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Microorganisms
Special Issues
Expression and Function of Endogenous Retroviruses
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Expression and Function of Endogenous Retroviruses

A special issue of Microorganisms (ISSN 2076-2607). This special issue belongs to the section "Molecular Microbiology and Immunology".

Deadline for manuscript submissions: closed (31 August 2024) | Viewed by 3172

Special Issue Editor

Prof. Dr. Martin S. Staege

E-Mail Website
Guest Editor
Department of Surgical and Conservative Pediatrics and Adolescent Medicine, Martin Luther University Halle-Wittenberg, Ernst-Grube-Str. 40, 06120 Halle (Saale), Germany
Interests: hodgkin lymphoma; ewing sarcoma; cytotoxic T cells; endogenous retroviruses; multiple sclerosis; gene expression analysis (gene expression music algorithms)
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Endogenous retroviruses (ERV) and related elements, e.g., isolated ("solo") long terminal repeats (LTR), are present in high numbers in eukaryotic genomes. Modern transcriptome and proteome analysis techniques allow the detection of ERV expression at the RNA or protein levels. Some of these ERV contain open reading frames that allow the translation of proteins. On the other hand, non-coding sequences and solo LTRs have been shown to influence the expression of neighbouring genes. The impact of ERV-related RNAs and proteins on physiological and disease-associated processes is a current area of research.

We invite authors who are experts in this field to contribute original articles or review articles that are not yet published and/or that are not currently under review by other journals.

Prof. Dr. Martin S. Staege
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Microorganisms is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2700 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • cancer
  • autoimmunity
  • gene expression
  • repetitive elements
  • evolution

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Published Papers (2 papers)

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Research

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25 pages, 3929 KiB  
Article
Targeted Variant Assessments of Human Endogenous Retroviral Regions in Whole Genome Sequencing Data Reveal Retroviral Variants Associated with Papillary Thyroid Cancer
by Erik Stricker, Erin C. Peckham-Gregory, Stephen Y. Lai, Vlad C. Sandulache and Michael E. Scheurer
Microorganisms 2024, 12(12), 2435; https://doi.org/10.3390/microorganisms12122435 - 27 Nov 2024
Viewed by 1615
Abstract
Papillary thyroid cancer (PTC) is one of the fastest-growing cancers worldwide, lacking established causal factors or validated early diagnostics. Human endogenous retroviruses (HERVs), comprising 8% of human genomes, have potential as PTC biomarkers due to their comparably high baseline expression in healthy thyroid [...] Read more.
Papillary thyroid cancer (PTC) is one of the fastest-growing cancers worldwide, lacking established causal factors or validated early diagnostics. Human endogenous retroviruses (HERVs), comprising 8% of human genomes, have potential as PTC biomarkers due to their comparably high baseline expression in healthy thyroid tissues, indicating homeostatic roles. However, HERV regions are often overlooked in genome-wide association studies because of their highly repetitive nature, low sequence coverage, and decreased sequencing quality. Using targeted whole-genome sequence analysis in conjunction with high sequencing depth to overcome methodological limitations, we identified associations of specific HERV variants with PTC. Analyzing WGS data from 138 patients with PTC generated through The Cancer Genome Atlas project and 2015 control samples from the 1000 Genomes Project, we examined the mutational variation in HERVs within a 20 kb radius of known cancer predisposition genes (CPGs) differentially expressed in PTC. We discovered 15 common and 13 rare germline HERV variants near or within 20 CPGs that distinguish patients with PTC from healthy controls. We identified intragenic–intronic HERV variants within RYR2, LRP1B, FN1, MET, TCRVB, UNC5D, TRPM3, CNTN5, CD70, RYR1, RUNX1, CRLF2, and PCDH1X, and three variants downstream of SERPINA1 and RUNX1T1. Sanger sequencing analyses of 20 thyroid and 5 non-thyroid cancer cell lines confirmed associations with PTC, particularly for MSTA HERV-L variant rs200077102 within the FN1 gene and HERV-L MLT1A LTR variant rs78588384 within the CNTN5 gene. Variant rs78588384, in particular, was shown in our analyses to be located within a POL2 binding site regulating an alternative transcript of CNTN5. In addition, we identified 16 variants that modified the poly(A) region in Alu elements, potentially altering the potential to retrotranspose. In conclusion, this study serves as a proof-of-concept for targeted variant analysis of HERV regions and establishes a basis for further exploration of HERVs in thyroid cancer development. Full article
(This article belongs to the Special Issue Expression and Function of Endogenous Retroviruses)
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Review

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23 pages, 1193 KiB  
Review
HERVs Endophenotype in Autism Spectrum Disorder: Human Endogenous Retroviruses, Specific Immunoreactivity, and Disease Association in Different Family Members
by Marco Bo, Alessandra Carta, Chiara Cipriani, Vanna Cavassa, Elena Rita Simula, Nguyen Thi Huyen, Giang Thi Hang Phan, Marta Noli, Claudia Matteucci, Stefano Sotgiu, Emanuela Balestrieri and Leonardo Antonio Sechi
Microorganisms 2025, 13(1), 9; https://doi.org/10.3390/microorganisms13010009 - 24 Dec 2024
Cited by 2 | Viewed by 1171
Abstract
Increasing evidence indicates that human endogenous retroviruses (HERVs) are important to human health and are an underexplored component of many diseases. Certain HERV families show unique expression patterns and immune responses in autism spectrum disorder (ASD) patients compared to healthy controls, suggesting their [...] Read more.
Increasing evidence indicates that human endogenous retroviruses (HERVs) are important to human health and are an underexplored component of many diseases. Certain HERV families show unique expression patterns and immune responses in autism spectrum disorder (ASD) patients compared to healthy controls, suggesting their potential as biomarkers. Despite these interesting findings, the role of HERVs in ASD needs to be further investigated. In this review, we discuss recent advances in genetic research on ASD, with a particular emphasis on the implications of HERVs on neurodevelopment and future genomic initiatives aimed at discovering ASD-related genes through Artificial Intelligence. Given their pro-inflammatory and autoimmune characteristics, the existing literature suggests that HERVs may contribute to the onset or worsening of ASD in individuals with a genetic predisposition. Therefore, we propose that investigating their fundamental properties could not only improve existing therapies but also pave the way for new therapeutic strategies. Full article
(This article belongs to the Special Issue Expression and Function of Endogenous Retroviruses)
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