Search

Objective: To explore the pathogenic genes of pulmonary arterial hypertension (PAH) and validate the association between OR2T3 gene and PAH., Methods: Whole exome sequencing was performed in four patients and one healthy person as control in two pulmonary arterial hypertension pedigree; patient-specific variations were screened by bioinformatics methods and comparison between groups. To further analyze the association between these variations and PAH, Sanger sequencing was used to analyze the genotype of patient-specific variations of 30 patients with idiopathic PAH, 90 healthy people and 30 patients with chronic thromboembolic pulmonary hypertension., Results: The preliminary findings of whole exome sequencing were 57 variations may be associated with PAH; Among them, there were 6 AG heterozygotes due to OR2T3rs148748995 in the 30 idiopathic PAH patients, while no G allele carrier was found in other healthy people of two pulmonary arterial hypertension pedigree (AⅠ-1, AⅡ-3, BⅡ-1) and 90 normal control, and the difference was statistically significant (P<0.05). The variation also didn't exist in 30 chronic thromboembolic pulmonary hypertension patients., Conclusion: OR2T3 gene may be the pathogenic gene of PAH and OR2T3rs148748995 could have a role in the development of PAH.

Objective: To clone and identify olfactory receptor odorant receptor 7 (OR7) gene of Aedes albopictus and analyze its expression profile and calcium regulation function., Method: RT-PCR was used to amplify the olfactory receptor OR7 gene of Ae. albopictus and OR7 expression was detected in different tissues and organs. The coding sequence of OR7 gene was cloned in eukaryotic expression vector pME18s, which was then transfected into HEK293 cells. The calcium callback function in response to odor molecule stimulation was analyzed by calcium imaging technique., Results: The OR7 gene of Ae. albopictus was cloned and sequence analysis showed that its coding region was 1395 bp. RT-PCR detected OR7 expression in the larvae, pupae and adult mosquitoes, especially in female mosquitos. Preliminary analysis of calcium callback function demonstrated the specific regulation of calcium absorption by OR7 in response to odor molecule stimulation., Conclusion: The OR7 gene of Ae. albopictus has been cloned successfully. OR7 is highly expressed in female mosquitos and is capable of specific recognition of the odor molecules.

The olfactory perception is the process that the olfactory receptor is activated by odorous molecules, which induce the transduction of signal in the cell and the chemical information is transduced into electrical impulses. After the changed signal is transmitted to the brain, the whole perception process completes. OR gene belongs to the multigene family. The coded olfactory receptor proteins belong to the G-protein-coupled receptor (GPCR) superfamily and therefore are invariably seven-transmembrane domain(7TM) protein. Olfactory receptor protein plays an important role in olfactory perception and signal transduction process.

The olfactory sense plays a key role in animals'life time. The main gene related with olfaction was olfactory receptor (OR) gene. This review introduced the structure, expression regulation, distribution, molecular evolution and polymorphism of OR gene. The relationship between OR gene and olfactory function and olfactory deficits was also discussed.

Objective: To constitute the animal model of unilateral olfactory nerve transection and observe the expression level and distribution of odorant receptors., Methods: Thirty-two rats were divided into two groups: the olfactory nerve transection group (20) and the control group (12). The former group received the operation to transect the left olfactory nerve following the left olfactory bulb was exposed under microscope and the latter group did not give any disposal. At every stage of five days, two weeks, four weeks and six weeks after the operation, five rats from the nerve transection group and three from the control group were anaesthetized simultaneously, and olfactory epithelium were taken out after transcardial perfusion, then paraffin imbedding. Coronal sections were sliced for HE staining to observe the thickness changes of the olfactory epithelium, and for in situ hybridization (ISHs) to investigate the expression of olfactory receptor genes (Olr287, Olr226, Olr1493 and Olr1654) in the epithelium, also to evaluate the changes of the expression level and location of the selected receptors during the regeneration of olfactory epithelium., Results: HE staining showed that 5 days after the operation cell quantity and thickness of the olfactory epithelium decreased obviously, which increased gradually 2 or 4 weeks after operation. After 6 weeks' recovery, the thickness of the epithelium could reach the control level. The pattern of cell staining by ISH showed a specific spatial distribution along the anteroposterior (AP) and dorsoventral (DV) axis. Evidence suggested that odorant receptors were distributed in continuous and multiple overlapping bands in the normal or nerve transected-recovered epithelium rather than in the conventionally accepted three or four zones. The data also demonstrated that the distribution of sensory neuron types, as identified and defined by odorant receptor expression, was restored to normal or nearly so by 6 weeks after operation. Likewise, the numbers of probe-labeled neurons in the nerve transected-recovered had an obvious decrease 5 days after olfactory nerve transection. Reactive cells (x(-) +/- s) of Olr1493 in the operated side was (53.9 +/- 19.9), compared with (419.0 +/- 21.2) in the unoperated side, there was statistic significance between them (t = 63.960, P < 0.01). Reactive cells increased gradually according to the regeneration of the epithelium, and were nearly equivalent to the normal side 6 weeks later without significant differentiation (t = 2.600, P > 0.05), according to the absolute positive cells in the operated and unoperated side of (417.8 +/- 32.4) and (445.3 +/- 10.0) respectively., Conclusion: The regeneration of the sensory neurons and receptors, both the number and the distribution, can recover to normal after olfactory nerve transection.