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Correction of the pathogenic mutation in TGM1 gene by adenine base editing in mutant embryos.

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机构： [1]Department of Obstetrics and Gynecology, Center of Reproductive Medicine, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third AffiliatedHospital of Guangzhou Medical University, Guangzhou, China [2]Key Laboratory for Reproductive Medicine of Guangdong Province, The Third Affiliated Hospital ofGuangzhou Medical University, Guangzhou, China [3]Department of Reproductive Center, Shuguang Hospital Affiliated to Shanghai University of Traditional ChineseMedicine, Shanghai 201203, China [4]Gene Editing Center, School of Life Science and Technology, ShanghaiTech University, Shanghai 201210, China

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A couple diagnosed as the carrier for Lamellar ichthyosis, an autosomal recessive rare disease, encountered two times pregnancy losses. Their blood samples showed the same heterozygous c.607C> T mutation in the TGM1 gene. However, we found about 98.4% of the sperm had mutations, suggesting possible de novo germline mutation. To explore the probability of correcting this mutation, we used two different adenine base editors combined with related truncated sgRNA to repair the pathogenic mutation in mutant zygotes. Our results showed the editing efficiency was 73.8% for ABEmax-NG combined with 20 bp-length sgRNA, and 78.7% for Sc-ABEmax combined with 19 bp-length sgRNA. The whole-genome sequencing and deep sequencing analysis demonstrated precise DNA editing. This study reveals the possibility of correcting the genetic mutation in embryos with the ABE system. Copyright © 2021. Published by Elsevier Inc.

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出版当年[2021]版：

大类 | 1 区

医学

小类 | 1 区生物工程与应用微生物 1 区遗传学 1 区医学：研究与实验

最新[2025]版：

大类 | 1 区

医学

小类 | 1 区生物工程与应用微生物 1 区遗传学 1 区医学：研究与实验

第一作者：

第一作者机构： [1]Department of Obstetrics and Gynecology, Center of Reproductive Medicine, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third AffiliatedHospital of Guangzhou Medical University, Guangzhou, China

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通讯作者：

通讯机构： [1]Department of Obstetrics and Gynecology, Center of Reproductive Medicine, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third AffiliatedHospital of Guangzhou Medical University, Guangzhou, China [2]Key Laboratory for Reproductive Medicine of Guangdong Province, The Third Affiliated Hospital ofGuangzhou Medical University, Guangzhou, China [3]Department of Reproductive Center, Shuguang Hospital Affiliated to Shanghai University of Traditional ChineseMedicine, Shanghai 201203, China [4]Gene Editing Center, School of Life Science and Technology, ShanghaiTech University, Shanghai 201210, China [*1]Department of Reproductive Center, Shuguang Hospital Affiliated to Shanghai University of Traditional Chinese Medicine, Shanghai 201203, China. [*2]Department of Obstetrics and Gynecology, Center of Reproductive Medicine, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, China. [*3]Gene Editing Center, School of Life Science and Technology, ShanghaiTech University, Shanghai 201210, China.

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