Genetic Techniques Research Articles

Microstructural material design of pearlitic steel lamella for desired mechanical properties

Designing materials for a targeted mechanical property is a complex problem due to its structure and property relationship nature, traditionally relying on experimental methods. Computational approaches offer a promising alternative, but they are often computationally intensive. This limits their applicability for solving the goal-based structure design problem. This study focuses on the design of microstructure to achieve specific mechanical properties by combining generative adversarial networks, deep neural networks, and genetic algorithm optimization techniques. In this work to demonstrate the effectiveness of the proposed approach we select a widely used pearlitic steel lamella microstructure where the phase fraction of ferrite and cementite and the lamella distribution significantly influence the strength and ductility. A method for designing the pearlite microstructure features for the targeted mechanical properties, such as yield strength (σy), ultimate strength (σut), and fracture strain (εf) is developed by applying inverse microstructure design techniques to achieve the targeted mechanical properties, specifically in fully pearlitic steel materials. The findings hold great promise, particularly when coupled with additive manufacturing, in offering an efficient and versatile framework for structural materials design for targeted material applications.

Biofeed through bioconversion process with the engineered methyl-microbium buryatense strain 5GBC1-RO1

This study presents a novel approach to mitigate methane emissions while simultaneously addressing the growing demand for sustainable animal feed through the development of an engineered methanotrophic strain, Methylomicrobium buryatense 5GB1C-RO1. Utilizing advanced genetic engineering techniques, including CRISPR/Cas9 and horizontal gene transfer, we have optimized the ribulose monophosphate (RuMP) cycle and enhanced oxidase activity in this strain. The bioconversion process is facilitated by innovative bioreactor designs, including Two-Phase Partitioning Bioreactors (TPPBs) and Inverse Membrane Bioreactors (IMBRs), which significantly improve methane solubility and mass transfer. Through metabolic flux analysis and computational modeling, we have achieved high biomass yields and efficient methane utilization. The resulting biofeed demonstrates a superior nutritional profile, with optimized macronutrient content and essential components. This integrated approach not only contributes to greenhouse gas mitigation but also offers a promising solution for sustainable animal nutrition. Our findings suggest that the 5GB1C-RO1 strain and associated bioprocesses have the potential to revolutionize both environmental protection and agricultural sustainability.

Condition Monitoring in Marine Oil Separation Systems Using Wavelet Packet Transform and Genetic Technique

Condition Monitoring is key to predictive maintenance and especially in the operational efficiency of the Marine Oil Separation System. These systems are crucial for environmental protection and compliance with international maritime regulations. Therefore, it is necessary to design a technique capable of analyzing the signals from sensors and estimating the remaining useful life in order to avoid breakage or unnecessary replacement. This work presents an intelligent method with signal processing based on Wavelet Packets Transform that provides energy data from vibration measurements as characteristic parameters. These values can be related to its RUL, and they are used as inputs for the training process. In particular, a Genetic Neuro-Fuzzy system is proposed as an intelligent classification technique. Once the training process is completed, it can be concluded that a good classifier has been built, since it relates the energy state of the oil separation system with its remaining useful life, and therefore, the necessary information for efficient predictive maintenance is achieved. Furthermore, a mechanism to obtain the final set of fuzzy rules has been developed, showing the correspondence between these fuzzy rules and the neural network structure.

The Impact of Biotechnology in Shaping the Modern Agriculture

Advances in biotechnology have created new opportunities for food diversity in terms of both quantity and quality, as well as for collecting food in proportion to the world's expanding population and ensuring food security. With the advancement of molecular biology, DNA sequencing, and recombinant DNA in the middle of the 20th century, modern-day advancement of molecular breeding gave rise to genetic engineering and recombinent DNA techniques that are today frequently connected to biotechnology. This expansion has been facilitated by a variety of fields, including genetics, molecular biology, and biotechnology. The use of genetic engineering in agriculture has grown due to its ability to precisely create and insert a gene from any living organism. Molecular markers are also utilized to identify disease and pest resistance in order to increase agricultural output using traditional techniques. Genetic engineering plays a crucial role in agriculture, representing the scientific and technical advancement of traditional methods for crop enhancement. Recombinant DNA technology, RNA interference, and CRISPR genomic editing are some of the instruments and methods used in genetic engineering. The emergence of biotechnological innovations aimed at improving the nutritional composition of individual foods has led to the growing problem of a malnourished world population, where a growing number of people rely on large regions of the world for food used as the only source of protein, carbohydrates, fats and several essential minerals and vitamins, in addition to being a source of energy.

Revolutionizing dairy waste: emerging solutions in conjunction with microbial engineering.

The dairy industry is grappling with significant challenges in managing effluent due to environmental concerns and stringent regulatory demands, necessitating innovative solutions. The paper investigates how microbial engineering is transforming the treatment of dairy wastewater, offering advanced methods to minimize environmental impact and enhance sustainability. It delves into the current challenges faced by the dairy industry, such as regulatory compliance and the limitations of traditional treatment technologies, and introduces microbial engineering as a promising solution for effluent management. Microbial engineering leverages genetic engineering techniques and microorganisms to enhance the efficiency of treatment processes like bioaugmentation and bioremediation. The environmental and economic benefits of microbial engineering, highlighting its potential to reduce pollution and lower operational costs for the dairy industry. The specific figures can vary based on factors like farm size and location, studies suggest that microbial engineering can reduce wastewater pollution by up to 50% and nutrient runoff by 30%. It also identifies key challenges and there are still areas including strains for specific pollutants (drugs, hormones), enhance degradation pathways, and increase microbes' stability (stress tolerance, long-term viability) that require further innovation to maximize its benefits. Through case studies and success stories, the paper demonstrates practical applications of microbial engineering in managing dairy effluent, illustrating how it can revolutionize industrial practices for a more sustainable future.

Genetic Engineering in Bacteria, Fungi, and Oomycetes, Taking Advantage of CRISPR

Genetic engineering has revolutionized our ability to modify microorganisms for various applications in agriculture, medicine, and industry. This review examines recent advances in genetic engineering techniques for bacteria, fungi, and oomycetes, with a focus on CRISPR-Cas systems. In bacteria, CRISPR-Cas9 has enabled precise genome editing, enhancing applications in antibiotic production and metabolic engineering. For fungi, despite challenges associated with their complex cell structures, CRISPR/Cas9 has advanced the production of enzymes and secondary metabolites. In oomycetes, significant plant pathogens, modified Agrobacterium-mediated transformation, and CRISPR/Cas12a have contributed to developing disease-resistant crops. This review provides a comparative analysis of genetic engineering efficiencies across these microorganisms and addresses ethical and regulatory considerations. Future research directions include refining genetic tools to improve efficiency and expand applicability in non-model organisms. This comprehensive overview highlights the transformative potential of genetic engineering in microbiology and its implications for addressing global challenges in agriculture, medicine, and biotechnology.

Multianalytical investigation reveals psychotropic substances in a ptolemaic Egyptian vase.

This study presents a comprehensive multimodal analytical study of an Egyptian ritual Bes-vase, of the 2nd century BCE employing cutting-edge proteomics, metabolomics, genetics techniques, and synchrotron radiation-based Fourier Transformed Infrared microSpectroscopy (SR µ-FTIR) to characterize organic residues of its content. We successfully identified the presence of various functional, bioactive, psychotropic, and medicinal substances, shedding light on the diverse components of a liquid concoction used for ritual practices in Ptolemaic Egypt. Using LC-MS/MS with a new methodological approach, we identified key proteins and metabolites, enabling the identification of botanical sources, confirmed by genetic sequences. Our analyses revealed traces of Peganum harmala, Nimphaea nouchali var. caerulea, and a plant of the Cleome genus, all of which are traditionally proven to have psychotropic and medicinal properties. Additionally, the identification of human fluids suggests their direct involvement in these rituals. Furthermore, metabolomics and SR µ-FTIR analyses also revealed the presence of fermented fruit-based liquid and other ingredients such as honey or royal jelly. The identification of specific chemical compounds, such as alkaloids and flavonoids, provides insight into the psychoactive and therapeutic uses of these in ancient ritual practices. This multidisciplinary study highlights the complexity of ancient cultures and their interactions with psychoactive, medicinal, and bioactive substances. These findings contribute to our understanding of ancient belief systems, cultural practices, and the utilization of natural resources, ultimately enhancing our knowledge of past societies and their connection to the natural world.

Precision Agriculture and Water Conservation Strategies for Sustainable Crop Production in Arid Regions

The intensifying challenges posed by global climate change and water scarcity necessitate enhancements in agricultural productivity and sustainability within arid regions. This review synthesizes recent advancements in genetic engineering, molecular breeding, precision agriculture, and innovative water management techniques aimed at improving crop drought resistance, soil health, and overall agricultural efficiency. By examining cutting-edge methodologies, such as CRISPR/Cas9 gene editing, marker-assisted selection (MAS), and omics technologies, we highlight efforts to manipulate drought-responsive genes and consolidate favorable agronomic traits through interdisciplinary innovations. Furthermore, we explore the potential of precision farming technologies, including the Internet of Things (IoT), remote sensing, and smart irrigation systems, to optimize water utilization and facilitate real-time environmental monitoring. The integration of genetic, biotechnological, and agronomic approaches demonstrates a significant potential to enhance crop resilience against abiotic and biotic stressors while improving resource efficiency. Additionally, advanced irrigation systems, along with soil conservation techniques, show promise for maximizing water efficiency and sustaining soil fertility under saline–alkali conditions. This review concludes with recommendations for a further multidisciplinary exploration of genomics, sustainable water management practices, and precision agriculture to ensure long-term food security and sustainable agricultural development in water-limited environments. By providing a comprehensive framework for addressing agricultural challenges in arid regions, we emphasize the urgent need for continued innovation in response to escalating global environmental pressures.

Advances in CAR NK Cell Therapy for Targeting and Eradicating Circulating Tumor Cells: Challenges and Solutions for Aging Patients Mini Review

Chimeric Antigen Receptor (CAR) Natural Killer (NK) cells represent a promising advancement in cancer immunotherapy, particularly for targeting circulating tumor cells (CTCs) and preventing metastasis. This review examines the latest developments in CAR NK cell therapy, including diverse NK cell sources, genetic engineering techniques, and dual mechanisms of action. Targeting CTCs with CAR NK cells shows significant potential in aggressive cancers like triple-negative breast cancer (TNBC) and pancreatic cancer. The impact of aging on NK cell function, especially regarding cytotoxicity, cytokine secretion, and persistence, poses challenges for elderly patients, but strategies such as interleukin-15 and metabolic interventions offer potential solutions. The review also addresses current limitations, such as poor persistence in immunosuppressive microenvironments and low solid tumor infiltration, while proposing combination therapies to enhance effectiveness. Although still in earlier clinical stages compared to CAR T cells, CAR NK cells’ safety profile and MHC-independent recognition mechanisms make them a versatile therapeutic option. Future directions include optimizing NK cell persistence, improving infiltration, and developing age-adapted therapies for elderly patients. _________________________________________________________________________________________ Keywords: CAR NK cells, CAR T cells, Circulating tumor cells (CTCs), Cell Therapy, Aging

Prenatal diagnosis analysis of three cases of Turner syndrome fetuses with complex mosaic small supernumerary marker chromosomes

To explore the value of applying multiple genetic testing techniques for the prenatal diagnosis of Turner syndrome fetuses with complex mosaic small supernumerary marker chromosomes (sSMC). Chromosomal karyotypes of amniotic fluid samples from 5 030 pregnant women who had undergone amniocentesis at the Prenatal Diagnosis Center of the Third Affiliated Hospital of Zhengzhou University from January to December 2022 were retrospectively reviewed. Three fetuses with complex mosaicism fetuses (carrying 2 types of sSMC) were selected as the study subjects. Genetic tests including G-banded chromosomal karyotyping analysis, fluorescence in situ hybridization (FISH), chromosomal microarray analysis (CMA), and copy number variation sequencing (CNV-seq) were used to clarify the origin and mosaic status of the sSMC. This study has been approved by the Medical Ethics Committee of the Third Affiliated Hospital of Zhengzhou University (No. 2023-159-01). G-banded chromosomal analysis of fetus 1 showed a karyotype of 45,X[64]/46,X,+mar1[13]/46,X,+mar2[3]. FISH results showed that 52% of of its cells had contained one X chromosome signal, whilst 48% contained two X chromosome signals. CMA results revealed the fetus had harbored a 32.32 Mb and a 50.93 Mb deletion in Xp22.33p21.1 and Xq22.2q28 regions, respectively, in addition with mosaic deletions of approximately 1.43 copies, 1.78 copies and 1.43 copies in the Xp21.1p11.1, Xq11.1q21.1 and Xq21.2q22.2 regions, respectively. The fetus 2 had a karyotype of 45,X[27]/46,X,+mar1[14]/46,X,+mar2[12]. FISH results indicated that 88% of its cells contained one X chromosomes signal and two Y chromosome signals, and 12% contained signals for one X chromosomes signal and one Y chromosome signal. CNV-seq results revealed a deletion of 7.74 Mb in the Yq11.222q11.23 region and a mosaic duplication of approximately 1.738 copies in the Yp11.31q11.221 region. The fetus 3 had a karyotype of 45,X[60]/46,X,+mar1[11]/46,X,+mar2[6]. FISH results showed that 28% of its cells contained one X chromosome signal, and 72% contained tow X chromosome signals. CNV-seq results revealed deletions of 55.60 Mb and 53.50 Mb in the Xp22.33p11.1 and Xq22.1q28 regions, respectively, along with a mosaic deletion of approximately 1.85 copies in the Xp11.1q13.2 region and a mosaic repeats of approximately 2.66 copies in the Xq13.2q22.1 region. The sSMCs in the 3 fetuses had all originated from sex chromosomes and were of complex mosaic type. After genetic counseling, the three couples had all opted to terminate the pregnancy. The combined use of multiple genetic testing techniques has determined the origin and structure of complex mosaic sSMCs and provided a basis for prenantal diagnosis and genetic counseling.

Genetic barcodes for species identification and phylogenetic estimation in ghost spiders (Araneae: Anyphaenidae: Amaurobioidinae).

The identification of spider species presents many challenges, since in most cases the characters used are from genital structures that are only fully developed in the adult stage, hence the identification of immatures is most often not possible. Additionally, these structures usually also present some intra-specific variability, which in some cases makes the identification of closely related species difficult. The genetic barcode technique (DNA barcodes), based on sequencing of the mitochondrial marker cytochrome c oxidase subunit I (COI ), has proven a useful, complementary tool to overcome these limitations. In this work, the contribution of DNA barcoding to the taxonomy of the subfamily Amaurobioidinae is explored using the refined single linkage analysis (RESL) algorithm for the delimitation of operational taxonomic units (OTUs), in comparison with the assemble species by automatic partitioning (ASAP) algorithm, and presented in conjunction with an updated molecular phylogenetic analysis of three other markers (28S rRNA, 16S rRNA, Histone H3 ), in addition to COI . Of a total of 97 included species identified by morphology, 82 species were concordant with the operational taxonomic units obtained from RESL, representing an 85% correspondence between the two methods. Similar results were obtained using the ASAP algorithm. Previous observations of morphological variation within the same species are supported, and this technique provides new information on genetic structure and potentially cryptic species. Most of the discrepancies between DNA barcoding and morphological identification are explained by low geographic sampling or by divergent or geographically structured lineages. After the addition of many specimens with only COI data, the multi-marker phylogenetic analysis is consistent with previous results and the support is improved. The markers COI , closely followed by 28S , are the most phylogenetically informative. We conclude that the barcode DNA technique is a valuable source of data for the delimitation of species of Amaurobioidinae, in conjunction with morphological and geographic data, and it is also useful for the detection of cases that require a more detailed and meticulous study.

The Mechanism of the Nucleus Accumbens-Ventral Pallidum Pathway Mediated by Drug Withdrawal-Induced High-Seeking Motivation in Cocaine Addiction.

The reinforcement of drug-seeking motivation following drug withdrawal is recognized as a significant factor contributing to relapse. The ventral pallidum (VP) plays a crucial role in encoding and translating motivational aspects of reward. However, current research lacks a clear understanding of how the VP mediates drug-seeking motivation and the feedback modulation between the VP and the nucleus accumbens (NAc) following drug withdrawal. Therefore, utilizing a rat model of cocaine self-administration, we investigated the circuitry mechanisms underlying drug-seeking behavior post-drug withdrawal involving the NAc-VP pathway. Initially, we observed a significant enhancement in drug-seeking behavior 14 days after cocaine withdrawal. Subsequently, we identified the feedback mechanism through which the NAc-VP regulates this behavior. Immunofluorescence results indicated an increase in c-Fos expression levels in the ventral pallidum ventromedial (VPvm) and ventrolateral ventral pallidum (VPvl) following drug withdrawal. Calcium fiber photometry further elucidated that during the expression of high motivational drug-seeking behavior, there was a specific enhancement in VPvm neuronal activity, and retrograde tracing techniques suggested a weakened transmission function in the NAc-VPm pathway. Additionally, chemical genetic techniques demonstrated that inhibiting the activity of the NAc-VP pathway could increase the motivational level of drug-seeking behavior. These findings indicate that the reduced inhibitory function of the NAc-VP pathway following prolonged cocaine withdrawal forms the basis for heightened reactivity in VPvm neurons, thus regulating the expression of high motivational behavior triggered by drug-related cues. Our study results suggest that maintaining normal NAc-VP pathway functionality may decrease drug-seeking motivation post long-term drug withdrawal, offering new insights for interventions targeting relapse.

Co-culture systems of microalgae and heterotrophic microorganisms: applications in bioproduction and wastewater treatment and elucidation of mutualistic interactions.

In recent years, reducing the concentration of carbon dioxide in the atmosphere has become an important issue. Microalgae have a higher photosynthetic efficiency and growth rate than higher plants; thus, biological carbon dioxide fixation using microalgae is attracting particular attention as an efficient carbon dioxide fixation method. However, under dilute atmospheric conditions, microalgae exhibit lower growth rates and reduced carbon dioxide fixation efficiency. In recent years, technology that can efficiently fix carbon dioxide, even in the atmosphere, using a microalgae co-culture system that co-cultivates microalgae and heterotrophic microorganisms has attracted attention. In such a co-culture system, it is believed that a mutualistic relationship is established between microorganisms through the exchange of various compounds. This review focuses on the application of a co-culture system of microalgae and heterotrophic microorganisms for bioproduction and wastewater treatment. In addition, research to elucidate the mutualistic relationships in microalgal co-culture systems using analytical methods that have been widely used in recent years, such as next-generation sequencing technology, is also discussed. In the future, it is expected that the use of microalgae co-culture systems will expand on an industrial scale through the development of key technologies, such as efficient genetic modification techniques for microalgae and their heterotrophic microorganism partners, large-scale cultivation facilities that can efficiently cultivate microalgae, and stable control techniques for co-culture systems using advanced technology.

Pseudomonas aeruginosa-mediated cr(VI) bioremediation: mechanistic insights and future directions

Contamination of hexavalent chromium (Cr(VI)) is a major environmental issue since it has the ability to cause cancer and genetic mutations. Bioremediation techniques using Pseudomonas aeruginosa have emerged as potential methods to tackle this problem. This study offers a thorough examination of the underlying mechanisms and potential future paths in the process of P. aeruginosa-mediated Cr(VI) remediation. Herein, the strategies used by P. aeruginosa were examined for the removal of Cr(VI) via processes such as biosorption, intracellular reduction, and extracellular metabolism. In addition, the function of extracellular polymeric substances (EPS) in capturing and isolating Cr(VI) was studied and the possibility of using genetic engineering techniques to improve P. aeruginosa’s ability to remove Cr(VI) from the environment was explored. In addition, we investigate the difficulties related to the use of P. aeruginosa for Cr(VI) bioremediation, such as environmental conditions and the presence of other microorganisms, and suggest potential areas for further study. These include the development of bioremediation strategies using consortia of microorganisms and the incorporation of nanomaterials to improve the removal of Cr(VI). This study seeks to enhance the development of sustainable solutions for remediating Cr(VI) by integrating existing information and identifying future research directions, with a focus on employing P. aeruginosa.

A genetic assessment of natural barriers for isolating a proposed Greenback Cutthroat Trout reintroduction area

AbstractObjectiveNative inland trout conservation efforts rely on physical barriers to exclude nonnative salmonids from target habitats. We used genetic techniques to evaluate a series of natural waterfalls for their potential to serve as barriers to prevent nonnative salmonids from entering a proposed reintroduction area for federally threatened Greenback Cutthroat Trout Oncorhynchus virginalis stomias.MethodsGenetic samples were collected from nonnative Brook Trout Salvelinus fontinalis at 11 sampling reaches above and below natural waterfalls (height: ~1–3 m under base flow conditions) along a 33‐km segment of Colorado's upper Cache la Poudre River near the outflow of the proposed reintroduction area. To evaluate whether upstream movement of Brook Trout is restricted by any of these waterfalls, we characterized longitudinal trends in genetic diversity along the river corridor and examined patterns of genetic differentiation and population structure in relation to waterfall locations using a panel of microsatellites.ResultWe found no evidence that the waterfalls served as complete movement barriers for nonnative Brook Trout based on genetic clustering analyses, estimates of population differentiation, and longitudinal genetic patterns. Our multilocus assessment did not identify alleles restricted to downstream reaches, and the river segment was genetically homogenized.ConclusionOur evaluation suggests that the existing waterfalls do not fully prevent upstream movement by nonnative Brook Trout, and thus barrier modification would be needed to establish an isolated Greenback Cutthroat Trout population in the proposed wilderness area.

Novel Approaches in HIV-1 Cure: Genetic Editing and Gene Repression Techniques. Topic Review

Introduction: The worldwide challenge presented by human immunodeficiency virus type 1, affecting 39 million individuals, endures despite the highly active antiretroviral therapy. Limitations of it, including insufficiently addressing viral reservoirs leading to prolonged drug toxicity, resistance concerns, and economic burdens, have fueled exploration into alternative approaches. Gene editing and gene repression techniques have emerged as potential solutions. Objective: Conduct a comprehensive analysis of recent research following Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, focusing on genetic modification and gene repression in HIV-1-infected samples. Methods: A meticulous search identified 413 articles, of which 76 met strict criteria. Inclusion criteria involved studies on gene editing and HIV-1 expression (2019–2023), emphasizing CCR5 repression. Exclusions targeted weak evidence, lacking practical efficacy, and non-relevance to HIV-1 or genetic tools. Duplicates and non-open-access articles were also excluded. Results: The identified strategies show promise in their ability to mitigate the chronicity of the infection. However, challenges such as off-target effects, ethical considerations surrounding in vivo, ex vivo, and germline editing, and variable efficacy across studies are evident. The imperative for continued evaluation, refinement of techniques, and the development of effective administration methods is underscored. Conclusions: This topic review provides a nuanced exploration of recent advancements in gene editing and gene repression techniques for managing HIV-1. While the findings suggest promising avenues, the identified challenges necessitate ongoing research and innovation in order to harness the full potential of these strategies in the quest for an effective HIV-1 solution.

Supramolecular Protein Assemblies: Building Blocks, Organism- or Cell-Specific Varieties, and Significance

In recent decades, biology has made tremendous progress in the high-throughput analytic and genetic techniques used to characterize the molecular components of living cells and their interactions [...]

Identification of SNP and SilicoDArT Markers and Characterization of Their Linked Candidate Genes Associated with Maize Smut Resistance.

The implementation of biological advancements in agricultural production is the response to the needs of the agricultural sector in the 21st century, enabling increased production and improved food quality. Biological progress in the maize breeding and seed industries is unique in terms of their social and ecological innovation aspects. It affects agricultural productivity and the adaptation of cultivated maize varieties to market demands and changing climate conditions without compromising the environment. Modern maize resistance breeding relies on a wide range of molecular genetic research techniques. These technologies enable the identification of genomic regions associated with maize smut resistance, which is crucial for characterizing and manipulating these regions. Therefore, the aim of this study was to identify molecular markers (SilicoDArT and SNP) linked to candidate genes responsible for maize smut resistance, utilizing next-generation sequencing, as well as association and physical mapping. By using next-generation sequencing (NGS) and statistical tools, the analyzed maize genotypes were divided into heterotic groups, which enabled the prediction of the hybrid formula in heterosis crosses. In addition, Illumina sequencing identified 60,436 SilicoDArT markers and 32,178 SNP markers (92,614 in total). For association mapping, 32,900 markers (26,234 SilicoDArT and 6666 SNP) meeting the criteria (MAF > 0.25 and the number of missing observations < 10%) were used. Among the selected markers, 61 were highly statistically significant (LOD > 2.3). Among the selected 61 highly statistically significant markers (LOD > 2.3), 10 were significantly associated with plant resistance to maize smut in two locations (Smolice and Kobierzyce). Of the 10 selected markers, 3 SilicoDArT (24016548, 2504588, 4578578) and 3 SNP (4779579, 2467511, 4584208) markers were located within genes. According to literature reports, of these six genes, three (ATAD3, EDM2, and CYP97A3) are characterized proteins that may play a role in the immune response that develops in response to corn smut infection. In the case of genotypes belonging to the same origin groups, markers linked to these genes can be used to select varieties resistant to corn smut. These markers will also be tested on genotypes belonging to other maize origin groups to demonstrate their universality.

The finding of black currants from sect. Eucoreosma (Grossulariaceae) in the central part of southern Primorsky Territory, Russia

Background. The ever increasing anthropogenic impact on natural populations of rare and, especially, endangered plant species has recently become even more forceful. Therefore, the finding of a small black currant population representing sect. Eucoreosma (Spach) Jancz. within a natural environment in the south of Primorsky Territory appears highly important. Previously, none of the black currant species was recorded as occurring in this area. Materials and methods. Plants from the new locality were compared with accessions of Ribes nigrum L., R. ussuriense Jancz., R. pauciflorum Turcz. ex Pojark., and R. fontaneum Boczkarn. using morphological and molecular genetics techniques. Results and conclusion. A molecular genetics analysis of two chloroplast DNA fragments excluded any association of the discovered plants with R. nigrum or R. fontaneum. Meanwhile, no differences in chloroplast DNA fragments were found between these plants and R. ussuriense and R. pauciflorum accessions. A number of morphological features attested to a possibility to attribute the finding to the rare species R. ussuriense: its isolated localities had previously been reported in southern Primorsky Territory. The differences in chloroplast DNA fragments between the Siberian/Far Eastern species R. pauciflorum and the European/Siberian species R. nigrum make doubtful their possible fusion, based only on morphological characters, and require further studies.

Identification of osteoporosis genes using family studies.

Osteoporosis is a multifactorial bone disease characterised by reduced bone mass and increased fracture risk. Family studies have made significant contribution in unravelling the genetics of osteoporosis. Yet, most of the underlying molecular and biological mechanisms remain unknown prompting the need for further studies. This review outlines the proper phenotyping and advanced genetic techniques in the form of high-throughput DNA sequencing used to identify genetic factors underlying monogenic osteoporosis in a family-based setting. The steps related to variant filtering prioritisation and curation are also described. From an evolutionary perspective, deleterious risk variants with higher penetrance tend to be rare as a result of negative selection. High-throughput sequencing (HTS) can identify rare variants with large effect sizes which are likely to be missed by candidate gene analysis or genome-wide association studies (GWAS) wherein common variants with small to moderate effect sizes are identified. We also describe the importance of replicating implicated genes, and possibly variants, identified following HTS to confirm their causality. Replication of the gene in other families, singletons or independent cohorts confirms that the shortlisted genes and/or variants are indeed causal. Furthermore, novel genes and/or variants implicated in monogenic osteoporosis require a thorough validation by means of in vitro and in vivo assessment. Therefore, analyses of families can continue to elucidate the genetic architecture of osteoporosis, paving the way for improved diagnostic and therapeutic strategies.