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The oomycete Phytophthora infestans (Mont.) de Bary is a causative agent of the most harmful potato disease, late blight. The pathogenicity of P. infestans is associated with (a)virulence genes (Avr genes). Changes in the composition and nucleotide sequence of these genes lead to the emergence of new races of the pathogen, which affect potato varieties previously considered resistant. Therefore, to successfully combat late blight, it is important to study polymorphisms in Avr genes in populations of this pathogen. We conducted a large‐scale molecular and phytopathological study of P. infestans strains collected in European Russia. In this study, polymorphisms of 11 Avr genes were analysed using SSCP analysis and sequencing. The genes included Avr1, Avr2, Avr2‐like, Avr3a, Avr3b, Avr4, Avr8, Avr‐Smira1, Avr‐blb1, Avr‐blb2 and Avr‐vnt1. As a result, the allelic composition of Avr genes was studied and new alleles unique to Russia were identified in Russian populations of P. infestans for all studied Avr genes, with the exception of Avr4 and Avr8. The vast majority of the Avr1, Avr2‐like, Avr3a, Avr4, Avr‐vnt1 and Avr‐Smira1 gene sequences correspond to known virulence variants of these genes that avoid recognition by the corresponding potato resistance genes. The Avr‐blb2 gene was represented by approximately equal amounts of virulent and avirulent variants. Predominantly avirulent variants were found for the Avr‐blb1 gene. The Avr2, Avr3b and Avr8 genes were represented only by avirulent variants. Summarising the results of our study, we can conclude that the populations of the European territory of Russia differ from the populations of Europe and the USA in the allelic composition of virulence genes. We failed to detect a dominant clonal lineage in the territory of Russia, and the Russian population of P. infestans is highly diverse. [ABSTRACT FROM AUTHOR]

Potato virus Y, an important viral pathogen of potato, has several genetic variants and geographic distributions which could be affected by environmental factors, aphid vectors, and reservoir plants. PVY is transmitted to virus-free potato plants by aphids and passed on to the next vegetative generations through tubers, but the effects of tuber transmission in PVY is largely unknown. By using high-throughput sequencing, we investigated PVY populations transmitted to potato plants by aphids in different climate zones of Russia, namely the Moscow and Astrakhan regions. We analyzed sprouts from the tubers produced by field-infected plants to investigate the impact of tuber transmission on PVY genetics. We found a significantly higher diversity of PVY isolates in the Astrakhan region, where winters are shorter and milder and summers are warmer compared to the Moscow region. While five PVY types, NTNa, NTNb, N:O, N-Wi, and SYR-I, were present in both regions, SYRI-II, SYRI-III, and 261-4 were only found in the Astrakhan region. All these recombinants were composed of the genome sections derived from PVY types O and N, but no full-length sequences of such types were present. The composition of the PVY variants in the tuber sprouts was not always the same as in their parental plants, suggesting that tuber transmission impacts PVY genetics. [ABSTRACT FROM AUTHOR]

Background: The reduction in next-generation sequencing (NGS) costs allows for using this method for newborn screening for monogenic diseases (MDs). In this report, we describe a clinical case of a newborn participating in the EXAMEN project (ClinicalTrials.gov Identifier: NCT05325749). Methods: The child presented with convulsive syndrome on the third day of life. Generalized convulsive seizures were accompanied by electroencephalographic patterns corresponding to epileptiform activity. Proband WES expanded to trio sequencing was performed. Results: A differential diagnosis was made between symptomatic (dysmetabolic, structural, infectious) neonatal seizures and benign neonatal seizures. There were no data in favor of the dysmetabolic, structural, or infectious nature of seizures. Molecular karyotyping and whole exome sequencing were not informative. Trio WES revealed a de novo variant in the KCNJ9 gene (1:160087612T > C, p.Phe326Ser, NM_004983), for which, according to the OMIM database, no association with the disease has been described to date. Three-dimensional modeling was used to predict the structure of the KCNJ9 protein using the known structure of its homologs. According to the predictions, Phe326Ser change possibly disrupts the hydrophobic contacts with the valine side chain. Destabilization of the neighboring structures may undermine the formation of GIRK2/GIRK3 tetramers necessary for their proper functioning. Conclusions: We believe that the identified variant may be the cause of the disease in this patient but further studies, including the search for other patients with the KCNJ9 variants, are needed. [ABSTRACT FROM AUTHOR]

In order to determine genetic loci associated with decreasing risk of uterine leiomyomata (UL), a genome-wide association study (GWAS) was performed. We analyzed a group of patients with a family history of UL and a control group consisting of patients without uterine fibroids and a family predisposition to this pathology. Six significant single nucleotide polymorphisms were selected for PCR-genotyping of a large data set of patients with UL. All investigated loci (rs3020434, rs11742635, rs124577644, rs12637801, rs2861221, and rs17677069) demonstrated the lower frequency of minor alleles within a group of women with UL, especially in a subgroup consisting of patients with UL and a familial history of leiomyomata. We also found that the minor allele frequencies of these SNPs in our control group were higher than those across the Caucasian population in all. Based on the obtained data, an evaluation of the common risk of UL was performed. Further work will pave the way to create a specific SNP-panel and allow us to estimate a genotype-based leiomyoma incidence risk. Subsequent studies of genetic variability in a group of patients with a familial predisposition to UL will allow us to make the prediction of the development and course of the disease more individualized, as well as to give our patients personalized recommendations about individual reproductive strategies. [ABSTRACT FROM AUTHOR]