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Comparative transcriptomic analysis of ovary and testis reveals sex-related genes in roughskin sculpin Trachidermus fasciatus
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作者 Dongxiu XUE Sudong XIA +2 位作者 Tengfei XING Yuqian GAO Jinxian LIU 《Journal of Oceanology and Limnology》 SCIE CAS CSCD 2024年第5期1673-1682,共10页
The mechanisms underlying sex determination and differentiation have long intrigued researchers in the fields of development and evolutionary biology.The roughskin sculpin(Trachidermus fasciatus Heckel),displaying sex... The mechanisms underlying sex determination and differentiation have long intrigued researchers in the fields of development and evolutionary biology.The roughskin sculpin(Trachidermus fasciatus Heckel),displaying sexual dimorphism,provides an ideal model for studying the mechanisms.However,both genetic and genomic information concerning sex determination and differentiation,such as gonadal transcriptome data in roughskin sculpin,are lacking.Here,we present the first gonadal transcriptomes of roughskin sculpin and identify sex-related genes.We identified 8531 differentially expressed genes(DEGs),among them 4065 were upregulated in the ovary and 4466 upregulated in the testis.Several sex-related gene ontology(GO)terms were enriched in ovary-biased genes,including“binding of sperm to zona pellucida”,“egg coat formation”,“positive regulation of acrosome reaction”,“cell division”,and“cell cycle”,while the GO terms such as“spermatogenesis”,“sperm axoneme assembly”,“cilium assembly”,“cilium movement”,and“cilium movement involved in cell motility”were enriched in testis-biased genes.Moreover,six KEGG pathways were significantly enriched in the ovary,whereas only one was enriched in the testis.Of these DEGs,40 sex-related genes were identified,which including 26 testis-biased genes(such as Dmrtb 1,Gsdf,Sox 9 b,Wnt 4 b,Tcp 11 l 2,and Efhb),and 14 ovary-biased genes(such as Cyp 19 a 1 a,Foxh 1,Foxr 1,Gdf 3,Hsd 17 b 12,and Igf 2 bp 3).This gonadal transcript dataset would broaden our understanding of sex determination and differentiation mechanisms in roughskin sculpin,expand the genomic database,support future studies on sex-related gene functions,and facilitate molecular biology research into roughskin sculpin. 展开更多
关键词 Trachidermus fasciatus TRANSCRIPTOME OVARY TESTIS sex-related gene
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Expression of Sex-Related Genes in Chicken Embryos During Male-to-Female Sex Reversal Exposure to Diethylstilbestrol 被引量:2
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作者 FANG Li-xiu XIN Rui +1 位作者 CHE Yi XU Shi-qing 《Journal of Integrative Agriculture》 SCIE CAS CSCD 2013年第1期127-135,共9页
Sex emerges out of a delicate dance between a variety of promale, anti-male, and possibly profemale genes. To investigate the role that sex-related genes play in sex determination and gonadal differentiation of fowl, ... Sex emerges out of a delicate dance between a variety of promale, anti-male, and possibly profemale genes. To investigate the role that sex-related genes play in sex determination and gonadal differentiation of fowl, we constructed a male-to- female sex-reversal model of chick induced by diethylstilbestrol (DES) at onset of incubation (E0). The results of semi- quantitative PCR showed that the expression of Sf1, the orphan nuclear receptor steroidogenic factor-1 gene, was put forward from E7d to E5d and up-regulated during E5-7d; the Dmrt1, the double sex and the Mab-3 related to transcription factor 1 gene, was down-regulated during E3-7d. Meanwhile, anti-Müllerian hormone gene (Amh) expressed at a similar level in the genetic females and sex-reversal females before E7d, while no expression products of the three female-specific genes Wpkci, Fet1 and Foxl2 were detected in male-to-female embryos. These findings suggest that the expression of some certain sex-related genes, induced by the exogenous estrogen during period of sex determination and gonadal differentiation, results in the male-to-female sex reversal. Moreover, high activity of Sf1 gene during E5-7d might be related to the profemale process, while low activity of Dmrt1 gene during E3-5d might be anti-male. The expression activity of Amh gene might only contribute to the promale process after E7d, however, it is possibly not an anti-female gene in chick embryos. 展开更多
关键词 sex reversal DIETHYLSTILBESTROL CHICKEN sex determination sexual differentiation sex-related gene
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Expression profiles of sex-related genes in gonads of genetic male Takifugu rubripes after 17β-estradiol immersion 被引量:2
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作者 HU Peng LIU Bin +3 位作者 MA Qian LIU Shufang LIU Xinfu ZHUANG Zhimeng 《Journal of Oceanology and Limnology》 SCIE CAS CSCD 2019年第3期1113-1124,共12页
Estradiol treatment during early life stages of tiger puffer Takifugu rubripes induces feminization in genetic males.However,the ovaries in genetic males may revert to testes once estradiol treatment is halted.Therefo... Estradiol treatment during early life stages of tiger puffer Takifugu rubripes induces feminization in genetic males.However,the ovaries in genetic males may revert to testes once estradiol treatment is halted.Therefore studies should investigate molecular mechanisms underlying ovary-to-testis recovery in genetic males after treatment.In the present study,tiger puffer were exposed to 10,and 100μg/L 17β-estradiol(E 2)from 15 to 100 days post-hatching(dph),then gonad phenotypes and expression profi les of six sex-related genes(cyp19a,foxl2,dmrt1,amh,sox9a,and sox9b)were characterized after the exposure.Results showed that both 10 and 100μg/L E2 induced ovarian development in genetic males at 100 dph.However,all ovaries induced by 10μg/L E2 first developed into intersexual gonads and subsequently reverted to testes after the exposure.As for treatment of 100μg/L E2,while the rest of the ovaries maintained morphological stability,percentages of intersexual gonads reached 38%-57%,and none were reverted to testes.Increased mRNA levels of cyp19a,foxl2 and sox9b and decreased mRNA levels of dmrt1,amh,and sox9a were observed during the ovarian development in genetic males.While contrary gene expression profiles were detected during ovary-to-testis transformation.The mRNA levels of all the six genes were increased during the development of intersexual gonads.These results indicated that up-regulation of dmrt1,amh and sox9a is associated with initial ovary-to-intersexual transformation,and suppression of foxl2,cyp19a and sox9b is essential for complete ovary-to-testis recovery in genetic males.This research will help to trace the molecular processes underlying gonadal transformation in teleosts. 展开更多
关键词 TAKIFUGU rubripes ovary-to-testis recovery sex-related geneS mRNA expression
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Corrigendum to: Expression profiles of sex-related genes in gonads of genetic male Takifugu rubripes after 17β-estradiol immersion
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作者 HU Peng LIU Bin +3 位作者 MA Qian LIU Shufang LIU Xinfu ZHUANG Zhimeng 《Journal of Oceanology and Limnology》 SCIE CAS CSCD 2019年第5期1789-1789,共1页
The original version of this article unfortunately contained a mistake. The publication year in the header on the first page (p.1113) of this article was incorrect. The corrected publication year is given below:
关键词 sex-related geneS TAKIFUGU rubripes 17Β-ESTRADIOL IMMERSION
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Sex-related gene and sex identification of Crested Ibis Nipponia nippon (Ciconiifor-mes: Threskiornithidae) 被引量:3
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作者 LI Ming DING Changqing +3 位作者 WEI Fuwen MENG Shijie XI Yongmei LU Baozhong 《Chinese Science Bulletin》 SCIE EI CAS 2001年第8期669-671,共3页
The Crested Ibis (Nipponia nippon) is a critical endangered species of the world. At present, a reintroduction program will be conducted to save this species essentially. However, because the Crested Ibise is a sexual... The Crested Ibis (Nipponia nippon) is a critical endangered species of the world. At present, a reintroduction program will be conducted to save this species essentially. However, because the Crested Ibise is a sexual alike bird, it is very difficult to identify the sex from the morphological character. In order to identify the sex easily and select the right individuals for captive breeding and reintroduction, the sex related gene on W chromosome was amplified and the sex of three Crested Ibises were also identified in the present study. The 262bp fragment was also sequenced, and we found that there were 13 different nucleotide sites with 2.25 of transition/transversion based on the comparison with that of the Oriental White Stork. The sequence will also provide a theoretic base for further designing specific primer for sex related gene in the Crested Ibis. 展开更多
关键词 Crested IBIS Nipponia NIPPON sex-related gene SEX identification.
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Genetic dissection and validation of a major QTL for grain weight on chromosome 3B in bread wheat(Triticum aestivum L.) 被引量:2
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作者 Simin Liao Zhibin Xu +7 位作者 Xiaoli Fan Qiang Zhou Xiaofeng Liu Cheng Jiang Liangen Chen Dian Lin Bo Feng Tao Wang 《Journal of Integrative Agriculture》 SCIE CSCD 2024年第1期77-92,共16页
Grain weight is one of the key components of wheat(Triticum aestivum L.)yield.Genetic manipulation of grain weight is an efficient approach for improving yield potential in breeding programs.A recombinant inbred line(... Grain weight is one of the key components of wheat(Triticum aestivum L.)yield.Genetic manipulation of grain weight is an efficient approach for improving yield potential in breeding programs.A recombinant inbred line(RIL)population derived from a cross between W7268 and Chuanyu 12(CY12)was employed to detect quantitative trait loci(QTLs)for thousand-grain weight(TGW),grain length(GL),grain width(GW),and the ratio of grain length to width(GLW)in six environments.Seven major QTLs,QGl.cib-2D,QGw.cib-2D,QGw.cib-3B,QGw.cib-4B.1,QGlw.cib-2D.1,QTgw.cib-2D.1 and QTgw.cib-3B.1,were consistently identified in at least four environments and the best linear unbiased estimation(BLUE)datasets,and they explained 2.61 to 34.85%of the phenotypic variance.Significant interactions were detected between the two major TGW QTLs and three major GW loci.In addition,QTgw.cib-3B.1 and QGw.cib-3B were co-located,and the improved TGW at this locus was contributed by GW.Unlike other loci,QTgw.cib-3B.1/QGw.cib-3B had no effect on grain number per spike(GNS).They were further validated in advanced lines using Kompetitive Allele Specific PCR(KASP)markers,and a comparison analysis indicated that QTgw.cib-3B.1/QGw.cib-3B is likely a novel locus.Six haplotypes were identified in the region of this QTL and their distribution frequencies varied between the landraces and cultivars.According to gene annotation,spatial expression patterns,ortholog analysis and sequence variation,the candidate gene of QTgw.cib-3B.1/QGw.cib-3B was predicted.Collectively,the major QTLs and KASP markers reported here provide valuable information for elucidating the genetic architecture of grain weight and for molecular marker-assisted breeding in grain yield improvement. 展开更多
关键词 thousand-grain weight QTL mapping haplotype analysis candidate gene
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A review of the literature on the use of CRISPR/Cas9 gene therapy to treat hepatocellular carcinoma 被引量:1
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作者 ELHAM AMJAD RAFAELE PEZZANI BABAK SOKOUTI 《Oncology Research》 SCIE 2024年第3期439-461,共23页
Noncoding RNAs instruct the Cas9 nuclease to site speifillyl cleave DNA in the CRISPR/Cas9 system.Despite the high incidence of hepatocellular carcinoma(HCC),the patient's outcome is poor.As a result of the emerge... Noncoding RNAs instruct the Cas9 nuclease to site speifillyl cleave DNA in the CRISPR/Cas9 system.Despite the high incidence of hepatocellular carcinoma(HCC),the patient's outcome is poor.As a result of the emergence of therapeutic resistance in HCC patients,dlinicians have faced difficulties in treating such tumor.In addition,CRISPR/Cas9 screens were used to identify genes that improve the dlinical response of HCC patients.It is the objective of this article to summarize the current understanding of the use of the CRISPR/Cas9 system for the treatment of cancer,with a particular emphasis on HCC as part of the current state of knowledge.Thus,in order to locate recent developments in oncology research,we examined both the Scopus database and the PubMed database.The ability to selectively interfere with gene expression in combinatorial CRISPR/Cas9 screening can lead to the discovery of new effective HCC treatment regimens by combining clinically approved drugs.Drug resistance can be overcome with the help of the CRISPR/Cas9 system.HCC signature genes and resistance to treatment have been uncovered by genome-scale CRISPR activation screening although this method is not without limitations.It has been extensively examined whether CRISPR can be used as a tool for disease research and gene therapy.CRISPR and its applications to tumor research,particularly in HCC,are examined in this study through a review of the literature. 展开更多
关键词 CRISPR/Cas9 system gene therapy TUMOR Hepatocellular carcinoma Liver cancer gene editing
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Genetically modified non-human primate models for research on neurodegenerative diseases 被引量:2
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作者 Ming-Tian Pan Han Zhang +1 位作者 Xiao-Jiang Li Xiang-Yu Guo 《Zoological Research》 SCIE CSCD 2024年第2期263-274,共12页
Neurodegenerative diseases(NDs)are a group of debilitating neurological disorders that primarily affect elderly populations and include Alzheimer's disease(AD),Parkinson's disease(PD),Huntington's disease(... Neurodegenerative diseases(NDs)are a group of debilitating neurological disorders that primarily affect elderly populations and include Alzheimer's disease(AD),Parkinson's disease(PD),Huntington's disease(HD),and amyotrophic lateral sclerosis(ALS).Currently,there are no therapies available that can delay,stop,or reverse the pathological progression of NDs in clinical settings.As the population ages,NDs are imposing a huge burden on public health systems and affected families.Animal models are important tools for preclinical investigations to understand disease pathogenesis and test potential treatments.While numerous rodent models of NDs have been developed to enhance our understanding of disease mechanisms,the limited success of translating findings from animal models to clinical practice suggests that there is still a need to bridge this translation gap.Old World nonhuman primates(NHPs),such as rhesus,cynomolgus,and vervet monkeys,are phylogenetically,physiologically,biochemically,and behaviorally most relevant to humans.This is particularly evident in the similarity of the structure and function of their central nervous systems,rendering such species uniquely valuable for neuroscience research.Recently,the development of several genetically modified NHP models of NDs has successfully recapitulated key pathologies and revealed novel mechanisms.This review focuses on the efficacy of NHPs in modeling NDs and the novel pathological insights gained,as well as the challenges associated with the generation of such models and the complexities involved in their subsequent analysis. 展开更多
关键词 NEURODEgeneRATION Non-human primate Macaque monkey Animal model gene modification
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Wilm′s tumor gene1肽疫苗Galinpepimut-S在肿瘤免疫治疗中的应用
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作者 高娜 梁平 +3 位作者 单彬 高亚乾 尹金妥 冯锐 《中国药业》 2024年第3期128-128,I0001-I0004,共5页
目的为Wilm′s tumor gene1(WT1)肽疫苗Galinpepimut-S(GPS)用于肿瘤免疫治疗的后续研究提供参考。方法采用计算机检索中国知网、PubMed等数据库自建库起至2022年12月的肿瘤免疫治疗相关文献,总结GPS在肿瘤免疫治疗中的应用现状。结果GP... 目的为Wilm′s tumor gene1(WT1)肽疫苗Galinpepimut-S(GPS)用于肿瘤免疫治疗的后续研究提供参考。方法采用计算机检索中国知网、PubMed等数据库自建库起至2022年12月的肿瘤免疫治疗相关文献,总结GPS在肿瘤免疫治疗中的应用现状。结果GPS能激发自身免疫系统,对WT1抗原产生强烈免疫反应而发挥抗肿瘤作用,在卵巢癌、恶性胸膜间皮瘤、急性髓系白血病、多发性骨髓瘤的治疗中均显示出较好的疗效。结论以GPS为代表的肿瘤疫苗是未来肿瘤治疗的重要方向,需进一步进行临床研究,以获取更多数据。 展开更多
关键词 Wilm′s tumor gene1肽疫苗 Galinpepimut-S 免疫治疗 新生抗原 肿瘤疫苗
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AMME chromosomal region gene 1基因变异矮小相关综合征一例及文献复习
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作者 王小红 杨海花 +2 位作者 高静 陈永兴 卫海燕 《中国医学工程》 2024年第2期66-69,共4页
目的探讨1例身材矮小、面中部发育不全患儿的病因,以提高临床医师对特殊矮小综合征的认识。方法收集1例身材矮小、面中部发育不全患儿的临床资料,对患儿及父母行基因检测,并给予患儿常规治疗、随访。结果结合患儿特殊面容及基因检测,诊... 目的探讨1例身材矮小、面中部发育不全患儿的病因,以提高临床医师对特殊矮小综合征的认识。方法收集1例身材矮小、面中部发育不全患儿的临床资料,对患儿及父母行基因检测,并给予患儿常规治疗、随访。结果结合患儿特殊面容及基因检测,诊断为AMMECR1基因变异矮小相关综合征,结合文献复习总结AMMECR1基因变异矮小相关综合征特点。结论AMMECR1基因变异矮小相关综合征是一种罕见的X连锁遗传性疾病,临床主要表现为身材矮小、运动语言落后、肌张力减低、听力损失、面中部发育不全,部分存在心脏改变、腭裂、骨骼改变及椭圆形红细胞增多症、智力落后和肾钙质沉着症。该文报道1例AMMECR1基因新变异引起身材矮小、面中部发育不全患儿的病例资料,结合特殊面容及基因检测,诊断为AMMECR1基因变异矮小相关综合征。AMMECR1基因变异矮小相关综合征是一种罕见的X连锁遗传性疾病,本文初步概括其特点,并结合文献进行分析,以提高临床医师对AMMECR1基因变异矮小相关综合征的诊治。 展开更多
关键词 AMMECR1基因 身材矮小 面中部发育不全 发育迟缓 Xq22.3-q23微缺失
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Identification of hub genes associated with Helicobacter pylori infection and type 2 diabetes mellitus:A pilot bioinformatics study 被引量:1
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作者 Han Chen Guo-Xin Zhang Xiao-Ying Zhou 《World Journal of Diabetes》 SCIE 2024年第2期170-185,共16页
BACKGROUND Helicobacter pylori(H.pylori)infection is related to various extragastric diseases including type 2 diabetes mellitus(T2DM).However,the possible mechanisms connecting H.pylori infection and T2DM remain unkn... BACKGROUND Helicobacter pylori(H.pylori)infection is related to various extragastric diseases including type 2 diabetes mellitus(T2DM).However,the possible mechanisms connecting H.pylori infection and T2DM remain unknown.AIM To explore potential molecular connections between H.pylori infection and T2DM.METHODS We extracted gene expression arrays from three online datasets(GSE60427,GSE27411 and GSE115601).Differentially expressed genes(DEGs)commonly present in patients with H.pylori infection and T2DM were identified.Hub genes were validated using human gastric biopsy samples.Correlations between hub genes and immune cell infiltration,miRNAs,and transcription factors(TFs)were further analyzed.RESULTS A total of 67 DEGs were commonly presented in patients with H.pylori infection and T2DM.Five significantly upregulated hub genes,including TLR4,ITGAM,C5AR1,FCER1G,and FCGR2A,were finally identified,all of which are closely related to immune cell infiltration.The gene-miRNA analysis detected 13 miRNAs with at least two gene cross-links.TF-gene interaction networks showed that TLR4 was coregulated by 26 TFs,the largest number of TFs among the 5 hub genes.CONCLUSION We identified five hub genes that may have molecular connections between H.pylori infection and T2DM.This study provides new insights into the pathogenesis of H.pylori-induced onset of T2DM. 展开更多
关键词 Helicobacter pylori Type 2 diabetes mellitus Bioinformatics analysis Differentially expressed genes Hub genes
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RNA sequencing of exosomes secreted by fibroblast and Schwann cells elucidates mechanisms underlying peripheral nerve regeneration 被引量:1
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作者 Xinyang Zhou Yehua Lv +8 位作者 Huimin Xie Yan Li Chang Liu Mengru Zheng Ronghua Wu Songlin Zhou Xiaosong Gu Jingjing Li Daguo Mi 《Neural Regeneration Research》 SCIE CAS CSCD 2024年第8期1812-1821,共10页
Exosomes exhibit complex biological functions and mediate a variety of biological processes,such as promoting axonal regeneration and functional recove ry after injury.Long non-coding RNAs(IncRNAs)have been reported t... Exosomes exhibit complex biological functions and mediate a variety of biological processes,such as promoting axonal regeneration and functional recove ry after injury.Long non-coding RNAs(IncRNAs)have been reported to play a crucial role in axonal regeneration.Howeve r,the role of the IncRNA-microRNAmessenger RNA(mRNA)-competitive endogenous RNA(ceRNA)network in exosome-mediated axonal regeneration remains unclear.In this study,we performed RNA transcriptome sequencing analysis to assess mRNA expression patterns in exosomes produced by cultured fibroblasts(FC-EXOs)and Schwann cells(SCEXOs).Diffe rential gene expression analysis,Gene Ontology analysis,Kyoto Encyclopedia of Genes and Genomes analysis,and protein-protein intera ction network analysis were used to explo re the functions and related pathways of RNAs isolated from FC-EXOs and SC-EXOs.We found that the ribosome-related central gene Rps5 was enriched in FC-EXOs and SC-EXOs,which suggests that it may promote axonal regeneration.In addition,using the miRWalk and Starbase prediction databases,we constructed a regulatory network of ceRNAs targeting Rps5,including 27 microRNAs and five IncRNAs.The ceRNA regulatory network,which included Ftx and Miat,revealed that exsosome-derived Rps5 inhibits scar formation and promotes axonal regeneration and functional recovery after nerve injury.Our findings suggest that exosomes derived from fibro blast and Schwann cells could be used to treat injuries of peripheral nervous system. 展开更多
关键词 ceRNA network EXOSOMES fibroblast cells gene Ontology(GO) Kyoto Encyclopedia of genes and Genomes(KEGG) protein-protein interaction(PPI)networks RNA-seq Schwann cells
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Mining elite loci and candidate genes for root morphology-related traits at the seedling stage by genome-wide association studies in upland cotton(Gossypium hirsutum L.) 被引量:1
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作者 Huaxiang Wu Xiaohui Song +3 位作者 Muhammad Waqas-Amjid Chuan Chen Dayong Zhang Wangzhen Guo 《Journal of Integrative Agriculture》 SCIE CAS CSCD 2024年第10期3406-3418,共13页
Root system architecture plays an essential role in water and nutrient acquisition in plants,and it is significantly involved in plant adaptations to various environmental stresses.In this study,a panel of 242 cotton ... Root system architecture plays an essential role in water and nutrient acquisition in plants,and it is significantly involved in plant adaptations to various environmental stresses.In this study,a panel of 242 cotton accessions was collected to investigate six root morphological traits at the seedling stage,including main root length(MRL),root fresh weight(RFW),total root length(TRL),root surface area(RSA),root volume(RV),and root average diameter(AvgD).The correlation analysis of the six root morphological traits revealed strong positive correlations of TRL with RSA,as well as RV with RSA and AvgD,whereas a significant negative correlation was found between TRL and AvgD.Subsequently,a genome-wide association study(GWAS)was performed using the root phenotypic and genotypic data reported previously for the 242 accessions using 56,010 single nucleotide polymorphisms(SNPs)from the CottonSNP80K array.A total of 41 quantitative trait loci(QTLs)were identified,including nine for MRL,six for RFW,nine for TRL,12 for RSA,12 for RV and two for AvgD.Among them,eight QTLs were repeatedly detected in two or more traits.Integrating these results with a transcriptome analysis,we identified 17 candidate genes with high transcript values of transcripts per million(TPM)≥30 in the roots.Furthermore,we functionally verified the candidate gene GH_D05G2106,which encodes a WPP domain protein 2in root development.A virus-induced gene silencing(VIGS)assay showed that knocking down GH_D05G2106significantly inhibited root development in cotton,indicating its positive role in root system architecture formation.Collectively,these results provide a theoretical basis and candidate genes for future studies on cotton root developmental biology and root-related cotton breeding. 展开更多
关键词 cotton root-morphology traits quantitative trait loci candidate genes GWAS
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Genetic and epigenetic targets of natural dietary compounds as anti-Alzheimer's agents 被引量:1
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作者 Willian Orlando Castillo-Ordoñez Nohelia Cajas-Salazar Mayra Alejandra Velasco-Reyes 《Neural Regeneration Research》 SCIE CAS CSCD 2024年第4期846-854,共9页
Alzheimer’s disease is a progressive neurodegenerative disorder and the most common cause of dementia that principally affects older adults.Pathogenic factors,such as oxidative stress,an increase in acetylcholinester... Alzheimer’s disease is a progressive neurodegenerative disorder and the most common cause of dementia that principally affects older adults.Pathogenic factors,such as oxidative stress,an increase in acetylcholinesterase activity,mitochondrial dysfunction,genotoxicity,and neuroinflammation are present in this syndrome,which leads to neurodegeneration.Neurodegenerative pathologies such as Alzheimer’s disease are considered late-onset diseases caused by the complex combination of genetic,epigenetic,and environmental factors.There are two main types of Alzheimer’s disease,known as familial Alzheimer’s disease(onset<65 years)and late-onset or sporadic Alzheimer’s disease(onset≥65 years).Patients with familial Alzheimer’s disease inherit the disease due to rare mutations on the amyloid precursor protein(APP),presenilin 1 and 2(PSEN1 and PSEN2)genes in an autosomaldominantly fashion with closely 100%penetrance.In contrast,a different picture seems to emerge for sporadic Alzheimer’s disease,which exhibits numerous non-Mendelian anomalies suggesting an epigenetic component in its etiology.Importantly,the fundamental pathophysiological mechanisms driving Alzheimer’s disease are interfaced with epigenetic dysregulation.However,the dynamic nature of epigenetics seems to open up new avenues and hope in regenerative neurogenesis to improve brain repair in Alzheimer’s disease or following injury or stroke in humans.In recent years,there has been an increase in interest in using natural products for the treatment of neurodegenerative illnesses such as Alzheimer’s disease.Through epigenetic mechanisms,such as DNA methylation,non-coding RNAs,histone modification,and chromatin conformation regulation,natural compounds appear to exert neuroprotective effects.While we do not purport to cover every in this work,we do attempt to illustrate how various phytochemical compounds regulate the epigenetic effects of a few Alzheimer’s disease-related genes. 展开更多
关键词 Alzheimer’s disease EPIgeneTICS genes METHYLATION natural products
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Screening biomarkers for spinal cord injury using weighted gene co-expression network analysis and machine learning 被引量:5
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作者 Xiaolu Li Ye Yang +3 位作者 Senming Xu Yuchang Gui Jianmin Chen Jianwen Xu 《Neural Regeneration Research》 SCIE CAS CSCD 2024年第12期2723-2734,共12页
Immune changes and inflammatory responses have been identified as central events in the pathological process of spinal co rd injury.They can greatly affect nerve regeneration and functional recovery.However,there is s... Immune changes and inflammatory responses have been identified as central events in the pathological process of spinal co rd injury.They can greatly affect nerve regeneration and functional recovery.However,there is still limited understanding of the peripheral immune inflammato ry response in spinal cord inju ry.In this study.we obtained microRNA expression profiles from the peripheral blood of patients with spinal co rd injury using high-throughput sequencing.We also obtained the mRNA expression profile of spinal cord injury patients from the Gene Expression Omnibus(GEO)database(GSE151371).We identified 54 differentially expressed microRNAs and 1656 diffe rentially expressed genes using bioinformatics approaches.Functional enrichment analysis revealed that various common immune and inflammation-related signaling pathways,such as neutrophil extracellular trap formation pathway,T cell receptor signaling pathway,and nuclear factor-κB signal pathway,we re abnormally activated or inhibited in spinal cord inju ry patient samples.We applied an integrated strategy that combines weighted gene co-expression network analysis,LASSO logistic regression,and SVM-RFE algorithm and identified three biomarke rs associated with spinal cord injury:ANO10,BST1,and ZFP36L2.We verified the expression levels and diagnostic perfo rmance of these three genes in the original training dataset and clinical samples through the receiver operating characteristic curve.Quantitative polymerase chain reaction results showed that ANO20 and BST1 mRNA levels were increased and ZFP36L2 mRNA was decreased in the peripheral blood of spinal cord injury patients.We also constructed a small RNA-mRNA interaction network using Cytoscape.Additionally,we evaluated the proportion of 22 types of immune cells in the peripheral blood of spinal co rd injury patients using the CIBERSORT tool.The proportions of naive B cells,plasma cells,monocytes,and neutrophils were increased while the proportions of memory B cells,CD8^(+)T cells,resting natural killer cells,resting dendritic cells,and eosinophils were markedly decreased in spinal cord injury patients increased compared with healthy subjects,and ANO10,BST1 and ZFP26L2we re closely related to the proportion of certain immune cell types.The findings from this study provide new directions for the development of treatment strategies related to immune inflammation in spinal co rd inju ry and suggest that ANO10,BST2,and ZFP36L2 are potential biomarkers for spinal cord injury.The study was registe red in the Chinese Clinical Trial Registry(registration No.ChiCTR2200066985,December 12,2022). 展开更多
关键词 bioinformatics analysis BIOMARKER CIBERSORT GEO dataset LASSO miRNA-mRNA network RNA sequencing spinal cord injury SVM-RFE weighted gene co-expression network analysis
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A rare missense PAX6 mutation causes atypical aniridia in a three-generation Chinese family 被引量:1
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作者 Zhi-Bo Lin Chun-Yun Feng +4 位作者 Jin Li An-Peng Pan Hai-Sen Sun A-Yong Yu Shi-Hao Chen 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2024年第3期466-472,共7页
●AIM:To investigate the molecular diagnosis of a threegeneration Chinese family affected with aniridia,and further to identify clinically a PAX6 missense mutation in members with atypical aniridia.●METHODS:Eleven fa... ●AIM:To investigate the molecular diagnosis of a threegeneration Chinese family affected with aniridia,and further to identify clinically a PAX6 missense mutation in members with atypical aniridia.●METHODS:Eleven family members with and without atypical aniridia were recruited.All family members underwent comprehensive ophthalmic examinations.A combination of whole exome sequencing(WES)and direct Sanger sequencing were performed to uncover the causative mutation.●RESULTS:Among the 11 family members,8 were clinically diagnosed with congenital aniridia(atypical aniridia phenotype).A rare heterozygous mutation c.622C>T(p.Arg208Trp)in exon 8 of PAX6 was identified in all affected family members but not in the unaffected members or in healthy control subjects.●CONCLUSION:A rare missense mutation in the PAX6 gene is found in members of a three-generation Chinese family with congenital atypical aniridia.This result contributes to an increase in the phenotypic spectrum caused by PAX6 missense heterozygous variants and provides useful information for the clinical diagnosis of atypical aniridia,which may also contribute to genetic counselling and family planning. 展开更多
关键词 PAX6 gene atypical aniridia missense mutation MUTATION
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Fine mapping and characterization of stripe rust resistance gene YrAYH in near-isogenic lines derived from a cross involving wheat landrace Anyuehong 被引量:1
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作者 Li Long Jue Li +19 位作者 Linyu Huang Huiling Jin Fangnian Guan Haipeng Zhang Sasa Zhao Hao Li Zhien Pu Wei Li Qiantao Jiang Yuming Wei Jian Ma Houyang Kang Shoufen Dai Pengfei Qi Qiang Xu Mei Deng Youliang Zheng Yunfeng Jiang Matthew James Moscou Guoyue Chen 《The Crop Journal》 SCIE CSCD 2024年第3期826-835,共10页
Stripe rust,caused by Puccinia striiformis f.sp.tritici(Pst),is a devastating disease in wheat worldwide.Discovering and characterizing new resistance genes/QTL is crucial for wheat breeding programs.In this study,we ... Stripe rust,caused by Puccinia striiformis f.sp.tritici(Pst),is a devastating disease in wheat worldwide.Discovering and characterizing new resistance genes/QTL is crucial for wheat breeding programs.In this study,we fine-mapped and characterized a stripe rust resistance gene,YRAYH,on chromosome arm 5BL in the Chinese wheat landrace Anyuehong(AYH).Evaluations of stripe rust response to prevalent Chinese Pst races in near-isogenic lines derived from a cross of Anyuehong and Taichung 29 showed that YrAYH conferred a high level of resistance at all growth stages.Fine mapping using a large segregating population of 9748 plants,narrowed the YRAYH locus to a 3.7 Mb interval on chromosome arm 5BL that included 61 annotated genes.Transcriptome analysis of two NIL pairs identified 64 upregulated differentially expressed genes(DEGs)in the resistant NILs(NILs-R).Annotations indicated that many of these genes have roles in plant disease resistance pathways.Through a combined approach of fine-mapping and transcriptome sequencing,we identified a serine/threonine-protein kinase SRPK as a candidate gene underlying YrAYH.A unique 25 bp insertion was identified in the NILs-R compared to the NILs-S and previously published wheat genomes.An InDel marker was developed and co-segregated with YrAYH.Agronomic trait evaluation of the NILs suggested that YrAYH not only reduces the impact of stripe rust but was also associated with a gene that increases plant height and spike length. 展开更多
关键词 Candidate gene analysis Crop protection Puccinia striiformis Transcriptome analyses
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Genetic dissection and origin of pleiotropic loci underlying multilevel fiber quality traits in upland cotton(Gossypium hirsutum L.) 被引量:1
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作者 Hongge Li Shurong Tang +7 位作者 Zhen Peng Guoyong Fu Yinhua Jia Shoujun Wei Baojun Chen Muhammad Shahid Iqbal Shoupu He Xiongming Du 《Journal of Integrative Agriculture》 SCIE CAS CSCD 2024年第10期3250-3263,共14页
Cotton fiber quality is a persistent concern that determines planting benefits and the quality of finished textile products.However,the limitations of measurement instruments have hindered the accurate evaluation of s... Cotton fiber quality is a persistent concern that determines planting benefits and the quality of finished textile products.However,the limitations of measurement instruments have hindered the accurate evaluation of some important fiber characteristics such as fiber maturity,fineness,and neps,which in turn has impeded the genetic improvement and industrial utilization of cotton fiber.Here,12 single fiber quality traits were measured using Advanced Fiber Information System(AFIS)equipment among 383 accessions of upland cotton(Gossypium hirsutum L.).In addition,eight conventional fiber quality traits were assessed by the High Volume Instrument(HVI)System.Genome-wide association study(GWAS),linkage disequilibrium(LD)block genotyping and functional identification were conducted sequentially to uncover the associated elite loci and candidate genes of fiber quality traits.As a result,the previously reported pleiotropic locus FL_D11 regulating fiber length-related traits was identified in this study.More importantly,three novel pleiotropic loci(FM_A03,FF_A05,and FN_A07)regulating fiber maturity,fineness and neps,respectively,were detected based on AFIS traits.Numerous highly promising candidate genes were screened out by integrating RNA-seq and qRT-PCR analyses,including the reported GhKRP6 for fiber length,the newly identified GhMAP8 for maturity and GhDFR for fineness.The origin and evolutionary analysis of pleiotropic loci indicated that the selection pressure on FL_D11,FM_A03 and FF_A05 increased as the breeding period approached the present and the origins of FM_A03 and FF_A05 were traced back to cotton landraces.These findings reveal the genetic basis underlying fiber quality and provide insight into the genetic improvement and textile utilization of fiber in G.hirsutum. 展开更多
关键词 upland cotton single fiber quality pleiotropic loci candidate genes locus origin
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Host-induced gene silencing of the Verticillium dahliae thiamine transporter protein gene(VdThit)confers resistance to Verticillium wilt in cotton 被引量:1
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作者 Qi Wang Guoqiang Pan +4 位作者 Xingfen Wang Zhengwen Sun Huiming Guo Xiaofeng Su Hongmei Cheng 《Journal of Integrative Agriculture》 SCIE CAS CSCD 2024年第10期3358-3369,共12页
Verticillium wilt(VW),induced by the soil-borne fungus Verticillium dahliae(Vd),poses a substantial threat to a diverse array of plant species.Employing molecular breeding technology for the development of cotton vari... Verticillium wilt(VW),induced by the soil-borne fungus Verticillium dahliae(Vd),poses a substantial threat to a diverse array of plant species.Employing molecular breeding technology for the development of cotton varieties with heightened resistance to VW stands out as one of the most efficacious protective measures.In this study,we successfully generated two stable transgenic lines of cotton(Gossypium hirsutum L.),VdThitRNAi-1 and VdThit-RNAi-2,using host-induced gene silencing(HIGS)technology to introduce double-stranded RNA(dsRNA)targeting the thiamine transporter protein gene(VdThit).Southern blot analysis confirmed the presence of a single-copy insertion in each line.Microscopic examination showed marked reductions in the colonization and spread of Vd-mCherry in the roots of VdThit-RNAi cotton compared to wild type(WT).The corresponding disease index and fungal biomass of VdThit-RNAi-1/2 also exhibited significant reductions.Real-time quantitative PCR(qRT-PCR)analysis demonstrated a substantial inhibition of VdThit expression following prolonged inoculation of VdThit-RNAi cotton.Small RNA sequencing(sRNA-Seq)analysis revealed the generation of a substantial number of VdThit-specific siRNAs in the VdThit-RNAi transgenic lines.Additionally,the silencing of VdThit by the siVdThit produced by VdThit-RNAi-1/2 resulted in the elevated expression of multiple genes involved in the thiamine biosynthesis pathway in Vd.Under field conditions,VdThit-RNAi transgenic cotton exhibited significantly enhanced disease resistance and yield compared with WT.In summary,our findings underscore the efficacy of HIGS targeting VdThit in restraining the infection and spread of Vd in cotton,thereby potentially enabling the development of cotton breeding as a promising strategy for managing VW. 展开更多
关键词 Verticillium dahliae thiamine transporter host-induced gene silencing(HIGS) RNAi
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Genome-wide identification,characterization and functional prediction of the SRS gene family in sesame(Sesamum indicum L.) 被引量:1
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作者 Farjana Afroz Susmi Tasmina Islam Simi +1 位作者 Md Nahid Hasan Md Abdur Rahim 《Oil Crop Science》 CSCD 2024年第2期69-80,共12页
Sesame(Sesamum indicum L.)is an ancient oilseed crop of the Pedaliaceae family with high oil content and potential health benefits.SHI RELATED SEQUENCE(SRS)proteins are the transcription factors(TFs)specific to plants... Sesame(Sesamum indicum L.)is an ancient oilseed crop of the Pedaliaceae family with high oil content and potential health benefits.SHI RELATED SEQUENCE(SRS)proteins are the transcription factors(TFs)specific to plants that contain RING-like zinc finger domain and are associated with the regulation of several physiological and biochemical processes.They also play vital roles in plant growth and development such as root formation,leaf development,floral development,hormone biosynthesis,signal transduction,and biotic and abiotic stress responses.Nevertheless,the SRS gene family was not reported in sesame yet.In this study,identification,molecular characterization,phylogenetic relationship,cis-acting regulatory elements,protein-protein interaction,syntenic relationship,duplication events and expression pattern of SRS genes were analyzed in S.indicum.We identified total six SiSRS genes on seven different linkage groups in the S.indicum genome by comparing with the other species,including the model plant Arabidopsis thaliana.The SiSRS genes showed variation in their structure like2–5 exons and 1–4 introns.Like other species,SiSRS proteins also contained‘RING-like zinc finger'and‘LRP1'domains.Then,the SiSRS genes were clustered into subclasses via phylogenetic analysis with proteins of S.indicum,A.thaliana,and some other plant species.The cis-acting regulatory elements analysis revealed that the promoter region of SiSRS4(SIN_1011561)showed the highest 13 and 16 elements for light-and phytohormone-responses whereas,SiSRS1(SIN_1015187)showed the highest 15 elements for stress-response.The ABREs,or ABA-responsive elements,were found in a maximum of 8 copies in the SiSRS3(SIN 1009100).Moreover,the available RNA-seq based expression of SiSRS genes revealed variation in expression patterns between stress-treated and non-treated samples,especially in drought and salinity conditions in.S.indicum.Two SiSRS genes like SiSRS1(SIN_1015187)and SiSRS5(SIN_1021065),also exhibited variable expression patterns between control vs PEG-treated sesame root samples and three SiSRS genes,including SiSRS1(SIN_1015187),SiSRS2(SIN_1003328)and SiSRS5(SIN_1021065)were responsive to salinity treatments.The present outcomes will encourage more research into the gene expression and functionality analysis of SiSRS genes in S.indicum and other related species. 展开更多
关键词 SiSRS gene family SHI Transcription factor CHARACTERIZATION Sesamum indicum
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