Mol. Cells 2018; 41(): 953  https://doi.org/10.14348/molcells.2018.0351
Novel Discovery of LINE-1 in a Korean Individual by a Target Enrichment Method
Wonseok Shin1, Seyoung Mun1, Junse Kim1, Wooseok Lee1, Dong-Guk Park2, Seungkyu Choi3, Tae Yoon Lee4, Seunghee Cha5, and Kyudong Han1,*
1Department of Nanobiomedical Science & BK21 PLUS NBM Global Research Center for Regenerative Medicine, Dankook University, Cheonan 31116, Korea, 2Department of Surgery, 3Department of Pathology, Dankook University College of Medicine, Cheonan 31116, Korea, 4Department of Technology Education and Department of Biomedical Engineering, Chungnam National University, Daejeon 34134, Korea, 5Department of Oral and Maxillofacial Diagnostic Sciences, University of Florida College of Dentistry, Gainesville, FL 32610, USA
Received August 17, 2018; Revised October 10, 2018; Accepted October 26, 2018.; Published online December 6, 2018.
© Korean Society for Molecular and Cellular Biology. All rights reserved.

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ABSTRACT
Long interspersed element-1 (LINE-1 or L1) is an autonomous retrotransposon, which is capable of inserting into a new
region of genome. Previous studies have reported that these elements lead to genomic variations and altered functions by
affecting gene expression and genetic networks. Mounting evidence strongly indicates that genetic diseases or various
cancers can occur as a result of retrotransposition events that involve L1s. Therefore, the development of methodologies to
study the structural variations and interpersonal insertion polymorphisms by L1 element-associated changes in an individual genome is invaluable. In this study, we applied a systematic approach to identify human-specific L1s (i.e., L1Hs)
through the bioinformatics analysis of high-throughput nextgeneration sequencing data. We identified 525 candidates
that could be inferred to carry non-reference L1Hs in a Korean individual genome (KPGP9). Among them, we randomly
selected 40 candidates and validated that approximately 92.5% of non-reference L1Hs were inserted into a KPGP9 genome. In addition, unlike conventional methods, our relatively simple and expedited approach was highly reproducible
in confirming the L1 insertions. Taken together, our findings strongly support that the identification of non-reference L1Hs
by our novel target enrichment method demonstrates its future application to genomic variation studies on the risk of cancer and genetic disorders. 
Keywords:
L1Hs, long interspersed elements-1, non-reference L1 screening, target enrichment system

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