The missense of smell: functional variability in the human odorant receptor repertoire.
Nat Neurosci
; 17(1): 114-20, 2014 Jan.
Article
en En
| MEDLINE
| ID: mdl-24316890
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Olfato
/
Variación Genética
/
Receptores Odorantes
/
Percepción Olfatoria
Límite:
Adult
/
Aged
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Female
/
Humans
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Male
/
Middle aged
Idioma:
En
Revista:
Nat Neurosci
Asunto de la revista:
NEUROLOGIA
Año:
2014
Tipo del documento:
Article