武汉大学殷昊团队近期取得重要的工作进展，他们研究提出了扩增编辑（AE），可以高效且精确地实现DNA从短序列到兆碱基和染色体规模的复制。相关研究成果2024年6月26日在线发表于《细胞》杂志上。

据介绍，复制是分子演化的基础，也是基因组和复杂疾病的驱动因素。

研究人员开发了一种名为扩增编辑（AE）的基因组编辑工具，该工具能够在染色体规模上精确地进行可编程的DNA复制。AE可以复制20 bp到100 Mb的人类基因组，其大小与人类染色体相当。AE在各种细胞类型中表现出活性，包括二倍体、单倍体和原代细胞。AE对1Mb的重复显示出高达73.0%的效率，对100Mb的重复分别显示出3.4%的效率。全基因组测序和编辑序列连接的深度测序证实了重复的准确性。AE可以在胚胎干细胞的疾病相关区域内产生染色体微重复，这表明它有可能产生细胞和动物模型。

总之，AE是染色体工程和DNA复制的精确有效工具，将精确基因组编辑的范围从单个遗传位点扩展到染色体规模。

附：英文原文

Title: Amplification editing enables efficient and precise duplication of DNA from short sequence to megabase and chromosomal scale

Author: Ruiwen Zhang, Zhou He, Yajing Shi, Xiangkun Sun, Xinyu Chen, Guoquan Wang, Yizhou Zhang, Pan Gao, Ying Wu, Shuhan Lu, Junyi Duan, Shangwu Sun, Na Yang, Wei Fan, Kaitao Zhao, Bei Yang, Yuchen Xia, Yan Zhang, Ying Zhang, Hao Yin

Issue&Volume: 2024-06-26

Abstract: Duplication is a foundation of molecular evolution and a driver of genomic and complexdiseases. Here, we develop a genome editing tool named Amplification Editing (AE)that enables programmable DNA duplication with precision at chromosomal scale. AEcan duplicate human genomes ranging from 20 bp to 100 Mb, a size comparable to humanchromosomes. AE exhibits activity across various cell types, encompassing diploid,haploid, and primary cells. AE exhibited up to 73.0% efficiency for 1 Mb and 3.4%for 100 Mb duplications, respectively. Whole-genome sequencing and deep sequencingof the junctions of edited sequences confirm the precision of duplication. AE cancreate chromosomal microduplications within disease-relevant regions in embryonicstem cells, indicating its potential for generating cellular and animal models. AEis a precise and efficient tool for chromosomal engineering and DNA duplication, broadeningthe landscape of precision genome editing from an individual genetic locus to thechromosomal scale.

DOI: 10.1016/j.cell.2024.05.056

Source: https://www.cell.com/cell/abstract/S0092-8674(24)00637-8