Spata18-KO 基因敲除小鼠

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产品名称

Spata18-KO 基因敲除小鼠

产品编号

S-KO-19994

品系全称

C57BL/6JCya-Spata18em1/Cya

品系背景

C57BL/6JCya

品系编号

KOCMP-73472-Spata18-B6J-VB

品系状态

使用本品系发表的文献需注明: Spata18-KO 基因敲除小鼠 mice (Strain S-KO-19994) were purchased from Cyagen.
交付类型
周龄
性别
基因型
数量

基本信息

基因研究概述

质控标准

基因
基因全称
spermatogenesis associated 18
基因别称
1700067I02Rik,Mieap
染色体号
Chr 5 (Mouse)
转录本 ID
NCBI: NM_178387 | Ensembl: ENSMUST00000071077
修饰方式
全身性基因敲除
靶向范围
Exon 6~7
敲除长度
~1.9 kb
品系说明
该品系是基于策略设计时的数据库信息制作而成,建议您在购买前查询最新的数据库和相关文献,以获取最准确的表型信息。
表型提示
MGI:1920722Homo- or heterozygous KO in mice also carrying one copy of the ApcMin allele leads to increased intestinal adenoma and adenocarcinoma tumor incidence and size. This double mutation and homozygous KO of the gene alone results in lower internal mitochondrial cristae density in small intestinal mucosal epithelium.
Spata18,也称为精子发生相关蛋白18或MIEAP(Mitochondria-eating protein),是一种与精子发生相关的基因。Spata18编码的蛋白质位于精子的中段,与外致密纤维相关的卫星纤维中,参与了精子线粒体的质量和功能调控。Spata18的异常表达与精子活力下降和男性不育相关[1]。

Spata18基因的表达受到多种转录因子的调控。例如,p53和p63可以转录激活Spata18的表达,p53通过结合Spata18基因的第一个内含子中的DNA元件来调控其转录[2]。此外,ZNF558也是一种转录因子,在人类大脑发育过程中调控Spata18的表达。ZNF558的表达受到顺式作用结构变异的调控,这种变异在人类和黑猩猩之间存在差异,影响了人类大脑的进化[4]。

Spata18基因的异常表达与多种疾病相关。在男性不育中,Spata18的表达下调与精子活力下降相关,可以作为诊断精子活力的标志物[1]。在乳腺癌中,Spata18的表达下调与p53突变的乳腺癌患者的预后不良相关[5]。此外,Spata18的表达下调还与心脏疾病、肾细胞癌和银屑病等疾病相关[3,7,8]。

Spata18基因的异常表达可能与磷酸化修饰有关。例如,在马精子的冷冻过程中,SPATA18的磷酸化水平显著降低,表明磷酸化修饰可能参与了Spata18的调控[6]。此外,Spata18的磷酸化修饰可能还受到其他信号通路的影响,例如PKCβ和GSK3β等激酶的调控[6]。

综上所述,Spata18是一种重要的与精子发生相关的基因,其表达受到多种转录因子的调控。Spata18的异常表达与多种疾病相关,包括男性不育、乳腺癌、心脏疾病、肾细胞癌和银屑病等。Spata18的磷酸化修饰可能参与了其功能的调控。深入研究Spata18的生物学功能和调控机制,有助于理解其在疾病发生发展中的作用,并为相关疾病的治疗和预防提供新的思路和策略[1,2,3,4,5,6,7,8]。

参考文献:
1. Panahi, Alireza, Mirza Ahmadi, Sina, Asaadi Tehrani, Golnaz. 2022. Comparison between SPATA18 and P53 Gene Expressions in The Sperm Cells Obtained from Normospermic and Asthenospermic Samples: A Case-Control Study. In International journal of fertility & sterility, 16, 122-127. doi:10.22074/IJFS.2021.138190.1029. https://pubmed.ncbi.nlm.nih.gov/35639655/
2. Bornstein, Chamutal, Brosh, Ran, Molchadsky, Alina, Sarig, Rachel, Rotter, Varda. 2011. SPATA18, a spermatogenesis-associated gene, is a novel transcriptional target of p53 and p63. In Molecular and cellular biology, 31, 1679-89. doi:10.1128/MCB.01072-10. https://pubmed.ncbi.nlm.nih.gov/21300779/
3. Lingui, Xie, Weifeng, Liu, Yufei, Wang, Yibin, Zhou. 2023. High SPATA18 Expression and its Diagnostic and Prognostic Value in Clear Cell Renal Cell Carcinoma. In Medical science monitor : international medical journal of experimental and clinical research, 29, e938474. doi:10.12659/MSM.938474. https://pubmed.ncbi.nlm.nih.gov/36751118/
4. Johansson, Pia A, Brattås, Per Ludvik, Douse, Christopher H, Eichler, Evan E, Jakobsson, Johan. 2021. A cis-acting structural variation at the ZNF558 locus controls a gene regulatory network in human brain development. In Cell stem cell, 29, 52-69.e8. doi:10.1016/j.stem.2021.09.008. https://pubmed.ncbi.nlm.nih.gov/34624206/
5. Futamura, Manabu, Tokumaru, Yoshihisa, Takabe, Kazuaki, Nakakami, Akira, Yoshida, Kazuhiro. 2021. MIEAP, a p53-downstream gene, is associated with suppression of breast cancer cell proliferation and better survival. In American journal of cancer research, 11, 6060-6073. doi:. https://pubmed.ncbi.nlm.nih.gov/35018242/
6. Gaitskell-Phillips, Gemma, Martín-Cano, Francisco E, da Silva-Álvarez, Eva, Ortega-Ferrusola, Cristina, Peña, Fernando J. . Phosphoproteomics for the identification of new mechanisms of cryodamage: the role of SPATA18 in the control of stallion sperm function†. In Biology of reproduction, 108, 324-337. doi:10.1093/biolre/ioac211. https://pubmed.ncbi.nlm.nih.gov/36468681/
7. Gu, Xiaolian, Nylander, Elisabet, Coates, Philip J, Nylander, Karin. . Oxidation reduction is a key process for successful treatment of psoriasis by narrow-band UVB phototherapy. In Acta dermato-venereologica, 95, 140-6. doi:10.2340/00015555-1905. https://pubmed.ncbi.nlm.nih.gov/24909845/
8. Becker, Benjamin V, Majewski, Matthäus, Abend, Michael, Port, Matthias, Ullmann, Reinhard. 2018. Gene expression changes in human iPSC-derived cardiomyocytes after X-ray irradiation. In International journal of radiation biology, 94, 1095-1103. doi:10.1080/09553002.2018.1516908. https://pubmed.ncbi.nlm.nih.gov/30247079/