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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2019.1
- 수록면
- 87 - 95 (9page)
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Long interspersed element-1 (LINE-1 or L1) is an autonomous retrotransposon, which is capable of inserting into a newregion of genome. Previous studies have reported that these elements lead to genomic variations and altered functions byaffecting gene expression and genetic networks. Mounting evidence strongly indicates that genetic diseases or variouscancers can occur as a result of retrotransposition events that involve L1s. Therefore, the development of methodologies tostudy 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 candidatesthat could be inferred to carry non-reference L1Hs in a Korean individual genome (KPGP9). Among them, we randomlyselected 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 reproduciblein confirming the L1 insertions. Taken together, our findings strongly support that the identification of non-reference L1Hsby our novel target enrichment method demonstrates its future application to genomic variation studies on the risk of cancer and genetic disorders.
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참고문헌 (39)
참고문헌 신청
Selvam Ayarpadikannan / 2014 / The Impact of Transposable Elements in Genome Evolution and Genetic Instability and Their Implications in Various Diseases / Genomics & Informatics 12(3):98
Badge, R. M. / 2003 / ATLAS : a system to selectively identify human-specific L1 insertions / Am. J. Hum. Genet 72:823~838
Beck, C. R. / 2010 / LINE-1 retrotransposition activity in human genomes / Cell 141:1159~1170
Beck, C. R. / 2011 / LINE-1 elements in structural variation and disease / Annu. Rev. Genomics. Hum. Genet 12:187~215
Bennett, E. A. / 2008 / Active Alu retrotransposons in the human genome / Genome. Res 18:1875~1883
Badge, R. M. / 2003 / ATLAS : a system to selectively identify human-specific L1 insertions / Am. J. Hum. Genet 72:823~838
Beck, C. R. / 2010 / LINE-1 retrotransposition activity in human genomes / Cell 141:1159~1170
Beck, C. R. / 2011 / LINE-1 elements in structural variation and disease / Annu. Rev. Genomics. Hum. Genet 12:187~215
Bennett, E. A. / 2008 / Active Alu retrotransposons in the human genome / Genome. Res 18:1875~1883
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