433 results on '"GENOME"'
Search Results
2. The role of epigenetics in male and female infertility
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D. A. Egorova, V. V. Derezina, M. V. Chebanyan, M. B. Sultonova, T. V. Ishmuratov, M. M. Gasanov, A. Z. Chipchikova, S. A. Paksileva, S. S. Mitkina, R. R. Khamidullina, A. Sh. Kutueva, and A. A. Anikeeva
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fertility ,infertility ,epigenetics ,genome ,dna sequence modification ,gene expression ,diet and infertility ,dietary habits ,semen parameters ,dietary patterns ,foods ,nutrients ,Gynecology and obstetrics ,RG1-991 - Abstract
Introduction. Today, infertility is a global problem that affects about 48.5 million married couples worldwide. It has been suggested that epigenetic aberrations are of great importance for reproductive health, as they account for an interactive relationship between genomic landscape, interplay with gene environment and disease phenotype. A new understanding on etiology of complex non-Mendelian disease traits has aroused a growing interest in reproductive epigenetics.Aim: to analyze available publications on epigenetic aspects of male and female infertility as well as nutrition-related risk factors.Materials and Methods. There was conducted a search for publications in the electronic databases PubMed, Google Scholar and Library to be selected in accordance with PRISMA recommendations. All relevant articles published before November 2023 were included in this review. As a result of the search, there were extracted 530 publications from PubMed, 57 publications – from eLibrary and 23 publications – from Google Scholar. Duplicates and non-full-text article versions were excluded.Results. Environmental factors play an important role in generation and maintenance of epigenetic marks. DNA methylation abnormalities can lower human fertility. Altered protamine level may affect epigenetic paternally transmitted DNA information. Long-term infertility is associated with a modified methylome in euploid blastocysts primarily affecting regulation of genomic imprinting. Both excess and deficiency of trace elements are associated with adverse pregnancy outcomes, similarly applied infertility.Conclusion. Despite that epigenetic mechanisms, genes, nutrition and dietary supplements discussed here affect infertility, while a relevant recommended dose has not yet been determined, it was noted that such parameters may positively influence fertility. However, more comprehensive and longitudinal human studies are required to examine their relationship to male and female reproductive functions.
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- 2024
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3. The influence of some tumor characteristics on the long-term survival of proximal colorectal cancer patients
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D. Ratsiborskyi and A. Mashukov
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proximal colorectal cancer ,surgical treatment ,overall survival ,Kaplan-Meier method ,clinical and morphological characteristics of the tumor ,genome ,Education ,Sports ,GV557-1198.995 ,Medicine - Abstract
The article is devoted to the study of survival in colorectal cancer and the influence of some common clinical factors on the life expectancy. Colorectal cancer (CRC) is an urgent problem of today and modern oncology, as the incidence of CRC is constantly increasing. It is believed that the development of CRC in 50% of all cases is related to lifestyle and long-term exposure to carcinogens. Genetic factors play a decisive role in 5 to 20% of cases. It has been established that from 20 to 50% of patients with CRC already have distant metastases at the initial presentation. The understanding of the biology of colon cancer is based on the analysis of the degree of aggressiveness of its course, patient survival, the effect of performed operative and combined treatment methods on the course of the disease, and the presence of some other factors that are not yet completely understood by clinicians (the influence of hidden metastasis, circulating cancer cells, genetic causes, etc.). Proximal colon tumors are tumors that located in the cecum, ascending, and hepatic flexure of the colon, that is, in fact, tumors of the right half of the colon. The more proximally the tumor was located in the right half of the colon, the longer the patients lived. At a follow-up period of 24 months, the duration of follow-up for patients with cecum, ascending colon, and hepatic angle tumors was 71.43%, 63.64%, and 72.73%, respectively. For the observation period of 32 months: 42.86%, 36.36%, 18.18%. For the observation period of 55 months: 14.29%, 9.09%, 0%, respectively. Thus, biology was the key factor, as the groups were equivalent in terms of stage, frequency of lymph node involvement, and degree of tumor differentiation. Therefore, from our point of view, the separation of right-sided RTK, r-RTK into a apparant nosoform has a clinically significant character: it is in the right half of the colon that the toxicoanemic form occurs more often; and less often (almost never) – obturation, much more characteristic of left-sided cancer, l-RTK. Typically, right-sided colon tumors have the following genomic context: MLH1 hypermethylation, BRAF mutation, and high-grade MSI, while left-sided colon tumors are p53 and KRAS mutant.
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- 2024
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4. Mycoplasma pneumoniae – modern data on the structure, molecular biology and epidemiology of the pathogen
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Edelstein I.A.
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mycoplasma pneumoniae ,genome ,epidemiology ,pneumonia ,macrolide resistance ,Infectious and parasitic diseases ,RC109-216 ,Microbiology ,QR1-502 - Abstract
Mycoplasma pneumoniae is a common etiologic agent of respiratory tract infections and communityacquired pneumonia (CAP) in children and adults. Recently, much new data on this pathogen, its molecular biology, cytoadherence and epidemiology have been accumulated. This review describes in detail the features of the microorganism and the pathogenesis of the diseases caused, clinical manifestations, provides data on the epidemiology of the incidence of respiratory mycoplasmosis and CAP caused by this microorganism in the world, discusses the issues of asymptomatic carriage, considers the problems of laboratory diagnosis, antibiotic therapy and antibiotic resistance of the pathogen.
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- 2023
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5. On the space of SARS-CoV-2 genetic sequence variants
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A. Yu. Palyanov and N. V. Palyanova
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coronavirus ,sars-cov-2 ,genome ,space of variants ,evolution ,variability ,Genetics ,QH426-470 - Abstract
The coronavirus pandemic caused by the SARS-CoV-2 virus, which humanity resisted using the latest advances in science, left behind, among other things, extensive genetic data. Every day since the end of 2019, samples of the virus genomes have been collected around the world, which makes it possible to trace its evolution in detail from its emergence to the present. The accumulated statistics of testing results showed that the number of confirmed cases of SARS-CoV-2 infection was at least 767.5 million (9.5 % of the current world population, excluding asymptomatic people), and the number of sequenced virus genomes is more than 15.7 million (which is over 2 % of the total number of infected people). These new data potentially contain information about the mechanisms of the variability and spread of the virus, its interaction with the human immune system, the main parameters characterizing the mechanisms of the development of a pandemic, and much more. In this article, we analyze the space of possible variants of SARS-CoV-2 genetic sequences both from a mathematical point of view and taking into account the biological limitations inherent in this system, known both from general biological knowledge and from the consideration of the characteristics of this particular virus. We have developed software capable of loading and analyzing SARS-CoV-2 nucleotide sequences in FASTA format, determining the 5’ and 3’ UTR positions, the number and location of unidentified nucleotides (“N”), performing alignment with the reference sequence by calling the program designed for this, determining mutations, deletions and insertions, as well as calculating various characteris tics of virus genomes with a given time step (days, weeks, months, etc.). The data obtained indicate that, despite the apparent mathematical diversity of possible options for changing the virus over time, the corridor of the evolutionary trajectory that the coronavirus has passed through seems to be quite narrow. Thus it can be assumed that it is determined to some extent, which allows us to hope for a possibility of modeling the evolution of the coronavirus.
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- 2023
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6. Modern view on the features of the development and course of the antiviral immune response
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Alexandr V. Moskalev, Boris Yu. Gumilevskii, Aleksandr V. Zhestkov, and Maksim O. Zolotov
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viruses ,genome ,infection ,immune system ,interferons ,antiviral immunity ,Medicine - Abstract
The review article summarizes recent literature data on immunopathogenetic features that influence the nature of the development and course of viral infections. According to the impact on a cell, cytopathic and non-cytopathic viruses are isolated. The course of viral infections is accompanied by cell death, immunopathology, immunosuppression, oncogenesis, and in later stages molecular mimicry and immune amnesia. The acute course of infections is controlled mainly by the mechanisms of innate immunity. The severity of the course of such infections is associated with the genetic variability of viruses and resistance to the antibodies' neutralizing effects. Viruses that are non-cytopathic in their natural mouse hosts can cause acute and chronic infections in humans. The activity of viral reproduction, the persistent infection may be associated with the peculiarities of the expression of gene profiles of the infected cell. The synthesis of endogenous interferons can also affect the nature of the infection development. Disturbances in signaling through Toll-like receptors may contribute to the persistence of infection. Some of the viral proteins block the presentation by the molecules of the main histocompatibility complex of I, II class of viral antigens, interfering with various stages of the presentation. This process is facilitated by a decrease in the transcription of genes of the main histocompatibility complex, blocking the secretion of immunogenic peptides by the proteasome or interfering with the subsequent assembly and transport of the peptide complex to the cell surface. A number of viral proteins stimulate the virus reproduction and inhibit apoptosis. It is believed that the B7-2 molecule is most important for triggering the immune response. Immunodominant epitopes of viral antigens, mutants of cytotoxic lymphocytes are key factors in the immunopathogenesis of persistent, latent infections. Changes in the viral genome of even a single amino acid allow them to avoid recognizing epitopes by an activated T-lymphocyte. Another mechanism for viruses to escape the immune system control is the death of activated T-cells.
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- 2023
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7. Structural characteristics of the bovine leukemia virus genome: A mini review
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O. Yu. Fomenko
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leukemia ,bovine leukemia virus ,genome ,proviral dna ,pcr assay ,Food processing and manufacture ,TP368-456 - Abstract
Enzootic bovine leukemia is an infectious disease with a chronic course caused by an RNA‑containing virus of the genus Deltaretrovirus. Despite the implementation of various programs for the elimination of leukemia, the disease is still widespread on the planet and continues to cause significant economic damage. A large proportion of BLV‑infected cattle remain to be asymptomatic carriers of the virus, which complicates diagnosis and contributes to the spread of the disease in the herd. The structure of the BLV genome is generally typical of retroviruses. It consists of genes encoding structural proteins, viral enzymes and regulatory elements flanked on both sides by identical long terminal repeats. The enzyme and structural protein coding genes (gag, pro, pol, and env) play a crucial role in the life cycle of the virus, influencing its infectivity and virion production. The tax and rex regulatory genes regulate viral transcription, export of transcripts from the nucleus to the cytoplasm, and disease progression. The increase in the number of copies of proviral DNA occurs mainly not due to the functioning of the virus reverse transcriptase, but because of clonal reproduction of the affected subpopulations of B‑cells, mainly CD5+ IgM+. This feature provides increased genetic stability of the BLV virus. These properties of the viral genome allow the development of a variety of PCR test systems. The widespread implementation of such systems enables the detection of carriers of the disease at early stages, which should contribute to the effective implementation of national programs to eradicate bovine leukemia.
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- 2023
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8. The potential use of DNA double-strand breaks detection in various fields of medicine
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A. V. Torgashina and A. M. Lila
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genome ,double-strand breaks in dna ,focuses γ-h2ax ,Medicine - Abstract
The article discusses the relevance of determining DNA double-strand breaks (DSBs) using the analysis of γ-H2AX foci as a marker of DNA instability in various conditions. The issues of the formation of DSBs and the peculiarities of their detection in various tissues are highlighted. Changes in the intensity of DSBs formation during the use of radiological diagnostic methods, stress, increased physical exertion, some oncological and rheumatic diseases, as well as the dynamics of DNA repair on the background of various methods of therapy were analyzed.
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- 2023
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9. RISKS OF GENETIC EDITING OF THE HUMAN GENOME, TAKING INTO ACCOUNT THE RECOMMENDATIONS OF THE WORLD HEALTH ORGANIZATION
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PESTRIKOVA Anastasia Aleksandrovna and KHOLOPOVA Elena Nikolaevna
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genetic risks ,somatic editing ,human germ-line editing ,genome ,genetic editing ,Law in general. Comparative and uniform law. Jurisprudence ,K1-7720 - Abstract
The relevance of the study is determined by the need to take into account the risks of human genome editing (somatic and germ-line) taking into account the international recommendations of the World Health Organization (WHO), the possibilities of introducing such editing into clinical practice. Potential benefits of human genome editing include new strategies for diagnosis, treatment and prevention of genetic disorders, new treatments for infertility, innovative ways to increase disease resistance, they contribute to the development of vaccines and the expansion of knowledge about the human body as a whole. However, human genome editing requires examining risks and benefits. Purpose: to analyze the possible risks of human genome editing, taking into account the international recommendations of WHO to form the conditions for the admissibility of genetic editing in clinical practice. Methods: general scientific (logical, systemic, structural-functional, comparative, analogy and modeling, observation, analysis of international regulations: conventions, doctrines, treaties, resolutions, declarations, analysis of WHO activities based on information posted on websites), specific scientific (institutional, functional assessment, differentiation), special legal (formal legal, comparative legal interpretation).Results: human genome editing (somatic and germ-line) has significant potential for humanity and health, medicine and science systems. In the Russian Federation, there is a need to develop legislation to enable the application of genetic editing, taking into account risks and benefits; to define the concept and difference of somatic editing and germ-line editing; to fix the grounds of restrictions of application of genetic editing in «serious disease or disorder of the organism» and «improvement of functions of the organism»; to define the concept and legal status of embryo and other substances of embryonic origin, as well as possibilities of using embryos for scientific and medical purposes.
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- 2022
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10. LEGAL PROBLEMS OF USING HUMAN GENETIC INFORMATION IN THE RUSSIAN FEDERATION
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KAZAKOV Nikita Andreevich and AKHTYAMOVA Evgeniya Viktorovna
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genetic information ,genomic information ,genome ,concept of genomic (genetic) information ,personal data ,legal regulation ,legitimate interest ,intangible good ,Law in general. Comparative and uniform law. Jurisprudence ,K1-7720 - Abstract
The article analyzes the issues arising when using human genetic information. The study of the existing legislation governing the use of such information reveals problems in determining the legal nature of genetic information in the personal data system, as well as its adequate legal protection. Purpose: to identify the legal problems of the use of genetic information on the basis of international legislation, judicial practice and the current Russian legislation and to identify possible ways of their solution. Methods: comparison, description and interpretation, dialectical, for-mal-logical, structural-system analysis and synthesis. Results: the study allows to de-termine the current state of legal regulation of genetic information, as well as to out-line ways of solving legal problems in this area.
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- 2022
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11. HUMAN GENOME FROM THE MOTHER + HUMAN GENOME FROM THE FATHER = PERSONAL DATA. LEGAL ISSUES OF DNA-IDENTIFICATION OF THE PERSON AND DNA-REGISTRATION OF THE POPULATION
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AMINEV Farit Gizarovich, GARAFUTDINOV Ravil Rinatovich, and CHEMERIS Alexey Viktorovich
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dna ,genome ,single nucleotide polymorphism ,snps ,personal data ,crime investigation ,dna phenotyping ,dna identification ,genomic registration ,Law in general. Comparative and uniform law. Jurisprudence ,K1-7720 - Abstract
The use of science and relevant innovative technologies for the development of tools and techniques for detecting and investigating crimes is an urgent task of increasing the effectiveness of fighting crime at the current stage. It is shown that in order to identify a person by a DNA molecule, it is sufficient to study and encode only a half of the body's chromosomes, that is, its haploid set. However, only the complete (diploid) genome determines the phenotypic and other biological characteristics of the organism. Purpose: to emphasize the erroneous use of information on the reference (artificially collected) quasi-haploid human genome, including in DNA-forensic science. Another purpose is to prove the necessity of conducting universal DNA (genomic) registration of the population only on the basis of neutral DNA markers (arguments are made for this view). Ethical issues arising from DNA phenotyping as part of investigations are addressed. Methods: empirical methods of comparison, description, interpretation; theoretical methods of formal and dialectical logic; specific scientific methods: comparative-legal, system-structural, analysis, modeling, social survey and interpretation of legal norms. Results: the research identifies the possibilities of establishing more complete characteristics of a person in genome-wide studies (diploid genomes); the advantages of SNP-loci (SNPs) studies in relation to STR-loci studies are considered. The article shows the possibilities of using new technologies for DNA identification of the person as a result of universal genomic registration of the population of the Russian Federation.
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- 2022
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12. Prospects for obtaining low-alkaloid and adaptive forms of narrow-leafed lupinе based on the genome and transcriptome resources of the species
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M. A. Vishnyakova and E. A. Krylova
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narrow-leafed lupinе ,quinolizidine alkaloids (qa) ,biosynthesis ,genome ,transcriptome profiling ,Biotechnology ,TP248.13-248.65 - Abstract
The narrow-leafed lupinе (Lupinus angustifolius L.) is considered as a crop of untapped opportunities. The food and forage potential of the species is not fully exploited due to the presence of quinolizidine alkaloids (QA) in plants, which are secondary metabolites that make the seeds bitter and toxic to humans and animals. Varieties with a low content of QA (“sweet” varieties) created over the last 50-60 years turned out to be more susceptible to damage by sucking insects and insect-transmitted viruses than high alkaloid ones (“bitter” varieties). Based on the rapidly developing genomic, transcriptomic and metabolomic profiling of the species, some molecular determinants and features of alkaloid biosynthesis in narrow-leafed lupinе plants have been identified: alkaloids are formed in the vegetative organs of the plant and then transported to the seeds. This information substantiated the creation of “bitter-sweet” forms with a high content of alkaloids in the vegetative parts of the plant, which would make it possible to reduce the attack of pathogens, and a minimal content of alkaloids in the seeds. This review summarizes the existing prerequisites for obtaining such forms of narrow-leafed lupinе on the basis of the available scientific developments. Information on the creation of saturated genetic maps of the species, in which the iucundus (iuc) locus determining the overall low alkaloid content in seeds is integrated and is used in breeding programs. The use of the new generation sequencing allowed the identification of the RAP2-7 gene, encoding the transcription factor APETALA2/ETHYLENE RESPONSE FACTOR, which is coupled to the iuc locus and located in the area with the main QTLs that affect the composition of the QA. It is a likely candidate gene for regulating alkaloid content in narrow-leafed lupinе seeds. The initial stages of QA biosynthesis and its regulatory factors have been revealed. Two reference assemblies of the genome of narrow-leafed lupinе have been carried out. All these achievements constitute a valuable resource for the creation of forms of narrow-leafed lupinе with a high content of alkaloids in the vegetative mass and low in the seeds, which are absent in nature.
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- 2022
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13. Legal aspects of using genetic evidence on the example of US judicial practice
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Daria V. Ponomareva and Elizaveta M. Sorokina
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genomic research ,genome ,case law ,genetic evidence ,dna ,Law - Abstract
Advances in genomic research, biobanking and DNA identification technologies are expanding the use of biological and genetic evidence in litigation. The discovery of DNA and one of its functions to transmit hereditary information made it possible to look differently at the theory of a genetic predisposition to deviant behavior. The relevance of the study is due to the fact that the availability and increase of genetic research allows, along with the traditional use of genetic expertise in litigation (search and identification of a criminal, establishment of paternity), to expand the possibility of using the achievements of genetics by the parties to prove other circumstances in court. In this article, the authors analyze the US jurisprudence regarding the possibility of a party using the protection of genetic evidence in order to present a position in justification of the mitigation of punishment for an accused due to her genetic predisposition to criminal behavior. The authors also paid attention to the consideration of the issue of using the results of genetic testing in civil proceedings in order to prove the fact of the influence of the inherited gene on deviant behavior. In carrying out this study, the authors used a significant number of Russian and foreign sources of scientific literature. General and specific scientific methods of cognition, including the formal legal and comparative legal method, were used as research methods
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- 2021
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14. Human rights and modern biomedicine: problems and perspectives
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Georgy B. Romanovskiy and Olga V. Romanovskaya
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human rights ,regulation ,biomedicine ,biomedical technologies ,genome ,gene diagnostics ,restrictions ,prohibition ,Law - Abstract
The article is devoted to the emerging threats to human rights in the context of the development of biomedical technologies, as well as to the identification of social risks requiring legal resolution in this area. It suggests a human rights model for regulating innovative methods of diagnosis and treatment. The purpose of the article is to analyze legislation in the field of modern biomedicine, genetic engineering, and related innovative technologies. A comparative legal study applied in the work made it possible to substantiate a framework model for regulating modern biomedicine. The main task of such a model is to identify risks affecting fundamental human and civil rights and freedoms. With this approach, the details of regulation are the subject of bylaws or the corresponding prescriptions of professional medical organizations. Methods . The basis of this research was formed by such research methods as analysis of legal regulation, formal legal and comparative legal methods. The main results of the study are to determine the legal links between modern biomedical technologies and the concept of personalized medicine. In fact, the lack of interaction of new advances in biomedicine with the basic provisions of medical care has been revealed. The article proves the need to impose restrictions on the alleged popularization of innovative technologies by persons without medical education, using them for dubious social purposes. The risks of developing updated eugenics have been outlined. The tendency of relativism in consolidating the principles of mutual relations between a person, state, and society has been identified. Conclusions. The development of biomedicine requires an adequate response from the Russian legislation, which does not yet take into account most of its achievements. This creates certain risks for human and civil rights and freedoms. The article substantiates the introduction of bans on the most ethically questionable technologies and experiments. It is proposed to expand the powers of professional medical organizations (including the transfer of some of the regulatory powers to them).
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- 2021
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15. International Legal Regulation of Genetic Research and Implementation of International Legal Standards in this sphere into Russian Legislation
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Aleksey V. Kubyshkin and Sergey V. Kosilkin
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balance of interests ,biodiversity ,blockchain ,cartagena protocol ,genome ,genetic research ,international law ,implementation ,living modified organisms ,oviedo convention ,Law - Abstract
The article analyzes the topical issues of international legal regulation of genetic research; it provides a comparative analysis of two groups of international acts regulating relations related to genetic research and application of their results on creation, use and circulation of genetically modified organisms (except humans), on the study of human genome and application of their results. The article deals with the issues of objects and methods of genetic research regulation, balance of interests as the basis for legal regulation of public relations in the field of genomic research. It also considers approaches to ensuring a balance of private, group and common (public) interests. Criticism of certain provisions of the Convention on Human Rights and Biomedicine is given, the question of the inadmissibility of legal opposition between the protection of human rights and the interests of science and society as a whole is raised. The authors put forward proposals on the implementation of a number of international norms in Russian legislation and its further improvement, as well as on the use of blockchain technology in genetic research.
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- 2021
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16. Legal regulation of gene editing procedure: USA and EU experience
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Elena N. Trikoz, Diana M. Mustafina-Bredikhina, and Elena E. Gulyaeva
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human rights ,international biolaw ,legal and ethical fields ,genome ,gene editing ,biomedical techniques ,patent law ,crispr-cas9 ,Law - Abstract
The problem of legal regulation of gene editing in recent years has obviously become global in nature due to the lack of unified systematic legislation in the world. The authors set a goal to study the main existing regulatory legal acts and determine whether there is currently an array of legislation that protects and at the same time establishes responsibility for the editors of the genome and persons who have given consent to it, before future generations, who will receive the edited gene, but who did not actually ask for it. The authors analyzed the most known general public cases related to patent disputes for the CRISPR-Cas9 genome editing technology and came to the conclusion that the strong desire to obtain the legal status of the author of the CRISPR/Cas9 genome modification technology is explained not by scientific ambitions but by commercial interest in a promising technology.
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- 2021
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17. Biomedicine and Law: mutual trust and perspectives
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Oleg A. Yastrebov
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biomedicine ,bioethics ,genome ,genetic practice ,international law ,national legislation ,Law - Abstract
The publication raises issues of interaction of rapidly developing areas of bio-medicine and international legal standards, and national legislation of states. Attention is focused on the need for legal guarantees in the field of editing the genome of living organisms, in vitro fertilization, etc. It is proposed to form a uni-form attitude and establish the boundaries of what is permissible in the field of genetic practice so that the situation does not get out of the control of the human mind.
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- 2021
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18. Epistemological issues of research of the subject and object of legal protection in genomic relations
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Anastasiya E. Semyonovikh
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genomic legal relations ,genomic information ,genetic research ,genome ,bioethics ,legal impact ,legal safeguard ,legal defense ,Law - Abstract
The relevance of the research topic is justified by the rapid technological development of genetics and genomics and introduction of genetic technologies and inventions in scientific and medical practice, which is not provided with a proper systematized legal protection in national and international legislation. The legislators problems are caused by the uniqueness and complexity of the genomic legal relationship. The subjects of knowledge in the framework of post-non-classical scientific rationality need to focus on the epistemological philosophical foundations of the knowledge of genomic legal relations. The purpose of the study is to identify and reflect the features of knowledge of the legal protection of genomic legal relations. Research tasks suggest defining the concept and composition of genomic legal relations, identifying the object and subject of legal protection of genomic legal relations, distinguishing between the concepts of "legal safeguard" and "legal protection" of genomic legal relations. The methodology of scientific research includes the dialectical method, general scientific logical operations (deduction and induction, analysis and synthesis), and private scientific methods (formal legal and comparative legal methods). Within the framework of the methodology of post-non-classical scientific rationality, a systematic approach to the study of the object of knowledge is used - the study of the structure, functional and instrumental aspects of the protective genomic legal relationship.
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- 2021
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19. Skin Microbiota Content in Children and its Effect on Acne Pathogenesis
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Larisa S. Kruglova, Natalia V. Gryazeva, and Anait V. Tamrazova
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acne ,microbiome ,microbiota ,cutibacterium acnes ,genome ,sequencing ,Pediatrics ,RJ1-570 - Abstract
Acne is a common chronic inflammatory skin disease in adolescence. The involvement of cosmetically important zones inevitably leads to decrease in our patients' quality of life. This review considers modern methods of skin microbiota analysis, describes the microorganisms' composition in newborns and its changes during growing-up. Cutibacterium acnes (that dominates in the microbiota of skin areas with sebaceous glands) role in acne pathogenesis is described.
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- 2021
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20. Comparative characteristics of human betaherpesviruses 6A and 6B. A modern view on the problem
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M. I. Popkova, O. V. Utkin, and D. A. Bryzgalova
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hhv6a ,hhv6b ,chromosomal integration ,disease ,reactivation ,epidemiology ,prevalence ,genome ,Infectious and parasitic diseases ,RC109-216 - Abstract
This review is devoted to the comparative characteristics of human herpesvirus 6A (HHV6A) and human herpesvirus 6B (HHV6B), taking into account their exogenous and endogenous (inherited chromosomally integrated) forms. The analysis of the literature data on the main interspecies differences and intraspecies features of these viruses in molecular-genetic, biological, epidemiological and clinical aspects has been consistently carried out. Modern views about HHV6A and HHV6B, including their unique inherited chromosomal-integrated form, are the basis for organizing a system of epidemiological surveillance of infections caused by these viruses, as well as developing standardized methodological approaches to differential diagnosis, treatment and specific prevention of a wide range of virus-associated diseases. The development of this direction requires a greater evidence base and intensification of joint efforts of the scientific and medical communities.
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- 2021
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21. Monitoring the spread of the SARS-CoV-2 (Coronaviridae: Coronavirinae: Betacoronavirus; Sarbecovirus) variants in the Moscow region using targeted high-throughput sequencing
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N. I. Borisova, I. A. Kotov, A. A. Kolesnikov, V. V. Kaptelova, A. S. Speranskaya, L. Yu. Kondrasheva, E. V. Tivanova, K. F. Khafizov, and V. G. Akimkin
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coronavirus ,coronavirus infection ,sars-cov-2 ,next generation sequencing ,covid-19 ,genome ,strains ,Microbiology ,QR1-502 - Abstract
Introduction. Since the outbreak of the COVID-19 pandemic caused by SARS-CoV-2 novel coronavirus, the international community has been concerned about the emergence of mutations altering some biological properties of the pathogen like increasing its infectivity or virulence. Particularly, since the end of 2020, several variants of concern have been identified around the world, including Alpha (B.1.1.7), Beta (B.1.351), Gamma (P.1), and Delta (B.1.617.2). However, the existing mechanism of detecting important mutations are not always effective enough, since only a relatively small part of all pathogen samples can be examined by whole genome sequencing due to its high cost. Material and methods. In this study, we have designed special primer panel and used it for targeted highthroughput sequencing of several significant S-gene (spike) regions of SARS-CoV-2. The Illumina platform averaged approximately 50,000 paired-end reads with a length of ≥150 bp per sample. This method was used to examine 579 random samples obtained from COVID-19 patients in Moscow and the Moscow region from February to June 2021. Results. This study demonstrated the dynamics of distribution of several SARS-CoV-2 strains and its some single mutations. It was found that the Delta strain appeared in the region in May 2021, and became prevalent in June, partially displacing other strains. Discussion. The obtained results provide an opportunity to assign the viral samples to one of the strains, including the previously mentioned in time- and cost-effective manner. The approach can be used for standardization of the procedure of searching for mutations in individual regions of the SARS-CoV-2 genome. It allows to get a more detailed data about the epidemiological situation in a region.
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- 2021
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22. Current Views on the Genetic Markers of Post-Traumatic Stress Disorder
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Faustova A.G.
- Subjects
post-traumatic stress disorder ,psychological trauma ,psychological resilience ,genome ,single nucleotide polymorphism ,Medicine - Abstract
The article summarizes empirical studies on the problem of genetic predisposition to post-traumatic stress disorder. It is showed that the development of some symptoms of post-traumatic stress disorder is caused by neurobiological mechanisms, the functioning of which depends on the expression of specific genes. Differences in the effectiveness of the use of certain types of psychological assistance can also be associated with the influence of genetic factors. A review of the most relevant patterns is presented. More specifically, this is the effect of the gene of brain-derived neurotrophic factor (BDNF) as well as the genes of serotonergic (SLC6A4, SLC6A3), dopaminergic (DRD2, COMT), hypothalamic-pituitary-adrenal (FKBP5, ADCYAP1) systems on the manifestation of symptoms of post-traumatic stress disorder. Based on the results of genome-wide association studies, assumptions are made about the role of genes (RORA, NLGN1, TLL-1, PARK2, PODXL, SH3RF3, and ZDHHC14) in the pathophysiology of post-traumatic stress disorder. The issue of the applicability of genetic testing in the practice of psychological assistance to individuals with post-traumatic stress disorder is considered. The question of the applicability of genetic testing to improve the diagnosis and development of a personalized strategy for clinical and psychological intervention is discussed.
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- 2021
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23. Signatures of selection and candidate genes for adaptation to extreme environmental factors in the genomes of Turano-Mongolian cattle breeds
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N. S. Yudin, A. A. Yurchenko, and D. M. Larkin
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cattle ,bos taurus ,bos indicus ,turano-mongolian cattle ,adaptation ,genome ,selection signatures ,cold ,immunity ,highlands ,Genetics ,QH426-470 - Abstract
Changes in the environment force populations of organisms to adapt to new conditions, either through phenotypic plasticity or through genetic or epigenetic changes. Signatures of selection, such as specific changes in the frequency of alleles and haplotypes, as well as the reduction or increase in genetic diversity, help to identify changes in the cattle genome in response to natural and artificial selection, as well as loci and genetic variants directly affecting adaptive and economically important traits. Advances in genetics and biotechnology enable a rapid transfer of unique genetic variants that have originated in local cattle breeds in the process of adaptation to local environments into the genomes of cosmopolitan high-performance breeds, in order to preserve their outstanding performance in new environments. It is also possible to use genomic selection approach to increase the frequency of already present adaptive alleles in cosmopolitan breeds. The review examines recent work on the origin and evolution of Turano-Mongolian cattle breeds, adaptation of Turano-Mongolian cattle to extreme environments, and summarizes available information on potential candidate genes for climate adaptation of Turano-Mongolian breeds, including cold resistance genes, immune response genes, and high-altitude adaptation genes. The authors conclude that the current literature data do not provide preference to one of the two possible scenarios of Turano-Mongolian breed origins: as a result of the domestication of a wild aurochs at East Asia or as a result of the migration of taurine proto-population from the Middle East. Turano-Mongolian breeds show a high degree of adaptation to extreme climatic conditions (cold, heat, lack of oxygen in the highlands) and parasites (mosquitoes, ticks, bacterial and viral infections). As a result of high-density genotyping and sequencing of genomes and transcriptomes, prospective candidate genes and genetic variants involved in adaptation to environmental factors have recently been identified.
- Published
- 2021
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24. Current notions about etiopathogenic and genetics specific features of Сlostridium perfringens toxins
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Yu. V. Lobzin, A. S. Kvetnaya, N. V. Skripchenko, and L. I. Zhelezova
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review ,clostridium рerfringens ,enterotoxin ,pore-forming toxins ,close contacts ,claudin ,genome ,chromosomes ,plasmids ,Microbiology ,QR1-502 - Abstract
The review presents modern data on the genetics and etiopathogenetic features of Clostridium perfringens toxins, including the role of Clostridium perfringens enterotoxin, in the development of food poisoning and a number of intestinal diseases in humans, animals and birds.
- Published
- 2021
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25. RETRACTED: High-throughput sequencing in diagnostics and prevention of herpes simplex virus infection (Herpesviridae, Alphaherpesvirinae, Simplexvirus, Human alphaherpesvirus 1)
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O. V. Sergeyev, R. E. Bosh’ian, and I. F. Barinsky
- Subjects
herpes simplex virus ,molecular diagnostics ,genome ,variability ,highthroughput sequencing ,hts ,next generation sequencing ,whole genome sequencing ,pcr ,metagenomics ,Microbiology ,QR1-502 - Abstract
RETRACTED Herpes simplex viruses types 1 (HSV-1) and 2 (HSV-2) are among the most common viruses in the human population. The clinical manifestations of HSV infection vary widely, which necessitates reliable molecular methods for the timely diagnosis of herpes virus infection, as well as for detection of mutations in the genes responsible for drug resistance. PCR is often unable to detect HSV isolates with nucleotide substitutions at the primer binding site. Sanger sequencing of the whole genome reveals mutations mainly at the consensus level, which accumulate at advanced stages of viral infection. High-throughput sequencing (HTS, next generation sequencing) offers an obvious advantage both in early diagnosis of herpes virus infection and identification of HSV variants.
- Published
- 2020
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26. NGS sequencing in barley breeding and genetic studies
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I. V. Rozanova and E. K. Khlestkina
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hordeum vulgare ,snp ,barley ,genome ,sequencing ,throughput genotyping ,genomic editing ,Genetics ,QH426-470 - Abstract
Barley (Hordeum vulgare L.) is the one of the most important cereal species used as food and feed crops, as well as for malting and alcohol production. At the end of the last century, traditional breeding techniques were complemented by the use of DNA markers. Molecular markers have also been used extensively for molecular genetic mapping and QTL analysis. In 2012, the barley genome sequencing was completed, which provided a broad range of new opportunities – from a more efficient search for candidate genes controlling economically important traits to genomic selection. The review summarizes the results of the studies performed after barley genome sequencing, which discovered new areas of barley genetics and breeding with high throughput screening and genotyping methods. During this period, intensive studies aimed at identification of barley genomic loci associated with economically important traits have been carried out; online databases and tools for working with barley genomic data and their deposition have appeared and are being replenished. In recent years, GWAS analysis has been used for large-scale phenotypegenotype association studies, which has been widely used in barley since 2010 due to the developed SNP-arrays, as well as genotyping methods based on direct NGS sequencing of selected fractions of the genome. To date, more than 80 papers have been published that describe the results of the GWAS analysis in barley. SNP identification associated with economically important traits and their transformation into CAPS or KASP markers convenient for screening selection material significantly expands the possibilities of marker-assisted selection of barley. In addition, the currently available information on potential target genes and the quality of the whole barley genome sequence provides a good base for applying genome editing technologies to create material for the creation of varieties with desired properties.
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- 2020
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27. Microbial Antibiotic Resistance
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K. A. Vinogradova, V. G. Bulgakova, A. N. Polin, and P. A. Kozhevin
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microorganisms ,genome ,resistome ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,RC254-282 - Abstract
The known conceptions of resistome as a complex of all the antibiotic resistance genes in the genomes of all the microorganisms, pathogenic and nonpathogenic ones, in nature are considered. The data on the origin, evolution and distribution of antibiotic resistance genes and possible approaches to the resistance distribution control are presented.
- Published
- 2020
28. INTEGRAL ANALYSIS OF GENOMIC AND TRANSCRIPTOMIC CHANGES IN CLEAR CELL RENAL CELL CARCINOMA IN THE RUSSIAN POPULATION
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S. A. Solodskikh, A. V. Panevina, A. G. Novikova, J. D. Dvoretskaya, M. V. Gryaznova, A. A. Starkov, A. Yu. Maslov, A. A. Mikhailov, K. Khinolupos, and V. N. Popov
- Subjects
cancer ,microarrays ,mutations ,genome ,transcript ,renal cell carcinoma ,kidney cancer ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,RC254-282 - Abstract
Renal cell carcinoma (Rcc) is the most common form of kidney cancer, accounting for about 90 % of cancers in the kidney. clear cell renal cell carcinoma (ccRcc) is the most common histological type of Rcc. clear cell renal cell carcinoma is characterized by specific genomic and transcriptomic aberrations in the tumor. We performed a targeted sequencing of key oncogenes and a genome-wide expression study in 58 patients with Rcc belonging to a population of the western part of the Russian Federation. the integrative analysis of genomics and transcriptome data revealed that the NFkβ nuclear complex, ERBB2 receptor, and tP53 transcription factor were the key regulators of observed changes in the expression. We also carried out the analysis of the mutational landscape in key genes associated with cancer. We found the difference in the molecular mechanisms of Rcc between different populations, since the detected expression regulators were not previously described as expression mediators in Rcc. since the ERBB2 receptor is a highly attractive target for therapeutic interventions of breast cancer, we will eventually be able to develop new treatment modalities for Rcc.
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- 2020
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29. [Comparative analysis of the taxonomic classification criteria for a number of groups of pathogenic DNA and RNA viruses based on genomic data].
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Sizikova TE, Lebedev VN, and Borisevich SV
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- Phylogeny, Humans, Animals, Genomics methods, RNA, Viral genetics, Genetic Variation, RNA Viruses genetics, RNA Viruses classification, Genome, Viral, DNA Viruses genetics, DNA Viruses classification
- Abstract
The basis for criteria of the taxonomic classification of DNA and RNA viruses based on data of the genomic sequencing are viewed in this review. The genomic sequences of viruses, which have genome represented by double-stranded DNA (orthopoxviruses as example), positive-sense single-stranded RNA (alphaviruses and flaviviruses as example), non-segmented negative-sense single-stranded RNA (filoviruses as example), segmented negative-sense single-stranded RNA (arenaviruses and phleboviruses as example) are analyzed. The levels of genetic variability that determine the assignment of compared viruses to taxa of various orders are established for each group of viruses.
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- 2024
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30. Non-toxigenic strains of Vibrio cholerae biovar El Tor, isolated in the territory of Russia: molecular-genetic peculiarities and pathogenic properties
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E. Yu. Agafonova, N. I. Smirnova, Zh. V. Alkhova, Ya. M. Krasnov, L. F. Livanova, Yu. V. Lozovsky, and V. V. Kutyrev
- Subjects
vibrio cholerae ,non-toxigenic strains ,genome ,snp-analysis ,pathogenicity ,Microbiology ,QR1-502 - Abstract
Aim. Comparative analysis of the sequenced on our own effort genomes of non-toxigenic strains with different set of pathogenicity genes and assessment of their virulence on the model of intestinal inoculation of newborn rabbits. Materials and methods. Whole-genome DNA sequencing of 26 strains was carried out using semiconductor sequencing technology. Haemolysin and hemagglutinin-protease production was evaluated applying conventional methods. Virulence of the strains for newborn rabbits was determined through intraluminal inoculation at the dose of 107 CFU/ml. Results. On the basis of whole genome analysis of ctxA-tcpA+ and ctxA-tcpA- non-toxigenic strains, differences in composition and structure stability of mobile elements associated with pathogenicity have been identified. Significant differences in nucleotide sequences of hlyA, hapA, and rtxA genes, encoding production of additional pathogenicity factors, have also been detected. The paper provides the results of assessment of their phylogenetic relations. Experiments on animal models have confirmed the inability of non-toxigenic ctxA-tcpA+ and ctxA-tcpA- strains to cause the development of typical cholera infection. Conclusion. New data on the genome structure of different non-toxigenic strains and their phylogenetic relations have been obtained. Based on the results of inoculation of animal models with cells of non-toxigenic strains with the studied genome the inference is drawn on their inability to cause the development of typical cholera infection.
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- 2019
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31. Progress in plant genome sequencing: research directions
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M. K. Bragina, D. A. Afonnikov, and E. A. Salina
- Subjects
plants ,sequencing approaches ,genome ,exome sequencing ,targeted sequencing ,Genetics ,QH426-470 - Abstract
Since the first plant genome of Arabidopsis thaliana has been sequenced and published, genome sequencing technologies have undergone significant changes. New algorithms, sequencing technologies and bioinformatic approaches were adopted to obtain genome, transcriptome and exome sequences for model and crop species, which have permitted deep inferences into plant biology. As a result of an improved genome assembly and analysis methods, genome sequencing costs plummeted and the number of high-quality plant genome sequences is constantly growing. Consequently, more than 300 plant genome sequences have been published over the past twenty years. Although many of the published genomes are considered incomplete, they proved to be a valuable tool for identifying genes involved in the formation of economically valuable plant traits, for marker-assisted and genomic selection and for comparative analysis of plant genomes in order to determine the basic patterns of origin of various plant species. Since a high coverage and resolution of a genome sequence is not enough to detect all changes in complex samples, targeted sequencing, which consists in the isolation and sequencing of a specific region of the genome, has begun to develop. Targeted sequencing has a higher detection power (the ability to identify new differences/variants) and resolution (up to one basis). In addition, exome sequencing (the method of sequencing only protein-coding genes regions) is actively developed, which allows for the sequencing of non-expressed alleles and genes that cannot be found with RNA-seq. In this review, an analysis of sequencing technologies development and the construction of “reference” genomes of plants is performed. A comparison of the methods of targeted sequencing based on the use of the reference DNA sequence is accomplished.
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- 2019
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32. Preterm birth: from understanding of pathogenesis to pregnancy management
- Author
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V. S. Belousova, A. N. Strizhakov, E. V. Timokhina, O. A. Svitich, I. M. Bogomazova, and E. G. Pitskhelauri
- Subjects
preterm birth ,pathogenesis ,gene polymorphism ,cytokines ,genome ,Gynecology and obstetrics ,RG1-991 - Abstract
Preterm birth is an important issue in the current obstetrics as it is associated with perinatal morbidity and mortality. Today, most studies are aimed at understanding of the pathogenesis of preterm delivery. The known data on cytokine gene polymorphism indicate that in women with preterm birth, the presence of pro-inflammatory dominant alleles is typical. This may lead to increased production of pro-inflammatory cytokines in the utero-placental complex and may also initiate preterm delivery. At present, studies are under way to identify genes that determine the duration of the gestation period. A better understanding of the preterm birth pathogenesis is expected to help prevent this unfortunate outcome and decrease perinatal morbidity and mortality.
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- 2019
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33. Molecular Epidemiological Screening of the Genome of the Strain Coxiella burnetii NL3262 (Netherlands, 2009) Using Formal Order Analysis
- Author
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S. N. Shpynov, A. S. Gumenyuk, N. N. Pozdnichenko, and A. A. Skiba
- Subjects
coxiella burnetii ,q fever ,epidemiology ,genome ,formal order analysis ,matrix of similarity ,map of genes ,average remoteness ,Epistemology. Theory of knowledge ,BD143-237 - Abstract
Background. More than 4,000 cases of acute disease in humans were reported during the mass Q fever outbreak in the Netherlands in 2007–2010. The Coxiella burnetii NL3262 strain was isolated during this outbreak from an aborted placenta of a goat and was studied using means of molecular biology and bioinformation techniques. Goals. Approbation of a new bioinformatics approach – formal order analysis – to study the origin of the strains that caused a massive outbreak of Q fever in the Netherlands using the C. burnetii NL3262 strain. Methodology. New tools of the formal order analysis (FOA) «Map of Genes» and «Matrix of Similarity» (available at http://foarlab. org) were used in this work to study the degree of similarity of the genome (chromosome, plasmid) of this strain with the genomes of other strains of C. burnetii. The nucleotide sequences of the chromosomes of 10 C. burnetii strains and 8 plasmids were loaded from GenBank: www.ncbi.nlm.nih.gov/genome. Results. The map of genes data showed that the chromosome of NL3262 strain significantly distanced from the chromosome of other strains by the characteristic of the average remoteness of nucleotides in the chromosome (g) that ranged from 1.448295 (for Dugway 5J108-111) to 1.448865 1.449640 (for CbRSA331). This may be due to the presence of 106 copies of the «transposase family IS110» gene associated with the growth of virulence, while in the chromosomes of other strains their number ranged only from 1 to 48. The similarity matrix showed that 84.9% of C. burnetii NL3262 chromosome components had complete (100%) homology with chromosome components of strain Z3055. The percentage of similar components ranged from 12.06 to 47.14 for chromosomes of other strains. Plasmids of the pQpH1 type of strains NL3262 and RSA 331 contained 50.0% of components with complete homology. For the same type of plasmids of strain RSA 493 and its clones, the index varied from 28.89 to 29.89%, and for plasmids of other types it was from 5.56 to 6.74%. It is shown that the chromosomes of strains NL3262 and Z3055 have the highest percentage of components with complete homology. However, by the g index, chromosomes of these strains are significantly distanced from each other, due to the large number of copies of IS110 in the chromosome of strain NL3262, which caused the formation of 21 collinear blocks. This led to a change in the properties of the Q fever outbreak strains in the Netherlands and the increase in their epidemiological significance, which caused the largest outbreak in the history of the study of this infection. Conclusions. The results of the study, obtained on the basis of the application of formal order analysis, made it possible to make an assumption about the origin of the strains of Q fever in the Netherlands in 2007–2010. It is shown that the leading reason in the reorganization of the C. burnetii genome is the adaptation of the microorganism to a new ecological niche.
- Published
- 2019
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34. ISOLATION AND PHYLOGENETIC ANALYSIS OF FELINE CALICIVIRUS IN SIBERIA
- Author
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T. I. Glotova, O. V. Semenova, A. A. Nikonova, A. G. Glotov, Y. V. Vyatkin, and A. A. Bondar
- Subjects
feline calicivirus ,clinical signs ,genome ,polymerase chain reaction ,the second open reading frame ,sequencing ,phylogenetic analysis ,vaccination ,Microbiology ,QR1-502 - Abstract
The results of the study of the distribution of calicivirus infection in a population of domestic cats of different breeds, contained individually or the group method, the virus isolation in the cell culture and a comparative phylogenetic analysis of their nucleotide sequences with published sequences of reference field and vaccine strains of Feline calicivirus (FCV) from other countries: USA, Germany, Japan, China and Korea are presented. Clinical signs of infection were found in 14.3% of the animals examined. After several passages in the primary kidney cells of the kitten embryo, seven cytopathogenic isolates FCV were isolated: 1 - from a cat with an acute infection, 5 - subclinical infection, 1 - systemic infection. They were adapted to continuous FK-81 cells in which they reached a maximum infectious activity of 10.0 1.15 lg TCD 50 / cm3. Based on the sequence analysis of the open reading frame 2 region of the viral genome Eshli strain showed a close relationship with strain KM016908 from China with the identity of the nucleotide sequences between them of 81.0%. The results of the investigations showed that FCV isolates obtained from animals on the territory of Siberia are genetically different from strains included to imported vaccines used to prevent disease in Russian Federation and also among themselves. This causes a decrease in the effectiveness of preventive measures. In nurseries that do not have contacts and connections between themselves but located in the same geographic region FCV populations may have some genetic differences. A close relationship of some field isolates with strains from other countries geographically located so far from the Siberian region has been revealed. Studies on the molecular epizootology of caliciviruses are important in the development of test systems and the monitoring of the spread of strains in Russia.
- Published
- 2018
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35. PLASMIDS OF ARCHAEA AS POSSIBLE ANCESTORS OF DNA-CONTAINING VIRUSES
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D. K. Lvov, T. E. Sizikova, V. N. Lebedev, and S. V. Borisevich
- Subjects
review ,plasmids ,archaea ,vesicles ,genome ,gene ,dna ,viruses ,structural proteins ,cell membranes ,Microbiology ,QR1-502 - Abstract
Тhе kingdom Archaea, as well as Bacteria, belongs to the overkingdom Prokaryota. Halophilic archaea (Halorubrum lacusprofundi) isolated from Antarctic saline lakes contain plasmids (pR1SE) that code proteins taking part in the formation of membranes of archaea vesicles. The molecular and biological properties of pR1SE and the peculiarity of its interaction with sensitive cells are considered in this article. The role of structural proteins coded by pR1S in the process of formation of vesicle membrane complex is paid special attention. Plasmid-containing archaea vesicles model some properties of viruses. Archaea plasmids can be viewed as possible ancestors of DNA-containing viruses.
- Published
- 2018
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36. MOLECULAR-GENETIC MECHANISMS OF PLASMODIUM FALCIPARUM VIRULENCE AND TROPICAL MALARIA PATHOGENESIS
- Author
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A. N. Uskov, A. I. Soloviev, V. Yu. Kravtsov, R. V. Gudkov, E. V. Kolomoets, and A. E. Levkovskiy
- Subjects
malaria ,p. falciparum ,pfemp1 ,molecular and genetic diagnostics ,genome ,virulence ,pathogenesis ,Infectious and parasitic diseases ,RC109-216 - Abstract
There is introduced the analysis of molecular-genetic mechanisms of tropical malaria pathogenesis and P. falciparum virulence. It is shown, that pathogenesis of tropical malaria is associated with the properties of red blood cells membrane surface (RBCs or erythrocytes) that are infected by P. falciparum. There are «knobs structures» on membrane surface infected RBCs. Knobs structures contains a complex of P. falciparum proteins – PfEMP1 (Plasmodium falciparum erythrocyte membrane protein 1). PfEMP1 is associated with virulence of P. falciparum. Complex PfEMP1 has difficult polymorphous structure. Domains of PfEMP1 are able to associate with different cell receptors. Virulence`s individual components of the main factor are selectively sensitive to different tissues and organs. The severity of the clinical malaria infection course depends on the complex structure PfEMP1 of malaria parasites. Composition of polypeptide PfEMP1 is determined by var-complex. Nowadays there are 60 variants of var-complex. Regulation of gene expression, forming part of the var-complex, is carried out on a molecular-genetic level, cellular level, tissue level. Modern research in this area are aimed to explore genes polymorphism of the virulence`s main factor, to identify mechanism of its differential expression. Search of molecular – genetic markers is relevant to develop methods of gene diagnostic and malaria vaccine.
- Published
- 2018
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37. ANALYSIS OF MONITORING STUDIES ON AFRICAN SWINE FEVER VIRUS DNA DETECTION CARRIED OUT IN 2017
- Author
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D. N. Fedoseyeva, Ye. V. Aronova, A. A. Varentsova, A. A. Yelsukova, Ali Mazloum, D. V. Sharypova, N. N. Vlasova, and A. S. Igolkin
- Subjects
african swine fever ,monitoring studies ,genome ,real-time polymerase chain reaction ,Veterinary medicine ,SF600-1100 - Abstract
The paper describes the results of testing of biomaterial from domestic pigs and wild boars by real-time PCR used for African swine fever virus genome detection, carried out in the FGBI “Federal Centre for Animal Health” (Vladimir). In 2017 8,500 samples from 44 subjects of the Russian Federation were tested within the framework of the state laboratory monitoring. African swine fever virus genome was detected in 504 samples. In 2017 ASF outbreaks were registered in the Urals and Siberian Federal Districts of the RF for the first time. The conducted research and persistent ASF infection in the territory of the RF have demonstrated the need for further surveillance in the populations of susceptible animals. Development, organization and implementation of the program for ASF spread surveillance in wild fauna remains a high priority. It is necessary to create and implement sampling schedules with uniform sampling of biomaterial and submission of the collected samples to the research laboratories for timely ASF outbreak containment at the regional level.
- Published
- 2018
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38. From bacteriuria to the urinary tract microbiome: the evolution of the views of researchers and clinicians
- Author
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I. N. Zakharova, I. M. Osmanov, E. В. Machneva, Е. B. Mumladze, A. N. Kasyanova, and M. Р. Aisanova
- Subjects
urinary tract infection ,bacteriuria ,uropathogens ,urine microbiome ,genome ,cytokines ,interleukins ,pathogenicity islands ,virulence factors ,escherichia coli ,toll-like receptors ,Medicine - Abstract
The preservation of the human urinary tract integrity in interaction with microorganisms depends on the balance of many components: the viability of nonspecific protective factors of the urinary tract mucosa, the virulence factors of microorganisms, the intensity of the innate immune response of the urinary tract tissue to the presence of microorganisms, the mutual impact of the microand macro-organism upon each other that is directed towards creation of a normal microbiome, and not inflammation. Most of these factors are genetically determined both by microorganisms and humans. The article presents modern data of Russian and foreign literature devoted to the description of factors supporting the homeostasis of the urinary tract in interacting with microorganisms. The authors emphasise a key role of these data in the practice of clinicians, including paediatricians and paediatric nephrologists, family doctors.
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- 2018
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39. GENOMOSYSTEMATICS OF RICKETTSIAE
- Author
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S. N. Shpynov, N. N. Pozdnichenko, A. S. Gumenyuk, and A. A. Skiba
- Subjects
rickettsiae ,rickettsioses ,systematics ,ecology ,epidemiology ,virulence ,genome ,formal order analysis ,genomosystematics ,Infectious and parasitic diseases ,RC109-216 - Abstract
The definition of the term genome was given by the German botanist G. Winkler almost one hundred years ago in 1920. A genome definition for bacterial (rickettsia) with a single chromosome was recently presented from the perspective of information theory, biology and bioinformatics as the information chain of nucleotides. The systematics of rickettsiae (obligate intracellular microorganisms) is based on a limited number of phenotypic characters. Classifications built on the analysis of genes, fragments of genomes and their concatenations cause discussion. Application of the Formal Order Analysis (FOA, http://foarlab.org) in the study of complete genomes allowed to submit the systematics of representatives of the family Rickettsiaceae. This approach confirmed the existence of typhus group (TG), spotted fever group (SFG), and an «ancestral» group within the genus Rickettsia, and allowed the isolation of the Rickettsia felis group within this genus, located between the «ancestral» group and the SFG and the R. akari group on the border between the SFG group and the genus Orientia. The development of the tools of FOA — «Map of Genes» and «Matrix of Similarity» — helped to conduct an in-depth study of the complete genomes of rickettsia, taking into account the characteristics of their genes and noncoding sequences. Application of these instruments, with the help of the obtained classification, confirmed the notion of ecological features of rickettsia, the structure of nosological forms and the epidemiological patterns of rickettsiosis, and made it possible to assess the virulence of the strains of the two most pathogenic species of rickettsia, R. prowazekii and R. rickettsia. In this work, for the first time, a holistic, consistent and multidimensional observation of a set of closely related bacteria (a family of bacteria) and the manifestations associated with them was carried out. The basis of the developed and herein described systematic approach to the study of bacteria is a new mathematical model — the arrangement of nucleotides in a complete genome and its sensitive unambiguous numerical characteristics. A new methodological approach named genomosystematics and based on mathematical modeling of complete genomes of rickettsiae (bacteria) using FOA. Classification of rickettsiae and rickettsioses obtained with the help of this approach corresponds to ecological, epidemiological and etiological principles. Application of the genomosystematics can serve the goals and objectives of preventive medicine. The publication completes a series of scientific works presenting the methodology of an integrated approach based on the application of mathematical analysis tools in the study of objects and laws of natural science disciplines of biological and medical profile.
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- 2018
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40. PHYLOGENETIC ANALYSIS OF BOVINE PESTIVIRUSES DETECTED IN SIBERIA
- Author
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A. G. Glotov, S. V. Koteneva, T. I. Glotova, A. G. Yuzhakov, R. A. Maksyutov, and A. D. Zaberezhnyy
- Subjects
5´-нетранслируемый регион ,viral diarrhea-mucosal disease ,bvdv1 ,bvdv2 ,atypical pestivirus (bvdv3) ,subtypes ,cattle ,polymerase chain reaction ,genome ,5'-untranslated region ,nucleotide sequencing ,phylogenetic analysis ,molecular epizootology ,Microbiology ,QR1-502 - Abstract
The results of phylogenetic analysis of three species of bovine pestiviruses circulating in six regions of Siberia, as well as those detected in fetal embryonic serum (FBS) and continuous cell cultures, are presented. The typing was made based on comparison of sequences from the 5' untranslated region (5'-UTR) of the viral genome. Among the highly productive dairy cattle, circulation of five subtypes of the BVDV1 (a, b, d, f, r) and BVDV2 was established. The predominant subtype was 1b (48% positive samples). The number of subtypes of BVDV1 was as follows: BVDV1: 1а (8%), 1b (48%), 1d (8%), 1f (16%) и 1r (8%) and BVDV2 (12%). Cell cultures revealed BVDV1a. The distribution of types and subtypes of viruses had geographical differences. BVDV1b, BVDV1d, BVDV1f и BVDV1r were detected in cattle or persistently infected (PI) animals in farms with respiratory distress. BVDV 1a revealed in the serum of PI heifer without manifestation of clinical symptoms. BVDV2 were detected in cattle with pathology of reproduction. The presence of the BVDV3 (atypical pestivirus) of the Italian group was established in seven lots of FBS obtained from two manufacturers. No evidence has been found for circulating of the atypical virus among cattle of various breeds, including imported, reindeers and red deers. Studies on the molecular epizootology of pestiviruses can be used to select and optimize the control strategy and address the issue of vaccine use in a particular region.
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- 2018
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41. DETECTION OF LUMPY SKIN DISEASE VIRUS GENOME IN FIELD SAMPLES COLLECTED FROM CATTLE IN THE RUSSIAN FEDERATION
- Author
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A. V. Kononov, A. V. Sprygin, S. V. Kononova, A. A. Nesterov, P. V. Prutnikov, Ye. Ye. Artyukhova, Ye. S. Kostrova, and I. N. Shumilova
- Subjects
lumpy skin disease ,real-time pcr ,genome ,sample ,Veterinary medicine ,SF600-1100 - Abstract
Results of laboratory tests of pathological and biological material samples for lumpy skin disease virus genome with the FGBI “ARRIAH” lumpy skin disease real-time PCR test system are presented. Samples were collected from cattle in 16 regions of the Russian Federation in 2016–2017. A total of 848 stabilized blood, serum, skin (nodule) scrape, nasal washing samples were tested. In the process of antemortem diagnosis lumpy skin disease virus genome was detected in nasal washings (29.2%), serum (19.5%) and stabilized blood (24.4%). Lumpy skin disease virus genome was detected in skin lesion samples (77.7% of cases) during postmortem diagnosis. No lumpy skin disease virus genome was detected in trachea, spleen and aborted fetus samples. Thus, in case of lumpy skin disease suspicion serum and nasal washing samples shall be tested first for antemortem diagnosis, while nodules (lumps) shall be primarily tested for postmortem diagnosis.
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- 2018
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42. IMPLEMENTATION OF 454 LIFE SCIENCES TECHNOLOGY LABORATORY PRACTICES
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N. G. Zinyakov, Ye. V. Ovchinnikova, S. P. Lazareva, A. A. Kozlov, and I. A. Chvalas
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infectious bronchitis ,infectious laryngotracheitis ,fowl adenovirus ,avian adeno-associated virus ,genome ,nucleic acids ,sequencing ,Veterinary medicine ,SF600-1100 - Abstract
He article demonstrates possibility of using highly productive pyrophosphate sequencing, also known as 454 Life Sciences technology for investigation of highly variable and understudied infectious viral agents. Genome-wide nucleotide sequences of infectious bronchitis virus, infectious laryngotracheitis virus, fowl adenovirus C, and avian adenoassociated virus were determined. Recombinations in infectious bronchitis genome were identified, structural and point mutations in fowl adenovirus genome were detect ed. Infectious laryngotracheitis virus and avian adeno-associated virus genome structure was characterized.
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- 2018
43. BIOPHYSICAL BASES OF GENOME ORGANIZATION
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AN N Volobuev, ES S Petrov, and NP P Romanchuk
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genome ,nucleotide sequence ,markov’s chains ,bayesian information criterion ,sequencing ,Medicine - Abstract
Aim - the analysis of nucleotide sequences of DNA molecules and the bases of the information storage with the help of DNA. Material and methods - the study is based on Markov chain theory and Bayesian Information Criterion. Results. Principles of genetic code construction were investigated. Specific nucleotide sequences were analyzed using Markov chain theory; the method of sequencing nucleotide sequences was described. Conclusion. A nucleotide sequence has certain restrictions associated with complementarity of the bases along DNA chain. These restrictions at the level of triplet sequence can be eliminated by degeneracy of the genetic code.
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- 2017
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44. On the human nature (following in the steps of Belyaev)
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A. L. Markel
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humans ,anthropogenesis ,evolution ,genome ,culture ,Genetics ,QH426-470 - Abstract
This article was inspired by some works of Belyaev in which he discussed the biosocial human nature, and is dedicated to the 100 year anniversary of Belyaev’ birth. The main views and theories of the human nature and the main paths of genome and culture evolution during anthropogenesis are overviewed. The views of the leading past and present world-wide scientists on the basic principles of the genome-culture interactions are discussed. The seeming contradictions between “geneticists” and “sociologists” are resolved due to the development of the concept of co-evolution of the genome and culture. The evolution of genes and culture is a whole, but not separate processes. During their evolution, humans modify and reconstruct their sociocultural environment. The new environment creates new selection vectors and forms new ways and directions for genetic evolution. In response to the culture development, the genetic determination of human cognitive processes also changed. A good example of the co-evolution of culture and the genome is the development of human speech, the voice and mimic apparatus of communication. The vital importance of the new possibilities for social communication in human populations disposes to the fixation of genetic features that facilitate such communication. At the early stages of human evolution, the areas of the cerebral cortex that were responsible for the development of speech expanded and reorganized. The point of genome-culture co-evolution is well illustrated by niche construction theory. It is emphasized that the evolution of culture, which is widely regarded as a non-biological phenomenon, is quite similar in all its respects to the Darwinian process, as a result of which a sociocultural environment that is adaptive for a given community is formed through selection and transmission in a series of generations. In fact, we are talking about epigenetic inheritance in the evolution of culture and morality. The review details the views and theoretical concepts of geneticists, sociologists, social psychologists, anthropologists, behaviorists and ethologists in explaining the phenomenon of human evolution. Some contradictions caused by different rates of evolution of culture and genome are considered. In conclusion, it is shown that Belyaev’s interpretation of the biosocial nature of humans finds confirmation in modern studies by geneticists, sociologists and psychologists.
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- 2017
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45. Application of Omics Technologies in the System of Sports Training
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E.A. Semenova, E.V. Valeeva, E.A. Boulygina, S.I. Gubaydullina, and I.I. Ahmetov
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and further development of omics technologies ,have opened new opportunities in studying the molecular mechanisms underlying the sport success. According to modern concepts of functional genomics ,it is believed that individual differences in the degree of development of physical and mental qualities ,as well as in the susceptibility to different diseases of athletes are largely due to DNA polymorphisms. Genetic markers associated with the development and manifestation of physical qualities (speed ,strength ,endurance ,agility ,flexibility) can be used in the sports selection system ,to clarify sports specialization and to optimize the training process. Other molecular markers (methyl groups ,transcripts ,telomerase activity ,telomeres ,circulating DNA ,metabolites ,proteins ,etc.) in addition to predicting athletic performance ,allow assessing the current functional state of the athlete ,including the phenomenon of overtraining. The purpose of this review is to provide data on the use of genomic ,epigenetic ,transcriptomic ,proteomic and metabolic methods in sports talent identification ,assessing the current functional status of athletes and in the prescription of personal training and nutrition programs. Future research ,including multicentre genome-wide association studies and whole-genome sequencing in large cohorts of athletes with further validation and replication ,DNA polymorphism ,genome ,epigenome ,transcriptome ,proteome ,metabolome ,biomarkers ,sports selection ,Science - Abstract
Deciphering the human genome, and further development of omics technologies, have opened new opportunities in studying the molecular mechanisms underlying the sport success. According to modern concepts of functional genomics, it is believed that individual differences in the degree of development of physical and mental qualities, as well as in the susceptibility to different diseases of athletes are largely due to DNA polymorphisms. Genetic markers associated with the development and manifestation of physical qualities (speed, strength, endurance, agility, flexibility) can be used in the sports selection system, to clarify sports specialization and to optimize the training process. Other molecular markers (methyl groups, transcripts, telomerase activity, telomeres, circulating DNA, metabolites, proteins, etc.) in addition to predicting athletic performance, allow assessing the current functional state of the athlete, including the phenomenon of overtraining. The purpose of this review is to provide data on the use of genomic, epigenetic, transcriptomic, proteomic and metabolic methods in sports talent identification, assessing the current functional status of athletes and in the prescription of personal training and nutrition programs. Future research, including multicentre genome-wide association studies and whole-genome sequencing in large cohorts of athletes with further validation and replication, will substantially contribute to the discovery of large numbers of the causal genetic variants (mutations and DNA polymorphisms) that would partly explain the heritability of athlete status and related phenotypes.
- Published
- 2017
46. Diversity and distribution of mobile genetic elements in marine invertebrates genomes
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M. V. Puzakov, L. V. Puzakova, and I. K. Zakharov
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dna ,genome ,mobile genetic elements ,mge ,transposons ,retrotransposons ,variation ,biological diversity ,species ,hydrobionts ,marine invertebrates ,Genetics ,QH426-470 - Abstract
Mobile genetic elements (MGE) play an important role in genome structure and gene expression changes. All types of MGE are subdivided to two classes – retrotransposons and DNA-transposons. MGE were found in genomes of all main taxa of marine invertebrates and are represented by both classes. MGEs were found in genomes of Cnidaria species: Aurelia aurita, Acropora millepora, A. palmata, A. digitifera, Nematostella vectensis. MGE were studied in two flatworms (Platyhelminthes) species - Stylochus zebra and Bdelloura candida. In Annelida taxa, MGE were studied for Capitella capitata species. Echinodermata were represented in the review study by species Strongylocentrotus purpuratus, S. franciscanus, S. drobachiensis, Tripneustes gratilla, Lytechinus pictus, L. variegatus, Arbacia punctulata, and Eucidaris tribuloides. A quantity of MGE in Mollusca was studied for following species: Mytilus galloprovincialis, Chione cancellata, Crassostrea gigas, C. virginica, Anadara trapezia, Aplysia californica, Gibbula cineraria, Littorina littorea, and L. saxatilis. The type of Arthropoda is the most studied for MGE presence. MGE presence was studied for following Arthropoda species: Bythograea thermydron, Ventiella sulfuris, Maia brachydactila, Cancer pagurus, Pachygrapsus marmoratus, Penaeus monodon, P. vannamei, Litopenaeus stylirostris, Agononida laurentae, Galathea squamifera, Munida acantha, M. thoe, M. gregaria, M. zebra, Munidopsis recta, Eumunida annulosa, E. sternomaculata, and Rimicaris exoculata. A part of Chordata taxon, which is not included in Vertebrata subtupe, was studied too. This part was represented in the review by species Ciona intestinalis, Oikopleura dioica, and Branchiostoma floridae. A diversity of MGEs and their characters and its role in ontogenesis, in evolution and in changes of functions of genes and genomes were discussed.
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- 2017
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47. Achievements and prospects of applying high-throughput sequencing techniques to potato genetics and breeding
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I. V. Bykova, N. A. Shmakov, D. A. Afonnikov, A. V. Kochetov, and E. K. Khlestkina
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databases ,genes ,genome ,markers ,potato ,rnaseq ,solanum tuberosum ,sequencing ,transcriptome ,Genetics ,QH426-470 - Abstract
In recent years, marker-assisted selection (MAS) has been intensively used to increase potato breeding efficiency. Large-scale studies of the potato genome and genes exploiting next-generation sequence (NGS) approaches are required for broad application of MAS, genomic selection as well as genomic editing (the newest approach for creating potato with desired properties). In this review, trends in potato NGS-based research are overviewed, and related Internet resources are systematized. Special attention is given to peculiarities of the models and the approaches used in potato genetic studies, taking into account the complex organization of its genome and a high level of heterozygosity. In genetic studies diploids are used often, including diploid potato species, artificially obtained heterozygous dihaploids and homozygous double monoploids. The availability of artificially created diploid forms played an essential role in potato genome sequencing, which was completed in 2011. The Potato Genome Sequencing Consortium activities included not only constructing genome libraries, sequencing, assembling and annotation of the genome, but also genome sequence-based investigations uncovering features of potato genome evolution, SNP identification, analysis of genes and gene networks regulating resistance to phytopathogens and technological characteristics. An important outcome of the genome sequencing was further identification of more than 8 thousand SNPs and approbation of the Genotyping-by-sequencing (GBS) method on potato, which is the basis for potato genomic selection and for discovery of economically important genes using genome wide association studies (GWAS). Optimization of existing bioinformatic tools to support these studies, taking into account potato genome organization peculiarities, are carried out. This review gives analysis of databases containing potato genome and transcriptome sequencing results, as well as accompanying resources. This information should prove useful while planning comparative assays of potato transcriptome or application of DNA-markers. Sequencing of the genome as well as transcriptomes and microRNomes of cultivated potato and its wild relatives, on one hand, is of fundamental interest, assisting in detecting features of genome evolution, ontogenetic development and mechanisms of various environmental stresses responses. On the other hand, it is the basis for a wide range of practical applications for developing effective genomic and gene-specific markers and marker-assisted breeding of new potato cultivars with desired properties.
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- 2017
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48. Functional Insights into Genic Neighbourhood Organization of Helitron Transposons in Bos taurus Genomes
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Anna V. Babii, Svetlana N. Koval’chuk, Tat’iana T. Glazko, Valerii I. Glazko, and Gleb I. Kosovskii
- Subjects
Bos taurus ,helitrons ,genes ,genome ,functions ,breeds ,Biotechnology ,TP248.13-248.65 ,Biology (General) ,QH301-705.5 - Abstract
Transposable elements (TEs) represent well-known factors of genomic variability and evolution. TEs are important providers of regulatory elements that are able to significantly influence the architecture and expression of the host genome. Currently, of a special interest are the DNA transposons helitrons. They are supposed to be involved in horizontal transfer of genetic material between distant taxa and to dramatically impact the host genomes via phenomena of exon-shuffling and gene capture. Thereby, and due to their high level of polymorphism and relatively high frequency in the eukaryotic genomes, helitrons can be used as “anchors” for genome scanning of different breeds of farm animals aimed at revealing their “gene pool standards”. Currently, there are no comprehensive studies dedicated to helitrons and their interaction and impact on host genomic landscape in cattle (Bos taurus). Earlier we showed the possibility of using the 3’-end consensus sequence of Heligloria helitrons for estimation of consolidation of different cattle breeds via multilocus genotyping. In the present study, in order to investigate the context features of the DNA regions flanked by the inverted repeats of Heligloria helitrons fragments in Bos taurus genomes, we pyrosequenced such fragments (of about 550 bp in length) from three cattle breeds and analyzed the functional implications of the identified genes. Thus, here we provide an insight into the functional organization of the genic neighbourhood of helitron transposons in the genomes of different Bos taurus breeds and an attempt to understand possible consequences of such distribution of helitrons on these genomes
- Published
- 2017
49. «Vanishing heritability» – a new paradox in the context of an old problem
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Mariutina T.M.
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heritability ,gene ,genome ,genetic polymorphism ,allele variants ,population studies ,Psychology ,BF1-990 - Abstract
«Vanishing heritability» is a linguistic metaphor, reflecting the phenomenonof noncoincidence between impact assessments for the operation of the genotype of the psyche in norm and pathology, which are fixed in two different methods: population-related and molecular-genetic. On the one hand, population-based studies of kinship (twins, siblings, parents-children), when assessing their cognitive and personality traits, have received high values of the basic statistic index - heritability. On the other hand, the molecular-genetic research has shownthat certain genetic polymorphisms cannot explain a large part ofheritabilityof this kind of psyche both in normal and pathology. The article deals with the background of the problem, examines the possible causes of this phenomenon and the ways out of the situation.
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- 2016
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50. [The Proteome of Extracellular Membrane Vesicles from Bacillus pumilus 3-19].
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Kurdy W, Zelenikhin PV, Yakovleva GY, Sinyagina MN, Kolpakov AI, and Ilinskaya ON
- Subjects
- Ribonucleases metabolism, Ribonucleases genetics, Phosphates metabolism, Drug Resistance, Bacterial genetics, Endoribonucleases, Bacillus pumilus metabolism, Bacillus pumilus genetics, Bacillus pumilus enzymology, Extracellular Vesicles metabolism, Extracellular Vesicles genetics, Proteome metabolism, Bacterial Proteins metabolism, Bacterial Proteins genetics
- Abstract
Production of extracellular membrane vesicles plays an important role in communication in bacterial populations and in bacteria-host interactions. Vesicles as carriers of various regulatory and signaling molecules may be potentially used as disease biomarkers and promising therapeutic agents, including vaccine preparations. The composition of membrane vesicles has been deciphered for a limited number of Gram-negative and Gram-positive bacteria. In this work, for the first time, extracellular membrane vesicles of a streptomycin-resistant strain Bacillus pumilus 3-19, a producer of extracellular guanyl-preferring ribonuclease binase, are isolated, visualized, and characterized by their genome and proteome composition. It has been established that there is no genetic material in the vesicles and the spectrum of the proteins differs depending on the phosphate content in the culture medium of the strain. Vesicles from a phosphate-deficient medium carry 49 unique proteins in comparison with 101 from a medium with the high phosphate content. The two types of vesicles had 140 mutual proteins. Flagellar proteins, RNase J, which is the main enzyme of RNA degradosomes, phosphatases, peptidases, iron transporters, signal peptides, were identified in vesicles. Antibiotic resistance proteins and amyloid-like proteins whose genes are present in B. pumilus 3-19 cells are absent. Phosphate deficiency-induced binase was found only in vesicles from a phosphate-deficient medium.
- Published
- 2024
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