Iars2-flox 基因敲除小鼠

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产品名称

Iars2-flox 基因敲除小鼠

产品编号

S-CKO-10923

品系全称

C57BL/6JCya-Iars2em1flox/Cya

品系背景

C57BL/6JCya

品系编号

CKOCMP-381314-Iars2-B6J-VA

品系状态

使用本品系发表的文献需注明: Iars2-flox 基因敲除小鼠 mice (Strain S-CKO-10923) were purchased from Cyagen.
交付类型
周龄
性别
基因型
数量
cKO小鼠库模型

基本信息

基因研究概述

质控标准

基因
基因全称
isoleucine-tRNA synthetase 2, mitochondrial
基因别称
2010002H18Rik
染色体号
Chr 1 (Mouse)
转录本 ID
NCBI: NM_198653 | Ensembl: ENSMUST00000027921
修饰方式
条件性基因敲除
靶向范围
Exon 3
敲除长度
~1.3 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
IARS2(异亮氨酰-tRNA合成酶2)是一种编码线粒体异亮氨酰-tRNA合成酶的基因。IARS2基因突变可导致多种线粒体疾病,如Leigh综合征、Leigh-like综合征、CAGSSS综合征(包括白内障、生长激素缺乏、感觉神经病、感觉神经性听力丧失和骨骼发育不良)等[4][5][7]。IARS2基因突变还可导致纯红细胞再生障碍性贫血和甲状旁腺功能减退[2]。

IARS2基因编码的异亮氨酰-tRNA合成酶参与蛋白质合成,该酶负责将异亮氨酸氨基酸与tRNA结合,形成异亮氨酰-tRNA复合物。这种复合物是蛋白质合成过程中必需的,因为它将遗传信息从DNA传递到蛋白质。IARS2基因突变会影响异亮氨酰-tRNA合成酶的功能,导致蛋白质合成障碍,进而引起多种线粒体疾病。

IARS2基因在多种癌症中也发挥重要作用。研究表明,IARS2基因在结肠癌、骨肉瘤和非小细胞肺癌中表达上调,且与不良预后相关[1][3][6]。IARS2基因的过表达可促进肿瘤细胞增殖、抑制细胞凋亡,并激活多种信号通路,如AKT/MTOR通路,进而促进肿瘤的发生和发展[1][3][6]。

IARS2基因还与其他疾病相关。研究表明,miR-215直接靶向SIGLEC-8,抑制Hirschsprung病的发生[8]。此外,IARS2基因的过表达可抑制结肠癌细胞的增殖和转移,而IARS2基因的敲低可促进结肠癌细胞增殖和转移[1]。

综上所述,IARS2基因在多种疾病中发挥重要作用,包括线粒体疾病、癌症和Hirschsprung病。IARS2基因突变可导致多种线粒体疾病,而IARS2基因的过表达可促进肿瘤的发生和发展。此外,IARS2基因还与其他疾病相关,如Hirschsprung病。IARS2基因的研究有助于深入理解多种疾病的发病机制,为疾病的治疗和预防提供新的思路和策略。

参考文献:
1. Zhong, Ling, Zhang, Yi, Yang, Jing-Yu, Zhao, Si-Hui, Chen, Jia-Yong. 2015. Expression of IARS2 gene in colon cancer and effect of its knockdown on biological behavior of RKO cells. In International journal of clinical and experimental pathology, 8, 12151-9. doi:. https://pubmed.ncbi.nlm.nih.gov/26722399/
2. Gong, Yan, Lan, Xiao Ping, Guo, Sheng. 2023. IARS2-related disease manifesting as sideroblastic anemia and hypoparathyroidism: A case report. In Frontiers in pediatrics, 10, 1080664. doi:10.3389/fped.2022.1080664. https://pubmed.ncbi.nlm.nih.gov/36704128/
3. Liu, Qi, Lin, Feng. 2022. Lentivirus-induced knockdown of IARS2 expression inhibits the proliferation and promotes the apoptosis of human osteosarcoma cells. In Oncology letters, 24, 262. doi:10.3892/ol.2022.13382. https://pubmed.ncbi.nlm.nih.gov/35765273/
4. Dong, Qiyu, Yin, Xiaojie, Fan, Shuanglong, Fang, Hezhi, Wang, Ya. 2024. IARS2 mutations lead to Leigh syndrome with a combined oxidative phosphorylation deficiency. In Orphanet journal of rare diseases, 19, 305. doi:10.1186/s13023-024-03310-x. https://pubmed.ncbi.nlm.nih.gov/39169373/
5. Upadia, Jariya, Li, Yuwen, Walano, Nicolette, Gajewski, Kelly, Andersson, Hans C. 2022. Genotype-phenotype correlation in IARS2-related diseases: A case report and review of literature. In Clinical case reports, 10, e05401. doi:10.1002/ccr3.5401. https://pubmed.ncbi.nlm.nih.gov/35228874/
6. Di, Xin, Jin, Xin, Ma, He, Li, Ranwei, Wang, Ke. 2019. The Oncogene IARS2 Promotes Non-small Cell Lung Cancer Tumorigenesis by Activating the AKT/MTOR Pathway. In Frontiers in oncology, 9, 393. doi:10.3389/fonc.2019.00393. https://pubmed.ncbi.nlm.nih.gov/31157169/
7. Watanabe, Masaki, Sasaki, Nobuya. 2024. Mechanisms and Future Research Perspectives on Mitochondrial Diseases Associated with Isoleucyl-tRNA Synthetase Gene Mutations. In Genes, 15, . doi:10.3390/genes15070894. https://pubmed.ncbi.nlm.nih.gov/39062673/
8. Lei, Hao, Li, Hongxing, Xie, Hua, Xia, Yankai, Tang, Weibing. 2016. Role of MiR-215 in Hirschsprung's Disease Pathogenesis by Targeting SIGLEC-8. In Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology, 40, 1646-1655. doi:10.1159/000453214. https://pubmed.ncbi.nlm.nih.gov/28006787/