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• W2082188082 abstract "In this study, Mainland and colleagues de-orphan 18 human odorant receptors and find that 68% of these receptors exhibit polymorphisms that affect their function in vitro. They also show that the polymorphisms in one these odorant receptors, OR10G4, affect odor intensity and valence perception thus linking the molecular functioning of a single odorant receptor to human olfactory perception. 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." @default.
• W2082188082 created "2016-06-24" @default.
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• W2082188082 date "2013-12-08" @default.
• W2082188082 modified "2023-10-17" @default.
• W2082188082 title "The missense of smell: functional variability in the human odorant receptor repertoire" @default.
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• W2082188082 doi "https://doi.org/10.1038/nn.3598" @default.
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