Savy Adrien, Dickx Yohann, Nauwynck Lucile, Bonnin Delphine, Merten Otto-Wilhelm, Galibert Lionel
1 Research and Development , Généthon, Evry, France .
2 Université d'Evry Val-d'Essonne , Evry, France .
Hum Gene Ther Methods. 2017 Oct;28(5):277-289. doi: 10.1089/hgtb.2016.133.
Adeno-associated virus (AAV) inverted terminal repeats (ITRs) are key elements of AAV. These guanine-cytosine-rich structures are involved in the replication and encapsidation of the AAV genome, along with its integration in and excision from the host genome. These sequences are the only AAV-derived DNA sequences conserved in recombinant AAV (rAAV), as they allow its replication, encapsidation, and long-term maintenance and expression in target cells. Due to the original vector design, plasmids containing the gene of interest flanked by ITRs and used for rAAV production often present incomplete, truncated, or imperfect ITR sequences. For example, pSUB201 and its derivatives harbor a truncated (14 nt missing on the external part of the ITR), flop-orientated ITR plus 46 bp of non-ITR viral DNA at each end of the rAAV genome. It has been shown that rAAV genomes can be replicated, even with incomplete, truncated, or imperfect ITR sequences, leading to the production of rAAV vectors in transfection experiments. Nonetheless, it was hypothesized that unmodified wild-type (WT) ITR sequences could lead to a higher yield of rAAV, with less non-rAAV encapsidated DNA originating from the production cells and/or baculovirus shuttle vector genomes. This work studied the impact of imperfect ITRs on the level of encapsidated rAAV genomes and baculovirus-derived DNA sequences using the baculovirus/Sf9 cells production system. Replacement of truncated ITRs with WT and additional wtAAV2 sequences has an impact on the two major features of rAAV production: (1) a rise from 10% to 40% of full capsids obtained, and (2) up to a 10-fold reduction in non-rAAV encapsidated DNA. Furthermore, this study considered the impact on these major parameters of additional ITR elements and ITRs coupled with various regulatory elements of different origins. Implementation of the use of complete ITRs in the frame of the baculovirus-based rAAV expression system is one step that will be required to optimize the quality of rAAV-based gene therapy drugs.
腺相关病毒(AAV)反向末端重复序列(ITR)是AAV的关键元件。这些富含鸟嘌呤 - 胞嘧啶的结构参与AAV基因组的复制、衣壳化,以及其在宿主基因组中的整合和切除。这些序列是重组腺相关病毒(rAAV)中唯一保守的源自AAV的DNA序列,因为它们允许其在靶细胞中复制、衣壳化以及长期维持和表达。由于最初的载体设计,用于rAAV生产的、含有位于ITR两侧的目的基因的质粒,其ITR序列往往不完整、截短或存在缺陷。例如,pSUB201及其衍生物在rAAV基因组的两端各有一个截短的(ITR外部缺失14个核苷酸)、反向排列的ITR以及46 bp的非ITR病毒DNA。研究表明,即使ITR序列不完整、截短或存在缺陷,rAAV基因组也能复制,从而在转染实验中产生rAAV载体。尽管如此,有人推测未修饰的野生型(WT)ITR序列可能会导致rAAV产量更高,且源自生产细胞和/或杆状病毒穿梭载体基因组的非rAAV衣壳化DNA更少。本研究利用杆状病毒/Sf9细胞生产系统,研究了不完美ITR对衣壳化rAAV基因组水平和杆状病毒衍生DNA序列的影响。用野生型和额外的野生型AAV2序列替换截短的ITR,对rAAV生产的两个主要特征有影响:(1)获得的完整衣壳从10%增加到40%,(2)非rAAV衣壳化DNA减少多达10倍。此外,本研究还考虑了额外的ITR元件以及与不同来源的各种调控元件偶联的ITR对这些主要参数的影响。在基于杆状病毒的rAAV表达系统框架内实施完整ITR的使用,是优化基于rAAV的基因治疗药物质量所需的一个步骤。