人血栓素合成酶基因CYP5A1基因变异的鉴定

Dany Chevalier , Jean-Marc Lo-Guidice , Elodie Sergent , Delphine Allorge , Hervé Debuysère , Nicolas Ferrari , Christian Libersa , Michel Lhermitte , Franck Broly
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引用次数: 28

摘要

血栓素合成酶(CYP5A1)催化前列腺素H2转化为血栓素A2,血栓素A2是血小板聚集、血管收缩和支气管收缩的有效介质。它参与多种疾病的病理生理过程,如动脉粥样硬化、心肌梗死、中风和哮喘。基于CYP5A1基因变异可能在人类疾病中发挥重要作用的假设,我们对人类CYP5A1基因序列的变异进行了筛选。我们检查了200个个体的基因组DNA,以寻找启动子区域、蛋白质编码序列和CYP5A1的3 ' -未翻译区域的突变。在CYP5A1基因中发现了11个多态性,包括8个错义突变R61H、D161E、N246S、L357V、Q417E、E450K、T451N和R466Q。这是关于人类CYP5A1基因变异改变蛋白序列的首次报道。这些变异对CYP5A1代谢活性的影响仍有待进一步评估。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Identification of genetic variants in the human thromboxane synthase gene (CYP5A1)

Thromboxane synthase (CYP5A1) catalyzes the conversion of prostaglandin H2 to thromboxane A2, a potent mediator of platelet aggregation, vasoconstriction and bronchoconstriction. It has been implicated in the patho-physiological process of a variety of diseases, such as atherosclerosis, myocardial infarction, stroke and asthma. On the basis of the hypothesis that variations of the CYP5A1 gene may play an important role in human diseases, we performed a screening for variations in the human CYP5A1 gene sequence. We examined genomic DNA from 200 individuals, for mutations in the promoter region, the protein encoding sequences and the 3′-untranslated region of the CYP5A1. Eleven polymorphisms have been identified in the CYP5A1 gene including eight missense mutations R61H, D161E, N246S, L357V, Q417E, E450K, T451N and R466Q. This is the first report of genetic variants in the human CYP5A1 altering the protein sequence. The effect of these variants on the metabolic activity of CYP5A1 remains to be further evaluated.

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