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- W3101205983 startingPage "915" @default.
- W3101205983 abstract "Transposable elements (TEs) drive genome evolution and are a notable source of pathogenesis, including cancer. While CpG methylation regulates TE activity, the locus-specific methylation landscape of mobile human TEs has to date proven largely inaccessible. Here, we apply new computational tools and long-read nanopore sequencing to directly infer CpG methylation of novel and extant TE insertions in hippocampus, heart, and liver, as well as paired tumor and non-tumor liver. As opposed to an indiscriminate stochastic process, we find pronounced demethylation of young long interspersed element 1 (LINE-1) retrotransposons in cancer, often distinct to the adjacent genome and other TEs. SINE-VNTR-Alu (SVA) retrotransposons, including their internal tandem repeat-associated CpG island, are near-universally methylated. We encounter allele-specific TE methylation and demethylation of aberrantly expressed young LINE-1s in normal tissues. Finally, we recover the complete sequences of tumor-specific LINE-1 insertions and their retrotransposition hallmarks, demonstrating how long-read sequencing can simultaneously survey the epigenome and detect somatic TE mobilization." @default.
- W3101205983 created "2020-11-23" @default.
- W3101205983 creator A5004876604 @default.
- W3101205983 creator A5028570801 @default.
- W3101205983 creator A5040882194 @default.
- W3101205983 creator A5052769777 @default.
- W3101205983 creator A5057742020 @default.
- W3101205983 creator A5073178637 @default.
- W3101205983 creator A5080049483 @default.
- W3101205983 creator A5082645394 @default.
- W3101205983 date "2020-12-01" @default.
- W3101205983 modified "2023-10-16" @default.
- W3101205983 title "Nanopore Sequencing Enables Comprehensive Transposable Element Epigenomic Profiling" @default.
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