Ppp3r2,也称为Calcineurin B,是一种重要的蛋白质磷酸酶3(PPP3)的调节亚基,属于钙调蛋白依赖性蛋白磷酸酶家族。PPP3是一种异源二聚体,由一个催化亚基(PPP3C,也称为Calcineurin A)和一个调节亚基(PPP3R,也称为Calcineurin B)组成。PPP3在多种生物学过程中发挥重要作用,包括免疫应答、细胞增殖、分化和凋亡。Ppp3r2作为PPP3的调节亚基,在调节PPP3的活性和功能方面起着关键作用。
Ppp3r2基因编码的蛋白质在多种组织中表达,但主要在睾丸中特异性表达。研究表明,Ppp3r2基因在精子发生和成熟过程中起着重要作用。在精子中,PPP3的活性对于维持精子的运动能力和形态完整性至关重要。Ppp3r2基因的突变或缺失会导致精子运动能力降低和形态异常,从而影响男性生育能力[1]。
此外,Ppp3r2基因还与多种疾病的发生和发展相关。研究表明,Ppp3r2基因的突变与炎症性肠病(IBD)的发生相关[6]。Ppp3r2基因的表达异常也与骨关节炎(OA)的发生和发展相关[2]。此外,Ppp3r2基因的变异还与人体耐力运动表型的个体差异相关[3,4,5]。
综上所述,Ppp3r2基因编码的蛋白质在精子发生、成熟和运动能力方面起着重要作用,同时与多种疾病的发生和发展相关。深入研究Ppp3r2基因的功能和机制对于理解男性生育能力、疾病发生和个体差异具有重要意义。
参考文献:
1. Miyata, Haruhiko, Satouh, Yuhkoh, Mashiko, Daisuke, Inaba, Kazuo, Ikawa, Masahito. 2015. Sperm calcineurin inhibition prevents mouse fertility with implications for male contraceptive. In Science (New York, N.Y.), 350, 442-5. doi:10.1126/science.aad0836. https://pubmed.ncbi.nlm.nih.gov/26429887/
2. Zhang, Xudong, Wang, Chuandong, Zhao, Jingyu, Dai, Kerong, Zhang, Xiaoling. 2017. miR-146a facilitates osteoarthritis by regulating cartilage homeostasis via targeting Camk2d and Ppp3r2. In Cell death & disease, 8, e2734. doi:10.1038/cddis.2017.146. https://pubmed.ncbi.nlm.nih.gov/28383548/
3. He, Zi-Hong, Hu, Yang, Wang, Hai-Yan, Ruiz, Jonatan R, Lucia, Alejandro. 2010. Are calcineurin genes associated with endurance phenotype traits? In European journal of applied physiology, 109, 359-69. doi:10.1007/s00421-010-1361-6. https://pubmed.ncbi.nlm.nih.gov/20107831/
4. He, Zi-Hong, Hu, Yang, Li, Yan-Chun, Ruiz, Jonatan R, Lucia, Alejandro. 2010. Polymorphisms in the calcineurin genes are associated with the training responsiveness of cardiac phenotypes in Chinese young adults. In European journal of applied physiology, 110, 761-7. doi:10.1007/s00421-010-1558-8. https://pubmed.ncbi.nlm.nih.gov/20593291/
5. He, Zi-Hong, Hu, Yang, Li, Yan-Chun, Ruiz, Jonatan R, Lucia, Alejandro. . Are calcineurin genes associated with athletic status? A function, replication study. In Medicine and science in sports and exercise, 43, 1433-40. doi:10.1249/MSS.0b013e31820e7f38. https://pubmed.ncbi.nlm.nih.gov/21233773/
6. Franke, Andre, Hampe, Jochen, Rosenstiel, Philip, Nürnberg, Peter, Schreiber, Stefan. 2007. Systematic association mapping identifies NELL1 as a novel IBD disease gene. In PloS one, 2, e691. doi:. https://pubmed.ncbi.nlm.nih.gov/17684544/