Taf1a-KO 基因敲除小鼠

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产品名称

Taf1a-KO 基因敲除小鼠

产品编号

S-KO-04912

品系全称

C57BL/6JCya-Taf1aem1/Cya

品系背景

C57BL/6JCya

品系编号

KOCMP-21339-Taf1a-B6J-VA

品系状态

使用本品系发表的文献需注明: Taf1a-KO 基因敲除小鼠 mice (Strain S-KO-04912) 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
TATA-box binding protein associated factor, RNA polymerase I, A
基因别称
TAFI48,mTAFI48
染色体号
Chr 1 (Mouse)
转录本 ID
NCBI: NM_001277959.1 | Ensembl: ENSMUST00000192076
修饰方式
全身性基因敲除
靶向范围
Exon 2~5
敲除长度
~9695 bp
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:109578Mice homozygous for a knock-out allele show complete embryonic lethality before implantation. In vitro outgrowth assays show that embryos fail to hatch from the zona pellucida and die after 3 days in culture, never forming blastocysts.
TAF1A(TBP相关因子1A)是一种在真核生物中普遍存在的基因,它编码的蛋白质是转录因子SL1的组成部分,SL1是RNA聚合酶I在启动子I类上启动rRNA合成的必需因子。TAF1A的编码产物在核糖体RNA的合成中发挥关键作用,是维持细胞核糖体生物合成和细胞生长的重要因子。此外,TAF1A还参与了基因表达的调控,它通过影响转录过程,参与调控细胞周期、细胞分化、发育等多种生物学过程。

在人类疾病中,TAF1A的突变与多种疾病的发生发展密切相关。例如,在宫颈癌的研究中,TAF1A与另一个基因ZBTB41被确定为潜在的生物标志物,它们之间的相互作用受到p53信号通路的影响[1]。在神经母细胞瘤的研究中,TAF1A被确定为一种高风险基因,其表达与不良预后密切相关[2]。此外,TAF1A的突变还与儿科心肌病、骨量减少、白内障等多种疾病的发生发展相关[3,4,5,6,7,8,9,10]。

在儿科心肌病的研究中,TAF1A的突变与婴儿限制性心肌病和扩张型心肌病的发生发展相关[3,4,6]。TAF1A的突变导致核糖体RNA合成障碍,进而影响心肌细胞的功能,导致心肌纤维化和心肌病的发生。在骨量减少的研究中,TAF1A的表达与骨代谢相关,其表达上调可能导致骨量减少的发生[5]。在白内障的研究中,TAF1A的突变与儿童白内障的发生相关[9]。

此外,TAF1A的突变还与胃癌和结直肠癌的发生发展相关[7]。在胃癌和结直肠癌的研究中,TAF1C基因的突变被发现,TAF1C是TAF1A的同源基因,也参与了RNA聚合酶I的转录过程。TAF1C的突变导致胃癌和结直肠癌的发生发展,其突变的发生具有区域异质性,这表明TAF1C的突变可能在肿瘤的发生发展中发挥了重要作用。

综上所述,TAF1A是一种重要的基因,其编码产物在核糖体RNA的合成和基因表达的调控中发挥关键作用。TAF1A的突变与多种疾病的发生发展密切相关,包括儿科心肌病、骨量减少、白内障、胃癌和结直肠癌等。这些研究结果表明,TAF1A在人类疾病的发生发展中发挥着重要作用,可能是疾病诊断和治疗的重要靶点。

参考文献:
1. Wang, Mingyuan, Liao, Jingnan, Wang, Jinjin, Wang, Kangkai, Wu, Wei. 2020. TAF1A and ZBTB41 serve as novel key genes in cervical cancer identified by integrated approaches. In Cancer gene therapy, 28, 1298-1311. doi:10.1038/s41417-020-00278-1. https://pubmed.ncbi.nlm.nih.gov/33311601/
2. Zhang, Liaoran, Mo, Jialin, Shi, Hao, Lv, Zhibao, Tan, Kezhe. 2024. CRISPR-Cas9 screening develops an epigenetic and transcriptional gene signature for risk stratification and target prediction in neuroblastoma. In Frontiers in cell and developmental biology, 12, 1433008. doi:10.3389/fcell.2024.1433008. https://pubmed.ncbi.nlm.nih.gov/39175876/
3. Jiang, Nan, Xu, Wenyuan, Abdelhakim, Aliaa, Naini, Ali, Ganapathi, Mythily. 2024. Biallelic potential disease-causing missense variants in TAF1A in two siblings with infantile restrictive cardiomyopathy. In European journal of medical genetics, 71, 104968. doi:10.1016/j.ejmg.2024.104968. https://pubmed.ncbi.nlm.nih.gov/39209150/
4. Long, Pamela A, Theis, Jeanne L, Shih, Yu-Huan, Xu, Xiaolei, Olson, Timothy M. . Recessive TAF1A mutations reveal ribosomopathy in siblings with end-stage pediatric dilated cardiomyopathy. In Human molecular genetics, 26, 2874-2881. doi:10.1093/hmg/ddx169. https://pubmed.ncbi.nlm.nih.gov/28472305/
5. Li, Qiuwei, Guo, Ruocheng, Wu, Zuomeng, Zhao, Chenhao, Shen, Cailiang. 2025. Key genes linking gut microbiota, immune cells, and osteoporosis: A multi-omics approach. In Microbial pathogenesis, 202, 107412. doi:10.1016/j.micpath.2025.107412. https://pubmed.ncbi.nlm.nih.gov/39993547/
6. Ter Bekke, Rachel M A, de Schouwer, Koen, Conti, Sergio, Helderman-van den Enden, Apollonia T J M, Brunner-LaRocca, Hans-Peter. 2023. Juvenile-onset multifocal atrial arrhythmias, atrial standstill and compound heterozygosity of genetic variants in TAF1A: sentinel event for evolving dilated cardiomyopathy-a case report. In European heart journal. Case reports, 7, ytad255. doi:10.1093/ehjcr/ytad255. https://pubmed.ncbi.nlm.nih.gov/37501913/
7. Oh, Hye Rim, An, Chang Hyeok, Yoo, Nam Jin, Lee, Sug Hyung. . Frameshift mutations of TAF1C gene, a core component for transcription by RNA polymerase I, and its regional heterogeneity in gastric and colorectal cancers. In Pathology, 47, 101-4. doi:10.1097/PAT.0000000000000212. https://pubmed.ncbi.nlm.nih.gov/25551296/
8. Di Pietro, C, Rapisarda, A, Amico, V, Grzeschik, K, Purrello, M. . Genomic localization of the human genes TAF1A, TAF1B and TAF1C, encoding TAF(I)48, TAF(I)63 and TAF(I)110 subunits of class I general transcription initiation factor SL1. In Cytogenetics and cell genetics, 89, 133-6. doi:. https://pubmed.ncbi.nlm.nih.gov/10894955/
9. Patel, Nisha, Anand, Deepti, Monies, Dorota, Lachke, Salil A, Alkuraya, Fowzan S. 2016. Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract. In Human genetics, 136, 205-225. doi:10.1007/s00439-016-1747-6. https://pubmed.ncbi.nlm.nih.gov/27878435/
10. Jin, Lipeng, Li, Chenyao, Liu, Tao, Wang, Lei. 2020. A potential prognostic prediction model of colon adenocarcinoma with recurrence based on prognostic lncRNA signatures. In Human genomics, 14, 24. doi:10.1186/s40246-020-00270-8. https://pubmed.ncbi.nlm.nih.gov/32522293/