한빛사 논문
Hyunji Lee1,3, Seonghyun Lee1,3, Gayoung Baek1, Annie Kim1,2, Beum-Chang Kang1, Huiyun Seo1 & Jin-Soo Kim1,2,*
1Center for Genome Engineering, Institute for Basic Science, Daejeon, Republic of Korea. 2Department of Chemistry, Seoul National University, Seoul, Republic of Korea.
3These authors contributed equally: Hyunji Lee, Seonghyun Lee.
*Corresponding author
Abstract
DddA-derived cytosine base editors (DdCBEs), composed of the split interbacterial toxin DddAtox, transcription activator-like effector (TALE), and uracil glycosylase inhibitor (UGI), enable targeted C-to-T base conversions in mitochondrial DNA (mtDNA). Here, we demonstrate highly efficient mtDNA editing in mouse embryos using custom-designed DdCBEs. We target the mitochondrial gene, MT-ND5 (ND5), which encodes a subunit of NADH dehydrogenase that catalyzes NADH dehydration and electron transfer to ubiquinone, to obtain several mtDNA mutations, including m.G12918A associated with human mitochondrial diseases and m.C12336T that incorporates a premature stop codon, creating mitochondrial disease models in mice and demonstrating a potential for the treatment of mitochondrial disorders.
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