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
- Published version (via Digital Object Identifier)
- Pubmed Central version
- Open Access Copy from Duke
- Link to Item
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
Language
- eng
Conference Location
- United States