ArticleProceedings of the National Academy of Sciences of the United States of America2016
Discovery of unfixed endogenous retrovirus insertions in diverse human populations.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 192 papers, 1 of them a synthesis that pooled it.
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Who cites it
192 citing papers in PubMed, 1 synthesis or guideline pooled it, 288 citations in OpenAlex.
- The association between human endogenous retroviruses and multiple sclerosis: A systematic review and meta-analysis.PloS one · 2017Pooled it
- Review
- Discovery and evolution of endogenous retroviruses in the genome of crab-eating macaque (Macaca fascicularis).Molecular genetics and genomics : MGG · 2026Article
- Evolution of CTCF binding sites in the human genome.Molecular biology and evolution · 2026Article
- HERV-K HML-2 transcriptional profiling and splicing pattern unveiled by direct single-molecule long-read RNA sequencing.Mobile DNA · 2026Article
- Integrated small and long RNA sequencing reveals piRNA mediated transposon repression during human oogenesis.Nature communications · 2026Article
- Retroviral Remnants in the Human Genome: Classification, Integration and Regulation.Molecular diagnosis & therapy · 2026Review
- Review
- X-Linked Hypophosphatemia Caused by a New Partial Insertion of LINE-1 in theHuman mutation · 2026Article
- Characterization of HERV-K (HML-2) Rec proteins encoded in the human genome and their post-transcriptional function.Journal of virology · 2025Article
- Retroviral insertions contributed to the divergence of human and chimpanzee brains.bioRxiv : the preprint server for biology · 2025Article
- Gut bacteriophages induce specific-reprogramming of macrophages to generate a protective innate immunity response to lipopolysaccharide exposure.Gut microbes · 2025Article
- Type I interferons increase expression of endogenous retrovirus K102 and envelope protein in myeloid cells from patients with autoimmune disease.Mobile DNA · 2025Article
- Endogenous Retroviruses in Host-Virus Coevolution: From Genomic Domestication to Functional Innovation.Genes · 2025Review
- Article
- The prefusion structure of the HERV-K (HML-2) Env spike complex.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- The Role of Human Endogenous Retroviruses in the Initiation and Progression of Melanoma.Biomedicines · 2025Review
- Adaptive evolution of koala retrovirus transcription silencing and what it means for conservation.Clinical and translational medicine · 2025Article
- Combination of a therapeutic cancer vaccine targeting the endogenous retroviral envelope protein ERVMER34-1 with immune-oncology agents facilitates expansion of neoepitope-specific T cells and promotes tumor control.Journal for immunotherapy of cancer · 2025Article
- Compilation of all known HERV-K HML-2 proviral integrations.Mobile DNA · 2025Article
132 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
Endogenous retroviruses (ERVs) have contributed to more than 8% of the human genome. The majority of these elements lack function due to accumulated mutations or internal recombination resulting in a solitary (solo) LTR, although members of one group of human ERVs (HERVs), HERV-K, were recently active with members that remain nearly intact, a subset of which is present as insertionally polymorphic loci that include approximately full-length (2-LTR) and solo-LTR alleles in addition to the unoccupied site. Several 2-LTR insertions have intact reading frames in some or all genes that are expressed as functional proteins. These properties reflect the activity of HERV-K and suggest the existence of additional unique loci within humans. We sought to determine the extent to which other polymorphic insertions are present in humans, using sequenced genomes from the 1000 Genomes Project and a subset of the Human Genome Diversity Project panel. We report analysis of a total of 36 nonreference polymorphic HERV-K proviruses, including 19 newly reported loci, with insertion frequencies ranging from <0.0005 to >0.75 that varied by population. Targeted screening of individual loci identified three new unfixed 2-LTR proviruses within our set, including an intact provirus present at Xq21.33 in some individuals, with the potential for retained infectivity.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.