Department of Biological Sciences, National University of Singapore, Singapore.
Stem Cells Transl Med. 2013 Dec;2(12):935-45. doi: 10.5966/sctm.2013-0043. Epub 2013 Oct 28.
Integrative gene transfer using retroviruses to express reprogramming factors displays high efficiency in generating induced pluripotent stem cells (iPSCs), but the value of the method is limited because of the concern over mutagenesis associated with random insertion of transgenes. Site-specific integration into a preselected locus by engineered zinc-finger nuclease (ZFN) technology provides a potential way to overcome the problem. Here, we report the successful reprogramming of human fibroblasts into a state of pluripotency by baculoviral transduction-mediated, site-specific integration of OKSM (Oct3/4, Klf4, Sox2, and c-myc) transcription factor genes into the AAVS1 locus in human chromosome 19. Two nonintegrative baculoviral vectors were used for cotransduction, one expressing ZFNs and another as a donor vector encoding the four transcription factors. iPSC colonies were obtained at a high efficiency of 12% (the mean value of eight individual experiments). All characterized iPSC clones carried the transgenic cassette only at the ZFN-specified AAVS1 locus. We further demonstrated that when the donor cassette was flanked by heterospecific loxP sequences, the reprogramming genes in iPSCs could be replaced by another transgene using a baculoviral vector-based Cre recombinase-mediated cassette exchange system, thereby producing iPSCs free of exogenous reprogramming factors. Although the use of nonintegrating methods to generate iPSCs is rapidly becoming a standard approach, methods based on site-specific integration of reprogramming factor genes as reported here hold the potential for efficient generation of genetically amenable iPSCs suitable for future gene therapy applications.
利用逆转录病毒进行整合基因转移,表达重编程因子,在生成诱导多能干细胞 (iPSC) 方面显示出很高的效率,但由于担心转基因的随机插入会导致突变,该方法的价值受到限制。通过工程化锌指核酸酶 (ZFN) 技术将基因定点整合到预选的基因座中,为克服该问题提供了一种潜在的方法。在这里,我们通过杆状病毒转导介导的方法,成功地将人成纤维细胞重编程为多能状态,即将 OKSM(Oct3/4、Klf4、Sox2 和 c-myc)转录因子基因通过定点整合到人类 19 号染色体的 AAVS1 基因座中。我们使用了两种非整合性杆状病毒载体进行共转导,一种表达 ZFN,另一种作为供体载体,编码四个转录因子。iPSC 集落的获得效率很高,达到 12%(八个独立实验的平均值)。所有鉴定的 iPSC 克隆仅在 ZFN 指定的 AAVS1 基因座携带转基因盒。我们进一步证明,当供体盒被异源 loxP 序列侧翼时,iPSC 中的重编程基因可以使用基于杆状病毒载体的 Cre 重组酶介导的盒交换系统被另一个转基因替换,从而产生不含外源重编程因子的 iPSC。尽管使用非整合方法生成 iPSC 正在迅速成为一种标准方法,但如本文所述的基于基因定点整合的重编程因子的方法具有高效生成适合未来基因治疗应用的遗传可操作 iPSC 的潜力。