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- W4308303334 abstract "Abstract Background Human endogenous retroviruses (HERVs), the remnants of ancient retroviruses, account for 8% of the human genome, but most have lost their transcriptional abilities under physiological conditions. However, mounting evidence shows that several expressed HERVs do exert biological functions. Here, we systematically characterize physiologically expressed HERVs and examine whether they may give insight into the molecular fundamentals of human development and disease. Results We systematically identify 13,889 expressed HERVs across normal body sites and demonstrate that they are expressed in body site-specific patterns and also by sex, ethnicity, and age. Analyzing cis -ERV-related quantitative trait loci, we find that 5435 hervRNAs are regulated by genetic variants. Combining this with a genome-wide association study, we elucidate that the dysregulation of expressed HERVs might be associated with various complex diseases, particularly neurodegenerative and psychiatric diseases. We further find that physiologically activated hervRNAs are associated with histone modifications rather than DNA demethylation. Conclusions Our results present a locus-specific landscape of physiologically expressed hervRNAs, which represent a hidden layer of genetic architecture in development and disease." @default.
- W4308303334 created "2022-11-10" @default.
- W4308303334 creator A5005413673 @default.
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- W4308303334 date "2022-11-03" @default.
- W4308303334 modified "2023-10-18" @default.
- W4308303334 title "The landscape of hervRNAs transcribed from human endogenous retroviruses across human body sites" @default.
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- W4308303334 doi "https://doi.org/10.1186/s13059-022-02804-w" @default.
- W4308303334 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36329469" @default.
- W4308303334 hasPublicationYear "2022" @default.