ArticlePloS one2013
Human-specific HERV-K insertion causes genomic variations in the human genome.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.
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Who cites it
44 citing papers in PubMed.
- Retroviral Remnants in the Human Genome: Classification, Integration and Regulation.Molecular diagnosis & therapy · 2026Review
- Article
- Compilation of all known HERV-K HML-2 proviral integrations.Mobile DNA · 2025Article
- Review
- Viruses and the Brain-A Relationship Prone to Trouble.Viruses · 2025Review
- Human endogenous retroviruses in schizophrenia: clinical evidence, molecular mechanisms, and implications.Frontiers in cellular and infection microbiology · 2025Review
- Activation of human endogenous retroviruses by Sox proteins induces cell apoptosis via the caspase-3 pathway.Frontiers in microbiology · 2025Article
- Review
- Human Endogenous Retrovirus-K (HML-2)-Related Genetic Variation: Human Genome Diversity and Disease.Genes · 2023Review
- The Molecular Link Between TDP-43, Endogenous Retroviruses and Inflammatory Neurodegeneration in Amyotrophic Lateral Sclerosis: a Potential Target for Triumeq, an Antiretroviral Therapy.Molecular neurobiology · 2023Review
- HERV-K (HML-2) insertion polymorphisms in the 8q24.13 region and their potential etiological associations with acute myeloid leukemia.Archives of virology · 2023Article
- Transposable Elements Co-Option in Genome Evolution and Gene Regulation.International journal of molecular sciences · 2023Review
- The identification of retro-DNAs in primate genomes as DNA transposons mobilizing via retrotransposition.F1000Research · 2023Article
- Molecular diversity and phenotypic pleiotropy of ancient genomic regulatory loci derived from human endogenous retrovirus type H (HERVH) promoter LTR7 and HERVK promoter LTR5_Hs and their contemporary impacts on pathophysiology of Modern Humans.Molecular genetics and genomics : MGG · 2022Article
- Intragenic L1 Insertion: One Possibility of Brain Disorder.Life (Basel, Switzerland) · 2022Review
- Immunogenicity of the Envelope Surface Unit of Human Endogenous Retrovirus K18 in Mice.International journal of molecular sciences · 2022Article
- Bridging the Gap Between Environmental Adversity and Neuropsychiatric Disorders: The Role of Transposable Elements.Frontiers in genetics · 2022Review
- Human Endogenous Retrovirus as Therapeutic Targets in Neurologic Disease.Pharmaceuticals (Basel, Switzerland) · 2021Review
- A study of transposable element-associated structural variations (TASVs) using a de novo-assembled Korean genome.Experimental & molecular medicine · 2021Article
- Endogenous Retroviruses in Nervous System Disorders.Pharmaceuticals (Basel, Switzerland) · 2021Review
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Human endogenous retroviruses (HERV) sequences account for about 8% of the human genome. Through comparative genomics and literature mining, we identified a total of 29 human-specific HERV-K insertions. We characterized them focusing on their structure and flanking sequence. The results showed that four of the human-specific HERV-K insertions deleted human genomic sequences via non-classical insertion mechanisms. Interestingly, two of the human-specific HERV-K insertion loci contained two HERV-K internals and three LTR elements, a pattern which could be explained by LTR-LTR ectopic recombination or template switching. In addition, we conducted a polymorphic test and observed that twelve out of the 29 elements are polymorphic in the human population. In conclusion, human-specific HERV-K elements have inserted into human genome since the divergence of human and chimpanzee, causing human genomic changes. Thus, we believe that human-specific HERV-K activity has contributed to the genomic divergence between humans and chimpanzees, as well as within the human population.
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