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Nat Neurosci. 2014 Jan;17(1):114-20. doi: 10.1038/nn.3598. Epub 2013 Dec 8.

The missense of smell: functional variability in the human odorant receptor repertoire.

Author information

1
1] Monell Chemical Senses Center, Philadelphia, Pennsylvania, USA. [2] Department of Molecular Genetics and Microbiology, Duke University Medical Center, Research Drive, Durham North Carolina, USA. [3] Department of Neuroscience, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.
2
Laboratory of Neurogenetics and Behavior, The Rockefeller University, New York, New York, USA.
3
1] Department of Molecular Genetics and Microbiology, Duke University Medical Center, Research Drive, Durham North Carolina, USA. [2].
4
Department of Molecular Genetics and Microbiology, Duke University Medical Center, Research Drive, Durham North Carolina, USA.
5
Monell Chemical Senses Center, Philadelphia, Pennsylvania, USA.
6
1] Monell Chemical Senses Center, Philadelphia, Pennsylvania, USA. [2] Department of Neuroscience, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.
7
1] Department of Molecular Genetics and Microbiology, Duke University Medical Center, Research Drive, Durham North Carolina, USA. [2] Department of Neurobiology and Duke Institute for Brain Sciences, Duke University Medical Center, Research Drive, Durham North Carolina, USA.

Abstract

Humans have ~400 intact odorant receptors, but each individual has a unique set of genetic variations that lead to variation in olfactory perception. We used a heterologous assay to determine how often genetic polymorphisms in odorant receptors alter receptor function. We identified agonists for 18 odorant receptors and found that 63% of the odorant receptors we examined had polymorphisms that altered in vitro function. On average, two individuals have functional differences at over 30% of their odorant receptor alleles. To show that these in vitro results are relevant to olfactory perception, we verified that variations in OR10G4 genotype explain over 15% of the observed variation in perceived intensity and over 10% of the observed variation in perceived valence for the high-affinity in vitro agonist guaiacol but do not explain phenotype variation for the lower-affinity agonists vanillin and ethyl vanillin.

PMID:
24316890
PMCID:
PMC3990440
DOI:
10.1038/nn.3598
[Indexed for MEDLINE]
Free PMC Article

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