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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Mainland, JD; Keller, A; Li, YR; Zhou, T; Trimmer, C; Snyder, LL; Moberly, AH; Adipietro, KA; Liu, WLL; Zhuang, H; Zhan, S; Lee, SS; Lin, A; Matsunami, H

Published Date

  • January 2014

Published In

Volume / Issue

  • 17 / 1

Start / End Page

  • 114 - 120

PubMed ID

  • 24316890

Pubmed Central ID

  • PMC3990440

Electronic International Standard Serial Number (EISSN)

  • 1546-1726

Digital Object Identifier (DOI)

  • 10.1038/nn.3598


  • eng

Conference Location

  • United States