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

Abstract

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.

Parameters

Science
Study
Date
7 August 2020
People
Hirora, Kei-Ichi
Ishige, Taichiro
Kakoi, Hironaga
Kikuchi, Mio
Kusano, Kanichi
Nagata, Shun-Ichi
Nakamura, Kotono
Ohnuma, Aoi
Takasu, Masaki
Tamura, Norihisa
Tozaki, Teruaki
Country
Japan
Language
English
Other organisations
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
Substances
Erythropoietin (EPO)
Medical terms
Gene Therapy
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Abstract
Date generated
14 January 2021
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  • Analytical aspects
  • Doping classes
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  • Various
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