title: Molecular functions of human endogenous retroviruses in health and disease.
abstract: Human endogenous retroviruses (HERVs) and related genetic elements form 504 distinct families and occupy ~8% of human genome. Recent success of high-throughput experimental technologies facilitated understanding functional impact of HERVs for molecular machinery of human cells. HERVs encode active retroviral proteins, which may exert important physiological functions in the body, but also may be involved in the progression of cancer and numerous human autoimmune, neurological and infectious diseases. The spectrum of related malignancies includes, but not limits to, multiple sclerosis, psoriasis, lupus, schizophrenia, multiple cancer types and HIV. In addition, HERVs regulate expression of the neighboring host genes and modify genomic regulatory landscape, e.g., by providing regulatory modules like transcription factor binding sites (TFBS). Indeed, recent bioinformatic profiling identified ~110,000 regulatory active HERV elements, which formed at least ~320,000 human TFBS. These and other peculiarities of HERVs might have played an important role in human evolution and speciation. In this paper, we focus on the current progress in understanding of normal and pathological molecular niches of HERVs, on their implications in human evolution, normal physiology and disease. We also review the available databases dealing with various aspects of HERV genetics.
authors.affiliation: Group for Genomic Regulation of Cell Signaling Systems, Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, Moscow, 117997, Russia. suntsova86@mail.ru.|Laboratory of Bioinformatics, D. Rogachyov Federal Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, 117198, Russia. suntsova86@mail.ru.
authors.forename: Maria
authors.initials: M
authors.lastname: Suntsova
authors.affiliation: Group for Genomic Regulation of Cell Signaling Systems, Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, Moscow, 117997, Russia. garazha@gmail.com.|Laboratory of Bioinformatics, D. Rogachyov Federal Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, 117198, Russia. garazha@gmail.com.
authors.forename: Andrew
authors.initials: A
authors.lastname: Garazha
authors.affiliation: Group for Genomic Regulation of Cell Signaling Systems, Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, Moscow, 117997, Russia. alyona_vrn@mail.ru.|Pathway Pharmaceuticals, Wan Chai, Hong Kong, Hong Kong SAR. alyona_vrn@mail.ru.
authors.forename: Alena
authors.initials: A
authors.lastname: Ivanova
authors.affiliation: Pathway Pharmaceuticals, Wan Chai, Hong Kong, Hong Kong SAR. dk@deepknowledgeventures.com.
authors.forename: Dmitry
authors.initials: D
authors.lastname: Kaminsky
authors.affiliation: Pathway Pharmaceuticals, Wan Chai, Hong Kong, Hong Kong SAR. alex@biogerontology.org.|Department of Translational and Regenerative Medicine, Moscow Institute of Physics and Technology, 9 Institutskiy per., Dolgoprudny, Moscow, 141700, Russia. alex@biogerontology.org.
authors.forename: Alex
authors.initials: A
authors.lastname: Zhavoronkov
authors.affiliation: Group for Genomic Regulation of Cell Signaling Systems, Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, Moscow, 117997, Russia. bu3din@mail.ru.|Pathway Pharmaceuticals, Wan Chai, Hong Kong, Hong Kong SAR. bu3din@mail.ru.|National Research Centre "Kurchatov Institute", Centre for Convergence of Nano-, Bio-, Information and Cognitive Sciences and Technologies, 1, Akademika Kurchatova sq., Moscow, 123182, Russia. bu3din@mail.ru.
authors.forename: Anton
authors.initials: A
authors.lastname: Buzdin
mesh_terms: D001327:Autoimmune Diseases / Q000235:genetics*; D005075:Biological Evolution; D020077:Endogenous Retroviruses / Q000235:genetics* / Q000378:metabolism*; D005786:Gene Expression Regulation / Q000235:genetics*; D006801:Humans; D009422:Nervous System Diseases / Q000235:genetics*; D014157:Transcription Factors / Q000378:metabolism*
chemical_list: D014157:Transcription Factors
keywords: Autoimmune disorders; Cancer; Genome evolution; Human endogenous retrovirus; Infectious diseases; Long terminal repeat