Long-read sequencing unveils high-resolution HPV integration and its oncogenic progression in cervical cancer.
Liyuan ZhouQiongzi QiuQing ZhouJianwei LiMengqian YuKezhen LiLingling XuXiaohui KeHai-Ming XuBingjian LuHui WangWei-Guo LvPengyuan LiuYan LuPublished in: Nature communications (2022)
Integration of human papillomavirus (HPV) DNA into the human genome is considered as a key event in cervical carcinogenesis. Here, we perform comprehensive characterization of large-range virus-human integration events in 16 HPV16-positive cervical tumors using the Nanopore long-read sequencing technology. Four distinct integration types characterized by the integrated HPV DNA segments are identified with Type B being particularly notable as lacking E6/E7 genes. We further demonstrate that multiple clonal integration events are involved in the use of shared breakpoints, the induction of inter-chromosomal translocations and the formation of extrachromosomal circular virus-human hybrid structures. Combined with the corresponding RNA-seq data, we highlight LINC00290, LINC02500 and LENG9 as potential driver genes in cervical cancer. Finally, we reveal the spatial relationship of HPV integration and its various structural variations as well as their functional consequences in cervical cancer. These findings provide insight into HPV integration and its oncogenic progression in cervical cancer.
Keyphrases
- high grade
- single cell
- rna seq
- endothelial cells
- single molecule
- high resolution
- genome wide
- long non coding rna
- induced pluripotent stem cells
- cervical cancer screening
- pluripotent stem cells
- cell proliferation
- dna methylation
- transcription factor
- cell free
- circulating tumor
- long noncoding rna
- mass spectrometry
- big data
- deep learning
- liquid chromatography
- bioinformatics analysis