Vavilovskii Zhurnal Genetiki i Selektsii最新文献

One of the sources of resistance to leaf and stem rust pathogens for bread wheat is the Australian spring triticale cultivar Satu, which carries highly effective linked SrSatu/LrSatu genes localized on chromosome 3R. However, they are little used in the practical breeding of Triticum aestivum L. The main reason for that is a low level of knowledge regarding the 3R(3D) chromosomal substitution. This paper presents the results of a comparative study of the agronomic value of near-isogenic spring bread wheat siblings, L16 and L17 = Satu/Saratovskaya 70//Saratovskaya 74/3/Saratovskaya 74, differing by presence (L16 (3R(3D))) or absence (L17 (3D3D)) of chromosome 3R from Satu in 2023-2024. The 3R(3D) chromosomal substitution in L16 was detected by cytogenetic analysis combining GISH with labeled Secale cereale genomic DNA and FISH with probes pSc119.2, pAs1. Line L16 is highly resistant to Puccinia triticina and P. graminis, including the Ug99 race. PCR analysis with DNA markers of Sr genes revealed the non-identity of the resistance gene in L16 to Sr genes: Sr2, Sr24, Sr25, Sr28, Sr31, Sr32, Sr36, Sr38, Sr39, Sr47 and Sr57. L16 was inferior to both L17 and the standard cultivar Saratovskaya 76 in terms of 1,000-grain weight. An analysis of productivity elements of the main ear revealed that the 3R(3D) substitution in L16 significantly reduced the length of the ear, increased the density of the ear and did not significantly affect the number of spikelets and the number of grains per ear and the grain weight per ear. The grain protein content in L16 did not significantly differ from its L17 siblings or Saratovskaya 76. Similarly, there were no significant differences in gluten content. However, gluten in L16 was weaker in comparison with line L17 and Saratovskaya 76. According to the complex trait of SDS sedimentation, L16 was inferior to L17, but did not significantly differ from the standard cultivar. According to the alveograph, L16 had significantly lower dough elasticity and flour strength, but in comparison with the standard cultivar, the decrease in flour strength was not significant. L16 showed a higher bread volume than Saratovskaya 76, but did not significantly differ from its L17 sibling. There was no difference in porosity for all three samples. In general, in terms of the complex of agronomically valuable traits, the spring bread wheat line L16 (3R(3D)) requires further work to improve its breeding value.

The neuropeptide oxytocin (OT) secreted by specialized neurons in the hypothalamus affects social behavior and aggression in various animal species in a dose-dependent manner. Our earlier studies showed that OT administration by nasal application to adult and adolescent Norway rat males selected for enhanced aggressive response to humans reduced aggression upon the opponent in the resident-intruder test. By contrast, OT administration to rats selected for tame behavior exerted no effect on behavior or even enhanced aggression. It was still unknown how selection for behavior affected the endogenous oxytocinergic system in rats. Here we study the populations of OT-containing cells in the paraventricular and supraoptic nuclei of the hypothalamus in intact tame and aggressive rats with regard to lateralization, as the hypothalamus is known to be functionally asymmetrical. We have also assessed blood OT changes after nasal OT application to rats selected for behavior. As it is known that the effect of OT on rat aggressiveness may depend on the basal level of the latter, we have analyzed the effect of OT administration on behavior in tame and aggressive rats interacting on neutral ground, where the aggressiveness of males manifests itself less than in the defense of territory in the resident-intruder test. The asymmetry in the numbers of OT-containing cells in the left and right halves of the paraventricular and supraoptic nuclei has been observed only in tame rats. The number of such cells in the right half of tame rats is greater than in aggressive. In contrast, the blood OT level in tame rats is significantly lower than in aggressive ones both in the intact animals and after OT administration. Oxytocin administration to aggressive rats shortens aggressive interactions and lateral threats and reduces the number of the latter as compared to animals of the same behavior pattern having received saline. This observation may point to an anti-aggressive effect of OT. In tame rats, though, OT administration increases the number of hind leg kicks and kicking duration. It appears that the differences in the endogenous OTergic system of hypothalamus found in this study are associated with both the behavior formed during selection and different responses to exogenous OT in tame and aggressive animals.

To date, several genome-wide association studies (GWAS) of antisocial behavior (ASB) have been conducted in Europeans, which promoted research aimed at evaluating liability to ASB-related phenotypes in independent samples. Such studies implemented a polygenic score (PGS) approach, which represents a composite score considering a number of "risky" alleles. Since no GWAS of ASB has been conducted in Russians, the present study aimed to perform a replication study of liability to severe criminal behavior (homicide) in individuals from Russia using PGS. Moreover, we sought to obtain the best model considering PGS and potential social factors as predictors. Genotyping of the "top" ten SNPs previously identified in GWAS meta-analysis of ASB (CADM2, REV3L, FOXP1, FOXP2, BDNF, FURIN, XKR6, TMEM18, SORCS3, and ZIC4 genes) was conducted via real-time PCR in 227 homicide offenders and 254 healthy donors from the Volga-Ural region of Russia. Multiple regression models included "weighted" and "unweighted" PGS and potential social factors as predictors. The best regression model of liability to severe ASB was based on genetic effects of examined SNPs and social predictors, including traumatic brain injury, severe chronic disease, and tobacco smoking, which was more pronounced among subjects with a family history of mental illness (p = 2 × 10-13). PGS alone explained a small proportion of variance in liability to ASB (1.1-1.5 %), while the inclusion of social parameters increased variance explained (16.2-21.2 %). Revealed findings evidence a higher impact of social factors than a composite effect of selected "top" SNPs in predicting liability to ASB in the examined cohort. A higher probability of ASB was linked to comorbid substance abuse, traumatic brain injury, and family history of mental illness, which may also represent a result of a "risky" genetic profile.

Lonicera L. is one of the largest and economically significant genera in the family Caprifoliaceae Juss., with a controversial taxonomy. To contribute to its molecular taxonomy, we sequenced the plastomes of Lonicera species: Lonicera caerulea (two subspecies), L. tatarica, and L. micrantha - using next-generation sequencing technology and conducted a comparative analysis. Plastome sizes ranged from 153,985 bp in L. micrantha to 164,000 bp in L. caerulea subsp. pallasii, each containing 130 genes, including 85 protein-coding, 37 tRNA, and 8 rRNA genes. Five protein-coding (rps7, rps12, ndhB, ycf2, and ycf15), 7 tRNA (trnA-UGC, trnI-CAU, trnI-GAU, trnL-CAA, trnN-GUU, trnR-ACG, and trnV-GAC), and 4 rRNA (rrn4.5, rrn5, rrn16, and rrn23) genes were duplicated. Comparative analysis of Lonicera plastome boundaries revealed structural variations in L. caerulea subsp. altaica and L. caerulea subsp. pallasii, particularly in ndhA gene distribution. Three highly variable, two intergenic (ycf1-trnN-GUU and trnN-GUU-ndhF) and one genic (accD) region were identified. A total of 641 simple sequence repeats were detected in four plastomes. Phylogenetic analyses grouped Lonicera samples into two clades corresponding to subgenera Periclymenum and Chamaecerasus. In this study, the plastid genomes of two subspecies of L. caerulea and species L. micrantha were sequenced for the first time. The maximum likelihood tree derived from complete plastid genome sequences proved to be the most informative, showing a topology consistent with previous studies. The nucleotide sequences of variable regions (accD-ycf1-ndhF-trnN-GUU) demonstrate high potential for use in DNA barcoding and may serve as valuable molecular markers for species phylogenetic studies within the genus Lonicera.

The ability of trehalose to improve metabolic parameters in mice with experimental obesity has been shown to depend on the type of obesity model. In db/db mice, it reduced body weight, insulin, blood glucose, and cholesterol levels. In mice with obesity induced by high-fat dietary intake, it had no effect on body weight but reduced blood insulin levels with compensatory upregulation of insulin signaling gene expression. We studied the effect of trehalose on overweight and metabolic parameters in C57BL/6 inbred mice with obesity induced by a high carbohydrate-fat diet, the "cafeteria diet". The cafeteria diet consisted of free access to water, standard chow, fatty foods (lard), and carbohydrates (biscuits) for 18 weeks. All mice were then randomly divided into four groups for four weeks of treatment: (1) water drinking, (2) drinking 3 % trehalose, (3) cafeteria diet and drinking water, (4) cafeteria diet and drinking 3 % trehalose. Alterations in body mass, food intake, fluid intake, dietary calories, blood biochemical parameters (glucose, triglyceride, cholesterol, HDL, ALT, creatinine levels), expression of carbohydrate metabolism (Slc2a2, Insr) and autophagy (Atg8, Becn1, Park2) genes in the liver were studied. The cafeteria diet obesity model was accompanied by some signs of metabolic syndrome as it induced an increase in body weight (by 25 %), calorie intake (by 25 %), blood levels of glucose (by 35 %), cholesterol (by 66 %), and triglycerides (by 23 %) in mice. Trehalose had little effect on control mice, causing a decrease in standard food intake and an increase in dietary caloric intake by the number of calories from trehalose itself. In obese mice, trehalose increased total caloric intake and biscuit consumption but had no substantial effect on body weight gain, blood metabolic parameters, or expression of liver genes regulating glucose transport (Slc2a2), insulin sensitivity (Insr), and autophagy processes (Atg8, Becn1, Park2). Since the cafeteria diet is the most adequate model of alimentary obesity development in humans, our results question the use of trehalose to correct the dietary type of obesity in humans.

Recent genome-wide association studies have identified a link between the RAB29 gene and Parkinson's disease (PD). The Rab29 protein encoded by RAB29 regulates leucine-rich repeat kinase 2 (LRRK2). Mutations in the LRRK2 gene increase its kinase activity and contribute to autosomal dominant forms of PD. Previous research has shown that altered LRRK2 kinase activity may correlate with the activity of lysosomal hydrolases and the concentration of sphingolipids. This study aimed to assess the association of the rs823144 variant in the promoter region of the RAB29 gene with PD risk, and to evaluate RAB29 expression, lysosomal hydrolase activity, and sphingolipid concentrations in the blood of PD patients. We screened the rs823144 variant of the RAB29 gene in a cohort of PD patients (N = 903) and controls (N = 618) using next-generation sequencing (NGS) and polymerase chain reaction (PCR) followed by restriction fragment length polymorphism analysis. The expression of the RAB29 gene was measured in peripheral blood mononuclear cells (PBMCs) using qPCR. We assessed the activities of lysosomal hydrolases (glucocerebrosidase (GCase), alpha-galactosidase (GLA), acid sphingomyelinase (ASMase), and galactosylcerebrosidase (GALC)) and the concentrations of sphingolipids (globotriaosylsphingosine (LysoGb3), sphingomyelin (LysoSM), and hexosylsphingosine (HexSph)) in blood using high-performance liquid chromatography with tandem mass spectrometry (HPLC-MS/MS). The RAB29 rs823144 C allele was associated with a reduced risk of PD in the Northwestern Russian population (OR = 0.7806, 95 % CI: 0.6578-0.9263, p = 0.0046), which is consistent with global data. However, no significant association was observed between the rs823144 C allele and RAB29 mRNA expression in PBMCs. Notably, the C allele was associated with increased GLA activity and decreased concentrations of LysoGb3 and LysoSM in the blood of PD patients. In conclusion, we demonstrate for the first time an association between the RAB29 rs823144 C allele and a reduced risk of PD in the Northwestern Russian population. Moreover, the RAB29 rs823144 C allele is associated with altered lysosomal enzyme activity and sphingolipid profiles, suggesting a potential role of RAB29 in sphingolipid metabolism relevant to PD pathogenesis.

Transcription factors represent one of the major groups of proteins, whose suppression leads to tumor growth arrest. Different types of cancer express a specific set of transcription factors that create and maintain unique patterns of gene expression. In prostate cancer cells, one of the key transcriptional regulators is the HOXB13 (Homeobox B13) protein. HOXB13 is known to be an important regulator of embryonic development and terminal cell differentiation. HOXB13 regulates the transcription of many genes in normal and transformed prostate cells and is also capable of acting as a pioneer factor that opens chromatin in the regulatory regions of genes. However, little is known about the protein partners and functions of HOXB13 in prostate cells. In the present study, we searched for protein partners of HOXB13 by immunoaffinity purification followed by high-throughput mass spectrometric analysis (IP/LC-MS) using the PC-3 prostate cancer cell line as a model. The main partners of HOXB13 were found to be transcription factors with different types of DNA-binding domains, including the TBX3, TBX2, ZFHX4, ZFHX3, RUNX1, NFAT5 proteins. Using the DepMap resource, we have shown that one of the identified partners, the TBX3 protein is as critical for the growth and proliferation of prostate cancer cell lines in vitro as HOXB13. Analysis of individual prostate cancer cell lines revealed that knockout of both genes, HOXB13 and TBX3, leads to the death of the same lines: VCaP, LNCaP (clone FGC), PC-3 and 22Rv1. Thus, HOXB13 and TBX3 can be considered together as potential targets for the development of specific inhibitors that suppress prostate cancer cell growth.

Interstitial deletions of the short arm of chromosome 6 are even rarer than distal deletions of 6p24-pter, with an incidence rate of 1:1,000,000 (according to MalaCards, https://www.malacards.org/). These deletions are associated with developmental delays, autism spectrum disorders, congenital anomalies, and dysmorphic features. The objective of our study was to identify chromosomal abnormalities in twins from a Yakut family exhibiting severe psycho-speech developmental delays, intellectual disability combined with dysmorphisms, and congenital anomalies. In this paper, two new cases involving monozygotic twins from a Yakut family, who underwent array comparative genomic hybridization (aCGH), were reported. The diagnostic results revealed a rare interstitial deletion in the region 6p22.3-p24.3, measuring 7.5 Mb, which was subsequently confirmed using a conventional cytogenetics (GTG-banding) method. According to the cytogenetic analysis, the karyotypes of the parents were normal, indicating a de novo structural chromosomal rearrangement in the patients. Additionally, a comparative phenotypic analysis of these twins with each other and with other previously reported patients was performed; they were found to have overlapping deletions in the 6p22-p24 region. Furthermore, a literature review and an analysis of the gene content of the deleted region 6p22.3-p24.3 were conducted, and so was a discussion of the genotype-phenotype correlation. The results of the phenotypic analysis revealed both common and distinct dysmorphogenic features, including craniofacial dysmorphisms, deformities of the auricles, and abnormalities in the development of the upper and lower limbs, which are often mentioned in the literature. However, the analyzed data, both from the literature and our observations, showed that all patients lacked a common deleted region in the 6p22-p24 area, creating challenges in establishing an accurate diagnosis. The findings indicate the complexity of defining the minimally overlapping region responsible for the observed phenotypic and behavioral traits and highlight the importance of a systematic and multi-level approach to diagnosing severe psycho-speech developmental delays.

The Forest and Tundra Nenets in different areas of the Yamalo-Nenets Autonomous Okrug were studied using Y-chromosome markers. The results of analyzing the genetic structure of Nenets clans using 44 STR markers of the Y chromosome are presented, taking into account their presence in subethnoses (Tundra and Forest Nenets), as well as to the Kharyuchi ("true Nenets") and Vanuito ("foreigners") phratries. The number of the Nenets (N = 606) includes the Tundra (N = 536) and Forest (N = 70) Nenets. Sublineage N1a2b1b1a~-B170 is specific for the clans in the Kharyuchi phratry, and sublineage N1a2b1b1b-B172, for the clans in the Vanuito phratry. Most Forest Nenets clans have haplogroup N1a2b1-B478. All males of the Pyak clan, which is prevalent in the Forest Nenets, have a specific haplogroup, N1a1a1a1a2a1c1~. The results of the study suggest that the Nenets clan associations typically have a common ancestor in the male line and are characterized by a recent founder effect. Each Nenets clan has its own specific cluster of haplotypes, equidistant from each other. The structure of Y-chromosome haplotypes and haplogroups in the Nenets gene pool includes the Nenets heritage from the Khanty and Enets. Many samples from these sample sets were shown to have rare haplotypes that were absent from the baseline data and to differ significantly from the other haplotypes found in the populations. They belong to various rare branches of the Y-chromosome haplogroups found only in these sample sets. Some samples form haplotype variants that have not been described previously and allow us to characterize the phylogeny of these lineages in more detail. The Forest and Tundra Nenets differ greatly in the composition of haplogroups, which is fully consistent with ethnological and linguistic data on the origin of these populations. The predominant haplogroups are N1a1a1a1a2a1c1~-Y13850, Y13852, Y28540 CTS9108 (xY24219, Y24375) and N1a2b1-B478, Z35080, Z35081, Z35082, Z35083, Z35084 (xB169) in the Forest Nenets, and N1a2b1b1a~-B170 (xZ35104), N1a1a1a1a2a1c~-Y13850, Y13852, Y13138, PH3340 (xY24219, Y24365) and N1a2b1b1b-B172, Z35108 in the Tundra Nenets.