Vavilovskii Zhurnal Genetiki i Selektsii最新文献

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Prevalence of AZFс Y chromosome microdeletions and association with spermatogenesis in Russian men from the general population. 俄罗斯普通人群中azf - Y染色体微缺失的患病率及其与精子发生的关系
IF 0.9
Vavilovskii Zhurnal Genetiki i Selektsii Pub Date : 2024-11-01 DOI: 10.18699/vjgb-24-86
L V Osadchuk, G V Vasiliev, M K Ivanov, M A Prasolova, M A Kleshchev, A V Osadchuk
{"title":"Prevalence of AZFс Y chromosome microdeletions and association with spermatogenesis in Russian men from the general population.","authors":"L V Osadchuk, G V Vasiliev, M K Ivanov, M A Prasolova, M A Kleshchev, A V Osadchuk","doi":"10.18699/vjgb-24-86","DOIUrl":"https://doi.org/10.18699/vjgb-24-86","url":null,"abstract":"<p><p>The Y chromosome contains a set of genes with testis-specific expression that are responsible for the development of testes and spermatogenesis, and it is the most important target in the search for genetic causes of male infertility. Most of these genes are located in the \"azoospermia factor\" AZF locus (regions AZFa, AZFb, and AZFc) on the long arm of the Y chromosome. Microdeletions of the Y chromosome, leading to the removal of the entire AZF locus as well as one or more regions (complete deletions), are one of the leading causes of spermatogenesis impairment and infertility. However, the role of partial AZFc deletions (gr/gr, b2/b3, b1/b3) in spermatogenesis failure is unclear, and their impact on spermatogenesis varies between populations. The aim of the present study was to assess the frequency of various types of AZFc microdeletions and to search for associations with spermatogenesis parameters in men of Slavic ethnicity from the general Russian population (n = 700, average age 25.8 years). To identify AZF microdeletions, the presence/absence of 15 STS markers was analyzed using multiplex real-time polymerase chain reaction. Age, weight, height, and the volume, concentration, total count, proportion of motile and morphologically normal spermatozoa in the ejaculate were recorded for all participants. In the studied sample, 19.9 % (139/700) of men were found to have AZFc microdeletions, of which 16.7 % (117/700) were carriers of a partial b2/b3 deletion, 3.0 % (21/700) had a partial gr/gr deletion, and 0.14 % (1/700) had a complete b2/b4 deletion. Neither AZFa nor AZFb microdeletions nor other types of AZF deletions were detected. The overall frequency of all types of AZFc deletions, as well as each type of partial microdeletion, b2/ b3 and gr/gr, did not differ in the groups of azoospermia, severe oligozoospermia (≤5.0 mill/ml), oligozoospermia (5.0 < SC <16.0 mill/ml), and normal sperm concentration (≥16.0 mill/ml). Comparison of semen parameters in groups with different types of partial AZFc deletions and the control group (without deletions) also did not reveal significant differences. Thus, partial AZFc microdeletions b2/b3 and gr/gr do not have a significant impact on spermatogenesis in Slavic men. It is suggested that in Slavs, partial AZFc microdeletions b2/b3 and gr/gr are fixed in Y haplogroups N3 and R1a, respectively, and their negative impact on spermatogenesis is balanced by other genetic factors. The higher frequency of partial AZFc deletions (19.7 %) in Slavs compared to European populations (7.3 %) established in our study may be explained by the widespread distribution of these Y haplogroups in the Slavic population of Russia.</p>","PeriodicalId":44339,"journal":{"name":"Vavilovskii Zhurnal Genetiki i Selektsii","volume":"28 7","pages":"780-791"},"PeriodicalIF":0.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11668820/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142899121","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Cytogenetic features of intergeneric amphydiploids and genome-substituted forms of wheat. 小麦属间两倍体和基因组替代型的细胞遗传学特征。
IF 0.9
Vavilovskii Zhurnal Genetiki i Selektsii Pub Date : 2024-11-01 DOI: 10.18699/vjgb-24-80
E D Badaeva, R O Davoyan, N A Tereshchenko, E V Lyalina, S A Zoshchuk, N P Goncharov
{"title":"Cytogenetic features of intergeneric amphydiploids and genome-substituted forms of wheat.","authors":"E D Badaeva, R O Davoyan, N A Tereshchenko, E V Lyalina, S A Zoshchuk, N P Goncharov","doi":"10.18699/vjgb-24-80","DOIUrl":"https://doi.org/10.18699/vjgb-24-80","url":null,"abstract":"<p><p>Synthetic intergeneric amphydiploids and genome-substituted wheat forms are an important source for transferring agronomically valuable genes from wild species into the common wheat (Triticum aestivum L.) genome. They can be used both in academic research and for breeding purposes as an original material for developing wheat-alien addition and substitution lines followed by translocation induction with the aid of irradiation or nonhomologous chromosome pairing. The chromosome sets and genome constitutions of allopolyploids are usually verified in early hybrid generations, whereas the subsequent fate of these hybrids remains unknown in most cases. Here we analyze karyotypes of five hexa- (2n = 6x = 42) and octoploid (2n = 8x = 56) amphydiploids of wheat with several species of the Aegilops, Haynaldia, and Hordeum genera, and six genome-substituted wheat-Aegilops forms, which were developed over 40 years ago and have been maintained in different gene banks. The analyses involve C-banding and fluorescence in situ hybridization (FISH) with pAs1 and pSc119.2 probes. We have found that most accessions are cytologically stable except for Avrodes (genome BBAASS, a hexaploid genome-substituted hybrid of wheat and Aegilops speltoides), which segregated with respect to chromosome composition after numerous reproductions. Chromosome analysis has not confirmed the presence of the N genome from Ae. uniaristata Vis. in the genome-substituted hybrid Avrotata. Instead, Avrotata carries the D genome. Our study shows that octoploid hybrids, namely AD 7, AD 7147 undergo more complex genome reorganizations as compared to hexaploids: the chromosome number of two presumably octoploid wheat-Aegilops hybrids were reduced to the hexaploid level. Genomes of both forms lost seven chromosome pairs, which represented seven homoeologous groups and derived from different parental subgenomes. Thus, each of the resulting hexaploids carries a synthetic/hybrid genome consisting of a unique combination of chromosomes belonging to different parental subgenomes.</p>","PeriodicalId":44339,"journal":{"name":"Vavilovskii Zhurnal Genetiki i Selektsii","volume":"28 7","pages":"716-730"},"PeriodicalIF":0.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11668819/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142898999","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Molecular genetic and morphological characteristics of Micractinium thermotolerans and M. inermum (Trebouxiophyceae, Chlorophyta) from pyroclastic deposits of the Kamchatka Peninsula (Russia). 堪察加半岛火山碎屑沉积物中耐高温微钛菌和绿藻门微钛菌的分子成因及形态特征。
IF 0.9
Vavilovskii Zhurnal Genetiki i Selektsii Pub Date : 2024-11-01 DOI: 10.18699/vjgb-24-79
R Z Sushchenko, V Yu Nikulin, V B Bagmet, A Yu Nikulin
{"title":"Molecular genetic and morphological characteristics of Micractinium thermotolerans and M. inermum (Trebouxiophyceae, Chlorophyta) from pyroclastic deposits of the Kamchatka Peninsula (Russia).","authors":"R Z Sushchenko, V Yu Nikulin, V B Bagmet, A Yu Nikulin","doi":"10.18699/vjgb-24-79","DOIUrl":"https://doi.org/10.18699/vjgb-24-79","url":null,"abstract":"<p><p>During the study of algal diversity in pyroclastic deposits of the Kamchatka Peninsula, Chlorella-like green algae strains VCA-72 and VCA-93 were isolated from samples collected from along the Baydarnaya river bed on the Shiveluch volcano in 2018 and at the outlet of thermal vapors along the edge of the caldera on the southern slope of the Gorely volcano in 2020. Identification of the strains was carried out within the framework of an integrative approach using microscopic and molecular genetic methods, including preliminary taxon identification, obtaining nucleotide sequences of the small subunit and the internal transcribed spacer rRNA, reconstruction of phylogenetic trees and secondary structures of the ITS1 and ITS2 rRNA regions. On the phylogenetic tree, strain VCA-93 was clustered in the Micractinium thermotolerans species clade. No differences were found when comparing the helical domain models of ITS1 and ITS2 in M. thermotolerans. Strain VCA-72 occupied a basal position in the M. inermum clade. The secondary structure patterns of the helices of strain VCA-72 were generally similar to those of M. inermum, but intraspecific variability was noted, mainly due to substitutions in the apical and lateral loops. Five hCBC substitutions were found in the helical regions of the studied M. inermum strains, while no CBC substitutions were found. A detailed analysis of morphology and life cycle allowed us to identify the characteristics of the cells in aging cultures: their size was significantly higher than in vegetative ones and they were pear-shaped, oval, and ellipsoidal with a shallow, wide constriction in the center. In addition, cells with colorless lipid droplets were detected in aging cultures of both species. The ability to synthesize and accumulate lipids indicates the great potential of the strains for the production of biodiesel fuel. A review of the habitats of previous and new findings allowed us to note the ecological plasticity of the studied species. The results obtained complement the information on the biogeography of the species: this is the first record of M. inermum for the territory of Russia, and that of M. thermotolerans, for the Kamchatka Peninsula.</p>","PeriodicalId":44339,"journal":{"name":"Vavilovskii Zhurnal Genetiki i Selektsii","volume":"28 7","pages":"706-715"},"PeriodicalIF":0.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11667574/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142899117","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Comparative analysis of the primary structure and production of recombinant poly(ADP-ribose)polymerase 1 of long-lived Heterocephalus glaber. 长寿命光头杂头鱼原结构及重组多聚核糖(adp -核糖)聚合酶1的比较分析。
IF 0.9
Vavilovskii Zhurnal Genetiki i Selektsii Pub Date : 2024-11-01 DOI: 10.18699/vjgb-24-77
K N Naumenko, A R Nurislamov, K D Nazarov, V S Fishman, A A Popov, I O Petruseva, A N Evdokimov, O I Lavrik
{"title":"Comparative analysis of the primary structure and production of recombinant poly(ADP-ribose)polymerase 1 of long-lived Heterocephalus glaber.","authors":"K N Naumenko, A R Nurislamov, K D Nazarov, V S Fishman, A A Popov, I O Petruseva, A N Evdokimov, O I Lavrik","doi":"10.18699/vjgb-24-77","DOIUrl":"https://doi.org/10.18699/vjgb-24-77","url":null,"abstract":"<p><p>DNA repair is a most important cellular process that helps maintain the integrity of the genome and is currently considered by researchers as one of the factors determining the maximum lifespan. The central regulator of the DNA repair process is the enzyme poly(ADP-ribose)polymerase 1 (PARP1). PARP1 catalyzes the synthesis of poly(ADP-ribose) polymer (PAR) upon DNA damage using nicotinamide adenine dinucleotide (NAD+) as a substrate. This polymer covalently attaches to PARP1, which leads to its dissociation from the complex with damaged DNA and stimulation of the repair process. Despite intensive research on PARP1, its properties as an isolated protein have not been practically studied in mammals that demonstrate a long maximum lifespan, such as, for example, the naked mole rat (Heterocephalus glaber). High activity of DNA repair systems is observed in the cells of the naked mole rat, which ensures their high resistance to oxidative stress, as well as to genotoxic effects. The revealed features may be due to the high activity of PARP1 in the cells of the naked mole rat; however, this issue remains poorly understood and, thus, requires more detailed research, including one with the use of isolated protein PARP1 of the naked mole rat, the isolation and characterization of which have not been carried out before. In the present work, the amino acid sequence of PARP1 of the naked mole rat is compared with the amino acid sequences of orthologous proteins of other mammals. In contrast to human PARP1, 13 evolutionarily conservative amino acid substitutions in various functional domains of the protein have been identified in the amino acid sequence of naked mole rat PARP1. Using the cDNA of the naked mole rat's Parp1 gene, a vector was created for the expression of the target protein in Escherichia coli cell culture. For the first time, a detailed description of the procedure for the expression and purification of the recombinant protein PARP1 of the long-lived naked mole rat is presented. In addition, poly(ADP-ribose)polymerase activity of the obtained protein was evaluated. The results presented in this paper are the basis for further detailed characterization of the properties of purified recombinant naked mole rat PARP1.</p>","PeriodicalId":44339,"journal":{"name":"Vavilovskii Zhurnal Genetiki i Selektsii","volume":"28 7","pages":"688-695"},"PeriodicalIF":0.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11667573/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142898981","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Generation and characterization of two induced pluripotent stem cell lines (ICGi052-A and ICGi052-B) from a patient with frontotemporal dementia with parkinsonism-17 associated with the pathological variant c.2013T>G in the MAPT gene. 两种诱导多能干细胞系(ICGi052-A和ICGi052-B)的产生和表征来自于与MAPT基因c.2013T>G病理变异相关的额颞叶痴呆伴帕金森-17患者。
IF 0.9
Vavilovskii Zhurnal Genetiki i Selektsii Pub Date : 2024-11-01 DOI: 10.18699/vjgb-24-76
E V Grigor'eva, A A Malakhova, E S Yarkova, J M Minina, Y V Vyatkin, J A Nadtochy, E A Khabarova, J A Rzaev, S P Medvedev, S M Zakian
{"title":"Generation and characterization of two induced pluripotent stem cell lines (ICGi052-A and ICGi052-B) from a patient with frontotemporal dementia with parkinsonism-17 associated with the pathological variant c.2013T>G in the MAPT gene.","authors":"E V Grigor'eva, A A Malakhova, E S Yarkova, J M Minina, Y V Vyatkin, J A Nadtochy, E A Khabarova, J A Rzaev, S P Medvedev, S M Zakian","doi":"10.18699/vjgb-24-76","DOIUrl":"https://doi.org/10.18699/vjgb-24-76","url":null,"abstract":"<p><p>Frontotemporal dementia with parkinsonism-17 is a neurodegenerative disease characterised by pathological aggregation of the tau protein with the formation of neurofibrillary tangles and subsequent neuronal death. The inherited form of frontotemporal dementia can be caused by mutations in several genes, including the MAPT gene on chromosome 17, which encodes the tau protein. As there are currently no medically approved treatments for frontotemporal dementia, there is an urgent need for research using in vitro cell models to understand the molecular genetic mechanisms that lead to the development of the disease, to identify targets for therapeutic intervention and to test potential drugs to prevent neuronal death. Analysis of exome sequencing data from a 46-year-old patient with a clinical diagnosis of Parkinson's disease revealed the presence of the pathological variant c.2013T>G (rs63750756) in the MAPT gene, which is associated with frontotemporal dementia with parkinsonism-17. By reprogramming the patient's peripheral blood mononuclear cells, we obtained induced pluripotent stem cells (iPSCs). Two iPSC lines were characterised in detail. Reprogramming was performed by transfection with non-integrating episomal vectors expressing the OCT4, SOX2, KLF4, LIN28, L-MYC and mp53DD proteins. The iPSC lines ICGi052-A and ICGi052-B proliferate stably, form colonies with a morphology characteristic of human pluripotent cells, have a normal diploid karyotype (46,XX), express endogenous alkaline phosphatase and pluripotency markers (OCT4, NANOG, SSEA-4 and TRA-1-60) and are able to differentiate into derivatives of three germ layers: ento-, ecto- and mesoderm. The iPSC lines obtained and characterised in detail in this work represent a unique tool for studying the molecular genetic mechanisms of the pathogenesis of frontotemporal dementia with parkinsonism-17, as well as for testing potential drugs in vitro.</p>","PeriodicalId":44339,"journal":{"name":"Vavilovskii Zhurnal Genetiki i Selektsii","volume":"28 7","pages":"679-687"},"PeriodicalIF":0.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11668817/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142899115","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Polymorphic variants of the genes for enzymes of the antioxidant system, apoptosis and inflammation as potential predictors of myocardial infarction. 抗氧化系统、细胞凋亡和炎症酶基因的多态性变异作为心肌梗死的潜在预测因子。
IF 0.9
Vavilovskii Zhurnal Genetiki i Selektsii Pub Date : 2024-11-01 DOI: 10.18699/vjgb-24-87
T R Nasibullin, V V Erdman, Y R Timasheva, I A Tuktarova, A A Petinseva, G F Korytina
{"title":"Polymorphic variants of the genes for enzymes of the antioxidant system, apoptosis and inflammation as potential predictors of myocardial infarction.","authors":"T R Nasibullin, V V Erdman, Y R Timasheva, I A Tuktarova, A A Petinseva, G F Korytina","doi":"10.18699/vjgb-24-87","DOIUrl":"https://doi.org/10.18699/vjgb-24-87","url":null,"abstract":"<p><p>Myocardial infarction (MI) is a multifactorial polygenic disease that develops as a result of a complex interaction of numerous genetic factors and the external environment. Accordingly, the contribution of each of them separately is usually not large and may significantly depend on the state of other accompanying factors. The purpose of the study was to search for informative predictors of MI risk based on polygenic analysis of polymorphic variants of (1) the antioxidant defense enzyme genes PON1 (rs662), PON2 (rs7493), CAT (rs1001179), MSRA (rs10098474) and GSTP1 (rs1695); (2) the apoptosis genes CASP8 (rs3834129), TP53 (rs1042522) and BCL2 (rs12454712); and (3) the inflammation genes CRP (rs1205), CX3CR1 (rs3732378), IL6 (rs1800795) and CCL2 (rs1024611). 591 DNA samples were used in the study (280 patients with the onset at 30 to 60 years, with an average age of 46.02 ± 6.17, and 311 control subjects aged 30 to 62, with an average age of 44.65 ± 7.07). All the participants were male and Tatars by ethnicity. The logistic regression analysis with various models demonstrated associations with MI of polymorphic variants of the genes CX3CR1 (rs3732378) (overdominant model - G/G + A/A vs A/G P = 0.0002, OR = 1.9), MSRA (rs10098474) (dominant model - T/T vs T/C + C/C P = 0.015, OR = 1.51), CCL2 (rs1024611) (recessive model - P = 0.0007 - A/A + A/G vs G/G OR = 2.63), BCL2 (rs12454712) (log-additive model - *C allele, P = 0.005, OR = 1.38). Using the Monte Carlo method and Markov chains (APSampler), combinations of alleles/genotypes of the studied polymorphic loci associated with a high risk of MI were obtained, which, in addition to those identified during single-locus analysis, contained polymorphic variants of the genes CASP8, TP53, CAT, PON2, CRP, IL6, GSTP1. Among the combinations obtained, a pairwise analysis of possible non-linear interactions between the identified combinations of alleles/genotypes was carried out, which showed synergistic interactions of the polymorphic variants CX3CR1*A/G and CASP8*I/I, MSRA*C and CRP*C, CAT*C/T and MSRA*C, CAT*C/T and CX3CR1*A contributing to the development of MI. Based on the results obtained using multivariate logistic regression analysis, a predictive model was built to assess the risk of developing MI, the predictive ability of which reached the value AUC = 0.71 (AUC - area under the curve in ROC analysis).</p>","PeriodicalId":44339,"journal":{"name":"Vavilovskii Zhurnal Genetiki i Selektsii","volume":"28 7","pages":"792-800"},"PeriodicalIF":0.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11667575/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142899119","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Substantia nigra alterations in mice modeling Parkinson's disease. 帕金森病模型小鼠黑质改变
IF 0.9
Vavilovskii Zhurnal Genetiki i Selektsii Pub Date : 2024-11-01 DOI: 10.18699/vjgb-24-82
I N Rozhkova, S V Okotrub, E Yu Brusentsev, T A Rakhmanova, D A Lebedeva, V S Kozeneva, N A Shavshaeva, N V Khotskin, S Ya Amstislavsky
{"title":"Substantia nigra alterations in mice modeling Parkinson's disease.","authors":"I N Rozhkova, S V Okotrub, E Yu Brusentsev, T A Rakhmanova, D A Lebedeva, V S Kozeneva, N A Shavshaeva, N V Khotskin, S Ya Amstislavsky","doi":"10.18699/vjgb-24-82","DOIUrl":"https://doi.org/10.18699/vjgb-24-82","url":null,"abstract":"<p><p>Parkinson's disease (PD) is an age-related neurodegenerative pathology of the central nervous system. The well-known abnormalities characteristic of PD are dysfunctions in the nigrostriatal system including the substantia nigra of the midbrain and the striatum. Moreover, in PD persons, alpha-synucleinopathy is associated with abnormalities in the dopaminergic brain system. To study the mechanisms of this pathology, genetic models in mice have been designed. Transgenic mice of the B6.Cg-Tg(Prnp-SNCA*A53T)23Mkle/J strain (referred to as B6.Cg-Tg further in the text) possess the A53T mutation in the human alpha-synuclein SNCA gene. The density of neurons in the prefrontal cortex, hippocampus, substantia nigra and striatum in B6.Cg-Tg mice was assessed in our previous work, but the dopaminergic system was not studied there, although it plays a key role in the development of PD. The aim of the current study was to investigate motor coordination and body balance, as well as dopaminergic neuronal density and alpha-synuclein accumulation in the substantia nigra in male B6.Cg-Tg mice at the age of six months. Wild-type mice of the same sex and age, siblings of the B6.Cg-Tg mice from the same litters, lacking the SNCA gene with the A53T mutation, but expressing murine alpha-synuclein, were used as controls (referred to as the wild type further in the text). Motor coordination and body balance were assessed with the rota-rod test; the density of dopaminergic neurons and accumulation of alpha-synuclein in the substantia nigra were evaluated by the immunohistochemical method. There was no difference between B6.Cg-Tg mice and WT siblings in motor coordination and body balance. However, accumulation of alpha-synuclein and a decrease in the number of dopaminergic neurons in the substantia nigra were found in the B6.Cg-Tg mouse strain. Thus, the mice of the B6.Cg-Tg strain at the age of six months have some symptoms of the onset of PD, such as the accumulation of mutant alpha-synuclein and a decrease in the number of dopaminergic neurons in the substantia nigra. Taken together, the results obtained in our work qualify the B6.Cg-Tg strain as a pertinent model for studying the early stage of human PD already at the age of six months.</p>","PeriodicalId":44339,"journal":{"name":"Vavilovskii Zhurnal Genetiki i Selektsii","volume":"28 7","pages":"744-751"},"PeriodicalIF":0.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11668818/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142899125","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The concept of natural genome reconstruction.Part 1. Basic provisions of the "natural genome reconstruction" concept. Changing the genome of hematopoietic stem cells using several natural cellular mechanisms that are inherent in the hematopoietic cell and determine its biological status as "the source of the body's reparative potential". 自然基因组重建的概念。第1部分。基本规定了“自然基因组重建”的概念。利用造血细胞固有的几种自然细胞机制改变造血干细胞的基因组,并决定其作为“机体修复潜能来源”的生物学地位。
IF 0.9
Vavilovskii Zhurnal Genetiki i Selektsii Pub Date : 2024-11-01 DOI: 10.18699/vjgb-24-78
L A Yakubov, O S Taranov, S V Sidorov, S D Nikonov, A A Ostanin, E R Chernykh, N A Kolchanov, S S Bogachev
{"title":"The concept of natural genome reconstruction.Part 1. Basic provisions of the \"natural genome reconstruction\" concept. Changing the genome of hematopoietic stem cells using several natural cellular mechanisms that are inherent in the hematopoietic cell and determine its biological status as \"the source of the body's reparative potential\".","authors":"L A Yakubov, O S Taranov, S V Sidorov, S D Nikonov, A A Ostanin, E R Chernykh, N A Kolchanov, S S Bogachev","doi":"10.18699/vjgb-24-78","DOIUrl":"https://doi.org/10.18699/vjgb-24-78","url":null,"abstract":"<p><p>We present a series of articles proving the existence of a previously unknown mechanism of interaction between hematopoietic stem cells and extracellular double-stranded DNA (and, in particular, double-stranded DNA of the peripheral bloodstream), which explains the possibility of emergence and fixation of genetic information contained in double-stranded DNA of extracellular origin in hematopoietic stem cells. The concept of the possibility of stochastic or targeted changes in the genome of hematopoietic stem cells is formulated based on the discovery of new, previously unknown biological properties of poorly differentiated hematopoietic precursors. The main provisions of the concept are as follows. The hematopoietic stem cell takes up and internalizes fragments of extracellular double-stranded DNA via a natural mechanism. Specific groups of glycocalyx factors, including glycoproteins/proteoglycans, glycosylphosphatidylinositol-anchored proteins and scavenger receptors, take part in the internalization event. The binding sites for DNA fragments are heparin-binding domains and clusters of positively charged amino acid residues that are parts of protein molecules of these factors. Extracellular fragments delivered to the internal compartments of hematopoietic stem cells initiate terminal differentiation, colony formation, and proliferation of hematopoietic precursors. The molecular manifestation of these processes is the emergence and repair of pangenomic single-strand breaks. The occurrence of pangenomic single-strand breaks and restoration of genome (genomic DNA) integrity are associated with activation of a \"recombinogenic situation\" in the cell; during its active phase, stochastic homologous recombination or other recombination events between extracellular fragments localized in the nucleus and chromosomal DNA are possible. As a result, genetic material of initially extracellular localization either integrates into the recipient genome with the replacement of homologous chromosomal segments, or is transitively present in the nucleus and can manifest itself as a new genetic trait. It is assumed that as a result of stochastic acts of homologous exchange, chromosome loci are corrected in hematopoietic stem cells that have acquired mutations during the existence of the organism, which are the cause of clonal hematopoiesis associated with old age. In this regard, there is a fundamental possibility of changing the hematopoietic status of hematopoietic stem cells in the direction of polyclonality and the original diversity of clones. Such events can form the basis for the rejuvenation of the blood-forming cell system. The results of the laboratory's work indicate that other stem cells in the body capture extracellular DNA fragments too. This fact creates a paradigm for the overall rejuvenation of the body.</p>","PeriodicalId":44339,"journal":{"name":"Vavilovskii Zhurnal Genetiki i Selektsii","volume":"28 7","pages":"696-705"},"PeriodicalIF":0.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11667570/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142899129","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The potential of the amaranth collection maintained at VIR in the context of global plant breeding and utilization trends. 在全球植物育种和利用趋势的背景下,VIR保持苋菜收藏的潜力。
IF 0.9
Vavilovskii Zhurnal Genetiki i Selektsii Pub Date : 2024-11-01 DOI: 10.18699/vjgb-24-81
D V Sokolova, A E Solovieva, A M Zaretsky, T V Shelenga
{"title":"The potential of the amaranth collection maintained at VIR in the context of global plant breeding and utilization trends.","authors":"D V Sokolova, A E Solovieva, A M Zaretsky, T V Shelenga","doi":"10.18699/vjgb-24-81","DOIUrl":"https://doi.org/10.18699/vjgb-24-81","url":null,"abstract":"<p><p>Amaranth is an ancient crop of the family Amaranthaceae, but it is fairly new to Russia. Its seeds and leaf biomass contain a high-quality gluten-free protein, fatty acids, squalene (a polyunsaturated hydrocarbon), flavonoids, vitamins, and minerals. A comprehensive study of amaranth, enhancement of its breeding, and development of new cultivars will contribute to food quality improvement through the use of plant raw materials enriched for wholesome and highly nutritious components. At present, selection and hybridization still remain the main amaranth breeding techniques. Meanwhile, mutation breeding and polyploidy have been successfully employed to increase its seed yield and protein content. The genes encoding amaranth proteins have been used to produce transgenic plants of potato, bread wheat, and maize. Despite the great potential of amaranth, little research has been dedicated to the study of its genomics, concentrating mainly on the identification of its species diversity. Targets of breeding practice for amaranth include such characteristics as large size and nonshattering of seeds, short stem, earliness, high yield, cold hardiness, synchronized maturation, resistance to pests and diseases, and high nutritional value, including the content and quality of protein, lipids, squalene, and bioactive compounds. A unique collection of amaranth maintained at the N.I. Vavilov All-Russian Institute of Plant Genetic Resources (VIR) currently incorporates 570 accessions from various countries. For 70 years it has been replenished with local varieties, commercial cultivars, and wild species supplied by collecting missions, research centers, botanical gardens, genebanks, and experimental breeding stations from all over the world. Long-standing studies have resulted in the formation of trait-specific groups of accessions, with high yields of seeds and leaf biomass, earliness, cold hardiness, high protein content in seeds and biomass, short stems, and resistance to seed shattering, earmarked for vegetable or ornamental purposes. The gene pool of amaranth preserved at VIR can provide unlimited opportunities for breeding and meet the needs of the country's population, enriching the human diet with ingredients produced from such a health-friendly and useful crop.</p>","PeriodicalId":44339,"journal":{"name":"Vavilovskii Zhurnal Genetiki i Selektsii","volume":"28 7","pages":"731-743"},"PeriodicalIF":0.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11667576/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142899137","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Spatial genetic characterization of the red fox (Vulpes vulpes) in the area between the Alps and the Central Dinaric Mountains. 阿尔卑斯山脉与中央迪纳尔山脉之间地区红狐的空间遗传特征。
IF 0.9
Vavilovskii Zhurnal Genetiki i Selektsii Pub Date : 2024-11-01 DOI: 10.18699/vjgb-24-83
A Devedžić, F Urzi, B Pokorny, G Vengušt, D Ž Vengušt, F Janžekovič, L Velić, T Eterović, B K Stroil, E Bužan
{"title":"Spatial genetic characterization of the red fox (Vulpes vulpes) in the area between the Alps and the Central Dinaric Mountains.","authors":"A Devedžić, F Urzi, B Pokorny, G Vengušt, D Ž Vengušt, F Janžekovič, L Velić, T Eterović, B K Stroil, E Bužan","doi":"10.18699/vjgb-24-83","DOIUrl":"https://doi.org/10.18699/vjgb-24-83","url":null,"abstract":"<p><p>Red fox, Vulpes vulpes, is a globally distributed species characterized by its high adaptability to diverse habitats and a broad range of food resources. This remarkable adaptability has allowed the red fox to thrive in various environments, from urban areas to remote wilderness. In this study, we used a set of microsatellite markers for the comparative genetic analysis of red fox populations from two countries. We included populations from the Eastern Alps and the northern Dinaric Mountains in Slovenia, as well as the Central Dinaric Mountains in Bosnia and Herzegovina. We successfully isolated DNA and genotyped 118 red fox samples. Our analyses, which included Bayesian clustering techniques, revealed a weak genetic differentiation among the studied populations. However, it is noteworthy that statistically significant differences in estimates of genetic differentiation were only apparent when comparing the populations between the two countries. Further spatial genetic clustering analyses provided additional insights, unveiling a differentiation into four genetic clusters. These clusters comprised two distinct groups in Bosnia and Herzegovina and two in Slovenia. This pattern of differentiation suggests that isolation by distance is a key factor influencing the genetic structure of the red fox in this studied region. Additionally, our findings highlighted that populations from the Alps and northern Dinaric Mountains exhibit higher genetic diversity and observed heterozygosity compared to their counterparts in the Central Dinaric Mountains. The genetic diversity is also notable when compared to other European red fox populations. Studying genetic diversity is crucial for the resilience and adaptability of populations, ensuring their survival amid environmental changes and human-induced pressures.</p>","PeriodicalId":44339,"journal":{"name":"Vavilovskii Zhurnal Genetiki i Selektsii","volume":"28 7","pages":"752-758"},"PeriodicalIF":0.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11668821/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142899124","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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