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Population differences in the human functional olfactory repertoire.

Yoav Gilad¹, Doron Lancet

¹Department of Molecular Genetics and the Crown Human Genome Center, The Weizmann Institute of Science, Rehovot, Israel. yoav.gilad@weizmann.ac.il

Molecular Biology and Evolution

|March 20, 2003

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Human olfactory receptors (OR) show genetic variations across populations. Pygmies may possess a larger functional OR gene repertoire than Caucasians, potentially due to positive selection.

Area of Science:

Genetics
Evolutionary Biology
Olfactory Neuroscience

Background:

Olfactory receptors (OR) are key to the sense of smell.
The human OR gene family is large, with many pseudogenes.
Ethnogeographic variations in OR genes are not well understood.

Purpose of the Study:

To investigate ethnogeographic variability in the functional olfactory receptor (OR) repertoire.
To compare OR gene integrity between Caucasian and Pygmy populations.
To explore potential evolutionary pressures on OR genes.

Main Methods:

Resequencing of 32 specific olfactory receptor (OR) loci.
Analysis of OR coding region integrity in Caucasian and Pygmy individuals.
Comparison of allele frequencies for intact and null OR variants.

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Main Results:

Thirteen OR loci had interrupted coding regions in all samples.
Seven OR loci were intact in all samples.
Twelve OR loci were polymorphic, with higher null allele frequencies in Caucasians than Pygmies.
Excess of high-frequency derived alleles observed in Caucasian OR genes, suggesting positive selection.

Conclusions:

African populations, like Pygmies, may have a larger repertoire of functional olfactory receptor (OR) genes.
Positive selection may have acted on olfactory receptor (OR) loci in Caucasian populations.
Demographic models alone do not fully explain observed OR gene variations.