Syce1,也称为Synaptonemal complex central element 1,是合子复合体(SC)中心元件1蛋白的编码基因。SC是减数分裂过程中的重要结构,负责同源染色体配对和交换重组。Syce1蛋白是SC的组成部分,在确保染色体正确配对和重组方面发挥着关键作用。Syce1的突变会影响SC的形成和功能,导致减数分裂异常,从而引发生殖系统功能障碍。
非梗阻性无精子症(NOA)是男性不育的常见原因,其特点是睾丸中无成熟精子。有研究报道,在NOA患者中,Syce1基因存在突变,导致Syce1蛋白表达异常和核定位异常,进而干扰SC的组装,影响精子的形成[1]。此外,Syce1基因的突变还与原发性卵巢功能不全(POI)相关,POI是一种卵巢疾病,导致卵巢功能提前衰竭,引起不育[2,3,4,5]。Syce1基因的突变会影响SC的形成和功能,导致染色体配对和重组异常,从而影响卵子的形成。
Syce1基因的突变还会影响睾丸间质细胞和Leydig细胞中甾体激素的合成。有研究表明,Syce1和Syce3蛋白可以促进睾酮和二氢睾酮的合成,从而调节生殖系统的发育和功能[6]。Syce1和Syce3的过表达或沉默可以激活或抑制甾体激素合成相关基因的表达,进而影响甾体激素的合成和分泌。
综上所述,Syce1基因在减数分裂、生殖系统发育和甾体激素合成等方面发挥着重要作用。Syce1基因的突变会影响SC的形成和功能,导致染色体配对和重组异常,进而引发生殖系统功能障碍,包括NOA和POI。Syce1基因的研究有助于深入理解生殖系统疾病的发病机制,为疾病的治疗和预防提供新的思路和策略。
参考文献:
1. Feng, Ke, Ge, Hengtao, Chen, Huanhuan, Guo, Haibin, Zhang, Lei. 2022. Novel exon mutation in SYCE1 gene is associated with non-obstructive azoospermia. In Journal of cellular and molecular medicine, 26, 1245-1252. doi:10.1111/jcmm.17180. https://pubmed.ncbi.nlm.nih.gov/35023261/
2. Qin, Yingying, Jiao, Xue, Simpson, Joe Leigh, Chen, Zi-Jiang. 2015. Genetics of primary ovarian insufficiency: new developments and opportunities. In Human reproduction update, 21, 787-808. doi:10.1093/humupd/dmv036. https://pubmed.ncbi.nlm.nih.gov/26243799/
3. Pashaei, Mahdieh, Rahimi Bidgoli, Mohammad Masoud, Zare-Abdollahi, Davood, Fatehi, Farzad, Alavi, Afagh. 2020. The second mutation of SYCE1 gene associated with autosomal recessive nonobstructive azoospermia. In Journal of assisted reproduction and genetics, 37, 451-458. doi:10.1007/s10815-019-01660-1. https://pubmed.ncbi.nlm.nih.gov/31916078/
4. França, Monica Malheiros, Mendonca, Berenice Bilharinho. 2021. Genetics of ovarian insufficiency and defects of folliculogenesis. In Best practice & research. Clinical endocrinology & metabolism, 36, 101594. doi:10.1016/j.beem.2021.101594. https://pubmed.ncbi.nlm.nih.gov/34794894/
5. Zhe, Jing, Ye, Desheng, Chen, Xin, Zhang, Jun, Chen, Shiling. 2020. Consanguineous Chinese Familial Study Reveals that a Gross Deletion that Includes the SYCE1 Gene Region Is Associated with Premature Ovarian Insufficiency. In Reproductive sciences (Thousand Oaks, Calif.), 27, 461-467. doi:10.1007/s43032-019-00037-0. https://pubmed.ncbi.nlm.nih.gov/31925770/
6. Wang, Qi, Yan, Qiu, Nan, Jinghong, Zhang, Yong, Zhao, Xingxu. 2022. Syce1 and Syce3 regulate testosterone and dihydrotestosterone synthesis via steroidogenic pathways in mouse Sertoli and Leydig cells. In The Journal of steroid biochemistry and molecular biology, 223, 106135. doi:10.1016/j.jsbmb.2022.106135. https://pubmed.ncbi.nlm.nih.gov/35697131/