Application of base editing technique in the identification of functional sites of genes
10.3760/cma.j.cn511374-20241218-00666
- VernacularTitle:碱基编辑技术在基因功能位点鉴定中的应用
- Author:
Qianyun LI
1
;
Youlan WU
;
Jing YUAN
;
Fang LIU
;
Weisheng CHENG
Author Information
1. 安徽医科大学第一附属医院妇产科产前诊断中心，合肥 230022
- Publication Type:Journal Article
- Keywords:
Base editor;
Gene function identification;
High-throughput screening;
Gene editing technology;
CRISPR-Cas systems
- From:
Chinese Journal of Medical Genetics
2025;42(6):762-768
- CountryChina
- Language:Chinese
-
Abstract:
The exploration of pathogenic single nucleotide polymorphisms in the genome plays a pivotal role in the study of human disease-associated genetic mutations. However, there remains a lack of suitable high-throughput screening platforms to investigate the impact of point mutations on genomic structure and function. CRISPR/Cas9-mediated base editors has enabled large-scale annotation of the human genome and phenotypic characterization of monogenic genetic disorders. Base editors, a precise gene-editing technology capable of achieving targeted base substitutions, can be employed to induce mutations at specific functional sites, thereby observing their effects on gene expression, protein function, and cellular phenotypes. Furthermore, integrating base editors with high-throughput screening technologies allows for the large-scale evaluation of multiple candidate sites, accelerating the identification of functional loci and providing a powerful tool for disease research and therapeutic target discovery. This article aims to introduce the working principles of various base editors, including cytosine base editors, adenine base editors, and prime editors, and summarize recent advances in high-throughput screening of functional genomic sites using base-editing techniques.
