{"title":"Is mitochondrial tRNA Cys G5821A a deleterious mutation?","authors":"Lijuan Wei, Wengen Gao, Yafei Ma, Quanxing Cao, Xianfen Zhang","doi":"10.3109/19401736.2014.892107","DOIUrl":null,"url":null,"abstract":"<p><p>Although there are increasing reports showed a positive link between mitochondrial tRNACys G5821A mutation and mitochondrial diseases. However, its role remained controversial. In this paper, we took a comprehensive data analysis concerning this mutation and clinical diseases. Our data indicated that this mutation lacked an evolutionary conservation and did not get involved in the thermodynamic change of tRNACys gene. Therefore, based on these observations, we proposed that G5821A mutation is not deleterious mutation. </p>","PeriodicalId":49805,"journal":{"name":"Mitochondrial Dna","volume":" ","pages":"202-4"},"PeriodicalIF":0.0000,"publicationDate":"2015-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.3109/19401736.2014.892107","citationCount":"5","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Mitochondrial Dna","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3109/19401736.2014.892107","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2014/3/12 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 5
Abstract
Although there are increasing reports showed a positive link between mitochondrial tRNACys G5821A mutation and mitochondrial diseases. However, its role remained controversial. In this paper, we took a comprehensive data analysis concerning this mutation and clinical diseases. Our data indicated that this mutation lacked an evolutionary conservation and did not get involved in the thermodynamic change of tRNACys gene. Therefore, based on these observations, we proposed that G5821A mutation is not deleterious mutation.
期刊介绍：
Previously published under the title DNA Sequence (Vols 1-19.3), Mitochondrial DNA accepts original high-quality reports based on mapping, sequencing and analysis of mitochondrial DNA and RNA. Descriptive papers on DNA sequences from mitochondrial genomes, and also analytical papers in the areas of population genetics, medical genetics, phylogenetics and human evolution that use mitochondrial DNA as a source of evidence for studies will be considered for publication. The editorial board will also consider manuscripts that examine population genetic and systematic theory that specifically address the use of mitochondrial DNA sequences.
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