目的对现行液相色谱-串联质谱(liquid chromatography-tandem mass spectrometry,LC-MS/MS)法筛查的甲基丙二酸血症患者的临漏诊床、生化及基因特点进行研究,以期改进诊断技术。方法本研究纳入既往新生儿筛查或高危筛查阴性的4例甲基丙...目的对现行液相色谱-串联质谱(liquid chromatography-tandem mass spectrometry,LC-MS/MS)法筛查的甲基丙二酸血症患者的临漏诊床、生化及基因特点进行研究,以期改进诊断技术。方法本研究纳入既往新生儿筛查或高危筛查阴性的4例甲基丙二酸血症患者,采用其他生化检测及基因分析明确诊断。应用LC-MS/MS技术对干血斑总同型半胱氨酸补充检测。结果4例患者于2个月至4岁发病,主要表现为重度贫血、脑积水、发育落后及皮肤色素沉着。例1和例2血液丙酰肉碱增高,尿液甲基丙二酸增高,基因分析证实为cblC型。例3血清总同型半胱氨酸增高,基因检测证实为cblG型。例4血清总同型半胱氨酸和尿液甲基丙二酸增高,基因分析证实为cblJ型。LC-MS/MS检测发现,4例患者干血斑总同型半胱氨酸均显著增高。结论本研究报道了4例LC-MS/MS漏筛的甲基丙二酸血症,确诊了我国首例cblG和cblJ。LC-MS/MS技术可实现干血斑总同型半胱氨酸检测,提高诊断效率,减少漏诊。展开更多
花生过敏由于其高致敏率和致敏严重性而引起了人们的广泛关注。Ara h 1是花生中的主要过敏原,属于Cupin超家族,通过抗原表位识别结合免疫球蛋白E引发花生过敏。本研究采用生物信息学分析花生主要过敏原Cupin超家族Ara h 1线性B细胞表位...花生过敏由于其高致敏率和致敏严重性而引起了人们的广泛关注。Ara h 1是花生中的主要过敏原,属于Cupin超家族,通过抗原表位识别结合免疫球蛋白E引发花生过敏。本研究采用生物信息学分析花生主要过敏原Cupin超家族Ara h 1线性B细胞表位氨基酸组成,及其与Ara h 1二级、三级结构之间关系,通过质谱分析Ara h 1氨基酸序列中的抗消化肽段,并分析抗消化肽段与预测线性B细胞表位的关系。结果表明,Ara h 1的线性B细胞表位富含亲水性氨基酸和带电氨基酸;其二级结构没有明显的分布规律,具有一定的回转折叠结构;分析Ara h 1三级结构发现,表位主要位于单体之间的疏水相互作用区域,部分表位埋入三聚体构象内部;Ara h 1抗消化序列与表位之间存在部分重叠。综上,质谱检测体外模拟胃肠道消化肽段并结合表位生物信息学分析可以作为鉴定Cupin超家族线性B细胞表位的新方法。展开更多
Background:DNA methylation is an important epigenetic factor that maintains and regulates gene expression.The mode and level of DNA methylation depend on the roles of DNA methyltransferase and demethylase,while DNA de...Background:DNA methylation is an important epigenetic factor that maintains and regulates gene expression.The mode and level of DNA methylation depend on the roles of DNA methyltransferase and demethylase,while DNA demethylase plays a key role in the process of DNA demethylation.The results showed that the plant’s DNA demethylase all contained conserved DNA glycosidase domain.This study identified the cotton DNA demethylase gene family and analyzed it using bioinformatics methods to lay the foundation for further study of cotton demethylase gene function.Results:This study used genomic information from diploid Gossypium raimondii JGI(D),Gossypium arboreum L.CRI(A),Gossypium hirsutum L.JGI(AD1) and Gossypium barbadebse L NAU(AD2) to Arabidopsis thaliana.Using DNA demethylase genes sequence of Arabidopsis as reference,25 DNA demethylase genes were identified in cotton by BLAST analysis.There are 4 genes in the genome D,5 genes in the genome A,10 genes in the genome AD1,and 6 genes in the genome AD2.The gene structure and evolution were analyzed by bioinformatics,and the expression patterns of DNA demethylase gene family in Gossypium hirsutum L were analyzed.From the phylogenetic tree analysis,the DNA demethylase gene family of cotton can be divided into four subfamilies:REPRESSOR of SILENCING 1(ROS1),DEMETER(DME),DEMETER-LIKE 2(DML2),and DEMETER-LIKE3(DML3).The sequence similarity of DNA demethylase genes in the same species was higher,and the genetic relationship was also relatively close.Analysis of the gene structure revealed that the DNA demethylase gene family members of the four subfamilies varied greatly.Among them,the number of introns of ROS1 and DME subfamily was larger,and the gene structure was more complex.For the analysis of the conserved domain,it was known that the DNA demethylase family gene member has an endonuclease Ⅲ(END03 c) domain.Conclusion:The genes of the DNA demethylase family are distributed differently in different cotton species,and the gene structure is very different.High expression of ROS1 genes in cotton were under abiotic stress.The expression levels of ROS1 genes were higher during the formation of cotton ovule.The transcription levels of ROS1 family genes were higher during cotton fiber development.展开更多
Background:Under abiotic stress conditions,cotton growth is inhibited and yield losses are severe.Identification of calnexin family members and function analysis under abiotic stress laid the foundation for the screen...Background:Under abiotic stress conditions,cotton growth is inhibited and yield losses are severe.Identification of calnexin family members and function analysis under abiotic stress laid the foundation for the screening of stressrelated candidate genes.Results:A total of 60 CNX family members have been identified in Gossypium hirsutum,G.barbadense,G.arboreum,and G.raimondii,and they were divided into two categories:CNX and CRT genes.Through the construction of a phylogenetic tree,they were subdivided into three classes.Further analysis of chromosome localization,conserved promoters,gene structure and selection under pressure showed that the family members were highly conserved in the evolution process.Analysis of cis-acting elements in the promoter regions showed that CNX family genes contain regulatory elements for growth and development,anaerobic,drought,defense and stress response,and plant hormones.Using RNA-seq data to study the expression pattern of GhCNX genes under cold,hot,salt stress and Polyethylene glycol,it was observed that the gene expression levels changed by different degrees under different stress conditions,indicating that GhCNX members were involved in the regulation of multiple biological stresses.Conclusion:This study provides an insight into the members of cotton CNX genes.The results of this study suggested that CNX family members play a role in defense against adversity and provide a foundation for the discovery of stress-related genes.展开更多
Background: Nucleobase-ascorbate transporters(NAT), synonymously called nucleobase-cation symporter 2(NCS2) proteins, were earlier reported to be involved in plant growth, development and resistance to stress. Previou...Background: Nucleobase-ascorbate transporters(NAT), synonymously called nucleobase-cation symporter 2(NCS2) proteins, were earlier reported to be involved in plant growth, development and resistance to stress. Previous studies concluded that s a polymorphic SNP associated with NAT12 was significant di erent between salt-tolerant and salt-sensitive materials of upland cotton. In current study, a comprehensive analysis of NAT family genes was conducted for the first time in cotton.Results: In this study, we discovered 32, 32, 18, and 16 NAT genes in Gossypium hirsutum, G. barbadense, G. raimondii and G. arboreum, respectively, which were classified into four groups(groups I–IV) based on the multiple sequence analysis. These GhNAT genes were unevenly distributed on At and Dt sub-genome in G. hirsutum. Most GhNAT members in the same group had similar gene structure characteristics and motif composition. The collinearity analysis revealed segmental duplication as well as tandem duplication contributing to the expansion of the GhNATs. The analysis of cis-acting regulatory elements of GhNATs showed that the function of GhNAT genes in cotton might be related to plant hormone and stress response. Under di erent conditions, the expression levels further suggested the GhNAT family genes were associated with plant response to various abiotic stresses. GhNAT12 was detected in the plasma membrane. And it was validated that the GhNAT12 gene played an important role in regulating cotton resistance to salt and drought stress through the virus-induced gene silencing(VIGS) analysis.Conclusions: A comprehensive analysis of NAT gene family was performed in cotton, including phylogenetic analysis, chromosomal location, collinearity analysis, motifs, gene structure and so on. Our results will further broaden the insight into the evolution and potential functions of NAT genes in cotton. Current findings could make significant contribution towards screening more candidate genes related to biotic and abiotic resistance for the improvement in cotton.展开更多
文摘目的对现行液相色谱-串联质谱(liquid chromatography-tandem mass spectrometry,LC-MS/MS)法筛查的甲基丙二酸血症患者的临漏诊床、生化及基因特点进行研究,以期改进诊断技术。方法本研究纳入既往新生儿筛查或高危筛查阴性的4例甲基丙二酸血症患者,采用其他生化检测及基因分析明确诊断。应用LC-MS/MS技术对干血斑总同型半胱氨酸补充检测。结果4例患者于2个月至4岁发病,主要表现为重度贫血、脑积水、发育落后及皮肤色素沉着。例1和例2血液丙酰肉碱增高,尿液甲基丙二酸增高,基因分析证实为cblC型。例3血清总同型半胱氨酸增高,基因检测证实为cblG型。例4血清总同型半胱氨酸和尿液甲基丙二酸增高,基因分析证实为cblJ型。LC-MS/MS检测发现,4例患者干血斑总同型半胱氨酸均显著增高。结论本研究报道了4例LC-MS/MS漏筛的甲基丙二酸血症,确诊了我国首例cblG和cblJ。LC-MS/MS技术可实现干血斑总同型半胱氨酸检测,提高诊断效率,减少漏诊。
文摘花生过敏由于其高致敏率和致敏严重性而引起了人们的广泛关注。Ara h 1是花生中的主要过敏原,属于Cupin超家族,通过抗原表位识别结合免疫球蛋白E引发花生过敏。本研究采用生物信息学分析花生主要过敏原Cupin超家族Ara h 1线性B细胞表位氨基酸组成,及其与Ara h 1二级、三级结构之间关系,通过质谱分析Ara h 1氨基酸序列中的抗消化肽段,并分析抗消化肽段与预测线性B细胞表位的关系。结果表明,Ara h 1的线性B细胞表位富含亲水性氨基酸和带电氨基酸;其二级结构没有明显的分布规律,具有一定的回转折叠结构;分析Ara h 1三级结构发现,表位主要位于单体之间的疏水相互作用区域,部分表位埋入三聚体构象内部;Ara h 1抗消化序列与表位之间存在部分重叠。综上,质谱检测体外模拟胃肠道消化肽段并结合表位生物信息学分析可以作为鉴定Cupin超家族线性B细胞表位的新方法。
基金funded by the National Key Research and Development Program of China(2018YFD0100401)
文摘Background:DNA methylation is an important epigenetic factor that maintains and regulates gene expression.The mode and level of DNA methylation depend on the roles of DNA methyltransferase and demethylase,while DNA demethylase plays a key role in the process of DNA demethylation.The results showed that the plant’s DNA demethylase all contained conserved DNA glycosidase domain.This study identified the cotton DNA demethylase gene family and analyzed it using bioinformatics methods to lay the foundation for further study of cotton demethylase gene function.Results:This study used genomic information from diploid Gossypium raimondii JGI(D),Gossypium arboreum L.CRI(A),Gossypium hirsutum L.JGI(AD1) and Gossypium barbadebse L NAU(AD2) to Arabidopsis thaliana.Using DNA demethylase genes sequence of Arabidopsis as reference,25 DNA demethylase genes were identified in cotton by BLAST analysis.There are 4 genes in the genome D,5 genes in the genome A,10 genes in the genome AD1,and 6 genes in the genome AD2.The gene structure and evolution were analyzed by bioinformatics,and the expression patterns of DNA demethylase gene family in Gossypium hirsutum L were analyzed.From the phylogenetic tree analysis,the DNA demethylase gene family of cotton can be divided into four subfamilies:REPRESSOR of SILENCING 1(ROS1),DEMETER(DME),DEMETER-LIKE 2(DML2),and DEMETER-LIKE3(DML3).The sequence similarity of DNA demethylase genes in the same species was higher,and the genetic relationship was also relatively close.Analysis of the gene structure revealed that the DNA demethylase gene family members of the four subfamilies varied greatly.Among them,the number of introns of ROS1 and DME subfamily was larger,and the gene structure was more complex.For the analysis of the conserved domain,it was known that the DNA demethylase family gene member has an endonuclease Ⅲ(END03 c) domain.Conclusion:The genes of the DNA demethylase family are distributed differently in different cotton species,and the gene structure is very different.High expression of ROS1 genes in cotton were under abiotic stress.The expression levels of ROS1 genes were higher during the formation of cotton ovule.The transcription levels of ROS1 family genes were higher during cotton fiber development.
基金supported by the Agricultural Science and Technology Innovation Program of Chinese Academy of Agricultural Sciences,and Supported by China Agriculture Research System of MOF and MARA.
文摘Background:Under abiotic stress conditions,cotton growth is inhibited and yield losses are severe.Identification of calnexin family members and function analysis under abiotic stress laid the foundation for the screening of stressrelated candidate genes.Results:A total of 60 CNX family members have been identified in Gossypium hirsutum,G.barbadense,G.arboreum,and G.raimondii,and they were divided into two categories:CNX and CRT genes.Through the construction of a phylogenetic tree,they were subdivided into three classes.Further analysis of chromosome localization,conserved promoters,gene structure and selection under pressure showed that the family members were highly conserved in the evolution process.Analysis of cis-acting elements in the promoter regions showed that CNX family genes contain regulatory elements for growth and development,anaerobic,drought,defense and stress response,and plant hormones.Using RNA-seq data to study the expression pattern of GhCNX genes under cold,hot,salt stress and Polyethylene glycol,it was observed that the gene expression levels changed by different degrees under different stress conditions,indicating that GhCNX members were involved in the regulation of multiple biological stresses.Conclusion:This study provides an insight into the members of cotton CNX genes.The results of this study suggested that CNX family members play a role in defense against adversity and provide a foundation for the discovery of stress-related genes.
基金supported by China Agriculture Research System of MOF and MOARAAgricultural Science and Technology Innovation Program of Chinese Academy of Agricultural Science
文摘Background: Nucleobase-ascorbate transporters(NAT), synonymously called nucleobase-cation symporter 2(NCS2) proteins, were earlier reported to be involved in plant growth, development and resistance to stress. Previous studies concluded that s a polymorphic SNP associated with NAT12 was significant di erent between salt-tolerant and salt-sensitive materials of upland cotton. In current study, a comprehensive analysis of NAT family genes was conducted for the first time in cotton.Results: In this study, we discovered 32, 32, 18, and 16 NAT genes in Gossypium hirsutum, G. barbadense, G. raimondii and G. arboreum, respectively, which were classified into four groups(groups I–IV) based on the multiple sequence analysis. These GhNAT genes were unevenly distributed on At and Dt sub-genome in G. hirsutum. Most GhNAT members in the same group had similar gene structure characteristics and motif composition. The collinearity analysis revealed segmental duplication as well as tandem duplication contributing to the expansion of the GhNATs. The analysis of cis-acting regulatory elements of GhNATs showed that the function of GhNAT genes in cotton might be related to plant hormone and stress response. Under di erent conditions, the expression levels further suggested the GhNAT family genes were associated with plant response to various abiotic stresses. GhNAT12 was detected in the plasma membrane. And it was validated that the GhNAT12 gene played an important role in regulating cotton resistance to salt and drought stress through the virus-induced gene silencing(VIGS) analysis.Conclusions: A comprehensive analysis of NAT gene family was performed in cotton, including phylogenetic analysis, chromosomal location, collinearity analysis, motifs, gene structure and so on. Our results will further broaden the insight into the evolution and potential functions of NAT genes in cotton. Current findings could make significant contribution towards screening more candidate genes related to biotic and abiotic resistance for the improvement in cotton.