Pub Date : 2024-03-11DOI: 10.1134/s1022795424020091
B. A. Malyarchuk, M. V. Derenko, G. A. Denisova, A. N. Litvinov, I. K. Dambueva
Abstract
The polymorphism of the rs174570, rs74771917, and rs7115739 loci of the FADS gene in Siberian populations was studied. It was shown that the frequency of the rs174570-T variant marking haplotype A with a reduced level of fatty acid desaturase expression in the modern indigenous populations increases in the direction from the south to the north of Siberia. Similarly, an increase in the frequency of the TTT haplotype at the rs174570, rs74771917, and rs7115739 loci was observed in the northern direction. However, in ancient times, the populations of Eastern Siberia (its northeastern part, Baikal region, and Primorye) were characterized by an equally high frequency of the rs174570-T variant (over 80%). It was shown that the main influx of the rs174570-C allele (and the CCG haplotype) to northeast Siberia occurred relatively recently, over the past 300 years, as a result of mating contacts between indigenous populations and immigrant groups of predominantly eastern European origin. The gene flow intensity (for the rs174570-C allele) is estimated to be 1.5–4.4% per generation. The appearance of the rs174570-C variant in the population of the Baikal region has been registered since the Eneolithic epoch, which is apparently associated mainly with the advance of the Afanasievo culture tribes to the east of Siberia. Meanwhile, analysis of paleogenomic data showed that the TTT haplotype, with high frequency distributed in modern Eskimos and Amerindians, was present in the Upper Paleolithic population of the Amur region, and therefore its carriers apparently took part in the formation of the ancient Beringian population.
{"title":"FADS Gene Polymorphism and the History of the Formation of the Indigenous Populations of Siberia","authors":"B. A. Malyarchuk, M. V. Derenko, G. A. Denisova, A. N. Litvinov, I. K. Dambueva","doi":"10.1134/s1022795424020091","DOIUrl":"https://doi.org/10.1134/s1022795424020091","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>The polymorphism of the rs174570, rs74771917, and rs7115739 loci of the <i>FADS</i> gene in Siberian populations was studied. It was shown that the frequency of the rs174570-<i>T</i> variant marking haplotype A with a reduced level of fatty acid desaturase expression in the modern indigenous populations increases in the direction from the south to the north of Siberia. Similarly, an increase in the frequency of the TTT haplotype at the rs174570, rs74771917, and rs7115739 loci was observed in the northern direction. However, in ancient times, the populations of Eastern Siberia (its northeastern part, Baikal region, and Primorye) were characterized by an equally high frequency of the rs174570-<i>T</i> variant (over 80%). It was shown that the main influx of the rs174570-<i>C</i> allele (and the CCG haplotype) to northeast Siberia occurred relatively recently, over the past 300 years, as a result of mating contacts between indigenous populations and immigrant groups of predominantly eastern European origin. The gene flow intensity (for the rs174570-<i>C</i> allele) is estimated to be 1.5–4.4% per generation. The appearance of the rs174570-<i>C</i> variant in the population of the Baikal region has been registered since the Eneolithic epoch, which is apparently associated mainly with the advance of the Afanasievo culture tribes to the east of Siberia. Meanwhile, analysis of paleogenomic data showed that the TTT haplotype, with high frequency distributed in modern Eskimos and Amerindians, was present in the Upper Paleolithic population of the Amur region, and therefore its carriers apparently took part in the formation of the ancient Beringian population.</p>","PeriodicalId":21441,"journal":{"name":"Russian Journal of Genetics","volume":"48 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140098416","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-11DOI: 10.1134/s1022795424020029
A. N. Bulanov, A. V. Voylokov
Abstract
The majority of cultivated cereals including maize, rice, wheat, barley, oat and rye consist of numerous varieties lacking anthocyanin pigmentation or having weak coloration of vegetative organs and/or caryopses. Only rare local races and wild related species have intense coloration of plants and/or grains. The coloration of caryopses is associated with the biosynthesis of colored flavonoids in maternal (pericarp and testa) and hybrid (aleurone) caryopsis tissues. The trait is controlled by dominant alleles of regulatory genes encoding conserved transcription factors of the MYB, bHLH-MYC, and WD40 families forming the MBW protein complex. Recent studies have proven the participation of uncolored and colored flavonoids in the response of plants to biotic and abiotic stresses, and the significance of their presence in the whole grain foods has been determined. However, many questions about the adaptive effects and health benefits of anthocyanins remain unanswered. In particular, the reasons why the dominant alleles of regulatory genes controlling pericarp coloration did not become widespread in the course of domestication and breeding of cereals are not clear, although these genes receive special attention in association with health-improving effects of grain nutrition. This article discusses the similarity and specificity of the genetic control of the biosynthesis of flavonoids in the caryopsis in three related cultivated cereals, wheat, barley, and rye, and their biological role in the development of the caryopsis and seed germination.
{"title":"Adaptive Significance and Origin of Flavonoid Biosynthesis Genes in the Grain of Cultivated Cereals","authors":"A. N. Bulanov, A. V. Voylokov","doi":"10.1134/s1022795424020029","DOIUrl":"https://doi.org/10.1134/s1022795424020029","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>The majority of cultivated cereals including maize, rice, wheat, barley, oat and rye consist of numerous varieties lacking anthocyanin pigmentation or having weak coloration of vegetative organs and/or caryopses. Only rare local races and wild related species have intense coloration of plants and/or grains. The coloration of caryopses is associated with the biosynthesis of colored flavonoids in maternal (pericarp and testa) and hybrid (aleurone) caryopsis tissues. The trait is controlled by dominant alleles of regulatory genes encoding conserved transcription factors of the MYB, bHLH-MYC, and WD40 families forming the MBW protein complex. Recent studies have proven the participation of uncolored and colored flavonoids in the response of plants to biotic and abiotic stresses, and the significance of their presence in the whole grain foods has been determined. However, many questions about the adaptive effects and health benefits of anthocyanins remain unanswered. In particular, the reasons why the dominant alleles of regulatory genes controlling pericarp coloration did not become widespread in the course of domestication and breeding of cereals are not clear, although these genes receive special attention in association with health-improving effects of grain nutrition. This article discusses the similarity and specificity of the genetic control of the biosynthesis of flavonoids in the caryopsis in three related cultivated cereals, wheat, barley, and rye, and their biological role in the development of the caryopsis and seed germination.</p>","PeriodicalId":21441,"journal":{"name":"Russian Journal of Genetics","volume":"40 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140098208","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-11DOI: 10.1134/s1022795424020030
A. E. Gareeva
Abstract
It is now known that schizophrenia is a multifactorial disease in which both genetic and environmental factors play a role. In recent years, mainly through the use of genome-wide association studies (GWAS), many molecular genetic processes that increase susceptibility to schizophrenia have been identified. The objective of this study was to examine genetic factors associated with the risk of developing schizophrenia by conducting a genome-wide association study (GWAS) in Bashkirs from the Republic of Bashkortostan. The studied sample consisted of 139 patients with paranoid schizophrenia and 204 healthy individuals. Genome-wide genotyping of DNA samples was carried using a PsychChip biochip, which included 610000 single nucleotide polymorphisms (SNPs).
{"title":"Searching for Ethnospecific Risk Markers of Paranoid Schizophrenia in Bashkirs Based on the Results from Genome-Wide Association Study","authors":"A. E. Gareeva","doi":"10.1134/s1022795424020030","DOIUrl":"https://doi.org/10.1134/s1022795424020030","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>It is now known that schizophrenia is a multifactorial disease in which both genetic and environmental factors play a role. In recent years, mainly through the use of genome-wide association studies (GWAS), many molecular genetic processes that increase susceptibility to schizophrenia have been identified. The objective of this study was to examine genetic factors associated with the risk of developing schizophrenia by conducting a genome-wide association study (GWAS) in Bashkirs from the Republic of Bashkortostan. The studied sample consisted of 139 patients with paranoid schizophrenia and 204 healthy individuals. Genome-wide genotyping of DNA samples was carried using a PsychChip biochip, which included 610000 single nucleotide polymorphisms (SNPs).</p>","PeriodicalId":21441,"journal":{"name":"Russian Journal of Genetics","volume":"60 3 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140098414","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-11DOI: 10.1134/s102279542402008x
G. I. Korovaitseva, I. V. Oleichik, T. V. Lezheiko, V. E. Golimbet
Abstract
The MIR137 gene encodes microRNA-137 (miR-137), which is a brain-enriched miR that is highly expressed in various brain regions. miR-137 has been identified as a modulator of processes involved in the pathogenesis of neuropsychiatric disorders. Functional polymorphism of variable number of tandem repeats (VNTR) rs58335419 was found in the regulatory region of the MIR137 gene. It is associated with a change in the expression of miR-137 and, as a result, with an increased risk of developing psychopathologies, including schizophrenia. In this study, we for the first time have analyzed the distribution of frequencies of alleles and genotypes of MIR137 VNTR in a large sample from the Russian population. The association of VNTR with the risk of schizophrenia has been studied. It was found that the presence of VNTR alleles with more than three repeats, as well as a genotype homozygous for such alleles, is associated with an increased risk of developing schizophrenia (OR = 1.4, 95% CI: 1.01–1.95).
{"title":"A Study of Association of the MIR137 VNTR rs58335419 with Schizophrenia","authors":"G. I. Korovaitseva, I. V. Oleichik, T. V. Lezheiko, V. E. Golimbet","doi":"10.1134/s102279542402008x","DOIUrl":"https://doi.org/10.1134/s102279542402008x","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>The <i>MIR137</i> gene encodes microRNA-137 (miR-137), which is a brain-enriched miR that is highly expressed in various brain regions. miR-137 has been identified as a modulator of processes involved in the pathogenesis of neuropsychiatric disorders. Functional polymorphism of variable number of tandem repeats (VNTR) rs58335419 was found in the regulatory region of the <i>MIR137</i> gene. It is associated with a change in the expression of miR-137 and, as a result, with an increased risk of developing psychopathologies, including schizophrenia. In this study, we for the first time have analyzed the distribution of frequencies of alleles and genotypes of <i>MIR137</i> VNTR in a large sample from the Russian population. The association of VNTR with the risk of schizophrenia has been studied. It was found that the presence of VNTR alleles with more than three repeats, as well as a genotype homozygous for such alleles, is associated with an increased risk of developing schizophrenia (OR = 1.4, 95% CI: 1.01–1.95).</p>","PeriodicalId":21441,"journal":{"name":"Russian Journal of Genetics","volume":"11 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140098423","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-11DOI: 10.1134/s102279542402011x
N. V. Petrova, A. V. Marakhonov, N. V. Balinova, T. A. Vasilyeva, G. I. El’chinova, E. K. Ginter, R. A. Zinchenko
Abstract
The genetic structure of Karachay population has been studied on the basis of analysis of ten autosomal DNA markers (diallelic and multiallelic) of the nuclear genome: CCR5∆32, ID/АСЕ, D7S23(KM19), STR/THOI, STR/FABP2, STR/IVS6aGATT(CFTR), VNTR/PAH, VNTR/DAT1, VNTR/NOS3, VNTR/APOB. The total number of the sample comprises 485 individuals who are residents of four Karachay regions: Karachaevsky, Prikubansky, Malokarachayevsky, Ust-Dzhegutinsky, and the city of Cherkessk, the capital of the Karachay-Cherkess Republic. Analysis of allele’s frequency of autosomal DNA markers in Karachay geographic subgroups shows considerable genetic differentiation between them. The highest level of genetic diversity for Karachay people on the diallelic system is set at the locus ID/АСЕ, Hobs = 0.513, and on the multiallelic system is at the locus STR/THOI, Hobs = 0.792. The average value of the observed heterozygosity per locus is 0.466, varying from 0.441 in Ust-Dzhegutinsky region to 0.503 in Cherkessk. The level of genetic differences between Karachay groups (FST = 0.007) is inside the variance defined in the previously studied peoples: Mari (FST = 0.0024), Udmurt (FST = 0.0048), Chuvash (FST = 0.006), Tatars (FST = 0.0075), and Bashkir (FST = 0.008).
{"title":"Study of the Karachay Population Based on the Analysis of Ten Polymorphic DNA Loci","authors":"N. V. Petrova, A. V. Marakhonov, N. V. Balinova, T. A. Vasilyeva, G. I. El’chinova, E. K. Ginter, R. A. Zinchenko","doi":"10.1134/s102279542402011x","DOIUrl":"https://doi.org/10.1134/s102279542402011x","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>The genetic structure of Karachay population has been studied on the basis of analysis of ten autosomal DNA markers (diallelic and multiallelic) of the nuclear genome: <i>CCR5</i>∆<i>32</i>, <i>ID</i>/<i>АСЕ</i>, <i>D7S23</i>(<i>KM19</i>), <i>STR</i>/<i>THOI</i>, <i>STR</i>/<i>FABP2</i>, <i>STR</i>/<i>IVS6aGATT</i>(<i>CFTR</i>), <i>VNTR</i>/<i>PAH</i>, <i>VNTR</i>/<i>DAT1</i>, <i>VNTR</i>/<i>NOS3</i>, <i>VNTR/APOB</i>. The total number of the sample comprises 485 individuals who are residents of four Karachay regions: Karachaevsky, Prikubansky, Malokarachayevsky, Ust-Dzhegutinsky, and the city of Cherkessk, the capital of the Karachay-Cherkess Republic. Analysis of allele’s frequency of autosomal DNA markers in Karachay geographic subgroups shows considerable genetic differentiation between them. The highest level of genetic diversity for Karachay people on the diallelic system is set at the locus <i>ID</i>/<i>АСЕ</i>, <i>H</i><sub>obs</sub> = 0.513, and on the multiallelic system is at the locus <i>STR</i>/<i>THOI</i>, <i>H</i><sub>obs</sub> = 0.792. The average value of the observed heterozygosity per locus is 0.466, varying from 0.441 in Ust-Dzhegutinsky region to 0.503 in Cherkessk. The level of genetic differences between Karachay groups (<i>F</i><sub>ST</sub> = 0.007) is inside the variance defined in the previously studied peoples: Mari (<i>F</i><sub>ST</sub> = 0.0024), Udmurt (<i>F</i><sub>ST</sub> = 0.0048), Chuvash (<i>F</i><sub>ST</sub> = 0.006), Tatars (<i>F</i><sub>ST</sub> = 0.0075), and Bashkir (<i>F</i><sub>ST</sub> = 0.008).</p>","PeriodicalId":21441,"journal":{"name":"Russian Journal of Genetics","volume":"127 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140098209","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-11DOI: 10.1134/s1022795424020042
M. Hao, X. Zhang, Z. Li, S. Li, C. Li
Abstract
Gelsolin (GSN) is an important actin-binding protein. The current studyidentified the potential role of GSN in Gastric cancer (GC) tumorigenesis and prognosis using bioinformatic analysis. The TCGA, GTEx, and GEO databases were used to gain clinicopathological data on GC patients. Expression of GSN across cancers was evaluated. Kaplan–Meier analyses were conducted to evaluatethe prognostic value of GSN, while the association between GSN expression and clinical characteristics in gastric carcinoma was evaluated using the UALCAN database. The potential diagnostic value of GSN was assessed by the construction of ROC curves. The putative underlying cellular mechanisms were investigated by GO and KEGG pathway enrichment analyses. The GSN mRNA was validated by RT-qPCR. GSN mRNA and protein expression were lower in gastric carcinoma tissue than in noncancerous tissue. GO and KEGG enrichment analyses revealed that GSN plays a key regulatory role in actin binding and capping and thec-erbB/EGFR and PI3K/Akt signaling pathways. GSN has a high diagnostic significance, and low GSN expression is associated with shorter overall survival (OS) in gastric carcinoma. GSN expression was a risk factor for the progression-free interval in patients with gastric carcinoma. We observed that the OS rate of patients with higher GSN expression levels was longer, and GSN had significant predictive value for the clinical outcome of GC. GSN expression is involved in the tumorigenesis of gastric carcinoma progression and may regard as a putative diagnostic and prognostic biomarker for gastric carcinoma.
{"title":"Identification of Low Expression of GSN as a Key Prognosis Gene in Patients with Gastric Carcinoma","authors":"M. Hao, X. Zhang, Z. Li, S. Li, C. Li","doi":"10.1134/s1022795424020042","DOIUrl":"https://doi.org/10.1134/s1022795424020042","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>Gelsolin (GSN) is an important actin-binding protein. The current studyidentified the potential role of GSN in Gastric cancer (GC) tumorigenesis and prognosis using bioinformatic analysis. The TCGA, GTEx, and GEO databases were used to gain clinicopathological data on GC patients. Expression of GSN across cancers was evaluated. Kaplan–Meier analyses were conducted to evaluatethe prognostic value of GSN, while the association between GSN expression and clinical characteristics in gastric carcinoma was evaluated using the UALCAN database. The potential diagnostic value of GSN was assessed by the construction of ROC curves. The putative underlying cellular mechanisms were investigated by GO and KEGG pathway enrichment analyses. The GSN mRNA was validated by RT-qPCR. GSN mRNA and protein expression were lower in gastric carcinoma tissue than in noncancerous tissue. GO and KEGG enrichment analyses revealed that GSN plays a key regulatory role in actin binding and capping and thec-erbB/EGFR and PI3K/Akt signaling pathways. GSN has a high diagnostic significance, and low GSN expression is associated with shorter overall survival (OS) in gastric carcinoma. GSN expression was a risk factor for the progression-free interval in patients with gastric carcinoma. We observed that the OS rate of patients with higher GSN expression levels was longer, and GSN had significant predictive value for the clinical outcome of GC. GSN expression is involved in the tumorigenesis of gastric carcinoma progression and may regard as a putative diagnostic and prognostic biomarker for gastric carcinoma.</p>","PeriodicalId":21441,"journal":{"name":"Russian Journal of Genetics","volume":"68 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140098331","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-11DOI: 10.1134/s1022795424020133
E. V. Vinogradov, V. V. Karavaev, D. A. Balashov, V. N. Dement’ev, V. M. Simonov, L. A. Shart, E. Yu. Zhurenkova
Abstract
Previously, numerous studies have shown a broad pleiotropic effect of the dominant allele of the gene N of scaly cover. Carriers of this allele are inferior to recessive nn homozygotes in terms of growth rate and viability and also differ in a number of physiological and meristic traits. In the present work, a case of the absence of pleiotropy was found: when scaleless females (ssNn) and males with scattered scale cover (ssnn) were crossed, naked and scattered offspring did not differ in growth rate, viability, and hematological parameters. The pleiotropic effect of the N gene was preserved only in terms of meristic traits. The absence of a negative effect of the N gene on productivity traits opens up the possibility of using naked carps in aquaculture.
摘要 以前的许多研究表明，鳞片覆盖基因 N 的显性等位基因具有广泛的多效应。该等位基因的携带者在生长速度和存活率方面均逊于隐性 nn 等位基因，而且在许多生理和分化性状方面也存在差异。在本研究中，我们发现了一个没有褶效应的案例：当无鳞雌性（ssNn）和有散生鳞片覆盖的雄性（ssnn）杂交时，裸体和散生鳞片覆盖的后代在生长速度、存活率和血液学参数上没有差异。N 基因的多向效应仅在分化性状方面得以保留。N 基因对生产力性状没有负面影响，这为在水产养殖中使用裸鲤提供了可能。
{"title":"On the Disappearance of the Pleiotropic Effect of the N Gene of the Scale Cover in Carp (Сyprinus carpio L.)","authors":"E. V. Vinogradov, V. V. Karavaev, D. A. Balashov, V. N. Dement’ev, V. M. Simonov, L. A. Shart, E. Yu. Zhurenkova","doi":"10.1134/s1022795424020133","DOIUrl":"https://doi.org/10.1134/s1022795424020133","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>Previously, numerous studies have shown a broad pleiotropic effect of the dominant allele of the gene <i>N</i> of scaly cover. Carriers of this allele are inferior to recessive <i>nn</i> homozygotes in terms of growth rate and viability and also differ in a number of physiological and meristic traits. In the present work, a case of the absence of pleiotropy was found: when scaleless females (<i>ssNn</i>) and males with scattered scale cover (<i>ssnn</i>) were crossed, naked and scattered offspring did not differ in growth rate, viability, and hematological parameters. The pleiotropic effect of the <i>N</i> gene was preserved only in terms of meristic traits. The absence of a negative effect of the <i>N</i> gene on productivity traits opens up the possibility of using naked carps in aquaculture.</p>","PeriodicalId":21441,"journal":{"name":"Russian Journal of Genetics","volume":"96 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140098395","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-11DOI: 10.1134/s1022795424020078
A. B. Kholina, E. V. Artyukova, D. V. Sandanov
Abstract
Genetic diversity and phylogenetic relationships of Oxytropis species from the section Verticillares were studied on the basis of nucleotide polymorphism of cpDNA intergenic spacers psbA-trnH, trnL-trnF, and trnS-trnG at the center of the section origin (Baikal Siberia and adjacent territories of Southern Siberia, Mongolia, and China). Moreover, for the first time, the reconstruction of phylogenetic relationships of species from the section Verticillares based on the analysis of ITS nrDNA has been performed. The article summarizes new material on the topic under study and data for a number of previously unstudied species and populations; 84.4% of populations of 11 species are characterized by a high level of chloroplast haplotype diversity (h varies from 0.700 to 1.000). The majority of populations (71.9%) have high haplotype diversity with low nucleotide diversity. Three haplogroups revealed in the genealogical network of chlorotypes indicate that there are different evolutionary pathways of the species included in these groups: divergence of genetically isolated taxa in the zone of sympatry presumably on the basis of ecological specialization; incomplete sorting of lineages with conservation of ancestral polymorphism in combination with hybridization of weakly diversified taxa; allopatric divergence and polyploidization. The analyses of chloroplast and nuclear genome markers indicate the rapid adaptive radiation of Oxytropis species from the section Verticillares.
{"title":"The Evolutionary Pathways of Oxytropis Species of the Section Verticillares at the Center of the Section Origin","authors":"A. B. Kholina, E. V. Artyukova, D. V. Sandanov","doi":"10.1134/s1022795424020078","DOIUrl":"https://doi.org/10.1134/s1022795424020078","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>Genetic diversity and phylogenetic relationships of <i>Oxytropis</i> species from the section <i>Verticillares</i> were studied on the basis of nucleotide polymorphism of cpDNA intergenic spacers <i>psbA-trnH</i>, <i>trnL-trnF</i>, and <i>trnS-trnG</i> at the center of the section origin (Baikal Siberia and adjacent territories of Southern Siberia, Mongolia, and China). Moreover, for the first time, the reconstruction of phylogenetic relationships of species from the section <i>Verticillares</i> based on the analysis of ITS nrDNA has been performed. The article summarizes new material on the topic under study and data for a number of previously unstudied species and populations; 84.4% of populations of 11 species are characterized by a high level of chloroplast haplotype diversity (<i>h</i> varies from 0.700 to 1.000). The majority of populations (71.9%) have high haplotype diversity with low nucleotide diversity. Three haplogroups revealed in the genealogical network of chlorotypes indicate that there are different evolutionary pathways of the species included in these groups: divergence of genetically isolated taxa in the zone of sympatry presumably on the basis of ecological specialization; incomplete sorting of lineages with conservation of ancestral polymorphism in combination with hybridization of weakly diversified taxa; allopatric divergence and polyploidization. The analyses of chloroplast and nuclear genome markers indicate the rapid adaptive radiation of <i>Oxytropis</i> species from the section <i>Verticillares</i>.</p>","PeriodicalId":21441,"journal":{"name":"Russian Journal of Genetics","volume":"23 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140098480","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-10DOI: 10.1134/s102279542401006x
A. E. Gareeva
Abstract
Schizophrenia is a highly hereditary disorder. Genetic risk is associated with a large number of alleles, including common alleles with little effect that can be found in genome-wide association studies. The aim of this study was to study genetic risk factors for the development of schizophrenia in a genome-wide association analysis (GWAS) in Russians from the Republic of Bashkortostan. The studied sample consisted of 320 patients with paranoid schizophrenia and 402 healthy individuals. GWAS genotyping of DNA samples was carried out on the PsychChip biochip, which included 610 000 single nucleotide polymorphic variants (SNPs).
{"title":"Genome-Wide Analysis of the Risk Association for the Development of Paranoid Schizophrenia in Russians: Search for Genetic Markers in the 1q43 Chromosomal Region","authors":"A. E. Gareeva","doi":"10.1134/s102279542401006x","DOIUrl":"https://doi.org/10.1134/s102279542401006x","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>Schizophrenia is a highly hereditary disorder. Genetic risk is associated with a large number of alleles, including common alleles with little effect that can be found in genome-wide association studies. The aim of this study was to study genetic risk factors for the development of schizophrenia in a genome-wide association analysis (GWAS) in Russians from the Republic of Bashkortostan. The studied sample consisted of 320 patients with paranoid schizophrenia and 402 healthy individuals. GWAS genotyping of DNA samples was carried out on the PsychChip biochip, which included 610 000 single nucleotide polymorphic variants (SNPs).</p>","PeriodicalId":21441,"journal":{"name":"Russian Journal of Genetics","volume":"51 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140098332","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-10DOI: 10.1134/s1022795424010137
O. B. Zelenova, M. A. Galkina, V. G. Onipchenko, I. A. Schanzer
Abstract
Trifolium polyphyllum is a Caucasian endemic of the Fabaceae family peculiar for its inability of nitrogen fixation. Despite this unique trait, the species is insufficiently studied; in particular, little is known about its propagation and dispersal modes. Analyses of ISSR markers in specimens from a population at the Malaya Khatipara Mountain revealed that the species is capable of both sexual and vegetative propagation; however, the former mode dominates. We found out that separate patches within a local population are considerably genetically differentiated within an area of about 2000 m2 (PhiPT = 0.349; p = 0.001). We suppose this may happen owing to a lack of adaptations to seed dispersal. We also suppose that the observed concentration of genetically admixed individuals in the upper parts of slopes is due to peculiarities of the behavior of pollinators. The size of vegetative clones does not exceed 1 m2.
{"title":"Genetic Differentiation and Clonality in a Local Population of the Caucasian Endemic Trifolium polyphyllum C.A. Mey. (Fabacae)","authors":"O. B. Zelenova, M. A. Galkina, V. G. Onipchenko, I. A. Schanzer","doi":"10.1134/s1022795424010137","DOIUrl":"https://doi.org/10.1134/s1022795424010137","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p><i>Trifolium polyphyllum</i> is a Caucasian endemic of the Fabaceae family peculiar for its inability of nitrogen fixation. Despite this unique trait, the species is insufficiently studied; in particular, little is known about its propagation and dispersal modes. Analyses of ISSR markers in specimens from a population at the Malaya Khatipara Mountain revealed that the species is capable of both sexual and vegetative propagation; however, the former mode dominates. We found out that separate patches within a local population are considerably genetically differentiated within an area of about 2000 m<sup>2</sup> (PhiPT = 0.349; <i>p</i> = 0.001). We suppose this may happen owing to a lack of adaptations to seed dispersal. We also suppose that the observed concentration of genetically admixed individuals in the upper parts of slopes is due to peculiarities of the behavior of pollinators. The size of vegetative clones does not exceed 1 m<sup>2</sup>.</p>","PeriodicalId":21441,"journal":{"name":"Russian Journal of Genetics","volume":"87 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140098315","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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