMap genotypic information we have detected that the Gene Ontology term "Olfactory receptor activity" is a molecular function over-represented in genes that have SNPs showing higher than expected number of heterozygotes in the HapMap populations. Our results suggest that the diversity of a subset of human Olfactory Receptors (ORs) may have been maintained by balancing selection, in the form of overdominance. This observation may suggest that the loss of olfactory receptor genes during the evolution of the human lineage may have been accompanied by an increased capability to discriminate odorants with closely similar structures.

Key Words: overdominance • heterozygote advantage • balancing selection • olfactory receptors • HapMap


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