Identification of Multiple Forms of RNA Transcripts Associated with Human-Specific Retrotransposed Gene Copies
Autor: | Shun Inagaki, Shunsuke Suzuki, Masaaki Hayashi, Hiroshi Fujii, Ken Tateishi, Saori Mori, Takuji Oshima |
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Rok vydání: | 2016 |
Předmět: |
0301 basic medicine
Genetics Untranslated region Regulation of gene expression Retroelements Three prime untranslated region Pseudogene Reverse Transcription Biology Genome Gene Expression Regulation Neoplastic 03 medical and health sciences 030104 developmental biology CpG site Cell Line Tumor Humans CpG Islands Human genome RNA Messenger Promoter Regions Genetic 3' Untranslated Regions Gene Ecology Evolution Behavior and Systematics Research Article |
Zdroj: | Genome Biology and Evolution |
ISSN: | 1759-6653 |
DOI: | 10.1093/gbe/evw156 |
Popis: | The human genome contains thousands of retrocopies, mostly as processed pseudogenes, which were recently shown to be prevalently transcribed. In particular, those specifically acquired in the human lineage are able to modulate gene expression in a manner that contributed to the evolution of human-specific traits. Therefore, knowledge of the human-specific retrocopies that are transcribed or their full-length transcript structure contributes to better understand human genome evolution. In this study, we identified 16 human-specific retrocopies that harbor 5′ CpG islands by in silico analysis and showed that 12 were transcribed in normal tissues and cancer cell lines with a variety of expression patterns, including cancer-specific expression. Determination of the structure of the transcripts associated with the retrocopies revealed that none were transcribed from their 5′ CpG islands, but rather, from inside the 3′ UTR and the nearby 5′ flanking region of the retrocopies as well as the promoter of neighboring genes. The multiple forms of the transcripts, such as chimeric and individual transcripts in both the sense and antisense orientation, might have introduced novel post-transcriptional regulation into the genome during human evolution. These results shed light on the potential role of human-specific retrocopies in the evolution of gene regulation and genomic disorders. |
Databáze: | OpenAIRE |
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