Tfpt-KO 基因敲除小鼠

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产品名称

Tfpt-KO 基因敲除小鼠

产品编号

S-KO-13162

品系全称

C57BL/6JCya-Tfptem1/Cya

品系背景

C57BL/6JCya

品系编号

KOCMP-69714-Tfpt-B6J-VA

品系状态

使用本品系发表的文献需注明: Tfpt-KO 基因敲除小鼠 mice (Strain S-KO-13162) 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
TCF3 (E2A) fusion partner
基因别称
2400004F01Rik,Amida,FB1
染色体号
Chr 7 (Mouse)
转录本 ID
NCBI: NM_001290381 | Ensembl: ENSMUST00000108641
修饰方式
全身性基因敲除
靶向范围
Exon 3
敲除长度
~0.1 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
TFPT(TCF3融合伴侣)基因位于人类19号染色体上,编码一个在细胞凋亡中起关键作用的蛋白质。TFPT基因在多种生物学过程中发挥作用,包括细胞增殖、分化、凋亡和白血病发生。TFPT基因与TCF3(E2A)基因相互作用,在儿童急性淋巴细胞白血病(ALL)的发生发展中发挥重要作用。

TFPT基因的表达受多种转录因子的调控。研究发现,TFPT基因的启动子区域具有TATA-less的特征,并且对Ikaros 2和PU.1等转录因子具有响应性。这些转录因子在B细胞分化和白血病发生中发挥重要作用,提示TFPT基因的表达可能受到这些转录因子的调控[2]。

TFPT基因的突变和表达异常与多种疾病相关。在儿童急性淋巴细胞白血病中,TFPT基因与TCF3基因发生融合,形成TFPT-TCF3融合蛋白,导致白血病的发生[2]。此外,TFPT基因的突变还与视网膜色素变性(adRP)的发生有关[1,5,6,9]。在adRP患者中,TFPT基因的表达水平可能受到影响,导致疾病的进展。

TFPT基因的调控机制复杂,可能受到多种因素的调控。研究发现,TFPT基因的启动子区域存在多个功能多态性,这些多态性可能影响TFPT基因的表达水平[1]。此外,TFPT基因的表达还可能受到组蛋白修饰和SUMO化等表观遗传机制的调控[8]。

综上所述,TFPT基因在多种生物学过程中发挥重要作用,其表达受多种因素的调控。TFPT基因的突变和表达异常与多种疾病相关,包括白血病和视网膜色素变性。深入研究TFPT基因的调控机制和功能,有助于揭示相关疾病的发病机制,为疾病的治疗和预防提供新的思路和策略。

参考文献:
1. Rose, Anna M, Shah, Amna Z, Waseem, Naushin H, Koenekoop, Robert K, Bhattacharya, Shomi S. 2012. Expression of PRPF31 and TFPT: regulation in health and retinal disease. In Human molecular genetics, 21, 4126-37. doi:10.1093/hmg/dds242. https://pubmed.ncbi.nlm.nih.gov/22723017/
2. Brambillasca, F, Mosna, G, Ballabio, E, Boulukos, K E, Privitera, E. . Promoter analysis of TFPT (FB1), a molecular partner of TCF3 (E2A) in childhood acute lymphoblastic leukemia. In Biochemical and biophysical research communications, 288, 1250-7. doi:. https://pubmed.ncbi.nlm.nih.gov/11700047/
3. Rose, Anna M, Shah, Amna Z, Alfano, Giovanna, Krishna, Abhay, Bhattacharya, Shomi S. . A Study into the Evolutionary Divergence of the Core Promoter Elements of PRPF31 and TFPT. In Journal of molecular and genetic medicine : an international journal of biomedical research, 7, . doi:. https://pubmed.ncbi.nlm.nih.gov/25729402/
4. Franchini, Chiara, Fontana, Floriana, Minuzzo, Mario, Babbio, Federica, Privitera, Enrica. . Apoptosis promoted by up-regulation of TFPT (TCF3 fusion partner) appears p53 independent, cell type restricted and cell density influenced. In Apoptosis : an international journal on programmed cell death, 11, 2217-24. doi:. https://pubmed.ncbi.nlm.nih.gov/17041757/
5. Lan, Yuanzheng, Chen, Yuhong, Qiao, Yunsheng, Wu, Jihong, Chen, Xueli. 2022. A 69 kb Deletion in chr19q13.42 including PRPF31 Gene in a Chinese Family Affected with Autosomal Dominant Retinitis Pigmentosa. In Journal of clinical medicine, 11, . doi:10.3390/jcm11226682. https://pubmed.ncbi.nlm.nih.gov/36431159/
6. Abu-Safieh, Leen, Vithana, Eranga N, Mantel, Irmela, Bird, Alan C, Bhattacharya, Shomi S. 2006. A large deletion in the adRP gene PRPF31: evidence that haploinsufficiency is the cause of disease. In Molecular vision, 12, 384-8. doi:. https://pubmed.ncbi.nlm.nih.gov/16636657/
7. Rivera, Alejandra A, Aballay-González, Ambbar, Gonçalves, Ana Teresa, Gallardo, Juan José, Astuya-Villalón, Allisson. 2021. Search for potential biomarkers for saxitoxin detection. In Toxicology in vitro : an international journal published in association with BIBRA, 72, 105092. doi:10.1016/j.tiv.2021.105092. https://pubmed.ncbi.nlm.nih.gov/33440187/
8. Cox, Eric, Hwang, Woochang, Uzoma, Ijeoma, Zhu, Heng, Blackshaw, Seth. 2017. Global Analysis of SUMO-Binding Proteins Identifies SUMOylation as a Key Regulator of the INO80 Chromatin Remodeling Complex. In Molecular & cellular proteomics : MCP, 16, 812-823. doi:10.1074/mcp.M116.063719. https://pubmed.ncbi.nlm.nih.gov/28254775/
9. Rose, Anna M, Mukhopadhyay, Rajarshi, Webster, Andrew R, Bhattacharya, Shomi S, Waseem, Naushin H. 2011. A 112 kb deletion in chromosome 19q13.42 leads to retinitis pigmentosa. In Investigative ophthalmology & visual science, 52, 6597-603. doi:10.1167/iovs.11-7861. https://pubmed.ncbi.nlm.nih.gov/21715351/