Aleksandra S. Karunas

Intensive selection and inbreeding in farm bird populations (Gallus gallus domesticus) lead to reduced genetic diversity, a decrease in effective population size, and the loss of rare alleles. Biobanks of genetic resources serve as repositories for gene pool conservation, ensuring the recording of allele frequencies, haplotype profiles, and population structure. This review presents a comprehensive analysis of the status and prospects for biobanking of farm bird genetic resources as a strategic tool for preserving biodiversity and accelerating breeding progress. The review discusses the types of biobanks and the biological material they preserve, describes the features of cryopreservation in birds, examines key international and domestic centers and global initiatives for the conservation of animal genetic material, and provides an interdisciplinary analysis of biobanking of avian genetic resources in the context of epidemiological safety, regulatory frameworks, and technological development prospects. Particular attention is paid to Russian collections of chicken biological material with verified phenotypes as well as integration with international FAO/ERFP/EUGENA standards within the framework of the “One Health/One Biodiversity” concept.

Background: Thiopurines, including azathioprine and 6-mercaptopurine, are widely used in the treatment of inflammatory and autoimmune diseases, as well as hematological malignancies; however, their use is limited by the risk of severe myelosuppression. Pharmacogenetic variants in the TPMT and NUDT15 genes significantly affect drug tolerability, and their frequencies vary markedly across ethnic groups, making population-based studies of these markers in different regions of Russia particularly important. Aim: To assess interethnic variability in the frequencies of clinically relevant TPMT rs1142345 and NUDT15 rs116855232 polymorphisms in populations of the Volga-Ural region, North Caucasus, and the Lower Volga region. Methods: Data from 1687 healthy males from 27 populations and 15 ethnogeographic groups (Bashkirs, Tatars, Mordvins, Chuvash, Mari, Udmurts, Komi, Besermyans, Kalmyks, Balkars, Karachays, Circassians, Ingush, Chechens, and Moldovans), collected during field expeditions in 2000–2025, were retrospectively analyzed. Information on date and place of birth, family history of disease, ethnicity of parents and grandparents (maternal and paternal lines), and causes of death of closed relatives was collected by questionnaire. Individuals with mixed ancestry were excluded. Genomic DNA was extracted from venous blood; genotyping of TPMT rs1142345 and NUDT15 rs116855232 was performed by real-time polymerase chain reaction with TaqMan probes. Results: The minor allele rs1142345*C of TPMT (TPMT*3C) was rare or absent in most of the studied groups, with the highest frequencies observed in Chuvash (3.65%), Circassians (3.23%), and Mordvins (3.16%). The minor allele rs116855232*T of NUDT15 (NUDT15*3) was more frequent in Kalmyks (15.6%), Bashkirs from Perm Krai (14.77%), and Bashkirs of the Samara and Saratov Regions (14.63%), whereas it was absent in Moldovans and occurred at minimal frequencies in Mordvins (0.52%), Chechens (1.03%) and Ingush (1.61%). The most significant differences in NUDT15*3 allele frequency were observed between Kalmyks and Mordvins (15.60% vs 0.52%; p = 2.7 × 10-9, p_FDR = 9.3 × 10-7), Kalmyks and Chechens (15.60% vs 1.03%; p = 2.4 × 10-8, p_FDR = 3.8 × 10-6), and Kalmyks and Moldovans (15.60% vs 0.0%; p = 3.2 × 10-8, p_FDR = 3.8 × 10-6). Among the Bashkir subgroups, the greatest differences were found between Bashkirs from Perm Krai and Mordvins (14.77% vs 0.52%; p = 1.4 × 10-6, p_FDR = 1.3 × 10-4), between Bashkirs from Samara and Saratov Regions and Mordvins (14.63% vs 0.52%; p = 2.5 × 10-6, p_FDR = 1.8 × 10-4), and between Bashkirs from Perm Krai and Moldovans (14.77% vs 0.0%; p = 3.4 × 10-6, p_FDR = 2.0 × 10-4) and Chechens (14.77% vs 1.03%; p = 8.0 × 10-6, p_FDR = 3.5 × 10-4). Conclusion: The results confirm substantial ethnic heterogeneity in the distribution of pharmacogenetic markers of thiopurine toxicity. The minor allele rs116855232*T of NUDT15 was significantly more prevalent in the studied populations than the minor allele rs1142345*C of TPMT, and its frequencies in several groups were comparable to those in East Asian populations. This supports the utility of genotyping for personalizing azathioprine therapy in Russian regions.

In this study, we describe a 12-year-old girl suffering from ulcerative colitis with total intestinal mucosal involvement. The aim of our study is to clarify the etiology of the disease using molecular genetics testing. Methods. Whole-genome sequencing was performed using the DNBSEQ-T7RS platform. We used the CADD, PROVEAN and other predictive programs to determine potential clinical significance of the identified variants. Results. The pathogenic missense variant c.583C>T, p.Arg195Cys in the HMBS gene, associated with acute intermittent porphyria, and a rare variant of unknown significance.c.437G>A, p.Arg146Gln in the TTC7A gene, which is associated with intestinal and immune disorders of varying severity were detected. Conclusions. An unexpected combination of ulcerative colitis with a mutation in the HMBS gene associated with an autosomal dominant acute porphyria which in rare cases is combined with inflammatory bowel diseases, has been identified.

Egg production in Gallus gallus domesticus represents a complex, economically critical trait shaped by multiple interrelated phenotypes, including age at first egg, total egg number, egg weight, and clutch characteristics. These traits are governed by polygenic inheritance and modulated by environmental factors, making the dissection of their genetic architecture essential for improving breeding efficiency, particularly under the emerging “long-life layers” production model. This systematic review aimed to integrate current knowledge on the genetic and molecular basis of egg production traits through analysis of genome-wide association studies and related genomic approaches. A structured literature search identified 27 eligible studies, which were evaluated following PRISMA guidelines. Data extraction and meta-analysis were conducted using standardized genome annotations and computational pipelines. The synthesis of available evidence demonstrates moderate to high heritability for key reproductive traits and highlights consistent genomic signals across multiple chromosomes. Importantly, the findings reveal a shift toward a systems-level understanding of egg production, involving conserved biological pathways related to neuroendocrine regulation, folliculogenesis, and energy metabolism. The integration of diverse genomic approaches enables the development of more precise, breed-specific selection strategies. Overall, these advances support a transition from traditional selection toward molecularly informed breeding frameworks, with significant implications for productivity, sustainability, and global food security.

The decline in biodiversity and, as a consequence, in genetic resources of farm animals worldwide as a result of the growing anthropogenic impact is recognized as a global problem that requires an immediate solution. Therefore, the conservation of national gene pools of farm animals is of crucial importance. One of the most effective forms of conservation of genetic resources is the long-term deposit of animal biomaterials in specialized collections-biobanks. Global experience shows that the creation of such biobanks with materials accessible to scientists, breeders, and agricultural professionals, is of great scientific and applied importance. The article analyzes domestic and foreign sources over the last 10 years. The purpose of the review is to summarize current data on the development of biobanking of farm animals worldwide and in the Russian Federation. The current state of the problem of conservation of genetic resources of farm animals and approaches for its solution are considered, the main emphasis is on the conservation of materials in vitro. The paper describes the current state of collections of genetic resources of farm animals in the Russian Federation and the largest national gene banks in several countries. The need to expand work in the field of biobanking of farm animals is shown. In the future, biobank samples can be used both to preserve populations of small, rare animal breeds and to restore the genetic variability of commercial, actively bred breeds. With the development of omix technologies, biobanks of farm animals are becoming particularly important as sources of genetically diverse and specialized DNA that can be used to study gene functions and analyze genomic associations.

Background/Objectives: Assessing trace-element status is fundamental for maintaining health across species. However, serum primarily reflects acute physiological variability rather than chronic exposure. Thus, we investigate the cornea as a possible stable, practical alternative for assessing chronic copper and iron accumulation in rabbit’s cornea. Methods: A group of laboratory rabbits was housed under standardized husbandry conditions with comparable environmental and dietary backgrounds for trace-element intake. After completion of the experimental phase, corneal tissues were collected and subjected to quantitative elemental analysis using validated spectrometric procedures. In parallel, the structural integrity of the cornea was evaluated with standard histological techniques to determine whether elevated trace-element levels were associated with detectable morphological alterations. Results: Copper and iron concentrations showed approximately normal distributions, with mean values of 0.93 ± 0.46 μg/g and 0.78 ± 0.32 μg/g. All elemental concentrations were calculated relative to the original (native) wet tissue weight. Several samples exhibited elevated levels of both elements. Importantly, even in the samples with the highest copper and iron concentrations, no histological abnormalities were observed. Epithelial layers were intact, stromal collagen was well organized, and no inflammation or edema was observed. Conclusions: Overall, the cornea contained measurable copper and iron levels, and higher concentrations were not associated with morphological disruption under the trace-element conditions studied. Because ocular tissues are not used in food processing and can be collected in a standardized way during slaughter, the cornea offers a practical matrix for post-mortem monitoring of trace-element load in commercial animal production.

Abdominal fat deposition in chickens significantly impacts production efficiency and is influenced by complex genetic and molecular mechanisms. This review summarizes current genomic and transcriptomic research on the regulation of adipogenesis and fat accumulation in chickens, highlighting key genes and loci identified through genome-wide association studies as well as other candidates involved in lipogenesis, lipolysis, and transcriptional regulation. Major metabolic pathways, including MAPK, AMPK, PI3K/AKT/mTOR, TGFβ1/Smad3, FoxO, JAK–STAT, Wnt/β-catenin, and Sonic Hedgehog signaling, are examined for their roles in fat deposition. The regulatory functions of non-coding RNAs, including microRNAs, long non-coding RNAs, and circular RNAs, are discussed, focusing on their interactions with target mRNAs and signaling networks that control lipid metabolism, adipocyte differentiation, and energy balance. Integrating insights from both avian and human studies, this review emphasizes the molecular mechanisms underlying adipogenesis and highlights potential strategies for genetic selection aimed at reducing excessive abdominal fat and improving poultry productivity.

Background . Neurofibromatosis type 1 (NF1) is a genetic disorder that is characterized by multiple light brown patches of skin (café-au-lait spots) and neurofibromas. It can lead to an increased risk of malignant tumors, cognitive impairment, and skeletal abnormalities. NF1 is caused by heterozygous mutations in the NF1 gene, and identifying the specific mutation can form the basis for pathogenetic treatment of tumor syndrome. Several studies indicate that patients with the NF1 in-frame deletions tend to have a milder form of the disease that is characterized by the absence of neurofibromas. the purpose of the study was to identify in-frame deletions in the NF1 gene in patients from the Republic of Bashkortostan as well as to characterize the clinical symptoms of NF1 in this group of patients. Material and Methods . An analysis of outpatient records of NF1 patients from the Republic of Bashkortostan was conducted, along with an objective clinical examination of the patients and DNA sequencing to identify in-frame deletions in the NF1 gene. Twenty-six patients (12 females and 14 males) aged 3 to 69 years were studied. Results . The retrospective analysis of outpatient records and examination of NF1 patients showed the NF1 incidence of 1:7403.6 people. Two in-frame deletions in the NF1 gene were identified in 6 patients with NF1 from 3 unrelated families: NF1:NM_000267.3:exon21:c.2674_2679del:p. S892_K893del; NF1:NM_000267.3:exon27:c.3526_3528delAGA:p.Arg1176del. The clinical manifestations of NF1 in patients with identified mutations and their comparative characteristics with all NF1 patients in the Republic were described. In the general group of NF1 patients from the Republic, a rarer detection of neurofibromas and malignant tumors, optic nerve gliomas, and cognitive impairment was revealed. Conclusion . In patients with NF1 from the Republic of Bashkortostan with in-frame deletions in the NF1 gene, no brain cysts or tumors, plexiform neurofibromas, and optic nerve gliomas were detected. Although the mutations we identified have not previously been described in the scientific literature, our analysis of clinical features is consistent with the findings of other authors regarding the presence of phenotypic correlations with in-frame deletions.

The poultry industry, a globally fast growing agricultural sector, provides affordable animal protein due to high efficiency. Gallus gallus domesticus are the most common domestic birds. Hybrid chicken breeds (crosses) are widely used to achieve high productivity. Maintaining industry competitiveness requires constant genetic selection of parent stock to improve performance traits. Genetic studies, which are essential in modern breeding programs, help identify genome variants linked to economically important traits and preserve population health. Next-generation sequencing (NGS) has identified millions of single nucleotide polymorphisms (SNPs) and insertions/deletions (INDELs), enabling detection of genome-wide regions associated with selection traits. Recent studies have pinpointed such regions using broiler lines, laying hen lines, or pooled genomic data. This review discusses advances in chicken genomic and transcriptomic research focused on traits enhancing meat breed performance and reproductive abilities. Special attention is given to transcriptome studies revealing regulatory mechanisms and key signaling pathways involved in artificial molting, as well as metagenome studies investigating resistance to infectious diseases and climate adaptation. Finally, a dedicated section highlights CRISPR/Cas genomic editing techniques for targeted genome modification in chicken genomics.

Asthma is a common complex disease with susceptibility defined through an interplay of genetic and environmental factors. Responsiveness to asthma treatment varies between individuals and is largely determined by genetic variability. The polygenic score (PGS) approach enables an individual risk of asthma and respective response to drug therapy. PGS models could help to predict the individual risk of asthma using 26 SNPs of drug pathway genes involved in the metabolism of glucocorticosteroids (GCS), and beta-2-agonists, antihistamines, and antileukotriene drugs associated with the response to asthma treatment within GWAS were built. For PGS, summary statistics from the Trans-National Asthma Genetic Consortium GWAS meta-analysis, and genotype data for 882 individuals with asthma/controls from the Volga-Ural region, were used. The study group was comprised of Russian, Tatar, Bashkir, and mixed ethnicity individuals with asthma (N = 378) aged 2–18 years. and individuals without features of atopic disease (N = 504) aged 4–67 years from the Volga-Ural region. The DNA samples for the study were collected from 2000 to 2021. The drug pathway genes’ PGS revealed a higher odds for childhood asthma risk (p = 2.41 × 10⁻¹²). The receiver operating characteristic (ROC) analysis showed an Area Under the Curve, AUC = 0.63. The AUC of average significance for moderate-to-severe and severe asthma was observed (p = 5.7 × 10⁻⁹, AUC = 0.64). Asthma drug response pathway gene variant PGS models may contribute to the development of modern approaches to optimise asthma diagnostics and treatment.