Kato Tomoko, Takada Shuji
Brief Funct Genomics. 2017 Jan;16(1):13-24. doi: 10.1093/bfgp/elw031. Epub 2016 Aug 6.
In the past few years, extensive progress has been made in the development of genome-editing technology. Among several genome-editing tools, the clustered regularly interspaced short palindrome repeat-associated Cas9 nuclease (CRISPR/Cas9) system is particularly widely used owing to the ease of sequence-specific nuclease construction and the highly efficient introduction of mutations. The CRISPR/Cas9 system was originally constructed to induce small insertion and deletion mutations, but various methods have been developed to introduce point mutations, deletions, insertions, chromosomal translocations and so on. These methods should be useful for the reconstruction of disease-causing mutations in cultured cell lines and living organisms to elucidate disease pathogenesis and for disease prevention, treatment and drug discovery. This review summarizes the current technical aspects of the CRISPR/Cas9 system for disease modeling in cultured cells and living organisms, mainly mice.
在过去几年中，基因组编辑技术的发展取得了长足的进步。在几种基因组编辑工具中，成簇规律间隔短回文重复序列相关的Cas9核酸酶（CRISPR/Cas9）系统因其易于构建序列特异性核酸酶以及高效引入突变而被特别广泛地使用。CRISPR/Cas9系统最初是为诱导小的插入和缺失突变而构建的，但已经开发出了各种方法来引入点突变、缺失、插入、染色体易位等。这些方法对于在培养细胞系和活生物体中重建致病突变以阐明疾病发病机制以及疾病预防、治疗和药物发现应该是有用的。本综述总结了CRISPR/Cas9系统在培养细胞和活生物体（主要是小鼠）中进行疾病建模的当前技术方面。
