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Aminoacyl-tRNA synthetases (aaRSs) are crucial translational components. Mitochondrial aaRS variants cause various human diseases. However, the pathogenesis of the vast majority of these diseases remains unknown. Here, we identified two novel SARS2 (encoding mitochondrial seryl-tRNA synthetase) variants that cause a multisystem disorder. c.654\u201314T\u00a0&amp;gt;\u00a0A mutation induced mRNA mis-splicing, generating a peptide insertion in the active site; c.1519dupC swapped a critical tRNA-binding motif in the C-terminus due to stop codon readthrough. Both mutants exhibited severely diminished tRNA binding and aminoacylation capacities. A marked reduction in mitochondrial tRNASer(AGY) was observed due to RNA degradation in patient-derived induced pluripotent stem cells (iPSCs), causing impaired translation and comprehensive mitochondrial function deficiencies. These impairments were efficiently rescued by wild-type SARS2 overexpression. Either mutation caused early embryonic fatality in mice. Heterozygous mice displayed reduced muscle tissue-specific levels of tRNASers. Our findings elucidated the biochemical and cellular consequences of impaired translation mediated by SARS2, suggesting that reduced abundance of tRNASer(AGY) is a key determinant for development of SARS2-related diseases.<\/jats:p>","DOI":"10.1093\/nar\/gkac1028","type":"journal-article","created":{"date-parts":[[2022,10,21]],"date-time":"2022-10-21T10:26:19Z","timestamp":1666347979000},"page":"11755-11774","source":"Crossref","is-referenced-by-count":22,"title":["Selective degradation of tRNASer(AGY) is the primary driver for mitochondrial seryl-tRNA synthetase-related disease"],"prefix":"10.1093","volume":"50","author":[{"given":"Tingting","family":"Yu","sequence":"first","affiliation":[{"name":"Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Key Laboratory of Clinical Molecular Diagnostics for Pediatrics, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University , 1678 Dong Fang Road, Shanghai 200127 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Key Laboratory of Clinical Molecular Diagnostics for Pediatrics, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University , 1678 Dong Fang Road, Shanghai 200127 , China"},{"name":"State Key Laboratory of Molecular Biology, CAS Center for Excellence in Molecular Cell Science, Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, University of Chinese Academy of Sciences , 320 Yue Yang Road, Shanghai 200031 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen-Qiang","family":"Zheng","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Molecular Biology, CAS Center for Excellence in Molecular Cell Science, Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, University of Chinese Academy of Sciences , 320 Yue Yang Road, Shanghai 200031 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siqi","family":"Wu","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Bioorganic and Natural Products Chemistry, Center for Excellence in Molecular Synthesis, Shanghai Institute of Organic Chemistry, University of Chinese Academy of Sciences, Chinese Academy of Sciences , 345 Lingling Road, Shanghai 200032 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guoqiang","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Key Laboratory of Clinical Molecular Diagnostics for Pediatrics, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University , 1678 Dong Fang Road, Shanghai 200127 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong","family":"Zhang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Molecular Biology, CAS Center for Excellence in Molecular Cell Science, Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, University of Chinese Academy of Sciences , 320 Yue Yang Road, Shanghai 200031 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niu","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Key Laboratory of Clinical Molecular Diagnostics for Pediatrics, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University , 1678 Dong Fang Road, Shanghai 200127 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruen","family":"Yao","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Key Laboratory of Clinical Molecular Diagnostics for Pediatrics, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University , 1678 Dong Fang Road, Shanghai 200127 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3448-5494","authenticated-orcid":false,"given":"Pengfei","family":"Fang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Bioorganic and Natural Products Chemistry, Center for Excellence in Molecular Synthesis, Shanghai Institute of Organic Chemistry, University of Chinese Academy of Sciences, Chinese Academy of Sciences , 345 Lingling Road, Shanghai 200032 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3391-5250","authenticated-orcid":false,"given":"Jian","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Key Laboratory of Clinical Molecular Diagnostics for Pediatrics, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University , 1678 Dong Fang Road, Shanghai 200127 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3701-5965","authenticated-orcid":false,"given":"Xiao-Long","family":"Zhou","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Molecular Biology, CAS Center for Excellence in Molecular Cell Science, Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, University of Chinese Academy of Sciences , 320 Yue Yang Road, Shanghai 200031 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2022,11,9]]},"reference":[{"key":"2022120608403462300_B1","doi-asserted-by":"crossref","first-page":"1327","DOI":"10.1161\/CIRCRESAHA.111.258723","article-title":"Mitochondrial fusion is essential for 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Sci."},{"key":"2022120608403462300_B27","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1186\/s12920-019-0647-8","article-title":"Genome analysis and knowledge-driven variant interpretation with TGex","volume":"12","author":"Dahary","year":"2019","journal-title":"BMC Med. Genomics"},{"key":"2022120608403462300_B28","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1186\/s13287-018-0908-z","article-title":"Optimizing the method for generation of integration-free induced pluripotent stem cells from human peripheral blood","volume":"9","author":"Gu","year":"2018","journal-title":"Stem Cell Res. 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