The olfactory receptors (ORs) are G-coupled protein receptors encoded by a large multigene family. OR genes are unequally distributed among 51 different loci on 21 human chromosomes. Sequence comparisons revealed that the human OR family is composed of 172 subfamilies. The ORs are located on olfactory sensory neurons in the olfactory epithelium of the nose and responsible for triggering the olfactory signal transduction pathway.
The molecular structure of ORs contains seven transmembrane helices, an extracellular N terminus (N) and an intracellular C terminus (C). Solvent-accessible amino acid residues within the extracellular part of the helix-defined barrel (yellow in Fig 1) might interact with the odorant, illustrated as androstenone. After a binding of an odorant to an OR, the receptor undergoes a conformational change, which triggers an intracellular cascade of signal transduction events.
Fig.1 The genes of the olfactory pathway. (a) 3D model of an OR, OR7D4. (b) A schematic presentation of the olfactory signal transduction pathway. (Hasin-Brumshtein, 2009)
OR gene expression is altered in several neurodegenerative diseases including Parkinson's disease (PD), Alzheimer's disease (AD), progressive supranuclear palsy (PSP), progressive supranuclear palsy (PSP) and sporadic Creutzfeldt-Jakob disease (sCJD) subtypes MM1 and VV2 with disease-, region- and subtype-specific patterns.
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