Detection of non-targeted transgenes by whole-genome resequencing for gene-doping control

Detection of non-targeted transgenes by whole-genome resequencing for gene-doping control / Teruaki Tozaki, Aoi Ohnuma, Masaki Takasu, Kotono Nakamura, Mio Kikuchi, Taichiro Ishige, Hironaga Kakoi, Kei-Ichi Hirora, Norihisa Tamura, Kanichi Kusano, Shun-Ichi Nagata. - (Gene Therapy (2020) 7 August)

  • PMID: 32770095
  • DOI: 10.1038/s41434-020-00185-y


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 the EPO transgene 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 the EPO transgene 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.


Research / Study
7 August 2020
Hirora, Kei-Ichi
Ishige, Taichiro
Kakoi, Hironaga
Kikuchi, Mio
Kusano, Kanichi
Nagata, Shun-Ichi
Nakamura, Kotono
Ohnuma, Aoi
Takasu, Masaki
Tamura, Norihisa
Tozaki, Teruaki
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Gifu University
Japan Racing Association (JRA)
Laboratory of Racing Chemistry (LRC)
Analytical aspects
Testing method development
Doping classes
M3. Gene And Cell Doping
S2. Peptide Hormones, Growth Factors
Erythropoietin (EPO)
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Gene Therapy
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Date generated
14 January 2021
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