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J Law Biosci. 2018 Jan 18;5(1):35-83. doi: 10.1093/jlb/lsx043. eCollection 2018 May.
3
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Oncol Lett. 2018 Feb;15(2):2441-2450. doi: 10.3892/ol.2017.7605. Epub 2017 Dec 13.
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Stem Cells Int. 2017;2017:8960236. doi: 10.1155/2017/8960236. Epub 2017 Dec 25.
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Molecular biology at the cutting edge: A review on CRISPR/CAS9 gene editing for undergraduates.前沿分子生物学:面向本科生的CRISPR/CAS9基因编辑综述
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Correction of β-thalassemia mutant by base editor in human embryos.利用碱基编辑器在人类胚胎中校正β-地中海贫血突变体。
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临床实践中的基因编辑:我们目前处于什么阶段?

Gene Editing in Clinical Practice: Where are We?

作者信息

Mittal Rama Devi

机构信息

Department of Urology and Renal Transplantation, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareli Road, Lucknow, Uttar Pradesh 226014 India.

出版信息

Indian J Clin Biochem. 2019 Jan;34(1):19-25. doi: 10.1007/s12291-018-0804-4. Epub 2019 Jan 1.

DOI:10.1007/s12291-018-0804-4
PMID:30728669
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6346614/
Abstract

Multitude of gene-altering capabilities in combination with ease of design and low cost have all led to the adoption of the sophisticated and yet simple gene editing system that are clustered regularly interspaced short palindromic repeats (CRISPR)-associated protein 9 (CRISPR). The CRISPR/Cas9 system holds promise for the correction of deleterious mutations by taking advantage of the homology directed repair pathway and by supplying a correction template to the affected patient's cells. CRISPR is a tool that allows researchers to edit genes very precisely, easily and quickly. It does this by harnessing a mechanism that already existed in bacteria. Basically, there's a protein that acts like a scissors and cuts the DNA, and there's an RNA molecule that directs the scissors to any point on the genome one wants which results basically a word processor for genes. An entire gene can be taken out, put one in, or even edit just a single letter within a gene. Several platforms for molecular scissors that enable targeted genome engineering have been developed, including zinc-finger nucleases, transcription activator-like effector nucleases and, most recently, CRISPR/CRISPR-associated-9 (Cas9). The CRISPR/Cas9 system's simplicity, facile engineering and amenability to multiplexing make it the system of choice for many applications. CRISPR/Cas9 has been used to generate disease models to study genetic diseases. Improvements are urgently needed for various aspects of the CRISPR/Cas9 system, including the system's precision, delivery and control over the outcome of the repair process. However, there are still some glitches to be mended like how to regulate gene drives and its safeguards. The creation of gene knockouts is one of the first and most widely used applications of the CRISPR-Cas9 system. Nuclease-active Cas9 creates a double-strand break at the single guide RNA-targeted locus. These breaks can be repaired by homologous recombination, which can be used to introduce new mutations. When the double-strand break is repaired by the error-prone nonhomologous end joining process, indels are introduced which can produce frame shifts and stop codons, leading to functional knockout of the gene. Precedence modification have to be done on mechanism of CRISPR/Cas9, including its biochemical and structural implications incorporating the latest improvements in the CRISPR/Cas9 system, especially Cas9 protein modifications for customization. Current applications, where the versatile CRISPR/Cas9 system is to be used to edit the genome, epigenome, or RNA of various organisms is debated. Although CRISPR/Cas9 allows convenient genome editing accompanied by many benefits, one should not ignore the significant ethical and biosafety concerns that it raises. Conclusively lot of prospective applications and challenges of several promising techniques adapted from CRISPR/Cas9. Is discussed. Although many mechanistic questions remain to be answered and several challenges to be addressed yet, the use of CRISPR-Cas9-based genome technologies will increase our knowledge of disease process and their treatment in near future. Undoubtedly this field is revolutionizing in current era and may open new vistas in the treatment of fatal genetic disease.

摘要

基因编辑能力多样,设计简便且成本低廉,这些因素共同促使一种复杂而又简单的基因编辑系统——规律成簇间隔短回文重复序列(CRISPR)相关蛋白9(CRISPR)被广泛采用。CRISPR/Cas9系统有望通过利用同源定向修复途径并为受影响患者的细胞提供校正模板来纠正有害突变。CRISPR是一种工具,使研究人员能够非常精确、轻松且快速地编辑基因。它通过利用细菌中已存在的一种机制来实现这一点。基本上,有一种蛋白质就像一把剪刀切割DNA,还有一个RNA分子将这把剪刀引导到基因组上人们想要的任何位置,这基本上就形成了一个基因文字处理器。整个基因可以被移除、插入一个新基因,甚至可以只编辑基因中的单个字母。已经开发了几种用于靶向基因组工程的分子剪刀平台,包括锌指核酸酶、转录激活样效应物核酸酶,以及最近的CRISPR/CRISPR相关蛋白9(Cas9)。CRISPR/Cas9系统的简单性、易于工程化和适用于多重化使其成为许多应用的首选系统。CRISPR/Cas9已被用于生成疾病模型以研究遗传疾病。CRISPR/Cas9系统的各个方面都迫切需要改进,包括系统的精度、递送以及对修复过程结果的控制。然而,仍然存在一些需要解决的小问题比如如何调节基因驱动及其保障措施。基因敲除的创建是CRISPR - Cas9系统最早且应用最广泛的应用之一。核酸酶活性的Cas9在单导向RNA靶向位点产生双链断裂。这些断裂可以通过同源重组进行修复,可用于引入新的突变。当双链断裂通过易错的非同源末端连接过程进行修复时,会引入插入缺失,这可能导致移码和终止密码子,从而导致基因的功能敲除。必须对CRISPR/Cas9的机制进行优先改进,包括其生化和结构影响,纳入CRISPR/Cas9系统的最新改进,特别是用于定制的Cas9蛋白修饰。关于在当前应用中,多功能的CRISPR/Cas9系统用于编辑各种生物体的基因组、表观基因组或RNA存在争议。尽管CRISPR/Cas9允许方便的基因组编辑并带来许多好处,但人们不应忽视它引发的重大伦理和生物安全问题。最后讨论了从CRISPR/Cas9改编的几种有前景技术的许多潜在应用和挑战。尽管许多机制问题仍有待解答,还有几个挑战有待解决,但基于CRISPR - Cas9的基因组技术的使用将在不久的将来增加我们对疾病过程及其治疗的了解。毫无疑问,这个领域在当前时代正在发生变革,可能会为致命遗传疾病的治疗开辟新的前景。