caa a22 4500 606174923 CHVBK 20210128100740.0 cr unu---uuuuu 210128e20151001xx s 000 0 eng 10.1007/s00018-015-1947-6 doi (NATIONALLICENCE)springer-10.1007/s00018-015-1947-6 Molecular functions of human endogenous retroviruses in health and disease [Elektronische Daten] [Maria Suntsova, Andrew Garazha, Alena Ivanova, Dmitry Kaminsky, Alex Zhavoronkov, Anton Buzdin] 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. Springer Basel, 2015 Human endogenous retrovirus nationallicence Long terminal repeat nationallicence Genome evolution nationallicence Cancer nationallicence Autoimmune disorders nationallicence Infectious diseases nationallicence Suntsova Maria Group for Genomic Regulation of Cell Signaling Systems, Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, 117997, Moscow, Russia aut Garazha Andrew Group for Genomic Regulation of Cell Signaling Systems, Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, 117997, Moscow, Russia aut Ivanova Alena Group for Genomic Regulation of Cell Signaling Systems, Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, 117997, Moscow, Russia aut Kaminsky Dmitry Pathway Pharmaceuticals, Wan Chai, Hong Kong, Hong Kong SAR aut Zhavoronkov Alex Pathway Pharmaceuticals, Wan Chai, Hong Kong, Hong Kong SAR aut Buzdin Anton Group for Genomic Regulation of Cell Signaling Systems, Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, 117997, Moscow, Russia aut Cellular and Molecular Life Sciences Springer Basel 72/19(2015-10-01), 3653-3675 1420-682X 72:19<3653 2015 72 18 https://doi.org/10.1007/s00018-015-1947-6 text/html Onlinezugriff via DOI BK010053 XK010053 XK010000 Metadata rights reserved Springer special CC-BY-NC licence nationallicence 1 review-article jats NATIONALLICENCE NATIONALLICENCE NL-springer NATIONALLICENCE 856 40 https://doi.org/10.1007/s00018-015-1947-6 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Suntsova Maria Group for Genomic Regulation of Cell Signaling Systems, Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, 117997, Moscow, Russia aut NATIONALLICENCE 700 1- Garazha Andrew Group for Genomic Regulation of Cell Signaling Systems, Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, 117997, Moscow, Russia aut NATIONALLICENCE 700 1- Ivanova Alena Group for Genomic Regulation of Cell Signaling Systems, Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, 117997, Moscow, Russia aut NATIONALLICENCE 700 1- Kaminsky Dmitry Pathway Pharmaceuticals, Wan Chai, Hong Kong, Hong Kong SAR aut NATIONALLICENCE 700 1- Zhavoronkov Alex Pathway Pharmaceuticals, Wan Chai, Hong Kong, Hong Kong SAR aut NATIONALLICENCE 700 1- Buzdin Anton Group for Genomic Regulation of Cell Signaling Systems, Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, 117997, Moscow, Russia aut NATIONALLICENCE 773 0- Cellular and Molecular Life Sciences Springer Basel 72/19(2015-10-01), 3653-3675 1420-682X 72:19<3653 2015 72 18