Journal of Genetics最新文献_第10页

The formate dehydrogenase enhances aluminum tolerance of tobacco. 甲酸脱氢酶能提高烟草对铝的耐受性。

IF 1.5 4区生物学

Journal of Genetics Pub Date : 2023-01-01

Yonghong Xie, Yunmin Wei, Rongrong Han, Shitian Yu, Hui Xu, Caode Jiang, Yongxiong Yu

{"title":"The formate dehydrogenase enhances aluminum tolerance of tobacco.","authors":"Yonghong Xie, Yunmin Wei, Rongrong Han, Shitian Yu, Hui Xu, Caode Jiang, Yongxiong Yu","doi":"","DOIUrl":"","url":null,"abstract":"The formate dehydrogenase (FDH) is regarded as a universal stress protein involved in various plant abiotic stress responses. This study aims to ascertain GmFDH function in conferring tolerance to aluminum (Al) stress. The bioinformatics analysis demonstrates that GmFDH from Tamba black soybean (TBS) encodes FDH. Quantitative reverse transcription-PCR (qRT-PCR) showed that GmFDH expression was induced by Al stress with a concentration-time-specific pattern. Moreover, Al stress promotes formate content and activates FDH activity. Further studies revealed that GmFDH overexpression alleviated root growth of tobacco under Al stress inhibition and reduced Al and ROS accumulation in roots. In addition, transgenic tobacco had much more root citrate exudation and much higher activity of antioxidant enzymes than wild type. Moreover, under Al stress, NtMATE and NtALS3 expression showed no changes in wild type and overexpression lines, suggesting that here the known Al-resistant mechanisms are not involved. However citrate synthase activity is higher in transgenic tobaccos than that of wild type, which might be the reason for citrate secretion increase. Thus, the increased Al tolerance of GmFDH overexpression lines is likely attributable to enhanced activities of antioxidant enzymes and promoting citrate secretion. Taken together, our findings advance understanding of higher plant Al toxicity mechanisms and suggest a possible new route towards the improvement of plant growth under Al stress.","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"102 ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41235898","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}

引用次数: 0

Remnants of SIRE1 retrotransposons in human genome? 人类基因组中SIRE1逆转录转座子的残余物?

IF 1.5 4区生物学

Journal of Genetics Pub Date : 2023-01-01

Buket Cakmak Guner, Elif Karlik, Nermin Gozukirmizi

{"title":"Remnants of SIRE1 retrotransposons in human genome?","authors":"Buket Cakmak Guner, Elif Karlik, Nermin Gozukirmizi","doi":"","DOIUrl":"","url":null,"abstract":"Evolution is unaimed changes in time that a genome is shaped by a collection of random mutations, recombination, integrations, and reorganizations. Transposable elements (TEs) are mobile fragments representing a major portion of most eukaryotic genomes, and are therefore considered as a key player in evolution. They are one of the main sources of genetic variability and have a large impact on genome structure and stability in eukaryotes. In this study, the plant SIRE1 retrotransposon insertions were demonstrated in the human genome by using barley SIRE1 interretrotransposon amplified polymorphism PCR (IRAP-PCR) primers. According to the IRAP-PCR analysis, different distribution patterns were observed for 24 participants used in this study. The polymorphism ratios of SIRE1 were calculated, and among all samples they were detected between 0 to 38%. Similarly, internal domains and LTR sequences of SIRE1 were investigated by sequencing. Partial GAG, RT and ENV gene sequences were detected in the human genome by performing sequence and bioinformatic analyses. According to the bioinformatic analysis, partial SIRE1 ENV sequences were interestingly detected in both human and chimpanzee chromosome 1. Partial SIRE1 ENV sequences in chromosome 1 were also found to be associated with neuroblastoma breakpoint family members' (NBPFs) in humans. Polymorphic TE insertions in the human genome may be an essential source of natural genetic variation with subtle effects on genome regulation, providing considerable source material for ongoing human evolution.","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"102 ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10656360","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}

引用次数: 0

Mutation spectrum and enzyme profiling of G6PD deficiency in neonates of north India: a prospective study. 印度北部新生儿G6PD缺乏症的突变谱和酶谱:一项前瞻性研究。

IF 1.5 4区生物学

Journal of Genetics Pub Date : 2023-01-01

Upasana Bhattacharyya, Preeti Deswal, Sunil Kumar Polipalli, Diksha Sharma, Manpreet Kaur, Seema Kapoor, B K Thelma

{"title":"Mutation spectrum and enzyme profiling of G6PD deficiency in neonates of north India: a prospective study.","authors":"Upasana Bhattacharyya, Preeti Deswal, Sunil Kumar Polipalli, Diksha Sharma, Manpreet Kaur, Seema Kapoor, B K Thelma","doi":"","DOIUrl":"","url":null,"abstract":"Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked disorder with well-established clinical and allelic heterogeneity and ethnic disparity. With ~390,000 annual births with G6PD deficiency in India, it emerges as the most predictable and preventable inbornmetabolic error. Disease prevalence and mutation spectrum have been reasonably reported fromcentral, western and southern parts of India and are mostly retrospective studies.Although prevalence data fromnorth India is available, there is paucity of data on the mutation spectrum and genotype-phenotype correlation (GxP). Thus, we aimed at establishing the clinical and mutation profiles for G6PD, as a part of a large prospective newborn screening study conducted between 2014 and 2016 across hospitals in Delhi, India. G6PD activity levels were measured at 24-48 h of life for ~200,000 neonates using Victor 2D and/or Genomic Screening Processor followed by confirmatory spectrophotometric analysis usingRBClysates of the respective neonates based on clinical symptoms.Asubset of 570 enzyme deficient neonates were screened formutations by polymerase chain reaction-restriction fragment length polymorphismand/or Sanger sequencing.Mediterraneanwas the most common mutation (n=318; 55.8%) with the lowest enzyme activity and most severe phenotype, followed by G6PD Orissa (n=187;32.8%); Kerala-Kalyan (n=25); Jammu (n=24);Mahidol (n=14); Chattam(n=1) andNilgiri/Coimbra (n=1).Of the 163 intramural neonates followed up, 68 developed clinical jaundice. However, no correlation was observed between jaundice and enzyme level. Notable outcome of this first ever prospective screening approach for G6PD deficiency in neonates may help in prediction of disease severity and appropriate timely management.","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"102 ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10550690","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}

引用次数: 0

A novel variant of TNNC1 associated with severe dilated cardiomyopathy causing infant mortality and stillbirth: a case of germline mosaicism. 与严重扩张型心肌病相关的 TNNC1 新型变体导致婴儿死亡和死胎：一个种系嵌合病例。

IF 1.5 4区生物学

Journal of Genetics Pub Date : 2023-01-01

Rupa Udani, Kala F Schilter, Rebecca C Tyler, Brandon A Smith, Jaime L Wendtandrae, Ulrike P Kappes, Gunter Scharer, Anna Lehman, Michelle Steinraths, Honey V Reddi

引用次数: 0

Genetic diversity analysis of volunteer wheat based on SSR markers. 基于 SSR 标记的志愿小麦遗传多样性分析。

IF 1.5 4区生物学

Journal of Genetics Pub Date : 2023-01-01

Wangcang Su, Hongle Xu, Lanlan Sun, Chuantao Lu, Renhai Wu

{"title":"Genetic diversity analysis of volunteer wheat based on SSR markers.","authors":"Wangcang Su, Hongle Xu, Lanlan Sun, Chuantao Lu, Renhai Wu","doi":"","DOIUrl":"","url":null,"abstract":"Volunteer wheat is a kind of wheat with weed characteristics, distributed widely in the main wheat-producing areas of China. It seriously damages the yield and quality of cultivated wheat. To study the genetic diversity and population structure within and between volunteer wheat and cultivated wheat (Triticum aestivum L.), 195 volunteer wheat seeds and 29 cultivated wheat seeds were analysed based on 16 pairs of highly-polymorphic microsatellite simple sequence repeats (SSR) primers and a microchip capillary electrophoresis (MCE) detection system. A total of 110 polymorphic alleles were detected by MCE with each pair of primers identifying 2-15 alleles with an average of 6.875 alleles. The polymorphic information content (PIC) ranged from 0.1089 to 0.7843, with an average of 0.5613. Genetic diversity arguments from 224 samples showed that the volunteer wheat was more varied than cultivated wheat. Based on the SSR information, the 224 samples were classified into seven groups, which corresponded to the volunteer wheats and cultivated wheats through principal coordinates analysis (PCA). We propose that the volunteer wheat and cultivated wheat have rather distant phylogenetic relationships. Hence, it is important for wheat breeding to study the genetic relationship between volunteer wheat and cultivated wheat.","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"102 ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138805331","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}

引用次数: 0

Relationship between leptin gene variants (-2548G>A and 19A>G) and obesity among north Indian Punjabi population. 北印度旁遮普人群瘦素基因变异(-2548G>A和19A>G)与肥胖的关系

IF 1.5 4区生物学

Journal of Genetics Pub Date : 2023-01-01

Harjit Kaur, Veena Bains, Tanmayi Sharma, Pathma Muthukottiappan, Badaruddoza

{"title":"Relationship between leptin gene variants (-2548G>A and 19A>G) and obesity among north Indian Punjabi population.","authors":"Harjit Kaur, Veena Bains, Tanmayi Sharma, Pathma Muthukottiappan, Badaruddoza","doi":"","DOIUrl":"","url":null,"abstract":"Leptin is an adipocyte-secreted hormone which is involved in the regulation of food intake and energy expenditure. To ascertain the potential association between leptin gene (LEP) -2548G>A and 19A>G polymorphisms and obesity risk in the north Indian Punjabi population, a group of 250 obese and 300 control subjects were randomly selected. Both the polymorphisms in the LEP gene -2548G>A (GG vs AA: odds ratio (OR), 1.44; 95% confidence interval (CI), 0.87-2.38) and 19 A>G (AA vs GG: OR, 2.31; 95% CI, 1.32-4.05) were significantly associated with an increased risk of obesity. Logistic regression analysis revealed the significant associations in a recessive genetic model (OR=2.061; 95% CI: 1.14-3.73) and (OR= 2.57; 95% CI: 1.43-4.63) respectively for -2548G>A and 19A>G polymorphisms after adjusting for various covariates of obesity, thus, confirming the major role of anthropometric and environmental factors in this population. Haplotype analysis identified that G-G haplotype conferred approximately two-fold increased obesity risk (P=0.002). The -2548A allele and the selected obesity related covariates accounted for 53%, 26% and 30.2% variability in body mass index (BMI), waist-to-hip ratio (WHR) and triglycerides (TG), respectively. Similarly, the 19G allele contributed 75%, 27% and 36% of the variability in the waist circumference (W-crc), and WHR and TG levels, respectively in the obese individuals. Therefore the present study has revealed that both LEP -2548G>A and 19A>G polymorphisms have an important role in a individual's susceptibility towards obesity and thus could serve as relevant obesity markers in the north Indian Punjabi population.","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"102 ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9668321","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}

引用次数: 0

Role of cryptic rearrangements of human chromosomes in the aetiology of schizophrenia. 人类染色体的隐性重排在精神分裂症病因学中的作用。

IF 1.5 4区生物学

Journal of Genetics Pub Date : 2023-01-01

Livia Jurisova, Roman Solc

{"title":"Role of cryptic rearrangements of human chromosomes in the aetiology of schizophrenia.","authors":"Livia Jurisova, Roman Solc","doi":"","DOIUrl":"","url":null,"abstract":"Schizophrenia (SZ) is a highly inherited disease that affects ~0.5% of the population. The genetic and environmental factors are involved in its aetiology and they interact with each other. Combination of symptoms is unique to each patient, the disease seriously interferes with the ability to function in society and affects the mental state of the patient. In most patients, the first manifestations of SZ appear during the adolescence or early adulthood. The hypothesis that SZ origin in impaired development of the nervous system is currently widely accepted. Some studies have identified several genetic and environmental factors that increase the risk of the disease manifestation, but none of them can be considered as the only cause of SZ. The genetics of the disease is complex and in last two decades it is assumed that the cryptic rearrangements could be one of its causes. Cryptic rearrangements (microdeletions and microduplications) are the chromosomal rearrangements smaller than 3-5 Mb. Their discovery was conditioned by the development of molecular genetic and molecular cytogenetic techniques. The aberrations affect one or more genes and change the gene dose. In this article, we present the rearrangements of the regions of human chromosomes more closely associated with the onset and development of SZ. Next, the candidate genes will be presented together with their inclusion in the context of theories trying to explain the origin of SZ through some important factors (e.g. action of dopamine or glutamate or GABA, formation of dendrites and neuronal synapses, etc.).","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"102 ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9685636","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}

引用次数: 0

Association of ABCA1 R219K polymorphism and telomere length in a Chinese rural population: possible linking to systemic inflammation. 中国农村人群ABCA1 R219K多态性与端粒长度的关联:可能与全身性炎症有关

IF 1.5 4区生物学

Journal of Genetics Pub Date : 2023-01-01

Shutan Liao, Qing Zhou, Yang Zhang

{"title":"Association of ABCA1 R219K polymorphism and telomere length in a Chinese rural population: possible linking to systemic inflammation.","authors":"Shutan Liao, Qing Zhou, Yang Zhang","doi":"","DOIUrl":"","url":null,"abstract":"The ATP-binding cassette transporter A1 (ABCA1) gene polymorphisms have been shown to be associated with various human diseases and pathological conditions such as cardiovascular disease and Alzheimer's disease. However, these associations remain unclear and inconclusive. Interestingly, short telomere length was also observed in these diseases. In the present study, our aims were to investigate the interaction between two selected ABCA1 polymorphisms (-565C/T and R219K) and telomere length in a Chinese rural population including 1629 subjects and explore the underlying mechanisms. Genotyping was conducted using Taqman SNP Genotyping Assays. Mean relative leukocyte telomere length was measured using monochrome multiplex quantitative PCR method. We found that the telomere length of R219K RR genotype was significantly shorter than RK or KK genotypes (1.242 ± 0.198 vs 1.271 ± 0.207, P = 0.027 and 1.242 ± 0.198 vs 1.276 ± 0.209, P = 0.021, respectively). While the neutrophil to lymphocyte ratio (NLR) of R219K RR genotype was significantly higher than KK genotype (1.929 ± 0.826 vs 1.768 ± 0.893, P = 0.019). In the general linear models after adjustments for confounding factors, the KK and RK genotypes were both significantly associated with telomere length and NLR. A significant association was also observed for K allele carrier genotypes when compared with RR genotype for telomere length and NLR. In conclusion, the R219K polymorphism of ABCA1 was independently associated with telomere length. R219K K allele could be protective against shortening of telomeres and inflammation.","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"102 ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9550122","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}

引用次数: 0

Diagnosis of prenatal 22q11.2 duplication syndrome: a two-case study. 产前22q11.2重复综合征的诊断:两例研究

IF 1.5 4区生物学

Journal of Genetics Pub Date : 2023-01-01

Hening Li, Yanfei Gong, Jingyi Chen, Liyun Xie, Bojie Li, Yanghai Xiang, Meihua Xie

{"title":"Diagnosis of prenatal 22q11.2 duplication syndrome: a two-case study.","authors":"Hening Li, Yanfei Gong, Jingyi Chen, Liyun Xie, Bojie Li, Yanghai Xiang, Meihua Xie","doi":"","DOIUrl":"","url":null,"abstract":"The objective of the study was to perform the prenatal diagnosis of two foetuses with 22q11.2 duplication for 2.5 Mb after noninvasive prenatal testing (NIPT), and to explore the prenatal diagnosis and genetic characteristics of these foetuses. After amniocentesis, each foetus was diagnosed through karyotype analysis and single-nucleotide polymorphism array (SNP-array), and copy number variation using shotgun sequencing (CNV-seq) was carried out on each mother's peripheral blood for comparative analysis. Both pregnant woman 1 and pregnant woman 2 had foetal amniotic fluid chromosomal karyotypes of 46, XN. The SNP-array result for foetus 1 was arr[hg19] 22q11.21(18,648,856-21,800,471) x3; namely, 22q11.2 had a 3.1 Mb repeat, and the SNP-array result of foetus 2 was arr[hg19]22q11.2(18,648,855-21,464,764) x3; there was a 2.4 Mb repeat of 22q11.2. The CNV-Seq result of the peripheral blood of pregnant woman 1 was seq[hg19]22q11.2(18,953,139-21,449,967) x3; namely, in this mother's 22q11.2 region, there was ~2.5 Mb of duplicate fragment that was pathogenic to CNV. We confirmed that case 1 was inherited from the mother by CNV-seq. In both cases, however, there were key region deletions, including 41 OMIM genes such as CLTCL1, HIRA and TBX1. Both SNP-array and CNV-seq can effectively diagnose 22q11.2 duplication syndrome and clarify its fracture site and involved genes, which may facilitate understanding of the genotype and phenotype correlations.","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"102 ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10636918","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}

引用次数: 0

Mysteries in our genome. 我们基因组中的奥秘。

IF 1.5 4区生物学

Journal of Genetics Pub Date : 2023-01-01

Durgadas P Kasbekar

引用次数: 0