Browsing by Author "Adipietro, Kaylin A"

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    The missense of smell: functional variability in the human odorant receptor repertoire.
    (Nat Neurosci, 2014-01) Mainland, Joel D; Keller, Andreas; Li, Yun R; Zhou, Ting; Trimmer, Casey; Snyder, Lindsey L; Moberly, Andrew H; Adipietro, Kaylin A; Liu, Wen Ling L; Zhuang, Hanyi; Zhan, Senmiao; Lee, Somin S; Lin, Abigail; Matsunami, Hiroaki
    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.