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

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.

journal_name

Nat Neurosci

journal_title

Nature neuroscience

authors

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

doi

10.1038/nn.3598

subject

Has Abstract

pub_date

2014-01-01 00:00:00

pages

114-20

issue

1

eissn

1097-6256

issn

1546-1726

pii

nn.3598

journal_volume

17

pub_type

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