Laboratorio di Biologia Molecolare, Scuola Normale Superiore, Area della Ricerca CNR, Pisa, Italy.
Nucleic Acids Res. 2010 Aug;38(14):e149. doi: 10.1093/nar/gkq486. Epub 2010 Jun 2.
The introduction of exogenous DNA in human somatic cells results in a frequency of random integration at least 100-fold higher than gene targeting (GT), posing a seemingly insurmountable limitation for gene therapy applications. We previously reported that, in human cells, the stable over-expression of the Saccharomyces cerevisiae Rad52 gene (yRAD52), which plays the major role in yeast homologous recombination (HR), caused an up to 37-fold increase in the frequency of GT, indicating that yRAD52 interacts with the double-strand break repair pathway(s) of human cells favoring homologous integration. In the present study, we tested the effect of the yRad52 protein by delivering it directly to the human cells. To this purpose, we fused the yRAD52 cDNA to the arginine-rich domain of the TAT protein of HIV (tat11) that is known to permeate the cell membranes. We observed that a recombinant yRad52tat11 fusion protein produced in Escherichia coli, which maintains its ability to bind single-stranded DNA (ssDNA), enters the cells and the nuclei, where it is able to increase both intrachromosomal recombination and GT up to 63- and 50-fold, respectively. Moreover, the non-homologous plasmid DNA integration decreased by 4-fold. yRAD52tat11 proteins carrying point mutations in the ssDNA binding domain caused a lower or nil increase in recombination proficiency. Thus, the yRad52tat11 could be instrumental to increase GT in human cells and a 'protein delivery approach' offers a new tool for developing novel strategies for genome modification and gene therapy applications.
将外源 DNA 引入人体体细胞会导致随机整合的频率至少比基因靶向(GT)高 100 倍,这似乎是基因治疗应用的一个无法逾越的限制。我们之前曾报道过,在人类细胞中,稳定过表达酿酒酵母 Rad52 基因(yRAD52),该基因在酵母同源重组(HR)中起主要作用,可使 GT 的频率增加 37 倍,这表明 yRAD52 与人类细胞的双链断裂修复途径相互作用,有利于同源整合。在本研究中,我们通过直接将 yRad52 蛋白递送到人类细胞中来测试其效果。为此,我们将 yRAD52 cDNA 与 HIV 的 TAT 蛋白的精氨酸丰富结构域融合(tat11),已知该结构域能够穿透细胞膜。我们观察到,在大肠杆菌中产生的 yRad52tat11 融合蛋白,保持其与单链 DNA(ssDNA)结合的能力,进入细胞和细胞核,在那里它能够分别将染色体内重组和 GT 提高 63 倍和 50 倍。此外,非同源质粒 DNA 整合减少了 4 倍。在 ssDNA 结合结构域中带有点突变的 yRAD52tat11 蛋白导致重组效率降低或为零。因此,yRad52tat11 可以提高人类细胞中的 GT,而“蛋白传递方法”为开发用于基因组修饰和基因治疗应用的新策略提供了新工具。