DC Field | Value | Language |
---|---|---|
dc.contributor.advisor | 주영석 | - |
dc.contributor.author | Nam, Chang Hyun | - |
dc.contributor.author | 남창현 | - |
dc.date.accessioned | 2024-08-08T19:31:30Z | - |
dc.date.available | 2024-08-08T19:31:30Z | - |
dc.date.issued | 2024 | - |
dc.identifier.uri | http://library.kaist.ac.kr/search/detail/view.do?bibCtrlNo=1099374&flag=dissertation | en_US |
dc.identifier.uri | http://hdl.handle.net/10203/322126 | - |
dc.description | 학위논문(박사) - 한국과학기술원 : 의과학대학원, 2024.2,[v, 54 p. :] | - |
dc.description.abstract | Throughout an individual's lifetime, genomic alterations accumulate in somatic cells. However, the mutational landscape induced by retrotransposition of long interspersed nuclear element-1 (L1), a widespread mobile element in the human genome, is poorly understood in normal cells. Here I explored the whole-genome sequences of 899 single-cell clones established from three different cell types collected from 28 individuals. I identified 1,708 somatic L1 retrotransposition events that were enriched in colorectal epithelium and showed a positive relationship with age. Fingerprinting of source elements showed 34 retrotransposition-competent L1s. Multidimensional analysis demonstrated that (1) somatic L1 retrotranspositions occur from early embryogenesis at a substantial rate, (2) epigenetic on/off of a source element is preferentially determined in the early organogenesis stage, (3) retrotransposition-competent L1s with a lower population allele frequency have higher retrotransposition activity and (4) only a small fraction of L1 transcripts in the cytoplasm are finally retrotransposed in somatic cells. Analysis of matched cancers further suggested that somatic L1 retrotransposition rate is substantially increased during colorectal tumorigenesis. In summary, this study illustrates L1 retrotransposition-induced somatic mosaicism in normal cells and provides insights into the genomic and epigenomic regulation of transposable elements over the human lifetime. | - |
dc.language | eng | - |
dc.publisher | 한국과학기술원 | - |
dc.subject | 유전체학▼a이동성 유전인자▼a체세포 돌연변이▼a구조적 변이▼a후성유전체학 | - |
dc.subject | Genomics▼aMobile element▼aSomatic mutation▼aStructural variation▼aEpigenomics | - |
dc.title | Widespread somatic L1 retrotransposition in normal Colorectal Epithelium | - |
dc.title.alternative | 정상 대장 상피세포에서의 L1 이동성 유전인자 활성 분석 | - |
dc.type | Thesis(Ph.D) | - |
dc.identifier.CNRN | 325007 | - |
dc.description.department | 한국과학기술원 :의과학대학원, | - |
dc.contributor.alternativeauthor | Ju, Young Seok | - |
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