The DELLA Proteins Influence the Expression of Cytokinin Biosynthesis and Response Genes During Nodulation

The key event that initiates nodule organogenesis is the perception of bacterial signal molecules, the Nod factors, triggering a complex of responses in epidermal and cortical cells of the root. The Nod factor signaling pathway interacts with plant hormones, including cytokinins and gibberellins. Activation of cytokinin signaling through the homeodomain-containing transcription factors KNOX is essential for nodule formation. The main regulators of gibberellin signaling, the DELLA proteins are also involved in regulation of nodule formation. However, the interaction between the cytokinin and gibberellin signaling pathways is not fully understood. Here, we show in Pisum sativum L. that the DELLA proteins can activate the expression of KNOX and BELL transcription factors involved in regulation of cytokinin metabolic and response genes. Consistently, pea la cry-s (della1 della2) mutant showed reduced ability to upregulate expression of some cytokinin metabolic genes during nodulation. Our results suggest that DELLA proteins may regulate cytokinin metabolism upon nodulation

Novel GLIS3 mutation in patient with neonatal diabetes mellitus and congenital hypothyroidism (NDH-syndrome)

Mutations in the GLIS3 gene encoding the GLIS3 transcription factor are cause of a rare syndromic form of neonatal diabetes mellitus (NDM) with congenital hypothyroidism. Additional features include congenital glaucoma, hepatic fibrosis, polycystic kidneys, developmental delay and other anomalies. This disease in foreign literature is called NDH-syndrome (Neonatal diabetes and Hypothyroidism syndrome).We present the description of a patient with this syndrome with novel homozygous GLIS3 mutation.Our patient is a female, who was born with a weight of 1680 gr, length of 44 cm to consanguineous parents. She developed diabetes on 2 day after birth, requiring continuous intravenous insulin. On day 5 of life hypothyroidism was identified. ­Thyroid anatomy was normal on ultrasound scan. NDH syndrome was suspected.Genetic analysis revealed a novel homozygous mutation c.1836delT, p.Ser612ArgfsTer33 in exon 5 in GLIS3 gene.To date, the patient is followed up for 4 years in total. Currently, growth retardation, psychomotor and speech development persist. Carbohydrate metabolism and thyroid profile has been subcompensated against the background of replacement therapy. No other components of the syndrome have been identified.In this report, we have demonstrated the features of the neonatal diabetes mellitus in a patient with a defect in the GLIS3 gene. Early genetic verification of the diagnosis contributes to the timely starting of personalized therapy, can improve the quality of life of such patients, and, given the nature of inheritance, is necessary for medical genetic counseling of the family

On the results of the Second Scientific Forum “Genetic Resources of Russia”

The Second Scientific Forum “Genetic Resources of Russia” was held in St. Petersburg, June 26-28, 2023. Thе Forum comprised nine associated scientific conferences and conference schools dedicated to the establishment, formation, conservation, development, studying and utilization of biological (bioresource) collections as well as to the activities of bioresource centers, and a round table entitled “Statutory Legal Regulation and Standards for the Work with Bioresource Collections”. More than 700 researchers representing over a hundred scientific institutions and universities from Russia and other countries participated in the Forum. In total, more than 200 oral presentations were made during those events (including 16 talks at the Forum’s Plenary Session). The participants of the Forum events thoroughly discussed the results of the Federal Scientific and Technical Program for the Development of Genetic Technologies for 2019-2030 associated with the establishment and development of bioresource collections for research in the field of genetic technologies, the prospects for the promotion of this sector, and the regulatory legal framework in the sphere of ensuring conservation and development of biological (bioresource) collections, establishment and functioning of bioresource centers, and their sustainable and rational utilization in scientific research and development activities. The outcome of those discussions is presented in this publication in the form of the Forum’s Resolution. Upon reviewing the results of the Federal Scientific and Technical Program for the Development of Genetic Technologies for 2019-2030 pertaining to the establishment and development of bioresource collections for research in the field of genetic technologies, the Forum recognized them as successful. The Forum approved the draft of the legal act “On Bioresource Centers and Biological (Bioresource) Collections”, which is currently under consideration in the State Duma of the Russian Federation and emphasized the need for its soonest adoption

On the results of the First Scientific Forum «Genetic Resources of Russia»: prospects for development, research and practical potential of bio-collections

Nine separate scientific conferences and school-conferences dedicated to the conservation, development, study and practical use of biological collections of various types were held under the auspices of the First Scientific Forum “Genetic Resources of Russia”, which took place in Saint Petersburg on 21-24 June 2022. A total of more than 300 oral presentations were made at these events. The Forum plenary sessions, which included 25 lectures, attracted more than 1,500 participants. The development prospects, research and scientific-practical potential of biological collections were thoroughly discussed at the events of the Forum. The results of these discussions are presented in this publication in the form of a Forum resolution. The strategic role of biological collections for the conservation of genetic diversity, for the scientific and technological development of society and for the provision of educational processes is emphasized. This strategic framework, which should be developed and maintained, also makes it possible to implement practical tasks related to meeting the challenges in the field of food and environmental security, health care and technological independence in the rapidly developing spheres of the economy

The first scientific forum «Genetic resources of Russia» - on legal regulation in the field of bioresources and biological collections

The first scientific forum «Genetic Resources of Russia» took place in Saint Petersburg on 21-24 June 2022. The Forum brought together more than 500 specialists from more than 100 research institutions and universities of the Russian Federation. A round table «Regulations and standards of work with bio-resource collections» was organized within the framework of the Forum in connection with the relevance to create the legislation base for the work with biological collections and regulation of the activities of bioresource centres in the Russian Federation. This publication presents the outcomes of the Forum and its resolution relating to the legal regulation of biological collections

Clinical, hormonal and molecular-genetic characteristics of monogenic diabetes mellitus associated with the mutations in the <i>INS</i> gene

Background: Currently more than 50 mutations of the INS gene are known to affect the various stages of insulin biosynthesis in the beta cells of the pancreas. However only individual cases of diabetes mellitus (DM) associated with heterozygous mutations in the coding region of the INS gene were reported in Russian Federation. We report a group of patients with a clinical manifestation of DM caused by mutations in both coding and non-coding regions of the INS gene. The patients with a mutation in the intron of the INS gene are reported for the first time in Russian FederationMaterials and methods: 60 patients with an isolated course of neonatal DM (NDM), 52 patients with a manifestation of DM at the age of 7–12 months and the absence of the main autoimmune markers of type 1 DM, 650 patients with the MODY phenotype were included in the study. NGS technology was used for molecular genetic research. Author’s panel of primers (Custom DNA Panel) was used for multiplex PCR and sequencing using Ion Ampliseq™ technology. The author’s panel “­Diabetes Mellitus” included 28 genes (13 candidate genes of MODY and other genes associated with DM).Results: 13 heterozygous mutations were identified in 16 probands and 9 relatives. The majority of mutations were detected in patients with PNDM (18.75%) and in patients with an onset of DM at the age of 7–12 months (9.6%). Mutations in the INS gene were detected in 2 patients (0.3%) in the group with the MODY phenotype. Mutations in the INS gene were not detected in patients with transient NDM (TNDM). Analysis of clinical data in patients with PND and onset of diabetes at the age of 7–12 months did not show significant differences in the course of the disease. The clinical characteristics of the cases of MODY10 and diabetes caused by a mutation in the intron of the INS gene are reported in details.Conclusion: The role of INS gene mutations in NDM, MODY, and DM with an onset at the age of 7–12 months was analyzed in a large group of patients. The clinical characteristics of DM due to a mutation in the intron of the INS gene are reported for the first time in the Russian Federation

Two Novel Amyloid Proteins, RopA and RopB, from the Root Nodule Bacterium Rhizobium leguminosarum

Amyloids represent protein fibrils with a highly ordered spatial structure, which not only cause dozens of incurable human and animal diseases but also play vital biological roles in Archaea, Bacteria, and Eukarya. Despite the fact that association of bacterial amyloids with microbial pathogenesis and infectious diseases is well known, there is a lack of information concerning the amyloids of symbiotic bacteria. In this study, using the previously developed proteomic method for screening and identification of amyloids (PSIA), we identified amyloidogenic proteins in the proteome of the root nodule bacterium Rhizobium leguminosarum. Among 54 proteins identified, we selected two proteins, RopA and RopB, which are predicted to have β-barrel structure and are likely to be involved in the control of plant-microbial symbiosis. We demonstrated that the full-length RopA and RopB form bona fide amyloid fibrils in vitro. In particular, these fibrils are β-sheet-rich, bind Thioflavin T (ThT), exhibit green birefringence upon staining with Congo Red (CR), and resist treatment with ionic detergents and proteases. The heterologously expressed RopA and RopB intracellularly aggregate in yeast and assemble into amyloid fibrils at the surface of Escherichia coli. The capsules of the R. leguminosarum cells bind CR, exhibit green birefringence, and contain fibrils of RopA and RopB in vivo.This work was supported by the Russian Science Foundation, grant 17-16-01100