Vavilovskii Zhurnal Genetiki i Selektsii最新文献

{"title":"Applicability of the StatFaRmer time series analysis tool in soybean (Glycine max) digital phenotyping.","authors":"D S Ulyanov, A A Ulyanova, A A Kocheshkova, A O Blinkov, A V Arkhipov, Ya S Meglitskaya, N Yu Svistunova, G I Karlov, M G Divashuk","doi":"10.18699/vjgb-26-36","DOIUrl":"https://doi.org/10.18699/vjgb-26-36","url":null,"abstract":"<p><p>Contemporary agrobiotechnology research increasingly relies on automated methods for capturing and interpreting morphophysiological and spectral plant characteristics - a field known as digital phenotyping. This approach aims to identify stable differences between genotypes cultivated under non-identical environmental conditions. We previously introduced StatFaRmer, an open-source tool that we further develop here for comprehensive analysis of temporal phenotypic datasets, with a primary focus on crops such as soybean (Glycine max). The tool implements automated data preprocessing procedures, including synchronization of timestamps across samples and removal of noise artifacts and outliers. These features are particularly relevant for multi-month experiments involving assessments of growth parameters, fluctuations in photosynthetic apparatus area, or other biometric indicators. Support for standardized data formats (XLSX, CSV) ensures compatibility with common phenotyping systems, simplifying cross-platform integration. Thus, the tool can integrate with widely used HTPP platforms (e. g., Traitmill, HyperAIxpert, Plant Accelerator), enabling data from diverse sources to be analyzed within a single pipeline. For soybean experiments, StatFaRmer provides customizable analysis of variance (ANOVA) with visualization of diagnostic parameters (normality of distribution, homogeneity of variances) and evaluation of effect significance between user-defined groups. An example application compares growth parameters across 20 soybean cultivars under controlled stress: the tool automatically aggregated data with uneven measurement frequencies (from 1 hour to 3 days), identified anomalies in hypocotyl elongation dynamics, and computed statistical significance between groups (p < 0.01).The tool has been tested on large-scale datasets (over 2,000 measurements per experiment). StatFaRmer is implemented as a Shiny-based web application, with step-by-step deployment guides for Windows and Linux. All processing stages - from raw data to final plots - are documented to ensure transparency and compliance with research reproducibility standards. Thus, StatFaRmer offers a specialized solution for statistical hypothesis testing in soybean digital phenotyping, reducing data preparation time and minimizing risks of error when handling non-stationary time series.</p>","PeriodicalId":44339,"journal":{"name":"Vavilovskii Zhurnal Genetiki i Selektsii","volume":"30 2","pages":"321-329"},"PeriodicalIF":1.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13212364/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148057382","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Analysis of PR-1, PR-2, PR-10, chitinases and chitinase-like proteins genes expression in pea roots under the action of salicylic acid and methyl jasmonate.","authors":"A M Egorova","doi":"10.18699/vjgb-26-24","DOIUrl":"https://doi.org/10.18699/vjgb-26-24","url":null,"abstract":"<p><p>Stress phytohormones - salicylic and jasmonic acids - participate in the plant defense response. The increase in the content of these compounds during plant infection by pathogens leads to the activation of signaling pathways, ultimately resulting in changes in gene expression and protein synthesis, including a group of pathogenesis-related (PR) proteins. Phytohormone-dependent so-called marker genes, are used to assess the activation of these signaling pathways. In this study, PR-1 genes, which are markers for salicylic acid signaling and expressed in pea roots, were identified and characterized, and the effects of salicylic acid and methyl jasmonate on their expression were analyzed. It was shown that in pea roots, PR-1, encoded by the Psat1g156240 gene, is among the most significantly expressed genes in the control. Salicylic acid did not cause a change in the expression of this gene; however, it was induced by methyl jasmonate after 24 h. Analysis of the expression of other genes encoding PR-1 proteins showed that salicylate had no effect on their expression after 24 and 72 h. Analysis of the expression of genes encoding chitinases and chitinase-like proteins showed that the former do not exhibit specificity in response to the salicylate and methyl jasmonate, except for the Psat1g131280, the expression of which increased after 24 and 72 h of treatment with methyl jasmonate. Genes Psat1g147600, Psat1g147560, Psat1g149120 encoding chitinase-like proteins, were barely expressed in pea roots in control, and were specifically induced by salicylic acid. β-1,3-glucanase genes were not induced in roots by the studied phytohormones. The obtained results allowed to reveal specific genes including chitinase-like proteins, the expression of which is salicylate-inducible. These genes can be used for the assessment of the activation of the salicylate-dependent signaling pathway in pea roots.</p>","PeriodicalId":44339,"journal":{"name":"Vavilovskii Zhurnal Genetiki i Selektsii","volume":"30 2","pages":"212-221"},"PeriodicalIF":1.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13150743/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147869832","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Features of connectivity of default mode network depending on polymorphism of serotonin transporter gene (5-HTTLPR).","authors":"A V Bocharov, A N Savostyanov, S S Tamozhnikov, A E Saprygin, D A Lebedkin, E A Merkulova, G G Knyazev","doi":"10.18699/vjgb-26-30","DOIUrl":"https://doi.org/10.18699/vjgb-26-30","url":null,"abstract":"<p><p>Serotonin transporter gene polymorphism is important in the regulation of the serotoninergic system that affects mood and the regulation of emotions and behavior. In this study, 128 channel electroencephalogram recordings were performed, and buccal epithelium samples were obtained from 53 volunteers (32 females). La, Lg, and S alleles were identified by polymerase chain reaction. The aim of the study was to investigate the connectivity of the default mode network, measured using resting state electrophysiologic data, depending on the serotonin transporter gene polymorphism. Localization of the sources of bioelectrical activity of the cerebral cortex was performed by the beamformer method. Comparisons of LaLa genotype carriers and S or Lg allele carriers were performed using T-contrast of connectivity indices calculated between the nodes of the default mode network and the rest of the brain. It was found that carriers of the S allele were characterized by increased connectivity of the default mode network with the visual association cortex and with structures forming the posterior node of the default mode network, as well as increased connectivity of the posterior node of the default mode network with the right parahippocampal gyrus, and this pattern of connectivity may predispose to the onset and/or maintenance of intrusive thoughts. Whereas carriers of the LaLa genotype had higher connectivity of the anterior node of the default mode network with the right ventromedial prefrontal cortex, with the medial frontal gyrus, and with the posterior cingulate cortex, which is the structure of the posterior node of the default mode network, compared to carriers of the S or Lg allele. Also, carriers of the LaLa genotype had higher connectivity of the posterior node of the default mode network with the cluster involving the right dorsolateral prefrontal cortex compared to carriers of the S or Lg allele. It could be hypothesized that increased connectivity of the default mode network with brain structures (i. e., dorsolateral and ventromedial prefrontal cortex) involved in cognitive regulation processes may contribute to the regulation of the processes of the default mode network associated with autobiographical memory.</p>","PeriodicalId":44339,"journal":{"name":"Vavilovskii Zhurnal Genetiki i Selektsii","volume":"30 2","pages":"267-273"},"PeriodicalIF":1.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13150738/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147869744","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Molecular genetic variability in coenopopulations of Caragana jubata (Pall.) Poir. (Fabaceae) in the mountains of Central Asia and Southern Siberia revealed using ISSR-markers.","authors":"D A Krivenko, O A Chernysheva, I N Kuban, E V Zhmud, I V Gorbenko, A A Achimova, O Yu Vasilyeva, O V Dorogina","doi":"10.18699/vjgb-26-22","DOIUrl":"https://doi.org/10.18699/vjgb-26-22","url":null,"abstract":"<p><p>The genetic structure was studied using five ISSR markers in 44 individuals of samples obtained from eight coenopopulations (CPs) of Caragana jubata (Pall.) Poir. in the mountainous conditions of Central Asia - in the Western Pamirs and Inner Tien Shan (Kyrgyzstan) and in Southern Siberia - in Altai (Republic of Altai), Western (Republic of Tyva) and Eastern (Republic of Buryatia) Sayan. We studied the species in a range of geographical distances of more than 2,500 km and in the range of absolute altitudes of 1,570-3,680 m. Caragana jubata is listed in the Red Data Books of eight subjects of the Russian Federation. The species population is declining, including due to anthropogenic impact. The aim of the current work is to identify genetic diversity and heterogeneity in C. jubata coenopopulations depending on their geographic and altitudinal confinement in the mountains of Central Asia and Southern Siberia. It was shown that in undisturbed locations, the studied CPs of this species were characterized by a high number of individuals and by the occupied area of more than 100 m2. Almost every sample from the C. jubata CP studied by us (except for representatives from CP7) contained genotypes possessing unique DNA fragments. The highest proportion of such genotypes (75 %) was found in the sample from CP3 (Inner Tien Shan, Teskey-Ala-Too Ridge, absolute altitude 2,550 m). We did not find unique fragments in the genotypes of individuals from the studied sample of CP7 (Western Sayan, Republic of Tuva). Anthropogenic impact on plants at this location is a possible reason for that. The revealed predominance of intrapopulation genetic variability over interpopulation genetic variability in samples from eight C. jubata CPs studied by us may indicate the stability of representatives of this species within the parts of the range studied by us.</p>","PeriodicalId":44339,"journal":{"name":"Vavilovskii Zhurnal Genetiki i Selektsii","volume":"30 2","pages":"194-204"},"PeriodicalIF":1.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13149943/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147869836","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Description of morphological characteristics of wheat spike as a digital certificate in the SpikeDroidDB database.","authors":"E G Komyshev, Yu V Kruchinina, V S Koval, A A Poteshkina, N V Petrash, V V Piskarev, N P Goncharov, D A Afonnikov","doi":"10.18699/vjgb-26-37","DOIUrl":"https://doi.org/10.18699/vjgb-26-37","url":null,"abstract":"<p><p>It has been repeatedly shown that spike productivity is the main component of wheat yield. The main spike parameters related to productivity are size, the number of grains and spikelets per spike, and the presence or absence of awns. In modern genetic research, morphometric analysis of hundreds and thousands of spikes is required to determine the loci that control spike productivity traits. On the other hand, thousands of accessions in modern collections of wheat genetic resources need detailed description. These considerations motivate the development of digital technologies for describing spike traits in wheat, which can be achieved through image analysis methods. These methods allow for automated acquisition of trait values that can serve as the basis for digital plant collections. Here we propose an extended set of spike characteristics obtained both manually and through digital image analysis and present plant characterization. These data form the basis of the updated version of the SpikeDroidDB database (http://spikedroid.biores.cytogen.ru/). The digital description of the spike consists of two blocks. The block of uploaded data includes a description of the plant and contains five tables: collection; variety sample (year of cultivation (vegetation), sowing identifier, taxonomic information, etc.), planting site, and characteristics of the spike determined manually (length, width of frontal and lateral views, type and color of the spike, etc.) The block of extracted features includes spike characteristics obtained by digital phenotyping and contains six tables: characteristics of the spike outline in the image; characteristics of the quadrangle model, values of the color components of the spike, dominant colors of the spike, and texture characteristics of the spike in the image. The most illustrative and significant features of the spike have been identified, allowing for the formation of the spike digital certificate, which includes size, shape, and color features derived from the digital images. The features forming the digital certificate have been compared between two wheat species, T. aethiopicum and T. carthlicum. It is shown that the features of the digital certificate allow for a clear representation of the spike model and the identification of distinct parameters: colors of the spike and awns and roundness of the frontal view of the spike. The database interface has been supplemented with the ability to upload data on plant and spike characteristics, as well as their images, in the batch mode.</p>","PeriodicalId":44339,"journal":{"name":"Vavilovskii Zhurnal Genetiki i Selektsii","volume":"30 2","pages":"330-338"},"PeriodicalIF":1.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13149942/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147869741","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Functional symmetry and reproducibility of the evolutionary process.","authors":"S I Bartsev","doi":"10.18699/vjgb-26-32","DOIUrl":"https://doi.org/10.18699/vjgb-26-32","url":null,"abstract":"<p><p>The question on the reproducibility of evolutionary processes is primarily of fundamental importance; however, with the development of methods for modeling evolutionary processes on computer multilevel models, an answer to this question is necessary to clarify the status of the predictions obtained. Experimental obtaining of ensembles of evolutionary outcomes for subsequent statistical processing on real biological systems seems to be impracticable. At the same time, the results obtained on multilevel computer models are difficult to interpret due to their complexity and the dependence of modeling results on a variety of parameters. This work is aimed at identifying common properties of evolving systems using a simple heuristic model based on transparent general principles and ideas about the key properties of biological systems that are important for the evolutionary process. Agents undergoing evolutionary changes are recurrent neural networks with a well-defined structure, a given function, and a specific rule for modifying the structure in the direction of maximum fitness. A separate instance of a neural network formed during the evolutionary process is called neural network model object (NNMO). Computational experiments have been carried out to generate ensembles of NNMO structures performing a given function, and the patterns of NNMO distribution in the structural space have been analyzed. This analysis confirms the presence of functional symmetry in the structure of NNMOs performing the same function. An assessment of the stability and reproducibility of individual evolutionary trajectories has been carried out. It is shown that under certain constraints leading to a reduction of the complexity of the NNMO structure (analogous to a narrow environmental specialization), the final NNMO structures may be close, but not identical. This suggests an inaccurate reproduction of the evolution of the structure with functional equivalence. Nevertheless, it can be argued that in the general case, the very ability for evolutionary change is possible with the redundancy of the potential complexity of the structure over the functional complexity and automatically entails a multiplicity of evolutionary outcomes based on the fact that the same function can be implemented by different, but functionally invariant structures.</p>","PeriodicalId":44339,"journal":{"name":"Vavilovskii Zhurnal Genetiki i Selektsii","volume":"30 2","pages":"284-292"},"PeriodicalIF":1.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13150736/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147869766","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A histochemical assay for polyphenolic profiling in cereal grains.","authors":"S R Mursalimov, O Yu Shoeva","doi":"10.18699/vjgb-26-05","DOIUrl":"10.18699/vjgb-26-05","url":null,"abstract":"<p><p>In different cell layers, cereal grains may accumulate various economically important polyphenols such as colored anthocyanins and melanins and colorless proanthocyanidins. To effectively create new cultivars with different combinations of these compounds, a simple, fast, and precise screening method is required. Here, a histochemical assay that includes a combination of hot ethanolic, acidic, alkaline, and ammoniacal silver treatments of grain cryosections followed by microscopy was successfully applied to distinguish these substances in cereal grains. Barley lines previously characterized chemically for the presence of anthocyanins, proanthocyanidins, and melanins in grains were used as a model. In black barley grains, this approach allowed to visually distinguish insoluble melanins that do not react to a pH change from anthocyanins, which can be insoluble or soluble but always react to changing pH. For the first time, ammoniacal silver staining commonly used for melanin identification in human and animal tissues was adapted for melanin identification in plant tissues. Along with melanins, this reagent stains other polyphenols thereby helping to detect colorless polyphenols including proanthocyanidins in the testa of barley grains as confirmed by p-dimethylaminocinnamaldehyde (DMACA) staining. The applicability of this assay to polyphenol profiling was demonstrated not only in the barley grain but also in wheat and common vetch grains. The proposed histochemical assay allows rapid polyphenol screening using a single grain, making it a practical and efficient alternative to time-consuming chromatographic methods for preliminary selection from large sample sets prior to detailed quantitative and qualitative chemical analysis.</p>","PeriodicalId":44339,"journal":{"name":"Vavilovskii Zhurnal Genetiki i Selektsii","volume":"30 1","pages":"53-60"},"PeriodicalIF":1.2,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13058835/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147646796","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Single nucleotide polymorphisms are typical for tick-borne encephalitis and West Nile viruses during triple natural mixed infections in Blyth's reed warbler (Acrocephalus dumetorum).","authors":"E P Ponomareva, V A Ternovoi, E V Protopopova, N L Tupota, V B Loktev","doi":"10.18699/vjgb-26-12","DOIUrl":"10.18699/vjgb-26-12","url":null,"abstract":"<p><p>Wild bird species contribute significantly to the rapid geographic dissemination of tick-borne encephalitis viruses (TBEV) and West Nile virus (WNV), facilitating the establishment of new natural foci of these orthoflaviviruses. However, the impact of TBEV and WNV population variability on shaping these foci, as well as the potential emergence of new human-pathogenic viral variants, remain underexplored. This study aimed to assess the genetic heterogeneity of TBEV (Siberian and Far Eastern genotypes) and WNV, isolated simultaneously from the tissues of a single garden reed warbler (Acrocephalus dumetorum) collected in the suburbs of Tomsk. The methods of viral strain isolation on various cell cultures were used in combination with a whole-genome analysis of isolates through traditional and high-throughput sequencing (NGS) methods. Consensus full-genome nucleotide sequences of the viruses were obtained by Sanger sequencing and compared with those obtained by NGS, with single nucleotide substitutions (single nucleotide variants, SNVs) accounting for 2 % or higher within the population under study. Our findings revealed single nucleotide polymorphisms (SNPs) associated with both synonymous and non-synonymous nucleotide substitutions, primarily located within the non-structural protein genes of TBEV and WNV. Notably, recombination events were not detected in the genomes of isolated orthoflaviviruses. The WNV isolate, Tomsk/bird/2006/A4, and the TBEV isolates, PT12 and PT122, obtained from A. dumetorum, exhibited heterogeneous viral populations, with SNVs ranging in frequency from 1.75 to 19.88 % for WNV and from 2.08 to 23.73 % for TBEV. Most identified SNPs shared similar nucleotide substitutions in the genomes of already known strains of TBEV and WNV, suggesting that these SNVs could play a crucial role in viral adaptation and underscore the genetic and phenotypic diversity of these viruses in nature.</p>","PeriodicalId":44339,"journal":{"name":"Vavilovskii Zhurnal Genetiki i Selektsii","volume":"30 1","pages":"117-125"},"PeriodicalIF":1.2,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13058840/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147646924","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The computational analysis of tumor cell sensitivity to supertarget deletion.","authors":"D A Chetverina, N Y Kozelchuk, D V Lomaev, A A Shtil, М M Erokhin","doi":"10.18699/vjgb-26-02","DOIUrl":"10.18699/vjgb-26-02","url":null,"abstract":"<p><p>Gene mutations and altered epigenetic regulation of gene expression are characteristic features of malignant neoplasms. Combinations of these abnormalities form molecular features of individual tumors. In the large-scale Dependency Map (DepMap) project, the broad panels of human tumor cell lines are being tested for sensitivity to single gene inactivation. Using DepMap data, we have previously identified a set of genes termed supertargets, the deletion of which significantly reduced the survival of cells of a particular tissue origin while minimally impairing the unrelated cell lines. In the present study, we determined the factors of viability (inhibition of proliferation or death) of cell lines in which the supertarget genes have been deleted. We found that, in 79 % of cases, the reduced survival may be caused by epigenetic changes of gene expression. In the remaining 21 % of cases, it is associated with altered gene structure. Three groups containing different types of gene expression alterations can be distinguished. In the first group, the reduced cell survival correlated with a higher expression of the supertarget gene (e. g., SOX10 and HNF1B). In the second group, a gene different from the deleted supertarget was overexpressed (gene pairs: FOXA1 and SPDEF, TP63 and SERPINB13, etc.). The third group was characterized by correlations between low expression of a certain gene and tumor cell sensitivity (e. g., FAM126A and FAM126B, SMARCA2 and SMARCA4). The genetic changes included GOF mutations (KRAS, BRAF genes, etc.), LOF mutations (STAG1, SMARCA2 genes, etc.), gene fusions (BCR-ABL1, PAX3-FOXO1, etc.), and amplification (CPM, BEST3, etc.). Therefore, many different molecular mechanisms act as predictors of tumor cell response to inhibition of supertarget genes.</p>","PeriodicalId":44339,"journal":{"name":"Vavilovskii Zhurnal Genetiki i Selektsii","volume":"30 1","pages":"85-93"},"PeriodicalIF":1.2,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13066654/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147677521","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The specific features of the thyroid hormone receptor gene <i>THRB</i> polymorphism in indigenous populations of Siberia.","authors":"B A Malyarchuk, N V Pokhilyuk, G A Denisova, A N Litvinov","doi":"10.18699/vjgb-26-07","DOIUrl":"10.18699/vjgb-26-07","url":null,"abstract":"<p><p>In the process of adaptation to cold in humans, genes belonging to the thyroid system signaling pathways that regulate thermogenesis, energy expenditure, and metabolic rearrangements are implicated. One such gene is the THRB gene, which encodes the nuclear receptor TRβ, with which the thyroid hormone triiodothyronine (T3) interacts. The activity of thermogenin UCP1 is influenced by the concentration of TRβ-T3 complexes, which serve to uncouple oxidative phosphorylation in mitochondria, thereby enhancing heat production. Consequently, thyroid hormone receptors have been demonstrated to play a significant role in adaptive thermogenesis. In the present study, we conducted a comprehensive analysis of published data on the THRB gene polymorphism in Siberian indigenous populations, with the objective of identifying potential associations between polymorphism variants and adaptation to cold. The analysis of exon and adjacent noncoding regions of the THRB gene revealed a single nucleotide substitution in the protein-coding region (synonymous substitution in the locus rs3752874). All other nucleotide substitutions were detected primarily in 3'-untranslated regions and introns. Analysis of the THRB haplotype distribution revealed two Koryak-specific haplotypes characterized by the rs762175401-A substitution. The results of population screening demonstrated that this substitution is prevalent among the Koryak population, with a frequency of 13.8 %, and is also present in the Siberian Eskimo population. However, in other global populations, the frequency of the rs762175401-A substitution does not exceed 0.05 % (in the Japanese and Koreans) or has even lower values (less than 0.02 %). The analysis of the nucleotide sequence of the THRB gene indicates that the rs762175401 locus is situated in the 3'-untranslated region at position +2 from the terminating codon. It is plausible that this substitution may have led to alterations in translation termination efficiency. In the case of enhanced termination efficiency, it is conceivable that it contributed to an elevated rate of protein synthesis, thereby resulting in an increase in the concentration of TRβ-T3 complexes. The higher frequency of the rs762175401-A variant in the Koryak and Eskimo populations, representing the oldest populations of Northeastern Siberia, is assumed to be due to long-term adaptation of these populations to cold.</p>","PeriodicalId":44339,"journal":{"name":"Vavilovskii Zhurnal Genetiki i Selektsii","volume":"30 1","pages":"94-100"},"PeriodicalIF":1.2,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13061753/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147677480","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}