期刊
GENE THERAPY
卷 28, 期 3-4, 页码 199-205出版社
SPRINGERNATURE
DOI: 10.1038/s41434-020-00185-y
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类别
资金
- Japan Racing Association
This study aimed to detect genetically engineered animals for gene-doping control using whole-genome resequencing techniques, successfully identifying transgenes as intron deletions. By conducting genome-wide screening, artificially introduced single-nucleotide polymorphisms and insertions/deletions in transgenes were identified.
Gene doping has raised concerns in human and equestrian sports and the horseracing industry. There are two possible types of gene doping in the sports and racing industry: (1) administration of a gene-doping substance to postnatal animals and (2) generation of genetically engineered animals by modifying eggs. In this study, we aimed to identify genetically engineered animals by whole-genome resequencing (WGR) for gene-doping control. Transgenic cell lines, in which the erythropoietin gene (EPO) cDNA form was inserted into the genome of horse fibroblasts, were constructed as a model of genetically modified horse. Genome-wide screening of non-targeted transgenes was performed to find structural variation using DELLY based on split-read and paired-end algorithms and Control-FREEC based on read-depth algorithm. We detected theEPOtransgene as an intron deletion in the WGR data by the split-read algorithm of DELLY. In addition, single-nucleotide polymorphisms and insertions/deletions artificially introduced in theEPOtransgene were identified by WGR. Therefore, genome-wide screening using WGR can contribute to gene-doping control even if the targets are unknown. This is the first study to detect transgenes as intron deletions for gene-doping detection.
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