Sycp1(synaptonemal complex protein 1)基因编码的蛋白质是减数分裂前期同源染色体紧密配对过程中同源染色体复合体(SC)的关键组成部分。Sycp1蛋白与同源染色体复合体中的轴向元件(AE)相互作用,形成连接两个同源染色体轴向元件的横丝(TF),从而促进同源染色体间的联会和重组[6]。Sycp1基因的突变或缺失会导致精子发生阻滞,无法形成正常的精子细胞和精子,进而导致男性不育[1]。
Sycp1基因在哺乳动物生殖细胞中的表达受到严格的时空调控。研究发现,Sycp1基因的转录在减数分裂早期阶段开始,并在整个减数分裂过程中持续表达[3]。在雄性生殖细胞中,Sycp1基因的启动子区域含有能够驱动其在初级精母细胞中表达的顺式作用元件[3]。然而,Sycp1基因在雌性生殖细胞中的表达调控机制与雄性生殖细胞存在差异。研究发现,在雌性生殖细胞中,Sycp1基因的表达受到多个顺式作用元件的调控,而这些元件在雄性生殖细胞中并不活跃[3]。
除了Sycp1基因本身,其表达还受到其他基因和蛋白的调控。例如,研究发现,HSF5蛋白是一种睾丸特异性蛋白,能够与Sycp1基因的启动子区域结合,并调控其转录[2]。此外,KDM2A蛋白作为一种组蛋白去甲基化酶,能够调控Sycp1基因的表达,影响减数分裂的进程[4]。
Sycp1基因的表达还受到表观遗传调控的影响。研究发现,表观遗传药物5-aza-2'-deoxycytidine和trichostatin A能够上调Sycp1基因的表达,表明表观遗传机制在Sycp1基因的调控中发挥重要作用[5]。
综上所述,Sycp1基因在减数分裂过程中发挥重要作用,其表达受到严格的时空调控和表观遗传调控。Sycp1基因的突变或缺失会导致男性不育,而Sycp1基因的表达还受到其他基因和蛋白的调控,如HSF5和KDM2A。进一步研究Sycp1基因的功能和调控机制,有助于深入理解减数分裂的生物学过程,并为相关疾病的治疗和预防提供新的思路和策略。
参考文献:
1. Nabi, Soheila, Askari, Masomeh, Rezaei-Gazik, Maryam, Tahamtani, Yaser, Totonchi, Mehdi. . A rare frameshift mutation in SYCP1 is associated with human male infertility. In Molecular human reproduction, 28, . doi:10.1093/molehr/gaac009. https://pubmed.ncbi.nlm.nih.gov/35377450/
2. Luo, Chunhai, Xu, Haoran, Yu, Ziqi, Zhan, Junfeng, Sun, Fei. . Meiotic chromatin-associated HSF5 is indispensable for pachynema progression and male fertility. In Nucleic acids research, 52, 10255-10275. doi:10.1093/nar/gkae701. https://pubmed.ncbi.nlm.nih.gov/39162221/
3. Sage, J, Martin, L, Meuwissen, R, Cuzin, F, Rassoulzadegan, M. . Temporal and spatial control of the Sycp1 gene transcription in the mouse meiosis: regulatory elements active in the male are not sufficient for expression in the female gonad. In Mechanisms of development, 80, 29-39. doi:. https://pubmed.ncbi.nlm.nih.gov/10096061/
4. Feng, Shenglei, Gui, Yiqian, Yin, Shi, Jiang, Xiaohua, Yuan, Shuiqiao. 2024. Histone demethylase KDM2A recruits HCFC1 and E2F1 to orchestrate male germ cell meiotic entry and progression. In The EMBO journal, 43, 4197-4227. doi:10.1038/s44318-024-00203-4. https://pubmed.ncbi.nlm.nih.gov/39160277/
5. Almutairi, Mikhlid H, Alrubie, Turki M, Alshareeda, Alaa T, Almutairi, Bader O, Alanazi, Mohammad. 2024. Differential expression and regulation of ADAD1, DMRTC2, PRSS54, SYCE1, SYCP1, TEX101, TEX48, and TMPRSS12 gene profiles in colon cancer tissues and their in vitro response to epigenetic drugs. In PloS one, 19, e0307724. doi:10.1371/journal.pone.0307724. https://pubmed.ncbi.nlm.nih.gov/39208330/
6. de Vries, Femke A T, de Boer, Esther, van den Bosch, Mike, Heyting, Christa, Pastink, Albert. . Mouse Sycp1 functions in synaptonemal complex assembly, meiotic recombination, and XY body formation. In Genes & development, 19, 1376-89. doi:. https://pubmed.ncbi.nlm.nih.gov/15937223/