氨基酸变异: p.K700E 等位基因频率: 36% 缓冲液: Tris-EDTA(10 mM Tris-HCl, 1mM EDTA), pH 8.0 浓度: 50 ng/uL 总量: 1 ug 运输条件: 常温运输 储存: -20 ℃保存36个月 HyCyte™分子诊断标准品,基于肿瘤热门靶点,设置多种突变类型,适用于qPCR、一二三代测序等多种平台的性能评估。样本来源于人...
首页 / 癌基因 / SF3B1 / K700ESF3B1(splicing factor 3b subunit 1) 该基因编码剪接因子3b蛋白复合物的亚单位1。剪接因子3b与剪接因子3a和12s RNA单元一起形成u2小核核糖核蛋白复合物(u2 snrnp)。剪接因子3b/3a复合物以序列独立的方式结合内含子分支位点上游的pre-mRNA,并可能将u2 snrnp锚定到pre-mRNA。
RT-qPCR也观察到了XM COASY亚型的显著变化(p<0.01),而COASY的alpha亚型保持不变(图3B和图S1F)。 使用CRISPR/Cas9系统,作者将最常见的SF3B1杂合突变(K700E)引入到K562细胞系中(图4A)。这导致COASY的5'UTR错误剪接,完全复制了MDS-RS患者观察到的剪接模式,并重现了先前报道的其他错误剪接事件(图4B和图S2B-C)。
In addition, K700E mutant alters the RNA splicing of transcription factors TAL1 and GATA1. Via alternative RNA splicing, a novel short TAL1 transcript variant (TAL1s) is generated. Enhanced interaction between SF3B1 and RBM15 promotes the production of full-length TAL1 (TAL1fl) mRNA, while...
Re-expression of MAP3K7 in SF3B1K700E cells leads to a significant decrease in p-p65 in both the resting state and following LPS exposure. Additionally, restoration of MAP3K7 expression in SF3B1K700E cells results in partial rescue of cell clono- genicity [89]. These data suggest that ...
(3)MDS患 者中SF381基因突变:92例MDS患者检出5例(5.4%)SF381突变,均为杂合性, 包括3侈t]K700E、1例H662 江苏大学硕士学位论文 及难治性血细胞减少伴有多系发育异常和环状铁粒幼细胞(refractory cytopenia with multilineage dysplasia and ring sideroblasts,RCMD-RS)亚型(33%LP 2%, P=0.006);伴或不伴SF...
Thein vitrosensitivity to the most promising compounds (IS1 and IS4) was also assessed for the PDAC cell line Panc05.04 carrying two endogenous SF3B1 mutations: p.Q699H and p.K700E. Of note, these cells have a duplication time above 36 h and are therefore less suitable for the assessment...
21,22最常见的SF3B1突变Sf3b1(K700E)的条件敲入小鼠模型证实,Sf3b1(K700E)小鼠会出现大细胞性贫血、红系发育不良和长期造血干细胞扩增。23,24 SF3B1突变细胞中的RNA测序研究提供了证据表明,在SF3B1突变样品中选择性观察到的大多数异常剪接事件是由3′剪接位点的错误识别引起的,从而导致移码。16,25这些研究还表明...
SF3B1 mutations, including the K700E substitution which accounts for more than 50% of all mutations, are missense, heterozygous and cluster in a hotspot within the heat domain of the protein suggesting that they are gain-of-function variants. The molecular effects of SF3B1 mutations and the ...
Firstly, we studied K562 (myeloid leukemia) cells with the SF3B1 K700E mutation and isogenic SF3B1 K700K wildtype (WT) K562 cells. K562 cells with SF3B1 mutation showed a significant increase in the number of S9.6 foci [Fold change (FC) 2.01, p<0.001] and in the number of 纬-H2AX ...