Pub Date : 2024-05-03DOI: 10.1134/s1022795424040033
G. A. Ashniev, S. G. Georgieva, J. V. Nikolenko
Abstract
MLE of D. melanogaster is a conserved protein in higher eukaryotes, an ortholog of human DHX9 helicase. In mammals, this helicase has been shown to participate in different stages of gene expression. In D. melanogaster, the role of MLE as one of the components of the species-specific Dosage Compensation Complex has been extensively studied. However, the role of MLE in other processes has remained poorly understood. In this work, for the first time, the mle[9] mutation is mapped at the molecular level and shown to be caused by a deletion resulting in the loss of a highly conserved motif III in the catalytic core of the molecule. Thus, mle[9] specifically disrupts the helicase activity of the protein without affecting the function of other domains. The study of phenotypic manifestations of the mutation in females showed that in the homozygous state it has a pleiotropic effect. Without affecting survival, it significantly reduces fertility and lifespan. In addition, the duplication of scutellar macrochaetae was observed with high frequency. These results confirm that in D. melanogaster MLE helicase is involved in a wide range of gene expression regulation processes distinct from its role in dosage compensation.
{"title":"Drosophila melanogaster MLE Helicase Functions Beyond Dosage Compensation: Molecular Nature and Pleiotropic Effect of mle[9] Mutation","authors":"G. A. Ashniev, S. G. Georgieva, J. V. Nikolenko","doi":"10.1134/s1022795424040033","DOIUrl":"https://doi.org/10.1134/s1022795424040033","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>MLE of <i>D. melanogaster</i> is a conserved protein in higher eukaryotes, an ortholog of human DHX9 helicase. In mammals, this helicase has been shown to participate in different stages of gene expression. In <i>D. melanogaster</i>, the role of MLE as one of the components of the species-specific Dosage Compensation Complex has been extensively studied. However, the role of MLE in other processes has remained poorly understood. In this work, for the first time, the <i>mle[9]</i> mutation is mapped at the molecular level and shown to be caused by a deletion resulting in the loss of a highly conserved motif III in the catalytic core of the molecule. Thus, <i>mle[9]</i> specifically disrupts the helicase activity of the protein without affecting the function of other domains. The study of phenotypic manifestations of the mutation in females showed that in the homozygous state it has a pleiotropic effect. Without affecting survival, it significantly reduces fertility and lifespan. In addition, the duplication of scutellar macrochaetae was observed with high frequency. These results confirm that in <i>D. melanogaster</i> MLE helicase is involved in a wide range of gene expression regulation processes distinct from its role in dosage compensation.</p>","PeriodicalId":21441,"journal":{"name":"Russian Journal of Genetics","volume":"98 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140889114","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 : 2024-05-03DOI: 10.1134/s1022795424040100
N. Yu. Ogorodova, A. A. Stepanova, O. A. Shchagina, V. V. Kadyshev, A. V. Polyakov
Abstract
Inherited retinal diseases (IRDs) are a clinically heterogeneous group of retinal pathologies associated with vision loss due to dysfunction or degeneration of photoreceptor and retinal pigment epithelium. Autosomal recessive forms of IRDs account for more than 55% of all diseases in this group on average worldwide. This study presents data on frequent pathogenic and likely pathogenic variants in recessive genes of IRDs obtained from a retrospective analysis of high-throughput sequencing data from a large Russian cohort of patients with suspected inherited nonsyndromic retinal pathology. Data from 1470 unrelated patients were analyzed. Pathogenic and likely pathogenic variants were identified in the zygosity required for the development of the disease in 643 patients (43.74%). It was found that nine genes (ABCA4, CNGB3, USH2A, RPE65, CRB1, CNGA3, CEP290, GUCY2D, PDE6H) account for 73.3% of all molecularly confirmed cases of IRDs in Russian patients. An analysis of the spectrum of nucleotide variants of these genes was carried out, and 17 variants were identified that occur with an allelic frequency of more than 1% for each gene. In light of the data obtained, diagnostic systems based on the multiplex ligation-dependent probe amplification reaction (MLPA) were developed. The informativity of the two systems for diagnosing autosomal recessive nonsyndromic forms of inherited retinal diseases is 16.4%, the informativity for all forms of nonsyndromic retinal diseases exceeds 7%. For a group of patients with achromatopsia, a study using one of the systems will make it possible to establish a diagnosis in 62.5% of cases.
{"title":"Frequent Genetic Variants of Autosomal Recessive Nonsyndromic Forms of Inherited Retinal Diseases in the Russian Federation","authors":"N. Yu. Ogorodova, A. A. Stepanova, O. A. Shchagina, V. V. Kadyshev, A. V. Polyakov","doi":"10.1134/s1022795424040100","DOIUrl":"https://doi.org/10.1134/s1022795424040100","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>Inherited retinal diseases (IRDs) are a clinically heterogeneous group of retinal pathologies associated with vision loss due to dysfunction or degeneration of photoreceptor and retinal pigment epithelium. Autosomal recessive forms of IRDs account for more than 55% of all diseases in this group on average worldwide. This study presents data on frequent pathogenic and likely pathogenic variants in recessive genes of IRDs obtained from a retrospective analysis of high-throughput sequencing data from a large Russian cohort of patients with suspected inherited nonsyndromic retinal pathology. Data from 1470 unrelated patients were analyzed. Pathogenic and likely pathogenic variants were identified in the zygosity required for the development of the disease in 643 patients (43.74%). It was found that nine genes (<i>ABCA4</i>, <i>CNGB3</i>, <i>USH2A</i>, <i>RPE65</i>, <i>CRB1</i>, <i>CNGA3</i>, <i>CEP290</i>, <i>GUCY2D</i>, <i>PDE6H</i>) account for 73.3% of all molecularly confirmed cases of IRDs in Russian patients. An analysis of the spectrum of nucleotide variants of these genes was carried out, and 17 variants were identified that occur with an allelic frequency of more than 1% for each gene. In light of the data obtained, diagnostic systems based on the multiplex ligation-dependent probe amplification reaction (MLPA) were developed. The informativity of the two systems for diagnosing autosomal recessive nonsyndromic forms of inherited retinal diseases is 16.4%, the informativity for all forms of nonsyndromic retinal diseases exceeds 7%. For a group of patients with achromatopsia, a study using one of the systems will make it possible to establish a diagnosis in 62.5% of cases.</p>","PeriodicalId":21441,"journal":{"name":"Russian Journal of Genetics","volume":"42 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140889693","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 : 2024-04-08DOI: 10.1134/s1022795424030098
T. V. Lezheiko, V. A. Mikhailova, M. V. Gabaeva, V. E. Golimbet
Abstract
It is known that the neurohormone oxytocin plays an important role in the pathogenesis of mental illness and also models the relationship between stress factors, especially those acting in the early stages of development, and the development of mental disorders. On the basis of these data, we investigated the effects of the interaction of the environmental factor, in the capacity of which the childhood adversity (CA) and the oxytocin receptor (OXTR) genotypes in the polymorphic sites rs4686302 and rs7632287 were considered, on the severity of negative symptoms of schizophrenia. The study involved 592 patients with schizophrenia (code F20, according to ICD-10). Information about the presence of CA was obtained from case histories and patient interviews. Analysis of covariance (GML) was used for statistical data processing; in post hoc pairwise comparison, Tukey’s test was used. A significant effect of the interaction between CA and OXTR gene polymorphism rs7632287 (G/A) on the severity of negative symptoms in patients with schizophrenia was revealed. In patients without CA, polymorphisms did not have a significant effect on the studied phenotype. Thus, our study showed for the first time that the rs7632287 (G/A) polymorphism and CA have a mutual effect on the severity of negative symptoms of schizophrenia.
摘要 众所周知，神经激素催产素在精神疾病的发病机制中发挥着重要作用，同时也是压力因素（尤其是那些作用于发育早期的压力因素）与精神障碍发展之间关系的模型。在这些数据的基础上，我们研究了环境因素相互作用对精神分裂症阴性症状严重程度的影响，其中考虑了童年逆境（CA）和多态位点 rs4686302 和 rs7632287 中的催产素受体（OXTR）基因型。这项研究涉及 592 名精神分裂症患者（根据 ICD-10 标准，代码为 F20）。从病史和患者访谈中获得了有关 CA 存在的信息。统计数据处理采用协方差分析（GML）；事后配对比较采用 Tukey 检验。结果显示，CA 与 OXTR 基因多态性 rs7632287 (G/A) 之间的交互作用对精神分裂症患者阴性症状的严重程度有明显影响。而在无 CA 的患者中，多态性对所研究的表型没有显著影响。因此，我们的研究首次表明，rs7632287 (G/A) 多态性与 CA 对精神分裂症阴性症状的严重程度有相互影响。
{"title":"Study of the Association between Oxytocin Receptor Gene Polymorphism, Childhood Adversity, and Negative Symptoms of Schizophrenia","authors":"T. V. Lezheiko, V. A. Mikhailova, M. V. Gabaeva, V. E. Golimbet","doi":"10.1134/s1022795424030098","DOIUrl":"https://doi.org/10.1134/s1022795424030098","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>It is known that the neurohormone oxytocin plays an important role in the pathogenesis of mental illness and also models the relationship between stress factors, especially those acting in the early stages of development, and the development of mental disorders. On the basis of these data, we investigated the effects of the interaction of the environmental factor, in the capacity of which the childhood adversity (CA) and the oxytocin receptor (<i>OXTR</i>) genotypes in the polymorphic sites rs4686302 and rs7632287 were considered, on the severity of negative symptoms of schizophrenia. The study involved 592 patients with schizophrenia (code F20, according to ICD-10). Information about the presence of CA was obtained from case histories and patient interviews. Analysis of covariance (GML) was used for statistical data processing; in post hoc pairwise comparison, Tukey’s test was used. A significant effect of the interaction between CA and <i>OXTR</i> gene polymorphism rs7632287 (<i>G</i>/<i>A</i>) on the severity of negative symptoms in patients with schizophrenia was revealed. In patients without CA, polymorphisms did not have a significant effect on the studied phenotype. Thus, our study showed for the first time that the rs7632287 (<i>G</i>/<i>A</i>) polymorphism and CA have a mutual effect on the severity of negative symptoms of schizophrenia.</p>","PeriodicalId":21441,"journal":{"name":"Russian Journal of Genetics","volume":"19 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140580730","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 : 2024-04-08DOI: 10.1134/s1022795424030153
B. V. Titov, N. A. Matveeva, E. A. Bazyleva, A. V. Pevzner, O. O. Favorova
Abstract
The most common cause of transient loss of consciousness is vasovagal syncope (VVS), which occurs owing to hypoperfusion of the brain due to the interruption of vegetative blood circulation control leading to arterial hypotension. It is known that there is a genetic predisposition to VVS, but the data on the role of individual genes are quite inconsistent. Using APSampler software, which is based on a Markov chain Monte Carlo technique and Bayesian nonparametric statistics, we identified biallelic combinations associated with VVS and investigated the nature of interaction between their components. We used the previously obtained results of genomic typing of single nucleotide polymorphisms (SNPs) of five genes the products of which are involved in neurohumoral regulation and four SNPs within locus 2q32.1, supplemented with data for new individuals included in the study. The total sample included 175 patients with a confirmed diagnosis of VVS and 200 control individuals without a history of syncope. Eleven pairwise combinations of SNPs of different genes were found to be associated with VVS. Five of these combinations were epistatic, four of which included SNPs at the 2q32.1 locus located within or near noncoding RNA genes. It is suggested that genes of noncoding RNAs localized on chromosome 2 may directly or indirectly (through cascades of interactions) participate in the regulation of the activity of genes forming epistatic combinations with them.
{"title":"Search for Epistatically Interacting Genetic Variants That Are Associated with Vasovagal Syncope within Biallelic Combinations","authors":"B. V. Titov, N. A. Matveeva, E. A. Bazyleva, A. V. Pevzner, O. O. Favorova","doi":"10.1134/s1022795424030153","DOIUrl":"https://doi.org/10.1134/s1022795424030153","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>The most common cause of transient loss of consciousness is vasovagal syncope (VVS), which occurs owing to hypoperfusion of the brain due to the interruption of vegetative blood circulation control leading to arterial hypotension. It is known that there is a genetic predisposition to VVS, but the data on the role of individual genes are quite inconsistent. Using APSampler software, which is based on a Markov chain Monte Carlo technique and Bayesian nonparametric statistics, we identified biallelic combinations associated with VVS and investigated the nature of interaction between their components. We used the previously obtained results of genomic typing of single nucleotide polymorphisms (SNPs) of five genes the products of which are involved in neurohumoral regulation and four SNPs within locus 2q32.1, supplemented with data for new individuals included in the study. The total sample included 175 patients with a confirmed diagnosis of VVS and 200 control individuals without a history of syncope. Eleven pairwise combinations of SNPs of different genes were found to be associated with VVS. Five of these combinations were epistatic, four of which included SNPs at the 2q32.1 locus located within or near noncoding RNA genes. It is suggested that genes of noncoding RNAs localized on chromosome 2 may directly or indirectly (through cascades of interactions) participate in the regulation of the activity of genes forming epistatic combinations with them.</p>","PeriodicalId":21441,"journal":{"name":"Russian Journal of Genetics","volume":"15 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140580732","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 : 2024-04-08DOI: 10.1134/s1022795424030025
D. D. Asadullina, I. R. Gilyazova, E. A. Ivanova, S. M. Izmailova, G. R. Gilyazova, V. N. Pavlov, E. K. Khusnutdinova
Abstract
Clear cell renal cell carcinoma (ccRCC) is a malignant kidney tumour with a poor prognosis and difficult to treat. Despite significant advances in the treatment of ccRCC, immune checkpoint inhibitors (ICI) still have limited therapeutic efficacy. A growing number of investigations has demonstrated that exosomal miRNAs are key modulators of tumour signaling and determinants of the tumour microenvironment. Disruption of miRNA regulation may affect ccRCC immunogenicity and response to ICI therapy, making them attractive for use as prognostic molecular genetic biomarkers. We evaluated exosomal miRNAs (miRNA-424, -146a, -503, -144) expression levels before and after ICI therapy in plasma samples obtained from 42 ccRCC patients. Expression analysis was performed using real-time PCR method. The results showed that the expression levels of miRNA-424 and miRNA-146a were upregulated after ICI therapy treatment (miRNA-424 = Mean ± SEM 1.202 ± 0.15 and miRNA-146a = 12.22 ± 1.45) compared expression levels before therapy (miRNA-424 = Mean ± SEM 0.63 ± 0.17; p-value = 0.03 and miRNA-146a = 7.03 ± 0.90; p-value = 0.006). miRNA-424 and miRNA-146a can be used to create a panel of molecular markers for evaluating the effectiveness of immune checkpoint inhibitors therapy. Even though the results are preliminary and requires further studying on a larger cohorts, it further increases the interest in using miRNAs, as additional ICI therapeutic markers capable of modulating immune tolerance.
{"title":"Exosomal miRNA-146a and miRNA-424 as Possible Predictors of Immune Checkpoint Inhibitors Therapy Response in Clear Cell Renal Cell Carcinoma","authors":"D. D. Asadullina, I. R. Gilyazova, E. A. Ivanova, S. M. Izmailova, G. R. Gilyazova, V. N. Pavlov, E. K. Khusnutdinova","doi":"10.1134/s1022795424030025","DOIUrl":"https://doi.org/10.1134/s1022795424030025","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>Clear cell renal cell carcinoma (ccRCC) is a malignant kidney tumour with a poor prognosis and difficult to treat. Despite significant advances in the treatment of ccRCC, immune checkpoint inhibitors (ICI) still have limited therapeutic efficacy. A growing number of investigations has demonstrated that exosomal miRNAs are key modulators of tumour signaling and determinants of the tumour microenvironment. Disruption of miRNA regulation may affect ccRCC immunogenicity and response to ICI therapy, making them attractive for use as prognostic molecular genetic biomarkers. We evaluated exosomal miRNAs (miRNA-424, -146a, -503, -144) expression levels before and after ICI therapy in plasma samples obtained from 42 ccRCC patients. Expression analysis was performed using real-time PCR method. The results showed that the expression levels of miRNA-424 and miRNA-146a were upregulated after ICI therapy treatment (miRNA-424 = Mean ± SEM 1.202 ± 0.15 and miRNA-146a = 12.22 ± 1.45) compared expression levels before therapy (miRNA-424 = Mean ± SEM 0.63 ± 0.17; <i>p</i>-value = 0.03 and miRNA-146a = 7.03 ± 0.90; <i>p</i>-value = 0.006). miRNA-424 and miRNA-146a can be used to create a panel of molecular markers for evaluating the effectiveness of immune checkpoint inhibitors therapy. Even though the results are preliminary and requires further studying on a larger cohorts, it further increases the interest in using miRNAs, as additional ICI therapeutic markers capable of modulating immune tolerance.</p>","PeriodicalId":21441,"journal":{"name":"Russian Journal of Genetics","volume":"14 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140580868","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 : 2024-04-08DOI: 10.1134/s1022795424030049
K. Bashir, A. Anum, I. Idrees, H. T. Manzoor
Abstract
Association of genes CYP19A1 (rs2414096), CYP17 (rs743572) and FSHR (rs2268361) variants on the susceptibility of developing PCOS was studied. This disease is most common problem faced by Pakistani females. The incidence of this disease has increased last couple of decades but no work on genes involved in PCOS has been done so far in Pakistan. Blood samples of 300 subjects including 150 PCOS cases and 150 age-matched controls were collected from different hospitals of Pakistan. DNA extraction from whole blood was done followed by DNA amplification. Data was collected on a pre-designed questionnaire for age, BMI, smoking status, and family history. Statistical analysis was done using different statistical tools. Homozygous mutant (GG) of rs2414096 SNP of CYP19A1 gene contributes significantly to the decreased risk of PCOS (OR = 0.24; 95% CI = 0.15–0.40; P = 0.0001), while heterozygous (AG) of the same SNP shows positive association with increased PCOS risk up to 2.62 folds (OR = 2.62; 95% CI = 1.60–4.30; P = 0.0001). Combined genotype model (GG+AG) of this SNP again shows significant association with decreased PCOS risk (OR = 0.44; 95% CI = 0.24–0.81; P = 0.0086). In Case of rs743572 polymorphism of CYP17 gene, homozygous mutant (CC) significantly increased the risk of PCOS by 3.2-fold (OR = 3.22; 95% CI = 1.94–4.34; p = 0.0001) while heterozygous (TC) of the same SNP significantly decreased the risk of PCOS (OR = 0.34; 95% CI = 0.20–0.58; p = 0.0001). In rs2268361 variants of FSHR gene, homozygous mutant (TT) significantly decreases the risk of PCOS and plays a protective role (OR = 0.52; 95% CI = 0.33–0.84; p = 0.0072) while heterozygous (CT) of the same SNP significantly increases the risk of PCOS up to 3 folds (OR = 3.46; 95% CI = 1.97–6.07; p = 0.0001). An increased risk of PCOS is associated with the rs2414096, rs743572 and rs2268361 genotype of genes CYP19A1, CYP17 and FSHR respectively.
摘要 研究了基因 CYP19A1（rs2414096）、CYP17（rs743572）和 FSHR（rs2268361）变异与多囊卵巢综合征易感性的关系。多囊卵巢综合征是巴基斯坦女性面临的最常见问题。近几十年来，这种疾病的发病率有所上升，但迄今为止，巴基斯坦尚未开展过与多囊卵巢综合症有关的基因研究。研究人员从巴基斯坦不同的医院收集了 300 名受试者的血样，其中包括 150 名多囊卵巢综合征病例和 150 名年龄匹配的对照者。从全血中提取 DNA，然后进行 DNA 扩增。通过预先设计的问卷收集了有关年龄、体重指数、吸烟状况和家族史的数据。使用不同的统计工具进行了统计分析。CYP19A1基因的rs2414096 SNP的同源突变体（GG）显著降低了多囊卵巢综合征的风险（OR = 0.24; 95% CI = 0.15-0.40; P = 0.0001），而同一SNP的杂合体（AG）则与多囊卵巢综合征风险的增加呈正相关，最高可达2.62倍（OR = 2.62; 95% CI = 1.60-4.30; P = 0.0001）。该 SNP 的组合基因型模型（GG+AG）再次显示与 PCOS 风险降低有显著关联（OR = 0.44；95% CI = 0.24-0.81；P = 0.0086）。在 CYP17 基因的 rs743572 多态性中，同卵突变体（CC）显著增加 PCOS 风险 3.2 倍（OR = 3.22；95% CI = 1.94-4.34；P = 0.0001），而同一 SNP 的杂合体（TC）显著降低 PCOS 风险（OR = 0.34；95% CI = 0.20-0.58；P = 0.0001）。在FSHR基因的rs2268361变异中，同源突变体（TT）会明显降低多囊卵巢综合征的风险，并起到保护作用（OR = 0.52; 95% CI = 0.33-0.84; p = 0.0072），而同一SNP的杂合体（CT）会明显增加多囊卵巢综合征的风险达3倍（OR = 3.46; 95% CI = 1.97-6.07; p = 0.0001）。多囊卵巢综合症风险的增加分别与 CYP19A1、CYP17 和 FSHR 基因的 rs2414096、rs743572 和 rs2268361 基因型有关。
{"title":"Elucidating the Molecular Genetics of Genes CYP19A1, CYP17, and FSHR Variants Association in Polycystic Ovarian Syndrome","authors":"K. Bashir, A. Anum, I. Idrees, H. T. Manzoor","doi":"10.1134/s1022795424030049","DOIUrl":"https://doi.org/10.1134/s1022795424030049","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>Association of genes <i>CYP19A1</i> (rs2414096), <i>CYP17</i> (rs743572) and <i>FSHR</i> (rs2268361) variants on the susceptibility of developing PCOS was studied. This disease is most common problem faced by Pakistani females. The incidence of this disease has increased last couple of decades but no work on genes involved in PCOS has been done so far in Pakistan. Blood samples of 300 subjects including 150 PCOS cases and 150 age-matched controls were collected from different hospitals of Pakistan. DNA extraction from whole blood was done followed by DNA amplification. Data was collected on a pre-designed questionnaire for age, BMI, smoking status, and family history. Statistical analysis was done using different statistical tools. Homozygous mutant (GG) of rs2414096 SNP of <i>CYP19A1</i> gene contributes significantly to the decreased risk of PCOS (OR = 0.24; 95% CI = 0.15–0.40; <i>P</i> = 0.0001), while heterozygous (AG) of the same SNP shows positive association with increased PCOS risk up to 2.62 folds (OR = 2.62; 95% CI = 1.60–4.30; <i>P</i> = 0.0001). Combined genotype model (GG+AG) of this SNP again shows significant association with decreased PCOS risk (OR = 0.44; 95% CI = 0.24–0.81; <i>P</i> = 0.0086). In Case of rs743572 polymorphism of <i>CYP17</i> gene, homozygous mutant (CC) significantly increased the risk of PCOS by 3.2-fold (OR = 3.22; 95% CI = 1.94–4.34; <i>p</i> = 0.0001) while heterozygous (TC) of the same SNP significantly decreased the risk of PCOS (OR = 0.34; 95% CI = 0.20–0.58; <i>p</i> = 0.0001). In rs2268361 variants of <i>FSHR</i> gene, homozygous mutant (TT) significantly decreases the risk of PCOS and plays a protective role (OR = 0.52; 95% CI = 0.33–0.84; <i>p</i> = 0.0072) while heterozygous (CT) of the same SNP significantly increases the risk of PCOS up to 3 folds (OR = 3.46; 95% CI = 1.97–6.07; <i>p</i> = 0.0001). An increased risk of PCOS is associated with the rs2414096, rs743572 and rs2268361 genotype of genes <i>CYP19A1, CYP17</i> and <i>FSHR</i> respectively.</p>","PeriodicalId":21441,"journal":{"name":"Russian Journal of Genetics","volume":"67 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140580720","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 : 2024-04-08DOI: 10.1134/s1022795424030128
O. N. Savelieva, A. S. Karunas, A. R. Biktasheva, A. O. Vlasova, I. M. Khidiyatova, E. I. Etkina, E. K. Khusnutdinova
Abstract
The interaction of genetic, epigenetic, and environmental factors underlies the pathogenesis of allergic diseases. Allergic rhinitis and atopic bronchial asthma are closely related and often concurrent allergic airway diseases. The chronic recurrent course of these diseases establishes the importance of further and more profound studies of the mechanisms underlying the development of these pathologies. Histamine is one of the most significant inflammatory mediators secreted during allergic reactions. The aim of the research was to study the role of polymorphic variants of the AOC1, HRH2, HRH3, ALDH7A1, ADCYAP1, HNMT, PSAP, and SCG3 genes involved in the histamine metabolism in the development of different endophenotypes of the allergic airway diseases in individuals living in the Republic of Bashkortostan. DNA samples of 358 individuals with allergic airway diseases of different ethnicity (Russians—165, Tatars—143, Bashkirs—50) and 200 controls with unweighted heredity in allergic diseases (Russians—75, Tatars—83, Bashkirs—42). Genotyping of polymorphic variants was performed by real-time PCR and PCR-RFLP analysis. It was revealed that the rs104979793*CC genotype and the rs104979793*C allele of the AOC1 gene were associated with allergic airway diseases and asthma with concomitant allergic rhinitis in Russians. A significant increase in total IgE level was revealed in Russian patients with allergic airway diseases with the rs1049793*CC genotype of the AOC1 gene compared to carriers of the rs1049793*CG and rs1049793*GG genotypes. The association of the C allele of the rs17525472 polymorphic variant localized near the SCG3 gene with allergic rhinitis in Russians was established. The results revealed that AOC1 and SCG3 genes involved in the metabolism of histamine are related to the development of different endophenotypes of allergic airway tract diseases in children.
{"title":"Study of the Role of Genes Involved in the Metabolism of Histamine in the Development of Allergic Respiratory Diseases","authors":"O. N. Savelieva, A. S. Karunas, A. R. Biktasheva, A. O. Vlasova, I. M. Khidiyatova, E. I. Etkina, E. K. Khusnutdinova","doi":"10.1134/s1022795424030128","DOIUrl":"https://doi.org/10.1134/s1022795424030128","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>The interaction of genetic, epigenetic, and environmental factors underlies the pathogenesis of allergic diseases. Allergic rhinitis and atopic bronchial asthma are closely related and often concurrent allergic airway diseases. The chronic recurrent course of these diseases establishes the importance of further and more profound studies of the mechanisms underlying the development of these pathologies. Histamine is one of the most significant inflammatory mediators secreted during allergic reactions. The aim of the research was to study the role of polymorphic variants of the <i>AOC1</i>, <i>HRH2</i>, <i>HRH3</i>, <i>ALDH7A1</i>, <i>ADCYAP1</i>, <i>HNMT</i>, <i>PSAP</i>, and <i>SCG3</i> genes involved in the histamine metabolism in the development of different endophenotypes of the allergic airway diseases in individuals living in the Republic of Bashkortostan. DNA samples of 358 individuals with allergic airway diseases of different ethnicity (Russians—165, Tatars—143, Bashkirs—50) and 200 controls with unweighted heredity in allergic diseases (Russians—75, Tatars—83, Bashkirs—42). Genotyping of polymorphic variants was performed by real-time PCR and PCR-RFLP analysis. It was revealed that the rs104979793*<i>CC</i> genotype and the rs104979793*<i>C</i> allele of the <i>AOC1</i> gene were associated with allergic airway diseases and asthma with concomitant allergic rhinitis in Russians. A significant increase in total IgE level was revealed in Russian patients with allergic airway diseases with the rs1049793*<i>CC</i> genotype of the <i>AOC1</i> gene compared to carriers of the rs1049793*<i>CG</i> and rs1049793*<i>GG</i> genotypes. The association of the <i>C</i> allele of the rs17525472 polymorphic variant localized near the <i>SCG3</i> gene with allergic rhinitis in Russians was established. The results revealed that <i>AOC1</i> and <i>SCG3</i> genes involved in the metabolism of histamine are related to the development of different endophenotypes of allergic airway tract diseases in children.</p>","PeriodicalId":21441,"journal":{"name":"Russian Journal of Genetics","volume":"49 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140580724","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 : 2024-04-08DOI: 10.1134/s1022795424030141
J. Tang, Y. Yang, J. Wei, B. Pan, J. Yang, T. Ding, X. Wei
Abstract
Abies yuanbaoshanensis is an endemic endangered plant species in China. It is a global key protected coniferous tree species with critical academic value for phylogenetic and global climate change studies. Seven SSR primer pairs were used to amplify eight natural population and progeny. The results showed that a total of 29 alleles were amplified. The average Na, I, Ho, He, and F indices of the eight native populations were 3.125, 0.811, 0.413, 0.467, and 0.108, respectively. Compared with the natural population, the number of alleles, Shannon diversity index, and expected heterozygosity of the progeny population were higher than the average of the natural population. However, the number of effective alleles, observed heterozygosity, and inbreeding coefficient were lower than the average of the original population. SSR is usually a dominant marker with good stability and polymorphism in Mendelian inheritance. Priority should be given to LPF and LSP populations, which have high genetic diversity and private alleles. The results of SSR genetic information loci of natural populations and their progeny is helpful to study the genetic relationship between Abies yuanbaoshanensis and Abies from the molecular level, which lays a foundation for the classification of Abies and the construction of the core germplasm of Abies yuanbaoshanensis.
{"title":"Comparison of Genetic Diversity and Core Locus Information of Abies yuanbaoshanensis Natural Population and Progeny","authors":"J. Tang, Y. Yang, J. Wei, B. Pan, J. Yang, T. Ding, X. Wei","doi":"10.1134/s1022795424030141","DOIUrl":"https://doi.org/10.1134/s1022795424030141","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p><i>Abies yuanbaoshanensis</i> is an endemic endangered plant species in China. It is a global key protected coniferous tree species with critical academic value for phylogenetic and global climate change studies. Seven SSR primer pairs were used to amplify eight natural population and progeny. The results showed that a total of 29 alleles were amplified. The average <i>N</i><sub>a</sub>, <i>I</i>, <i>H</i><sub>o</sub>, <i>H</i><sub>e</sub>, and <i>F</i> indices of the eight native populations were 3.125, 0.811, 0.413, 0.467, and 0.108, respectively. Compared with the natural population, the number of alleles, Shannon diversity index, and expected heterozygosity of the progeny population were higher than the average of the natural population. However, the number of effective alleles, observed heterozygosity, and inbreeding coefficient were lower than the average of the original population. SSR is usually a dominant marker with good stability and polymorphism in Mendelian inheritance. Priority should be given to LPF and LSP populations, which have high genetic diversity and private alleles. The results of SSR genetic information loci of natural populations and their progeny is helpful to study the genetic relationship between <i>Abies yuanbaoshanensis</i> and <i>Abies</i> from the molecular level, which lays a foundation for the classification of <i>Abies</i> and the construction of the core germplasm of <i>Abies yuanbaoshanensis.</i></p>","PeriodicalId":21441,"journal":{"name":"Russian Journal of Genetics","volume":"34 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140580733","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 : 2024-04-08DOI: 10.1134/s1022795424030104
D. O. Odegov, A. A. Valyaeva, M. S. Arakelyan, A. P. Ryskov, V. I. Korchagin, I. A. Martirosyan
Abstract
The study of Caucasian rock lizards of the Darevskia raddei complex represented by several subspecies is of great interest and scientific significance in connection with their participation in interspecific hybridizations with the formation of five of the seven known unisexual (parthenogenetic) species of the Darevskia genus. Here, we present genetic parameters for populations (subspecies) of D. r. raddei and D. r. nairensis based on the analysis of the variability of ten microsatellite loci of 230 individuals from 17 populations of Armenia and Nagorno-Karabakh. According to these parameters, D. r. raddei are characterized by greater diversity in the number of alleles and genotypes compared to D. r. nairensis. Genetic differentiation analysis showed that D. r. raddei populations are divided into two groups, one of which is genetically closer to D. r. nairensis than to D. r. raddei. Analysis of the association index showed the absence of free recombination of alleles between subspecies, which indicates their isolation and the absence of crossing between individuals. Thus, on the basis of the expanded population sample and the developed panel of microsatellite markers, new data on the population structure of D. raddei species and on the genetic diversity and differentiation of D. r. raddei and D. r. nairensis were obtained.
摘要对以几个亚种为代表的Darevskia raddei复合体高加索岩蜥的研究具有极大的兴趣和科学意义，因为它们参与了种间杂交，形成了Darevskia属七个已知单性（孤雌生殖）物种中的五个。在此，我们根据对亚美尼亚和纳戈尔诺-卡拉巴赫 17 个种群 230 个个体的 10 个微卫星位点的变异性分析，提出了 D. r. raddei 和 D. r. nairensis 种群（亚种）的遗传参数。根据这些参数，与 D. r. nairensis 相比，D. r. raddei 在等位基因数量和基因型方面具有更大的多样性。遗传分化分析表明，D. r. raddei 群体分为两组，其中一组在遗传上更接近 D. r. nairensis，而不是 D. r. raddei。关联指数分析表明，亚种之间不存在等位基因的自由重组，这表明它们是孤立的，个体之间不存在杂交。因此，在扩大种群样本和开发微卫星标记小组的基础上，获得了关于 D. raddei 种群结构以及 D. r. raddei 和 D. r. nairensis 遗传多样性和分化的新数据。
{"title":"Polymorphism of Microsatellite Loci in Populations of Caucasian Rock Lizards and Its Use for Assessing the Genetic Diversity of Darevskia raddei","authors":"D. O. Odegov, A. A. Valyaeva, M. S. Arakelyan, A. P. Ryskov, V. I. Korchagin, I. A. Martirosyan","doi":"10.1134/s1022795424030104","DOIUrl":"https://doi.org/10.1134/s1022795424030104","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>The study of Caucasian rock lizards of the <i>Darevskia raddei</i> complex represented by several subspecies is of great interest and scientific significance in connection with their participation in interspecific hybridizations with the formation of five of the seven known unisexual (parthenogenetic) species of the <i>Darevskia</i> genus. Here, we present genetic parameters for populations (subspecies) of <i>D. r. raddei</i> and <i>D. r. nairensis</i> based on the analysis of the variability of ten microsatellite loci of 230 individuals from 17 populations of Armenia and Nagorno-Karabakh. According to these parameters, <i>D. r. raddei</i> are characterized by greater diversity in the number of alleles and genotypes compared to <i>D. r. nairensis</i>. Genetic differentiation analysis showed that <i>D. r. raddei</i> populations are divided into two groups, one of which is genetically closer to <i>D. r. nairensis</i> than to <i>D. r. raddei</i>. Analysis of the association index showed the absence of free recombination of alleles between subspecies, which indicates their isolation and the absence of crossing between individuals. Thus, on the basis of the expanded population sample and the developed panel of microsatellite markers, new data on the population structure of <i>D. raddei</i> species and on the genetic diversity and differentiation of <i>D. r. raddei</i> and <i>D. r. nairensis</i> were obtained.</p>","PeriodicalId":21441,"journal":{"name":"Russian Journal of Genetics","volume":"3 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140580862","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 : 2024-04-08DOI: 10.1134/s1022795424030037
N. M. Barsukov, E. S. Leonova, I. S. Zaitsev
Abstract
An increase in the leafiness of protein-rich alfalfa (Medicago) is possible not only through selection for a change in the size of the leaf blade. One of the first reports on the study of the phenomenon of the formation of additional leaflets (later called multifoliate) date back to the 1930s. This review mentions the main articles associated with the study of the trait. The leaf structure was described, and information on the correlations of multifoliate with the height, internodes, day length, and temperature was collected. The effect of germ plasm and methods of study on obtaining conflicting data was indicated. The assumptions initially made by researchers about an atavistic nature of the manifestation of the trait (and later about the presence of a recessive mutation with two additive genes regulating the expression) were considered. The method for finding an index of evaluation of multifoliate expression (proposed by Craig Sheaffer) and confirmation of a strong nature of inheritance of the trait in classical selection through a recurrent selection were demonstrated. In conclusion, the most significant genes and gene families that directly or indirectly affect the manifestation of multifoliate (including PALM1 and KNOX) were collected.
{"title":"Multifoliate Alfalfa: Its Causes and Effect","authors":"N. M. Barsukov, E. S. Leonova, I. S. Zaitsev","doi":"10.1134/s1022795424030037","DOIUrl":"https://doi.org/10.1134/s1022795424030037","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>An increase in the leafiness of protein-rich alfalfa (<i>Medicago</i>) is possible not only through selection for a change in the size of the leaf blade. One of the first reports on the study of the phenomenon of the formation of additional leaflets (later called multifoliate) date back to the 1930s. This review mentions the main articles associated with the study of the trait. The leaf structure was described, and information on the correlations of multifoliate with the height, internodes, day length, and temperature was collected. The effect of germ plasm and methods of study on obtaining conflicting data was indicated. The assumptions initially made by researchers about an atavistic nature of the manifestation of the trait (and later about the presence of a recessive mutation with two additive genes regulating the expression) were considered. The method for finding an index of evaluation of multifoliate expression (proposed by Craig Sheaffer) and confirmation of a strong nature of inheritance of the trait in classical selection through a recurrent selection were demonstrated. In conclusion, the most significant genes and gene families that directly or indirectly affect the manifestation of multifoliate (including <i>PALM1</i> and <i>KNOX</i>) were collected.</p>","PeriodicalId":21441,"journal":{"name":"Russian Journal of Genetics","volume":"319 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140580861","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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