Mitochondrial Heteroplasmy in Marsh Frog ( Pelophylax ridibundus Pallas, 1771) Abstract The population features of nuclear and mitochondrial genomes of P. ridibundus Pallas, 1771 and related species of green frogs from Nizhny Novgorod and Sverdlovsk oblasts were investigated for the first time. The existence of the R–E–L population system on the territory of Nizhny Novgorod oblast was confirmed. The presence of heteroplasmy was found in all examined samples of marsh frogs, as well as in hybrid, edible, frogs. These findings indicate the presence of hybridization and introgressions that took place in the history of the studied forms of each of the species. Considerable heterogeneity of animals from the territory of Sverdlovsk oblast in the nuclear and to a higher degree in the mitochondrial genome was demonstrated, which with high probability indicates that the populations existing in this territory originated from multiple introductions. The obtained data characterize the state of population systems, as well as the history of the formation of the modern phylogenogeographic pattern of green frogs on the studied territories.

Regression Model for Time to Flowering of Chickpea Landraces Abstract Regression models for time to flowering had been developed for VIR chickpea landraces collected in Turkey and Ethiopia. Predicted flowering time coincides closely with experimental data. The difference between models is statistically significant. The impact of the temperature to the model for Ethiopia landraces is weaker than that for Turkey landraces, 48 and 60% respectively. The impact of precipitation on phenotype is more than 80%. The obtained results are in agreement with climate characteristics at collection sites.

Distribution of Hybrid Necrosis Alleles in Genotypes of Aboriginal Common Wheat Cultivars from Afghanistan, Palestine, and Transjordan Abstract Necrotic genotypes of the aboriginal common wheat cultivars (Triticum aestivum L.) from Iran, Afghanistan, Palestine, and Transjordan were studied. It was shown that the cultivars carrying Ne1w and Ne1m alleles prevailed in all geographical regions, while the Ne1s allele was found only in the Afghanistan cultivars. The occurrence of the Ne1s allele may indicate that hexaploid common wheat emerged as a result of spontaneous hybridization between T. durum and Ae. squarrosa. The noncarriers (genotype ne1ne1ne2ne2) occupy virtually all the regions examined. They comprise 77.8% in Iran, 80.8% in Afghanistan, 92.9% in Palestine, and 80.0% in Transjordan. The carriers of the ne1ne1ne2ne2 genotype predominate among the spring cultivars of common wheat.

Analysis of Spring Triticale Collection for Leaf Rust Resistance Genes with PCR Markers Abstract The results of PCR analysis of the collection of spring triticale accessions for the presence of genes Lr9, Lr12, Lr19, Lr24, Lr25, Lr28, Lr29, and Lr47 (conferring resistance to wheat leaf (brown) rust caused by Puccinia triticina Erikss.) with the use of molecular markers and isogenic lines carrying target genes (as a positive control) are presented in this article. The absence of positive PCR amplification of the DNA markers for the Lr9, Lr24, Lr28, Lr29, and Lr47 genes is observed in all the studied accessions of the spring triticale collection. The accessions Lena 1270, 25AD20, k-1763, k-3256, and Arta 59 are found to carry the Xgwm251 marker allele of the same size as that of isogenic Thatcher line with Lr25. PCR analysis using the LrAg marker shows that such triticale accessions as Pamyati Merezhko, Ulyana, V20-140, S17, PRAG 554/1, C95, 08871, RIL-130 R22-2, 172-1-16, C250, 08857, 09228, 131/17, A2-16-11, POPW9, PRAG 500, C260, Arta116/2, PRAG 554, AVS19883, k-1220, PRAG 553/1, C254, PRAG 518, PRAG 418, R-7-5 RIL202, L2413, and L8-6 carry a fragment close in size to that of the isogenic Thatcher line with Lr19 (used as positive control). Thus, we have shown that the gene pool of spring triticale is extremely depleted in leaf rust resistance genes. Active work is required on the introgression of new resistance genes both from the known donor lines of triticale and from bread wheat.

Shared Signatures of Selection Related to Adaptation and Acclimation in Local Cattle and Sheep Breeds from Russia Abstract The aim of this study was to identify common candidate genes related to environmental adaptation including the cold climates in Russian native cattle and sheep breeds. We made use of our previously published data on candidate regions under selection in the genomes of nine Russian native cattle breeds and 15 Russian sheep breeds using two approaches: the hapFLK and DCMS. We choose one top gene per candidate region under selection for the present study. The total number of genes across all selected regions was 2143 for the cattle and 7706 for the sheep breeds (p-value < 0.05). Of these 1262 genes were shared between the two lists and potentially underwent positive selection in both species. Among them 31 genes were independently reported to be under selection in at least two species of cold-adapted Arctic mammals. Strikingly, the NEB gene, likely associated with heat production via shivering thermogenesis, was found in positively selected regions in the cattle, sheep, mammoth, polar bear, and whale genomes. The shared list of 1262 genes was enriched for genes that are expressed in the brain, uterus, and blood vessels. The latter group may be associated with adaptation to cold climates due to the known contribution of blood vessels to thermogenesis. Our analysis points to a list of shared genes which could be related to adaptation to cold climates in the Russian cattle and sheep breeds and animals from the Arctic region.

Detection of Haplotypic Structure for Genome of Azerbaijani Buffalo Using High Density SNP Markers Abstract The aim of this study was to determine genome-wide haplotype block structure, extent of linkage disequilibrium (LD) and effective population size using the information obtained from 243 Azerbaijani buffalo (Axiom® Buffalo Genotyping 90 K) using a high density SNP panel. After quality control, 62,141 SNP markers remained for population structure analysis and identification of haplotype blocks. The extent of LD was measured by the square of correlation coefficient (r2) between alleles. The maximum LD varied from 0.25 to 0.29 at a distance of <2.5 kb, and the minimum average values of r2 varied from 0.012 to 0.014 at distances ranging from 900 to 1000 kb. Overall, 1693 blocks were observed through the genome. Eleven percent of all SNPs were clustered into haplotype blocks, covering 202 ± 3.4 Mb of the total autosomal genome size. Using formula which relate expected LD to effective population size (Ne), and assuming a constant actual population size, Ne was 422 in our population.

Molecular Mechanisms of Carcinogenesis Associated with MEN1 Gene Mutation Abstract Despite recent advances in genomics and the discovery of numerous genes involved in carcinogenesis, the mechanisms of malignant transformation of different tissues remain poorly understood in most cases. This review presents the current knowledge on the role of the MEN1 gene and its protein product menin in the development of multiple endocrine neoplasia type 1 (MEN1), or Wermer’s syndrome. Here, we discuss the putative molecular and genetic mechanisms of carcinogenesis associated with the MEN1gene mutation, as well as available and promising in vivo and in vitro models for studying the molecular basis of the disease. The lack of clear data on the role of the MEN1 gene in tumor initiation and progression in patients with MEN1 syndrome allows us to suggest two models for occurrence of malignant transformation in endocrine tissues.

Testing Safety of Genetically Modified Products of Rice: Case Study on Sprague Dawley Rats Abstract Genetic engineering is considered as background for crop protection against pest damage by adding new genes inside the grains. Rice, like other cereals is included in gene engineering experiments. The questions about possible gene transfer related to food safety appear. It is important to find any additional genes or fragments in animal tissues after consumption of genetically modified (GM) food. Therefore, in this study, the remaining of CryIA(b) gene and P35 were assessed in the liver of rats fed with GM rice. This work presents an experimental study with the intervention of GM rice feeding by Sprague Dawley rats. Overall, 20 male and 20 female SD rats were fed by pellets made by GM rice in 50% of needed carbohydrate for 90 days. Then, sampling was done from rats liver. DNA extraction was done based on the protocol. The quality and quantity of the extracted DNA was done by agarose gel electrophoresis and spectrophotometry, respectively. Detection of GM genes residues, including CryIA(b), P35, and T35 was done by Polymerase Chain Reaction using specific primer pairs. The results were analyzed by agarose gel electrophoresis alongside with 50 bp DNA ladder. The results were compared with the ones in control groups with feeding by standard pellet of non-modified rice. All amplification tests were done in triplicates. Analysis of the amplification of P35, CryIA(b) and T35 showed no residues inside the liver tissue. The results showed no significant difference in the presence of transgenic gene of cryIA(b), T35, and P35 in the liver tissue between the control and experiment groups. Therefore, this study rejects the possibility of gene settle of GM rice gene residues in liver tissue of the animal model studied.

Molecular-Genetic Study of Phenylketonuria in Patients from Georgia Abstract A molecular-genetic study of the full mutation spectrum in phenylketonuria (PKU) in patients from Georgia was conducted for the first time. The frequency of PKU according to neonatal screening over 15 years was 1 : 6111 newborns. One hundred forty probands diagnosed with phenylketonuria were examined. The following methods were used: detection of 25 frequent mutations in the PAH gene, next generation sequencing of the PAH, PTS, GCH1, PCBD1, QDPR, SPR, and DNAJC12 genes, and the MLPA method for search for large deletions and duplications. The most frequent pathogenic variants identified during the study were p.Pro281Leu (33.7%), IVS10-11G>A (21.1%), and p.Arg261* (8.6%). Mutations were found on 97.8% of the chromosomes studied. Two pathogenic variants were identified in 135 probands (96.4%); the diagnosis of phenylketonuria was confirmed. According to the results of the prediction of a potential response to the sapropterin therapy based on the genotype, the absence of therapy response would be observed in 70% of probands. No patients with BH4-dependent forms of hyperphenylalaninemia were found in this study.

Complex Molecular Diagnostics of Hemophilia A in Russian Patients Abstract Hemophilia A is a frequent X-linked recessive blood clotting disorder. It is caused by mutations in the F8 gene (locus Xq28) and affects 1 in 5000 newborn boys. The aim of this study was to determine the spectrum of the F8 gene mutations in the Russian patients with hemophilia A. Samples from 117 unrelated families with an incoming diagnosis of hemophilia A were tested by IS-PCR, multiplex PCR, MPS technology, and quantitative MLPA analysis. Mutations were found in all 117 cases. Lof mutations in the VWF gene in the compound-heterozygous state were detected in two patients, two patients had pathogenic variants in the F9 gene, and one patient had a pathogenic variant in the F7 gene. These patients were excluded from further calculations. Intron 22 inversion was detected in 40% of cases, intron 1 inversion in 1% of cases, and gross deletions/duplications in 6% of cases. Point mutations accounted for 53%: missense mutations, 27%; small deletions, 10%; splice site mutations, 6%; nonsense mutations, 5%; and small duplications, 5%. Eighteen mutations were not described previously. Most of them are Lof mutations. Thus, it is necessary to employ different methods for the effective molecular diagnostics of hemophilia A.