Ubash3a-flox 基因敲除小鼠

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产品名称

Ubash3a-flox 基因敲除小鼠

产品编号

S-CKO-10589

品系全称

C57BL/6JCya-Ubash3aem1flox/Cya

品系背景

C57BL/6JCya

品系编号

CKOCMP-328795-Ubash3a-B6J-VA

品系状态

使用本品系发表的文献需注明: Ubash3a-flox 基因敲除小鼠 mice (Strain S-CKO-10589) 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
ubiquitin associated and SH3 domain containing, A
基因别称
5830413C03Rik,C330001M22,Sts-2,TULA,TULA-1
染色体号
Chr 17 (Mouse)
转录本 ID
NCBI: NM_177823 | Ensembl: ENSMUST00000236745
修饰方式
条件性基因敲除
靶向范围
Exon 3
敲除长度
~0.7 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:1926074Homozygous null mice are viable and healthy with no abnormalities detected in any of the hematopoietic lineages.
UBASH3A基因,全称为Ubiquitin Associated and SH3 Domain Containing A基因,编码的蛋白UBASH3A是一个含有SH3结构域的蛋白质,SH3结构域是一种介导蛋白质间相互作用的模块。UBASH3A蛋白在细胞信号传导中发挥着重要的作用,特别是在T细胞受体(TCR)信号传导途径中,它作为TCR信号通路的负调节因子,参与调控免疫反应的强度和持续时间。UBASH3A的突变或表达异常可能与多种自身免疫性疾病的发生发展有关。

UBASH3A基因的突变或表达异常在多种自身免疫性疾病中被发现与疾病的易感性相关。例如,在类风湿性关节炎(RA)患者中,UBASH3A基因的某些单核苷酸多态性(SNPs)被发现与RA的易感性相关[1]。在系统性红斑狼疮(SLE)患者中,UBASH3A基因的SNPs也与SLE的易感性相关,并可能影响疾病的临床表型[4][10]。此外,UBASH3A基因的SNPs还被发现与特应性皮炎(AD)的易感性相关[3]。然而,在自身免疫性甲状腺疾病(AITD)患者中,UBASH3A基因的SNPs与疾病的发生没有显著关联[8]。

UBASH3A基因的突变或表达异常可能通过多种机制影响疾病的易感性。例如,在RA患者中,UBASH3A基因的表达水平在CD4+ T细胞中降低,导致T细胞受体信号传导异常,进而导致炎症因子如IL-6的产生增加[2]。在SLE患者中,UBASH3A基因的SNPs可能与疾病的特定表型相关,如皮肤皮疹、口腔溃疡和关节炎[4]。在AD患者中,UBASH3A基因的SNPs可能与AD的易感性相关[3]。此外,UBASH3A基因的SNPs还可能通过抑制TCR诱导的NF-κB信号传导途径,影响1型糖尿病(T1D)的易感性[9]。

综上所述,UBASH3A基因在自身免疫性疾病的发生发展中发挥着重要的作用。UBASH3A基因的突变或表达异常可能导致T细胞受体信号传导途径的异常,进而影响免疫反应的强度和持续时间,最终导致自身免疫性疾病的发生。因此,UBASH3A基因可能是一个潜在的自身免疫性疾病的治疗靶点。然而,关于UBASH3A基因在自身免疫性疾病中的作用机制以及UBASH3A基因突变或表达异常与疾病易感性之间的关系,仍需要进一步的研究来阐明[1-10]。

参考文献:
1. Yang, Xiao-Ke, Liu, Juan, Chen, Shan-Yu, Li, Mu, Zhang, Ming-Ming, Leng, Rui-Xue, Pan, Hai-Feng, Shen, Yuan, Liu, Wen-Xue, Xu, Sheng-Qian, Ye, Dong-Qing, Shuai, Zong-Wen. '2019. 'UBASH3A gene polymorphisms and expression profile in rheumatoid arthritis.' In Autoimmunity, 52, 21-26. doi:10.1080/08916934.2019.1581773.https://pubmed.ncbi.nlm.nih.gov/30822156/
2. Yamagata, Kaoru, Nakayamada, Shingo, Zhang, Tong, Nguyen, Anh Phuong, Ohkubo, Naoaki, Iwata, Shigeru, Kato, Shigeaki, Tanaka, Yoshiya. '2022. 'IL-6 production through repression of UBASH3A gene via epigenetic dysregulation of super-enhancer in CD4+ T cells in rheumatoid arthritis.' In Inflammation and regeneration, 42, 46. doi:10.1186/s41232-022-00231-9.https://pubmed.ncbi.nlm.nih.gov/36324153/
3. Li, Y, Cheng, H, Xiao, F-L, Liang, B, Zhou, F-S, Li, P, Zheng, X-D, Sun, L-D, Yang, S, Zhang, X-J. '2017. 'Association of UBASH3A gene polymorphism and atopic dermatitis in the Chinese Han population.' In Genes and immunity, 18, 158-162. doi:10.1038/gene.2017.15.https://pubmed.ncbi.nlm.nih.gov/28747736/
4. Liu, Jie, Liu, Juan, Ni, Jing, Leng, Rui Xue, Pan, Hai Feng, Ye, Dong Qing. '2015. 'Association of UBASH3A gene polymorphisms and systemic lupus erythematosus in a Chinese population.' In Gene, 565, 116-21. doi:10.1016/j.gene.2015.04.005.https://pubmed.ncbi.nlm.nih.gov/25843625/
5. Yamagata, Kaoru, Nakayamada, Shingo, Zhang, Tong, Nguyen, Anh Phuong, Ohkubo, Naoaki, Iwata, Shigeru, Kato, Shigeaki, Tanaka, Yoshiya. '2022. 'Correction: IL-6 production through repression of UBASH3A gene via epigenetic dysregulation of super-enhancer in CD4+ T cells in rheumatoid arthritis.' In Inflammation and regeneration, 42, 57. doi:10.1186/s41232-022-00246-2.https://pubmed.ncbi.nlm.nih.gov/36461050/
6. Ji, Sun-Gou, Juran, Brian D, Mucha, Sören, Folseraas, Trine, Jostins, Luke, Melum, Espen, Kumasaka, Natsuhiko, Atkinson, Elizabeth J, Schlicht, Erik M, Liu, Jimmy Z, Shah, Tejas, Gutierrez-Achury, Javier, Boberg, Kirsten M, Bergquist, Annika, Vermeire, Severine, Eksteen, Bertus, Durie, Peter R, Farkkila, Martti, Müller, Tobias, Schramm, Christoph, Sterneck, Martina, Weismüller, Tobias J, Gotthardt, Daniel N, Ellinghaus, David, Braun, Felix, Teufel, Andreas, Laudes, Mattias, Lieb, Wolfgang, Jacobs, Gunnar, Beuers, Ulrich, Weersma, Rinse K, Wijmenga, Cisca, Marschall, Hanns-Ulrich, Milkiewicz, Piotr, Pares, Albert, Kontula, Kimmo, Chazouillères, Olivier, Invernizzi, Pietro, Goode, Elizabeth, Spiess, Kelly, Moore, Carmel, Sambrook, Jennifer, Ouwehand, Willem H, Roberts, David J, Danesh, John, Floreani, Annarosa, Gulamhusein, Aliya F, Eaton, John E, Schreiber, Stefan, Coltescu, Catalina, Bowlus, Christopher L, Luketic, Velimir A, Odin, Joseph A, Chopra, Kapil B, Kowdley, Kris V, Chalasani, Naga, Manns, Michael P, Srivastava, Brijesh, Mells, George, Sandford, Richard N, Alexander, Graeme, Gaffney, Daniel J, Chapman, Roger W, Hirschfield, Gideon M, de Andrade, Mariza, Rushbrook, Simon M, Franke, Andre, Karlsen, Tom H, Lazaridis, Konstantinos N, Anderson, Carl A. '2016. 'Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease.' In Nature genetics, 49, 269-273. doi:10.1038/ng.3745.https://pubmed.ncbi.nlm.nih.gov/27992413/
7. Wang, Jie, Wang, Chunlin, Hu, Anling, Yu, Kunlin, Kuang, Yi, Gajendran, Babu, Zacksenhaus, Eldad, Sample, Klarke Michael, Xiao, Xiao, Liu, Wuling, Ben-David, Yaacov. '2024. 'FLI1 induces erythroleukemia through opposing effects on UBASH3A and UBASH3B expression.' In BMC cancer, 24, 326. doi:10.1186/s12885-024-12075-2.https://pubmed.ncbi.nlm.nih.gov/38461240/
8. Cai, TianTian, Wang, Xuan, Muhali, Fatuma-Said, Song, RongHua, Shi, XiaoHong, Jiang, WenJuan, Xiao, Ling, Li, DanFeng, Zhang, JinAn. '. 'Lack of association between polymorphisms in the UBASH3A gene and autoimmune thyroid disease: a case control study.' In Arquivos brasileiros de endocrinologia e metabologia, 58, 640-5. doi:.https://pubmed.ncbi.nlm.nih.gov/25211447/
9. Ge, Yan, Paisie, Taylor K, Newman, Jeremy R B, McIntyre, Lauren M, Concannon, Patrick. '2017. 'UBASH3A Mediates Risk for Type 1 Diabetes Through Inhibition of T-Cell Receptor-Induced NF-κB Signaling.' In Diabetes, 66, 2033-2043. doi:10.2337/db16-1023.https://pubmed.ncbi.nlm.nih.gov/28607106/
10. Diaz-Gallo, Lina-Marcela, Sánchez, Elena, Ortego-Centeno, Norberto, Sabio, Jose Mario, García-Hernández, Francisco J, de Ramón, Enrique, González-Gay, Miguel A, Anders, Hans-Joachim, González-Escribano, María F, Martin, Javier. '2013. 'Evidence of new risk genetic factor to systemic lupus erythematosus: the UBASH3A gene.' In PloS one, 8, e60646. doi:10.1371/journal.pone.0060646.https://pubmed.ncbi.nlm.nih.gov/23565265/