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

Nature neuroscience (2013-12-10)
Joel D Mainland, Andreas Keller, Yun R Li, Ting Zhou, Casey Trimmer, Lindsey L Snyder, Andrew H Moberly, Kaylin A Adipietro, Wen Ling L Liu, Hanyi Zhuang, Senmiao Zhan, Somin S Lee, Abigail Lin, Hiroaki Matsunami
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.

MATERIALS
Product Number
Brand
Product Description

Sigma-Aldrich
Guaiacol, natural, ≥99%, FG
Sigma-Aldrich
Guaiacol, oxidation indicator
Supelco
Guaiacol, Pharmaceutical Secondary Standard; Certified Reference Material