Endogenous Retroviruses: Contribution to Human Evolution and Physiopathology

A special issue of Biology (ISSN 2079-7737). This special issue belongs to the section "Evolutionary Biology".

Deadline for manuscript submissions: closed (10 December 2021) | Viewed by 5296

Special Issue Editors

Department of Life and Environmental Sciences University of Cagliari, Cittadella Universitaria di Monserrato, 09042 Monserrato, Italy
Interests: endogenous retroviruses; HERV expression in health and diseases; antiviral immune response; transcriptomics
Chair, Department of Life and Environmental Sciences, University of Cagliari, Cittadella Universitaria di Monserrato SS554, Monserrato, 09042 Cagliari, Italy
Interests: virology; microbiology; antiviral drugs; drug development; endogenous retroviruses; innate immunity
Special Issues, Collections and Topics in MDPI journals
Centre for Virus Research, MRC-University of Glasgow (UK), Glasgow, UK
Interests: ecology and evolution of viruses; viral genomics; paleovirology; bioinformatics
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

A growing body of evidence indicates that evolutionary interaction with endogenous retroviruses (ERVs) has played a fundamental role in shaping mammalian evolution. For example, ERV-derived proteins and regulatory sequences have been shown to play a pivotal role in mammalian development. Furthermore, several lines of evidence support a role for ERVs in the evolution of antiviral immune responses. For example, ERV-derived sequences have been shown to play a role in regulating interferon responses. Intriguingly, viral infection can trigger the expression of otherwise silenced ERV loci, suggesting that ERVs might serve as strategic orchestrators of host antiviral defenses.

ERVs are also considered possible drivers of some of pathological conditions, primarily cancer and autoimmune disorders. In particular, it is likely that the loss of balance between the control of ERV expression and its domestication to the host physiology (e.g., in disorders characterized by immune and epigenetics dysregulation) can contribute to complex diseases.

The post-genomic era provides unprecedented possibilities to investigate ERV contribution to mammalian development and physiopathology. Unfortunately, however, ERV research remains fraught with misconceptions and challenged by complications in dealing with highly repetitive sequences.

This Special Issue aims to provide an updated survey of ERV interplay with the host biology, with particular attention to clarifying fundamental misconceptions and outlining current controversies regarding the evolutionary origins of ERVs in the human genome and their possible contributions to human evolution and pathogenesis.

Dr. Nicole Grandi
Prof. Dr. Enzo Tramontano
Dr. Robert Gifford
Guest Editors

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Keywords

  • endogenous retroviruses
  • ERV
  • transposable elements
  • evolution
  • cancer
  • autoimmunity
  • epigenetics

Published Papers (2 papers)

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17 pages, 2646 KiB  
Article
HERV-K(HML7) Integrations in the Human Genome: Comprehensive Characterization and Comparative Analysis in Non-Human Primates
Biology 2021, 10(5), 439; https://doi.org/10.3390/biology10050439 - 14 May 2021
Cited by 9 | Viewed by 2414
Abstract
Endogenous Retroviruses (ERVs) are ancient relics of infections that affected the primate germ line and constitute about 8% of our genome. Growing evidence indicates that ERVs had a major role in vertebrate evolution, being occasionally domesticated by the host physiology. In addition, human [...] Read more.
Endogenous Retroviruses (ERVs) are ancient relics of infections that affected the primate germ line and constitute about 8% of our genome. Growing evidence indicates that ERVs had a major role in vertebrate evolution, being occasionally domesticated by the host physiology. In addition, human ERV (HERV) expression is highly investigated for a possible pathological role, even if no clear associations have been reported yet. In fact, on the one side, the study of HERV expression in high-throughput data is a powerful and promising tool to assess their actual dysregulation in diseased conditions; but, on the other side, the poor knowledge about the various HERV group genomic diversity and individual members somehow prevented the association between specific HERV loci and a given molecular mechanism of pathogenesis. The present study is focused on the HERV-K(HML7) group that—differently from the other HERV-K members—still remains poorly characterized. Starting from an initial identification performed with the software RetroTector, we collected 23 HML7 proviral insertions and about 160 HML7 solitary LTRs that were analyzed in terms of genomic distribution, revealing a significant enrichment in chromosome X and the frequent localization within human gene introns as well as in pericentromeric and centromeric regions. Phylogenetic analyses showed that HML7 members form a monophyletic group, which based on age estimation and comparative localization in non-human primates had its major diffusion between 20 and 30 million years ago. Structural characterization revealed that besides 3 complete HML7 proviruses, the other group members shared a highly defective structure that, however, still presents recognizable functional domains, making it worth further investigation in the human population to assess the presence of residual coding potential. Full article
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17 pages, 3226 KiB  
Article
Human Endogenous Retroviruses (HERVs) and Mammalian Apparent LTRs Retrotransposons (MaLRs) Are Dynamically Modulated in Different Stages of Immunity
Biology 2021, 10(5), 405; https://doi.org/10.3390/biology10050405 - 05 May 2021
Cited by 6 | Viewed by 1932
Abstract
Human Endogenous retroviruses (HERVs) and Mammalian Apparent LTRs Retrotransposons (MaLRs) are remnants of ancient retroviral infections that represent a large fraction of our genome. The HERV and MaLR transcriptional activity is regulated in developmental stages, adult tissues, and pathological conditions. In this work, [...] Read more.
Human Endogenous retroviruses (HERVs) and Mammalian Apparent LTRs Retrotransposons (MaLRs) are remnants of ancient retroviral infections that represent a large fraction of our genome. The HERV and MaLR transcriptional activity is regulated in developmental stages, adult tissues, and pathological conditions. In this work, we used a bioinformatics approach based on RNA-sequencing (RNA-seq) to study the expression and modulation of HERVs and MaLR in a scenario of activation of the immune response. We analyzed transcriptome data from subjects before and after the administration of an inactivated vaccine against the Hantaan orthohantavirus, the causative agent of Korean hemorrhagic fever, to investigate the HERV and MaLR expression and differential expression in response to the administration of the vaccine. Specifically, we described the HERV transcriptome in PBMCs and identified HERV and MaLR loci differentially expressed after the 2nd, 3rd, and 4th inactivated vaccine administrations. We found that the expression of 545 HERV and MaLR elements increased in response to the vaccine and that the activation of several individual HERV and MaLR loci is specific for each vaccine administration and correlated to different genes and immune-related pathways. Full article
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