Journal of Genetics最新文献_第10页

EMX2OS targeting IGF2BP1 represses Wilms' tumour stemness,epithelial-mesenchymal transition and metastasis. 靶向IGF2BP1的EMX2OS抑制Wilms的肿瘤干性、上皮-间质转移和转移。

IF 1.5 4区生物学

Journal of Genetics Pub Date : 2023-01-01

Hong-Mei Zhang, Ming-Yu Cui, Zhi-Hong Chen

{"title":"EMX2OS targeting IGF2BP1 represses Wilms' tumour stemness,epithelial-mesenchymal transition and metastasis.","authors":"Hong-Mei Zhang, Ming-Yu Cui, Zhi-Hong Chen","doi":"","DOIUrl":"","url":null,"abstract":"Wilms' tumour (WT) is the most typical type of renal tumour in children, which has a poor prognosis and high recurrence rate. This study explored whether lncRNA EMX2 opposite strand / antisense RNA (EMX2OS) modulated the stemness, epithelial-mesenchymal transition (EMT) and metastasis of WTcells through the interaction with insulin-like growth factor 2 mRNA-binding protein 1 (IGF2BP1). The expression levels of EMX2OS, IGF2BP1 and stem cell markers OCT4, Nanog, Sox2 and CD133 were detected by real time quantitative polymerase chain reaction (RT-qPCR). The stemness, migration and invasion of WTcells were determined by sphere formation assay, scratch and transwell assay, respectively. The levels of EMT-related proteins were detected by Western blotting. RNA pull down and RIP assays were utilized to validate the interaction between EMX2OS and IGF2BP1. The tumourigenicity of WTcells in vivo was analysed using a xenograft tumour assay. EMX2OS was downregulated in WT patients, while IGF2BP1 was upregulated. EMX2OS overexpression or IGF2BP1 knockdown suppressed WT cell sphere formation, migration and invasion. Moreover, EMX2OS could directly interact with RNA-binding protein IGF2BP1, and IGF2BP1 overexpression counteracted the inhibitory effect of EMX2OS on WT cell stemness, migration, invasion and EMT. The in vivo tumour growth, stemness and EMT were repressed by EMX2OS through the interaction with IGF2BP1. In conclusion, EMX2OS acted as a tumour suppressor for WT by interacting with IGF2BP1, which might be a novel target for WT diagnosis and therapy.","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":"10636917","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

Panmictic stock structure of milkfish (Chanos chanos,Forssål 1775) from Indian waters determined using mtDNA marker. 用mtDNA标记测定印度水域遮目鱼(Chanos Chanos, forss<s:1>， 1775)的泛群结构。

IF 1.5 4区生物学

Journal of Genetics Pub Date : 2023-01-01

Divya Merin Jose, P R Divya, Kuldeep K Lal

{"title":"Panmictic stock structure of milkfish (Chanos chanos,Forssål 1775) from Indian waters determined using mtDNA marker.","authors":"Divya Merin Jose, P R Divya, Kuldeep K Lal","doi":"","DOIUrl":"","url":null,"abstract":"Milkfish (Chanos chanos) belongs to the family Chanidae and it is a potential candidate species for aquaculture with the best biological characteristics. This study investigates the genetic diversity and population structure of C. chanos along the Indian coast using cytochrome b (cyt b) sequences of mitochondrial DNA (mtDNA). A total of 90 samples collected from five different locations across the Indian coast were sequenced for analysis using cyt b. The sequencing of a 1100-bp cyt b mtDNA fragment revealed the presence of 38 haplotypes with a haplotype diversity value of 0.835 and a nucleotide diversity value of 0.00400. The variation within and among populations accounted for about 97.33% and 2.67%, respectively. The fixation index analysis indicated that there is no significant genetic divergence among the populations from different geographical areas. Neighbour-joining tree analysis of the haplotype data showed no distinct patterns of phylogeographic structure. Results from this study indicated that there is a lack of genetic divergence between the populations of C. chanos along the Indian coast. The haplotype network showed star-like geneology which indicated the demographic expansion of the C. chanos population in these locations. The recent demographic expansion of the C. chanos population was also supported by the results of Tajima's D statistics. Results from this study can be used for planning effective strategies for the conservation and management of the C. chanos population in the wild.","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":"10643050","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

CRISPR-Cas9 F0 knockout approach using predesigned in vitro transcribed guide RNAs partially recapitulates Rx3 function in eye morphogenesis. 使用预先设计的体外转录引导rna的CRISPR-Cas9 F0敲除方法部分再现了Rx3在眼睛形态发生中的功能。

IF 1.5 4区生物学

Journal of Genetics Pub Date : 2023-01-01

Emilia Wysocka, Agata Gonicka, Savani Anbalagan

{"title":"CRISPR-Cas9 F0 knockout approach using predesigned in vitro transcribed guide RNAs partially recapitulates Rx3 function in eye morphogenesis.","authors":"Emilia Wysocka, Agata Gonicka, Savani Anbalagan","doi":"","DOIUrl":"","url":null,"abstract":"CRISPR-Cas9-based F0 knockout (KO) approach permits relatively simple and rapid generation of homozygous KOs and allows quick investigation of gene functions in zebrafish. However, F0 KO studies are largely performed using commercial synthetic guide RNAs (gRNAs) which are unaffordable by majority of the researchers. We tested (i) how effective is the CRISPR-Cas9-based F0 KO approach using in vitro transcribed gRNAs; (ii) how penetrant are the resulting phenotype at the later developmental stages and (iii) whether Coughlin's group pre-designed gRNAs are functional even without validating the gRNAs or testing for lack of SNP's in target loci. We targeted the rx3 gene that is required for the formation of the eye, a structure that exhibits robustness and can quickly recover from early phenotypes. Our results indicate that, in the majority of the samples, injection of Cas9 protein complex with four different in vitro transcribed gRNAs; targeting rx3 results in lack of eyes or disrupted eye development. Thus, the CRISPR-Cas9-based F0 KO approach using pre-designed, quadruple in vitro transcribed gRNAs can recapitulate the function of a gene at least until 5-dpf stage of larval zebrafish.","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":"10656363","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

Imputation of SNPs associated with presbycusis through linkage disequilibrium analysis in the ILDR1 gene. 通过ILDR1基因连锁不平衡分析推测与老年性痴呆相关的snp。

IF 1.5 4区生物学

Journal of Genetics Pub Date : 2023-01-01

Sergio V Flores, Alejandro Levi-Monsalve, Juan Pablo Alvarez-Lobo

引用次数: 0

Molecular characterization of de novo ring chromosome 21 in a child with seizures, growth retardation, and multiple congenital anomalies. 癫痫发作、生长迟缓和多发性先天性畸形儿童21号新生环状染色体的分子特征。

IF 1.5 4区生物学

Journal of Genetics Pub Date : 2023-01-01

Prafulla S Ambulkar, Thomas Liehr, Manish Jain, Jwalant Waghmare, Nitin Gangane, Pratibha Narang, Asoke K Pal

{"title":"Molecular characterization of de novo ring chromosome 21 in a child with seizures, growth retardation, and multiple congenital anomalies.","authors":"Prafulla S Ambulkar, Thomas Liehr, Manish Jain, Jwalant Waghmare, Nitin Gangane, Pratibha Narang, Asoke K Pal","doi":"","DOIUrl":"","url":null,"abstract":"The ring chromosome 21[r(21)] syndrome is a rare disorder, and mainly occurs as a de novo event. However, a wide variation of the phenotype has been reported in r(21) cases depending on breakpoints, loss of genetic material, and mosaicism of cells with r(21) and monosomy 21, causing copy number alterations. A 29-month-old female was referred to the centre for seizures, developmental delay, microcephaly, hypotonia, deafness, and other congenital abnormalities. Physical examination revealed short stature and multiple facial dysmorphism. She was unable to sit, walk or stand by herself. Cytogenetic study with GTG banding revealed a karyotype of mos 46,XX,r(21)(p11.1q22.12)[70]/45,XX,-21[10]/47,XX,r(21),+r(21)[1]/46,XX[10]. Additionally, molecular cytogenetics refined the breakpoints and characterized the deleted region (RP11-410P24/CHR21: 32849565-33019511) in the clone with the r(21) as ~12-14 Mb contiguous region at 21q22.12 to 21qter. The present study has accurately detected copy number alterations caused by ring chromosome formation. The basis of the UCSC Genome Browser on Human (GRCh38/hg38) analysis suggests hemizygous expression of a deleted critical region of chromosome 21 in ring chromosome cell lines. This is likely to be the underlying cause of the present phenotypes in the patient. Overall, the genotype-phenotypic correlation in r(21) cases remains widely diverse, most likely due to tissue-specific mosaicism of the 45, XX,-21 cell line.","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":"41098167","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

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