bluuebunny/crossref_metadata_2025 huggingface dataset:
Quantification and visualization of US racial geography using the National Racial Geography Dataset 2020
Authors: Dmowska Anna , Stepinski Tomasz
Published: April 2024

Racial geography studies the spatial distributions of multiracial populations. Technical challenges arise from the fact that US Census data, upon which all US-based studies rely, is only available in the form of spatial aggregates at a few levels of granularity. This negatively affects spatial analysis and, consequently, the quantification of racial segregation, especially on a smaller length scale. A recent methodology called the Racial Landscape (RL) stochastically disaggregates racial data at the level of census block aggregates into a grid of monoracial cells. RL-transformed racial data makes possible pattern-based, zoneless analysis and visualization of racial geography. Here, we introduce the National Racial Geography Dataset 2020 (NRGD2020) — a collection of RL-based grids calculated from the 2020 census data and covering the entire conterminous US. It includes a virtual image layer for a bird's-eye-like view visualization of the spatial distribution of racial sub-populations, numerical grids for calculating racial diversity and segregation within user-defined regions, and precalculated maps of racial diversity and segregation on various length scales. NRGD2020 aims to facilitate and extend spatial analyses of racial geography and to make it more interpretable by tightly integrating quantitative analysis with visualization (mapping).
A Review of Alex Blanchette, Porkopolis: American Animality, Standardized Life, and the Factory Farm. Durham, NC: Duke University Press, 2020, 320 pp.
Authors: Petryakov Stepan
Published: April 2024

The book depicts a dynamic experiment in industrializing the pork industry in the post-industrial United States. The author demonstrates how in the heart of the Global North corporations seek to create and maintain the life of a standardized industrial pig which serves as a source material for more than a thousand commodities. “Porkopolis” introduces the reader to the workplaces of a factory farm that changes the daily lives of workers and the hierarchy of humans and non-humans. Thereby it opens the possibility of reimagining life shared with other species. A rich ethnography, equally sensitive to both phenomenology and the political economy of labor, challenges some aspects of contemporary Euro-American common sense. Industrialization as a basic feature of the capitalist mode of production still plays a fundamental role in agriculture, and changing the basis of industrial food production is not possible by transforming individual consumption practices.
A Review of Alexandr Davydov, Pavel Abramov, Etnografiya tufty: kto i kak pishet zakaznye raboty v Rossii [The Ethnography of a Scam: Who Writes Commissioned Essays in Russia, and How They Do It]. Moscow: Social Research Support Fund “Khamovniki”; Common Place, 2021, 176 pp.
Authors: Gerasimova Anna
Published: April 2024

The book tells about the market for educational ghostwriting in Russia and about its participants, called scriptors. The authors themselves also participate in this activity, and address this topic through their own experience in a form of autoethnography, and through other people’s experience in interviews. The interviews and personal experience of the authors demonstrate the motives for entering this industry, the peculiarities of working in it, the pragmatics of commissioned ghostwriting, the formation of small groups and communities of scriptors, and their social trajectories within the industry and after leaving it. The authors also describe the structure and functioning of commercial associations of scriptors of various types, such as cooperatives, marketplaces, etc. A special place is given to the connection between scriptors and universities, as well as how exactly Russian universities determine the emergence of such а type of income as academic ghostwriting. Unfortunately, for all the interest of the material, and the significance of the first attempt to describe the field of Russian academic ghostwriting, the book is written rather haphazardly, and its elaboration lacks structure.
Crossing Borders. Russian Stand-up: Local and Global Meanings
Authors: Omelchenko Dmitry
Published: April 2024

Stand-up comedy is one of the brightest youth scenes of modern Russia, rapidly gaining popularity over the last decade. This genre of modern laugh culture rarely gets the attention of either foreign or domestic scholars and researchers. This article focuses on the career strategies of stand-up comedians, the peculiarities of their communication with audiences in the context of the formation of the stand-up scene in contemporary Russia in comparison with the formats of humor and laugh culture characteristic of the Soviet and post-Soviet times. The uniqueness of the Russian stand-up experience will be revealed through the analysis of characteristic style markers associated with the genre: the liminality / transboundary nature of the emerging culture, the high mobility of stand-up artists, creative collaborations, and touring exchanges within and between cities in their native regions. As a theoretical framework, the construct of youth cultural scene is used as the most adequate to the case under the study. The empirical base of the article is 15 semi-structured interviews with participants in the stand-up scene, non-participant observation of stand-up performances, and the textual analysis of blogs of stand-up comedians. The case study material was collected as part of a large-scale research project aimed at tracing the migration strategies and life plans of talented young people in the Northwestern Federal District of Russia.
Rhetoric of Repairs: Pathos Analysis of Joe Biden’s Victory Speech
Authors: Bhusal Purna Chandra
Published: April 2024

This paper aims to explore pathos, the prominent emotional appeal, in Joe Biden’s presidential victory speech delivered on 7 November 2020 at Wilmington in the United States of America. The speech was delivered upon the conclusion of the presidential race between Donald Trump and Joe Biden, wherein Biden led the election with 306 electoral votes against Trump’s 232. The paper is informed by three objectives: how Biden’s speech seeks to arouse certain emotions in the audience, what emotions in the audience are triggered, and how those emotions assist Biden in successfully delivering his intent of repair and reconciliation by persuading his audience, the American people. To fulfill these objectives, employing the method of a rhetorical analysis, the paper explicates the speech investigating how the lexical choices in the victory speech appeal to specific feelings and emotions of the audience. The analysis concludes that Biden, the orator, warrants reconstruction and reconciliation by appealing to seven dominant emotions: confidence, trust, optimism, (in)gratitude, empathy, camaraderie, and American pride. Hence, the paper demonstrates the fundamentals of doing a rhetorical analysis and further motivates some aspirants seeking a career in script writing and oratory.
Olive-tree physiological response to biotic and abiotic stress fruit yield, oil quality and tolerance to Anthracnose
Authors: Conde Innamorato Ana Paula , Borsani Cambón Julio Omar , Ponce de León Inés
Published: April 2024

The olive tree is highly tolerant to water deficit and in humid climate regions, such as Uruguay, the need to irrigation is questioned. However, Uruguay's climate is characterized by high interannual variability, resulting in periods of water deficit. In the event of a water deficit, plants trigger a series of defense mechanisms to maintain cellular homeostasis, including increased antioxidant enzyme activity and cuticle thickening to prevent transpiration. These responses are common during abiotic stress and biotic stress caused by pathogen infections. Anthracnose, caused by the Colletotrichum complex, is a major disease in olive trees, leading to reduced fruit yield and oil quality. Mild drought stress has been found to activate the basal defense response, enhancing plant tolerance to pathogen infections. Therefore, the hypothesis was that exposing olive plants to moderate water deficit during the lipogenesis stage would trigger the basal defense response, increasing fruit tolerance to biotic stress caused by Colletotrichum acutatum. The study also examined whether this response was sustained under moderate water deficit. Results showed that water deficit induced anatomical and biochemical changes in olive fruits, promoting anthracnose tolerance with reduced incidence and severity of C. acutatum infection both in vitro and in vivo. Fruit weight and pulp/pit ratio decreased in response to water deficit, while cuticle thickness and fruit polyphenol content increased. An induction of enzymes related to hydrogen peroxide scavenging were observed, in particular PER and CAT. This enzymatic activity was induced by the pathogen inoculation treatment and was higher in the non-irrigated treatment. Severe water deficit resulted in significant reductions in fruit weight and oil content, but the fruits exhibited enhanced tolerance to anthracnose infection.
On the Intimacy of Empty Spaces: A Conversation between Lotte Louise de Jong and Antonia Hernández
Authors: Hernández Antonia , de Jong Lotte
Published: April 2024

This article details a conversation between Lotte de Jong and Antonia Hernández, two artists who investigate the intimacy of online platforms, discussing Lotte de Jong’s artwork. Through an exploration of sex webcam platforms, De Jong’s work highlights the spatial dimension of online intimacy, interrogating its various degrees of visibility and questioning how people engage with, imagine, occupy, or resist them.
INFLUENCE OF VOLTAGE ASYMMETRY ON THE ENERGY CHARACTERISTICS OF CRUSHERS
Authors: Sinyavsky O. , Savchenko V.
Published: April 2024

As the conducted studies show, deviations and voltage asymmetry have the greatest impact on the electric drives of production machines and mechanisms.

Voltage asymmetry leads to losses that have an electromagnetic and technological component.

Studies on the effect of voltage asymmetry on the technological characteristics of working machines and mechanisms have shown that with voltage asymmetry, the angular speed of the motor decreases, which will lead to a decrease in their productivity. However, there are no studies on the influence of voltage asymmetry on the energy characteristics of crushers.

The purpose of the research is to determine the influence of voltage asymmetry on the energy characteristics of crushers.

With voltage asymmetry, constant and variable losses in an asynchronous electric motor change.

It is proposed to carry out an energy assessment of crushers based on the specific consumption of electricity.

The influence of voltage asymmetry on the energy characteristics of crushers was studied. The dependence of the specific power consumption on the change in stiffness of the mechanical characteristics of the electric motor, which is due to voltage asymmetry, is obtained. It was established that slippage and power losses increase with voltage asymmetry. As a result, the specific consumption of electricity in crushers increases.
THE LEVEL OF THERMAL COMFORT IN THE TRANSITION AND SUMMER PERIOD FOR PRESCHOOL EDUCATIONAL INSTITUTION
Authors: Buyak N. , Sapunov A.
Published: April 2024

Modern cities are trying to actively reduce energy consumption and carbon emissions during construction, directing their efforts towards achieving sustainable environmental balance. The issue of thermal comfort is becoming increasingly important in the global context, especially in the context of a rapid reduction in energy consumption. The purpose of this study is to assess the level of thermal comfort for the most sensitive segments of the population, in particular preschool children, during the transition and summer periods of the year. Using computer modeling, we determined the energy demand for cooling and additional heating during the transition period at different levels of thermal protection of buildings and different coefficients of clothing resistance. The results of the study confirm that improving the thermal protection of buildings and optimizing temperature control systems, taking into account the thermal resistance of clothing, will maintain the level of thermal comfort, measured by the PMV indicator, within the recommended range of -0.5...+0.5. This will help create comfortable conditions for the most sensitive segments of the population. However, it is important to note that such improvements are accompanied by an increase in energy consumption for heating during the transition period at 11.5% of total energy costs. Thus, these results emphasize the need for a balanced approach to ensuring thermal comfort and optimizing energy consumption in buildings for the most sensitive segments of the population.
Assessment of the development of Lactuca sativa Batavia Aficion in hydroponic and aquaponic systems
Authors: Polоviу Volodymyr , Kolesnyk Tatiana , Maiboroda Khrystyna
Published: April 2024

The need to improve the methods of growing plants in hydroponic systems to ensure optimal conditions for their growth and achieve high yields is urgent. The purpose of this study was to compare the hydroponic production of Lactuca sativa Batavia Aficion using a conventional Knop nutrient solution compared to aquaponics using nutrient-rich fish water. Laboratory, potentiometric, and photometric methods were used for this purpose. The yield, biometric, and qualitative indicators of lettuce leaves were investigated. Despite the lower nutrient concentration in the aquaponic solution, the nutritional status of Lactuca sativa Batavia Aficion was within the optimal range. The nitrate content of lettuce grown in the aquaponics system was higher than in hydroponics, but there were no significant differences in the content of total N (3.24% and 2.97%), Mg (1,973 mg/kg and 1,943 mg/kg), Fe (93.91 mg/kg and 93.83 mg/kg), K (73.7 mg/kg and 73.6 mg/kg), and Ca (19.5 mg/kg and 20.1 mg/kg). The yield of Lactuca sativa Batavia Aficion on aquaponics was 2.8 kg / m2 and 3.2 kg m2 – on hydroponics, with a density of 36 plants per square metre. Water monitoring in the aquaponic system showed low concentrations of nitrates, phosphorus (P), potassium (K), and magnesium (Mg), but the proportion of mineral nutrients and pH were stable throughout the lettuce growing period. Lettuce leaves in the aquaponics system reached a fresh weight of 80 g in 34 days, which is on average 13% less than lettuce leaves in the hydroponics system. The EC (electrical conductivity) values recorded in this study in a hydroponic system were between 1.2 and 1.5 cm/m. In the aquaponic system, EC has higher values due to the low rate of water replacement, contributing to greater growth and accumulation of solution ions. However, due to continuous recirculation in the water, the conditions become satisfactory for growing plants. The results obtained can contribute to the creation of more efficient and sustainable agricultural systems, reducing resource consumption and improving the resistance of cultivated crops to various stressful conditions
Assessment of the influence of mineral fertilisers on the phosphate regime of meadow chernozem carbonate soil and yield of sunflower and winter wheat
Authors: Tonkha Oksana , Pak Olga , Kozak Volodymyr , Hryshchenko Oleg , Pikovska Olena
Published: April 2024

The relevance of the study lies in the need to maintain optimal levels of mobile phosphorus in carbonate soils to support healthy plant growth and development, as it can be converted into less mobile forms in such soils. The purpose of the study was to assess the impact of various long-term fertilisation strategies on the content of various forms of phosphorus in the soil to improve this availability. The research was conducted in 2019-2022 as a stationary experiment in a separate division of the National University of Life and Environmental Sciences of Ukraine “Agronomic Experimental Station” in Kyiv Oblast on meadow chernozem carbonate low-humus coarse-sawn light loamy soil in a five-field crop rotation, where the influence of different levels of fertiliser saturation (no fertiliser, minimum, average, and optimal) on soil phosphate status and yield of Etana winter wheat variety and Sumiko sunflower hybrid was investigated. Soil samples were taken from the 0-20 and 20-40 cm layers, and the group and fractional composition of phosphates was determined using the Chang-Jackson method and the content of mobile phosphates using the Chirikov and Machigin methods. According to the analysis of the group and fractional composition of soil phosphates, it was found that in meadow chernozem carbonate low-humus coarse-sawn light loamy soil, the content of iron phosphates prevails among all fractions during long-term fertilisation. The results showed an increase in the content of aluminium phosphates in the 0-20 cm surface layer of the soil of two variants with long-term fertilisation, and an increase in the content of the second fraction of soluble calcium phosphates (Ca-PII), with the minimum saturation (N27P18K20) with the highest available phosphate fraction for plants (Ca-PI) is observed. The content of mobile phosphates was maximal at optimal fertiliser saturation (N81P54K62) and was 4.8 and 8.5 mg/100 g of soil, the aftereffect of organic fertilisers positively affected the accumulation of mobile phosphates in the soil. The highest yield of winter wheat (7.55 t/ha) and sunflower (4.28 t/ha) was obtained with optimal fertiliser saturation, the lowest – without the use of fertilisers, where it was 4.45 t/ha for winter wheat and 2.23 t/ha for sunflower. The results of the study can be used to develop more sustainable and effective strategies for using phosphorus in soils, which can help preserve soil resources and prevent possible contamination of water sources due to excessive phosphorus intake
Familial Chiari malformation: a systematic review and illustrative cases
Authors: Dhawan Alaina , Dhawan Jillian , Sharma Ajay N. , Azzam Daniel B. , Cherry Ahmed , Fehlings Michael G.
Published: April 2024

OBJECTIVE

Chiari malformations (CMs) are a group of congenital or acquired disorders characterized by hindbrain overcrowding into an underdeveloped posterior cranial fossa. CM is considered largely sporadic—however, there exists growing evidence of transmissible genetic underpinnings. The purpose of this systematic review of all familial studies of CM was to investigate the existence of an inherited component and provide recommendations to manage and monitor at-risk family members.

METHODS

This paper includes the following: 1) a unique case report of dizygotic twins who presented at the Toronto Western Hospital Spinal Cord Clinic with symptomatic CM type 1 (CM-1) and syringomyelia; and 2) a systematic review of familial CM. The EMBASE and MEDLINE databases were searched on June 27, 2023, in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Only articles in the English language concerning the diagnosis of CM in > 1 human family member presented as a case study, case series, or literature review were included.

RESULTS

Among the 29 articles included in the final analysis, a total of 34 families with CM were analyzed. An average of 3 cases of CM were found per family among all generations. Eighty-one cases (88%) reported CM-1, whereas the other 11 (12%) cases reported either CM-0, CM-1.5, or tonsillar ectopia. A syrinx was present in 37 (54%) cases, with 14 (38%) of these patients also reporting a skeletal abnormality, the most common comorbidity. Most family members diagnosed with CM were siblings (18; 35%), followed by monozygotic twins/triplets (12; 23%).

CONCLUSIONS

Patients most often presented with headaches, sensory disturbances, or generalized symptoms. Overall, there exists mounting evidence for a hereditary component of CM. It is unlikely to be explained by a classic mendelian inheritance pattern, but is rather a polygenic architecture influenced by variable penetrance, cosegregation, and entirely nongenetic factors. For first-degree relatives of those affected by CM, the authors’ findings may influence clinicians to conduct closer clinical and radiographic monitoring, promote patient education, and consider earlier genetic testing.
Structure and Diversity of Tc1/mariner Transposons in the Genome of the Jellyfish Aurelia aurita
Authors: Ulupova Yu. N. , Puzakova L. V. , Puzakov M. V.
Published: April 2024

Transposable elements, DNA transposons and retrotransposons are DNA sequences capable of movement within the genome. It is assumed that they play one of their key roles in adaptive and evolutionary processes. One of the most studied groups of DNA transposons is the infraclass ITm, and in particular the superfamily Tc1/mariner. In this work, we considered the representation, structure, and evolution of Tc1/mariner DNA transposons in the jellyfish Aurelia aurita. It was found that the predominant proportion of Tc1/mariner elements of the jellyfish is represented by the TLE family. A new subfamily of TLE elements called Aurum has been identified. In addition, two groups of elements VS-aura and VS-beplau were found in the Visitor family, which are probably also separate subfamilies. Analysis of the structure and diversity of Tc1/mariner elements showed that at the moment Tc1/mariner transposons in the jellyfish genome are at the stage of degradation and elimination. Almost all elements are deleted or have structural changes, and, accordingly, do not have potentially functional copies.
The Function of the NBAS Has Been Revealed, Will the Same Happen with Its Multisystem Pathologies?
Authors: Zhozhikov L. R. , Vasilev F. F. , Maksimova N. R.
Published: April 2024

Mutations in the NBAS gene cause two groups of diseases – SOPH-syndrome and Infantile liver failure syndrome type 2 (ILFS2, RALF), which differ in clinical manifestations, course, and prognosis. In the current review we focused on clinical and genetic aspects of these pathologies and molecular biology of the NBAS protein, its retrograde membrane traffic and nonsense-mediated RNA decay.
Geographic Variability in the Frequency of B Chromosome Occurrence in the Wood Mice Sylvaemus flavicollis of Eastern Europe
Authors: Borisov Yu. M. , Kryshchuk I. A. , Borisova Z. Z.
Published: April 2024

The karyotypes of 95 individuals (57 males and 38 females) of the yellow-throated mouse (Sylvaemus flavicollis Melchior, 1834), caught at seven points in Eastern Europe, were studied. Only one individual had one extra chromosome. It was shown that in Sylvaemus flavicollis in the surveyed sites from the central part of the range (Eastern Europe), the frequency of occurrence of individuals with B chromosomes is very low and probably does not depend on the ecological conditions of habitats.
Antocyanidin-3-O-Glucosyltransferase Genes in Pepper (Capsicum spp.) and Their Role in Anthocyanine Biosynthesis
Authors: Filyushin M. A. , Shchennikova A. V. , Kochieva E. Z.
Published: April 2024

In pepper (Capsicum spp.), anthocyanins are important not only for the photolabile compounds protection, but also for the regulation of fruit color pattern. Anthocyanidin-3-O-glucosyltransferases (UFGTs) play a key role in the biosynthesis of stable anthocyanins. In this work, the structure and phylogeny of three pepper UFGT homologue genes are characterized. Biochemical analysis of C. annuum cultivars (cv. Syrenevii cube, Othello and Sibiryak) and C. frutescens (cv. Samotsvet), which differ in the pattern of fruit pigmentation during ripening, showed the presence of anthocyanins in leaves and fruit peel of all accessions (except for the cv. Sibiryak fruit). The highest anthocyanins content was found in the purple leaves of the cv. Samotsvet. In the fruit peel of all accessions, the anthocyanins content decreased with ripening. Expression analysis of the same tissues showed that UFGT1 (LOC107843659) and UFGT2 (LOC107843660) transcripts are present in the leaves of all cultivars. In the fruit peel, UFGT1 transcripts were detected at maturation stages 1 (cv. Syrenevii cube and Othello) and 1–3 (cv. Samotsvet), while UFGT2 transcripts were found in all accessions with the maximum in the cv. Sibiryak, where anthocyanins were absent. Transcripts of the MBW complex (anthocyanin2, MYC, and WD40), which regulates the biosynthesis of anthocyanins, were present in the leaves of all cultivars with a maximum in the purple leaves of the cv. Samotsvet. Comparison of biochemical and expression data revealed a positive correlation between the amount of anthocyanins in fruit peel and leaves and UFGT1 expression level. For UFGT2 such correlation was no found. Analysis of UFGT1 sequence, including the promoter region, in 18 pepper cultivars that differ in fruit color pattern, revealed sequence invariance, regardless of the color of the immature fruit. Analysis of the UFGT1 and UFGT2 promoter sequences of the showed differences in the composition of cis-regulatory elements involved in response to stress and hormones, and in MYB and MYC transcription factors binding sites.
Putative Locus for Cranial Size Variability of the Fox (Vulpes vulpes)
Authors: Kharlamova A. V. , Shikhevich S. G. , Vladimirova A. V. , Kukekova A. V. , Efimov V. M.
Published: April 2024

Skull morphology was studied in three populations of red foxes (Vulpes vulpes): tame, which was produced by long-term selection for friendly behavior to humans; aggressive, which was produced by long-term selection for aggressive behavior to humans; and conventional farm-bred, which was not deliberately selected for behavior. We have collected skulls measurements from two sets of foxes: (1) 140 backcross foxes produced by breeding of tame and aggressive foxes to each other and then crossing F1 foxes to tame strain, and (2) 150 foxes from original populations (50 tame, 50 aggressive and 50 conventional farm-bred). The backcross foxes have been genotyped with 350 microsatellite markers and analyzed using 2B-PLS analysis. A significant correlation between microsatellite genotypes and skull shape was identified for three microsatellite markers on 10-th fox chromosome: FH2535, RVC1, REN193M22. The second set of foxes (tame, aggressive and conventional) was genotyped for these three markers and also analysed with 2B_PLS. Significant correlation was identified between genotypes and skull size for males, but not for females. The genomic region identified in this study contains IGF-1 gene, which is responsible for 15% of body size variation in dogs. Our findings suggest that IGF-1 gene is also involved in skull size regulation in red foxes.
Pathogenetics of Cardiomyopathy
Authors: Kucher A. N. , Sleptcov A. A. , Nazarenko M. S.
Published: April 2024

This review summarizes the current state of knowledge on the genetic factors of both primary or Mendelian cardiomyopathies (CMPs) and some of its secondary forms. Dozens of genes with pathogenic/probably pathogenic variants have been described for primary CMPs. In most cases, the spectrum of causal genetic variants is specific for different CMPs, but shared genes and variants are also discovered. On the one hand genetic causes of diseases have not been established for all cases of primary CMPs, but on the other hand pathogenic variants in Mendelian disease genes are also found for its secondary forms. The genetic component in the development of both primary and secondary CMPs was also established during genome-wide association studies (GWAS). Single nucleotide polymorphisms (SNPs) associated with both primary and secondary CMPs are in most cases specific for different types of disease and make a small contribution to an individual’s overall risk. The link between some SNPs and electro- or echocardiogram features of the normal heart has been reported in the population. Most of the CMPs-associated SNPs are localized in non-coding regions of the genome, but they have a regulatory potential, acting in the heart as loci that affect the level of expression (eQTL), splicing (sQTL) or epigenetic modifications. It is noteworthy that the effects of the eQTL and sQTL genotypes in some cases are not equivalent for different anatomical regions of the heart. The phenotype and clinical presentation of CMPs in general can be determined by a wide range of rare pathogenic/probably pathogenic variants with a strong effect and common polymorphisms with a small effect and modified by epigenetic factors.
Experimental Evaluation of the Possibility to Detect Cross-Contaminated DNA Samples Based on Genetic Data
Authors: Feliz N. V. , Grammatikati K. S. , Mitrofanov S. I. , Grebnev P. A. , Konureeva K. D. , Maralova E. D. , Erokhina M. V. , Shpakova T. A. , Kazakova P. G. , Akhmerova Yu. N. , Mkrtchian A. A. , Snigir E. A. , Yudin V. S. , Keskinov A. A. , Yudin S. M. , Skvortsova V. I.
Published: April 2024

The problems of cross-contamination and swap samples are extremely relevant during large-scale genetic studies. In this study several approaches of detecting cross-contaminated DNA samples were checked: the ratio of reads per reference and alternative allele (allele ratio, AR), the amount of heterozygos to homozygous variants ratio, the CallRate value for the DNA microarrays data, the Picard CrosscheckFingerprints (CrossCheck) program. Contaminated samples (mixtures) were created by mixing ordinary “pure” DNA samples in different ratios. Samples’ quality parameters were analyzed after whole genome sequencing and genotyping with the Illumina microarray BeadArray technology CoreExome (CE) DNA microarray. It has been experimentally established that all of these approaches can be used to detect genotyping errors associated with sample contamination.
Elevated Level of Blood Lysosphingolipids in Patients with Schizophrenia
Authors: Kopytova A. E. , Usenko T. S. , Bezrukova A. I. , Basharova K. S. , Andreeva T. V. , Volkova E. V. , Manakhov A. D. , Baydakova G. V. , Palchikova E. I. , Zakharova E. Yu. , Zalutskaya N. M. , Neznanov N. G. , Pchelina S. N.
Published: April 2024

Schizophrenia is a mental disorder with a prevalence of 0.7–1% of the general population and is characterized by impaired dopamine transmission in neurons. Recent data have shown that lysosomal storage disorders (LSD), characterized by a decrease in enzyme activity and a corresponding accumulation of substrate in lysosomes due to mutations in lysosomal genes, can manifest a wide range of clinical symptoms including psychosis, affective disorders, early onset dementia and schizophrenia. The purpose of this study was to assess the level of lysosphingolipids in patients with schizophrenia, Parkinson’s disease (PD) and control. The study included 52 patients with schizophrenia, 170 patients with PD patients and 166 neurologically healthy individuals (control group). Concentration of lysosomal substrates (hexosylsphingosine (HexSph), globotriaosylsphingosine (LysoGb3), lysosphingomyelin (LysoSM)) were measured by high-liquid chromatography with tandem mass spectrometry (HPLC-MS/MS) in blood. An increase in the concentration of LysoSM, LysoGb3, HexSph was detected in patients with schizophrenia compared to control (p 0.0001, p 0.0001, p 0.0001, respectively). Our results confirm a violation of the lysosphingolipid composition of the blood in patients with schizophrenia.
Replication Study of GWAS-Associated Variants in the TUFM, SH2B1, ZNF638, NEGR1, ATP2A1, EXOC4, and CSE1L Genes and Cognitive Abilities
Authors: Kazantseva A. V. , Davydova Yu. D. , Enikeeva R. F. , Takhirova Z. R. , Mustafin R. N. , Lobaskova M. M. , Malykh S. B. , Khusnutdinova E. K.
Published: April 2024

To date, a large number of genome-wide association analyses (GWAS) of cognitive abilities (i.e. intelligence, educational level, executive functions, etc.) have been conducted in European populations. A replication analysis of GWAS-associated variants of the general factor of intelligence in the development of spatial (3D) abilities in the individuals from Russia is relevant. In order to estimate the main effect of the most significant GWAS loci on spatial abilities in the Russian cohort (N = 1011, 18–25 years old) a set of seven “top” SNPs (p 10–13) was formed: TUFM rs7187776, SH2B1 rs7198606, ZNF638 rs2287326, NEGR1 rs12128707, ATP2A1 rs8055138, EXOC4 rs1362739, and CSE1L rs6063353. Statistically significant differences (р 0.05) in genotype frequencies distribution of ATP2A1 rs8055138, NEGR1 rs12128707, and ZNF638 rs2287326 between Russians, Tatars, and Udmurts have been observed. As a result of analysis of genotype-by-environment interactions we revealed ethnicity-specific character of associations: in Russians maternal age at delivery (βST = 0.84, p = 0.005) and in Tatars bilingual/unilingual rearing (βST = 0.44, р = 0.020) modulated association of ZNF638 rs2287326 with spatial abilities. Moreover, urban/rural residency in childhood modulated association of TUFM rs7187776 with 3D abilities (βST = 0.41, р = 0.009). The data obtained indicate the involvement of the ZNF638, TUFM, SH2B1, and EXOC4 genes, which are responsible for adipogenesis, in the manifestation of cognitive abilities, and, therefore, confirms the relationship between cognitive and metabolic disorders. Nevertheless, ethnicity-specific character of demonstrated associations and differences in genotype frequencies of analyzed GWAS-SNPs point to the specific pattern of associated genetic loci characteristic for the Russian cohort and to the complexity of replication of data reported for the combined samples of Europeans.
Localization of Chromosomal Regions Determining Magnesium and Calcium Content in Rice Varieties
Authors: Goncharova J. K. , Simonova V. V. , Goncharov S. V. , Ochkas N. A.
Published: April 2024

There has been a wide variation in the content of micro and macro elements, both between subspecies and within rice species and varieties. Magnesium as a cofactor is involved in more than 300 enzymatic reactions and is necessary for growth and development of both plants and humans. It affects carbohydrate and protein metabolism. Both adenosine triphosphate (ATP) production, nucleotide and glucose synthesis, and lipid oxidation regulation depend on its concentration. Calcium is also essential for the formation of cell wall structure and cell division. High concentrations of calcium change the composition and condition of red blood cell membranes and cell morphological characteristics. At the same time the variability in signs of domestic rice varieties has not yet been studied. There have been no studies on the localization of chromosomal regions responsible for the formation of traits of magnesium and calcium content in rice samples. Wide variation in calcium content (0.07–2.33%) and magnesium content in rice samples (2–14%) was established. Contrasting groups of varieties and sources by signs were identified. A search for chromosomal regions determining the quality of domestic samples was carried out using 58 molecular markers distributed across the rice genome (SSR). The data on phenotyping of native rice varieties by quality signs were used to divide them into groups with maximum trait value (1) and minimum trait value (2). The relationship between phenotypic manifestation of the trait and the genotype of the sample was established: by means of analysis of variance. Eight loci determining magnesium and calcium content in native rice varieties – were identified. The loci determining magnesium content are located on chromosomes 5, 6, 7, 8. Four loci associated with calcium content were identified two on the second chromosome and one each on the eighth and fifth chromosomes. On the fifth chromosome, it is located (RM 13, 28.6 cM) in close proximity to the RM 405 marker region (28 cM), which is connected with magnesium content.
Genes of Hormone Receptors Affecting Egg Productivity and Reproductive Qualities of Chickens
Authors: Kulikov E. I. , Korshunova L. G. , Karapetyan R. V. , Komarchev A. S. , Kravchenko A. K. , Dmitrenko D. M. , Popov V. A. , Martynova V. N. , Malakheeva L. I. , Efimov D. N.
Published: April 2024

The egg production of chickens is a complex polygenic type of inheritance and is controlled by many genes. The laying performance of chickens is the result of a complex process regulated by the hypothalamic-pituitary-gonadal system. This review summarizes the information on the effect of polymorphisms of follicle stimulating hormone (FSHR), luteinizing hormone (LHCGR), progesterone (PR) and prolactin (PRLR) receptor genes on the egg production and reproductive performance of chickens. The data presented show that the polymorphisms of these genes are promising for use in breeding programs to improve egg production and reproductive performance of chickens.
Genetics and Epigenetics of Nonsuicidal Self-Injury: a Narrative Review
Authors: Kibitov А. А. , Mazo G. E.
Published: April 2024

Nonsuicidal self-injury (NSSI), or self-harm is widely spread, especially among the young people. However, despite the problem’s relevance, NSSI was investigated mainly from the psychological and social perspective, while a fairly small number of biological studies of NSSI have been published to date. The aim of this narrative review was to analyze all the currently available publications on the genetics and epigenetics of NSSI – one of the most promising areas in biological research. We discussed and analyzed all stages of genetic research of NSSI: from twin studies and studies of self-harm in the framework of hereditary diseases to candidate genes, genome-wide, epigenetic and gene-environment interactions studies. We demonstrated data indicating significant contribution of genetic and epigenetic factors to the development of NSSI, discussed advantages and limitations of analyzed studies, outlined prospects for further research in this area.
Population Genetic Structure in Polar Bears (Ursus maritimus) from the Russian Arctic Seas
Authors: Sorokin P. A. , Zvychaynaya E. Yu. , Ivanov E. A. , Mizin I. A. , Mordvintsev I. N. , Platonov N. G. , Isachenko A. I. , Lazareva R. E. , Rozhnov V. V.
Published: April 2024

Population genetic structure in polar bear (Ursus maritimus) from model areas in the Russian Arctic is considered based on materials collected in the period 2010–2021. Data on polymorphism of 17 microsatellite loci of nuclear DNA and a 610 nucleotide long mtDNA D-loop fragment were obtained for 93 animals. For the studied sample of adult polar bears, a high genetic diversity of nuclear DNA and a low value of nucleotide variability π for mitochondrial DNA were found. For all genetic markers, differentiation of bears from the southern part of the Barents Sea from animals from the north of the Barents and Kara seas was found. These groups differ in the distribution of the mitochondrial marker (θst = 0.270) and are weakly differentiated by nuclear loci (Rst = 0.018).
Transcriptomic Profiling of Placental Cells in Preeclampsia as an Effective Tool for Personalized Medicine
Authors: Trifonova E. A. , Babovskaya A. A. , Zarubin A. A. , Serebrova V. N. , Gavrilenko M. M. , Svarovskaya M. G. , Izhoykina E. V. , Kutsenko I. G. , Stepanov V. A.
Published: April 2024

At present transcriptomics is one of the fastest developing fields of molecular biology, which allows to obtain detailed information about the functional activity of the genome both in normal and pathological conditions. We used modern transcriptomic technologies to comprehensively characterize the whole genome gene expression profile of human placental syncytiotrophoblast cells (STB) in physiological pregnancy and preeclampsia (PE). As a result of our analysis, we identified 26 differentially expressed genes (DEGs) in the STB cells between healthy and diseased states. The cluster of DEGs contains not only well-known candidate genes identified earlier in many foreign whole genome studies of the placenta (for example, LEP, INHBA and FLT1), but also new genes (AC098613.1, AC087857.1, FCRLB, TENM4, PTP4A1P7, LINC01225, etc.) that can be considered as new biological markers of PE and are of interest for further study. Functional enrichment annotation indicated that most of the DEGs were implicated in the signaling pathways of regulation of hormonal secretion, MAPK cascade, ERK1 and ERK2 cascade, positive regulation of cell adhesion and proliferation of endothelial cells. These processes may be associated with the development of PE at the STB cells level. Additionally, we revealed that alternative splicing of the FLT1 gene indicate the important role of this RNA processing mechanism in the pathogenetics of PE due to a significant increase in the transcriptional diversity of genes in STB cells. The expression level of the transcript encoding the protein isoform FLT-1 e15a was significantly increased in patients with PE compared to the control group. This study expands understanding of the molecular mechanisms involved in PE and can serve as a basis for developing of preventive, prognostic and therapeutic strategies in the field of personalized obstetrics.
Sr, Nd, Pb, and Os Isotope Systematics and Derivation of Mesozoic Plume-Related Basalts of Antarctica: Karoo-Maud and Kerguelen Plume Realm
Authors: Sushchevskay N. M. , Belyatsky B. V. , Leitchenkov G. L. , Krymsky R. Sh.
Published: April 2024

The study of Re–Os isotopic systematics of the Mesozoic magmas in East Antarctica and its comparison with Sr–Nd–Pb–Os published data allowed us to reveal the main features of Antarctic magmatism associated with the activity of the Karoo–Maud (Dronning Maud Land (DML), Karoo and Ferrar provinces) and the Kerguelen (Lambert rift area) plumes. It is shown that a melt source of the 180-Ma Karoo–Maud plume could be enriched lithospheric mantle. Variations of the 187Os/188Os ratio in the range of 0.1242–0.1426 characterize almost all types of melts in the Karoo and DML provinces, including both high- and low-Ti magmas as well as high-Mg ferropicrites produced by melting of mantle pyroxenite. This observation is consistent with previous assumption that magmas derived from pyroxenite mantle at the initial stage of plume impact represented melts of deep lithospheric fragments of ancient Gondwana paleocontinent that were entrapped by plume. Thereby, mantle heterogeneity recorded in the Nd–Pb–Sr isotopic compositions of the basalts is not expressed in the systematic variations of Re–Os isotope system. The magmatic source of the basalts of the Ferrar province differs from the source of Mesozoic magmatism in the Karoo and DML provinces by great variations in the 187Os/188Os ratio: from 0.1 to 0.31, and by the lower osmium contents, with limited variations of other isotopic systems, indicating an admixture of enriched EM-II source. This is consistent with inferred subduction reworking of the mantle of the western Antarctic margin (Sushchevskaya et al., 2022). Ultramafic picritic magmas from the Lambert Glacier area are characterized by a radiogenic osmium isotopic composition: 187Os/188Os 0.1582–0.2388. Source of these magmas could be ancient depleted mantle, which later experienced mantle metasomatism due to the multiple interactions with fluid-saturated melts. Picritic melts of the paleorift zone of the Lambert Glacier are close to a magma source of the Karoo and DML provinces in terms of Sr-Nd isotopic composition, but differ in more radiogenic lead.
Biogeochemistry of Natural Organic Compounds in Terrestrial Waters: Distribution and Variability during Climate Warming
Authors: Moiseenko T. I. , Dinu M. I.
Published: April 2024

The paper discusses the distribution and origin of organic matter in natural waters with regard to the latitudinal geographic zoning in the European territory of Russia (ETR) and Western Siberia (WS) and demonstrates how conditions on the catchments and climate affect the content of autochthonous and allochthonous organic matter. Conditional coefficients of the ratios of these forms are calculated. The influence of the temperature factor on the content of autochthonous organic matter in the waters of the southern territories of the ETR and WS was proved by multivariate statistical methods of analysis. General trends and relations are identified in the distribution of lipids, proteins, and carbohydrates of the autochthonous and allochthonous organic compounds. The mechanism of biochemical transformation of bound carbohydrates of allochthonous organic compounds into free autochthonous ones via the microbial decomposition is demonstrated, which is more typical of waters in the southern regions of WS. The paper discusses how natural and climatic conditions can influence changes in concentrations of organic compounds in the lake waters and structural characteristics of these compounds (contents of aromatic and aliphatic fragments).
Geochemistry, Age, and Geodynamic Setting of the Volcanic Rocks of the Indigirka Section of the Uyandina-Yasachnaya Volcanic Belt (Northeast Asia)
Authors: Ganelin A. V. , Luchitskaya M. V. , Maskaev M. V.
Published: April 2024

The Uyandina–Yasachnaya volcano-plutonic belt (UYVB) is one of the largest structures of this type in Northeast Asia. It strikes in the north-west direction for 900 km from the upper reaches of the Kolyma River to the upper reaches of the Selenyakh River. The belt is characterized by the strong facies variability and zoning, which is expressed in a change from mafic volcanic rocks (Ilin’-Tass zone) in the northeast to felsic volcanic rocks (Darpir zone) in the southwest. Poor knowledge of the UYVB results in an ambiguous interpretation of its geodynamic nature and volcanic evolution. The paper presents new detailed geochemical, isotopic, and geochronological data on the volcanic rocks of the Indigirka section of the Darpir zone of the UYVB. The U-Th-Pb SIMS zircon dating showed that volcanic rocks of the section previously attributed to the Oxfordian–Tithonian stages have the younger age within 150 ± 2–152 ± 2 Ma, which corresponds to the Tithonian. Andesites from the section base show Ta–Nb depletion, indicator element ratios Th/Nbpm, La/Nbpm, and La/Smpm 1, and extremely low εNd = (–8), which may indicate a crustal contamination of mantle sources. Felsic volcanic rocks overlying the andesites have the postcollisional signatures. They are also characterized by the wide variations of εNd from –2.4 to –6.5 and model ages. The systematic position of the rocks in the section as well as upward increase of alkalinity and silica content from basaltic andesites to rhyolites in the upper parts of the section, which is typical of island-arc buildups, suggest that suprasubduction melts were generated beneath the collisional crust. Source of these melts could be a mantle domain that was enriched in fluid during previous subduction event.