Gibberellin 2-oxidases(GA2ox)are important enzymes that maintain the balance of bioactive GAs in plants.GA2ox genes have been identified and characterized in many plants,but these genes were not investigated in Brassi...Gibberellin 2-oxidases(GA2ox)are important enzymes that maintain the balance of bioactive GAs in plants.GA2ox genes have been identified and characterized in many plants,but these genes were not investigated in Brassica napus.Here,we identified 31 GA2ox genes in B.napus and 15 of these BnaGA2ox genes were distributed in the A and C subgenomes.Subcellular localization predictions suggested that all BnaGA2ox proteins were localized in the cytoplasm,and gene structure analysis showed that the BnaGA2ox genes contained 2–4 exons.Phylogenetic analysis indicated that BnGA2ox family proteins in monocotyledons and dicotyledons can be divided into four groups,including two C_(19)-GA2ox and two C_(20)-GA2ox clades.Group 4 is a C_(20)-GA2ox Class discovered recently.Most BnaGA2ox genes had a syntenic relationship with AtGA2ox genes.BnaGA2ox genes in the C subgenome had experienced stronger selection pressure than genes in the A subgenome.BnaGA2ox genes were highly expressed in specific tissues such as those involved in growth and development,and most of them were mainly involved in abiotic responses,regulation of phytohormones and growth and development.Our study provided a valuable evolutionary analysis of GA2ox genes in monocotyledons and dicotyledons,as well as an insight into the biological functions of GA2ox family genes in B.napus.展开更多
The R2R3-MYB genes make up one of the largest transcription factor families in plants, and play regulatory roles in various biological processes such as development, metabolism and defense response. Although genome-wi...The R2R3-MYB genes make up one of the largest transcription factor families in plants, and play regulatory roles in various biological processes such as development, metabolism and defense response. Although genome-wide analyses of this gene family have been conducted in several species, R2R3-MYB genes have not been systematically analyzed in Medicago truncatula, a sequenced model legume plant. Here, we performed a comprehensive, genome-wide computational analysis of the structural characteristics, phylogeny, functions and expression patterns of M. truncatula R2R3-MYB genes. DNA binding domains are highly conserved among the 155 putative MtR2R3-MYB proteins that we identified. Chromosomal location analysis revealed that these genes were distributed across all eight chromosomes. Results showed that the expansion of the MtR2R3-MYB family was mainly attributable to segmental duplication and tandem duplication. A comprehensive classification was performed based on phylogenetic analysis of the R2R3-MYB gene families in M. truncatula, Arabidopsis thaliana and other plant species. Evolutionary relationships within clades were supported by clade-specific conserved motifs outside the MYB domain. Species-specific clades have been gained or lost during evolution, resulting in functional divergence. Also, tissue-specific expression patterns were investigated. The functions of stress response-related clades were further verified by the changes in transcript levels of representative R2R3-MYB genes upon treatment with abiotic and biotic stresses. This study is the first report on identification and characterization of R2R3-MYB gene family based on the genome of M. truncatula, and will facilitate functional analysis of this gene family in the future.展开更多
目的探讨由RAB27A基因缺陷导致的格里塞利综合征2型(Griscelli syndrome type 2,GS2)的临床及免疫学特征。方法收集1家系2例GS2患儿组成的临床资料、生化检查及病理活检结果,采集头发显微镜检查,抽取外周静脉血进行免疫系统基因外显子...目的探讨由RAB27A基因缺陷导致的格里塞利综合征2型(Griscelli syndrome type 2,GS2)的临床及免疫学特征。方法收集1家系2例GS2患儿组成的临床资料、生化检查及病理活检结果,采集头发显微镜检查,抽取外周静脉血进行免疫系统基因外显子阵列测序,桑格测序验证患儿及父母RAB27A基因突变位点,采用蛋白印迹法检测外周血单个核细胞RAB27A蛋白表达水平,采用流式细胞术进行CTL细胞及NK细胞毒性功能检测,健康对照为正常同龄儿童。结果2例患者为亲兄妹,生后均表现毛发色素减退合,均以反复发热、反复呼吸道感染合并噬血细胞性淋巴组织细胞增生症(HLH)为主要临床表现,妹妹伴全身弥漫靶形损害样皮疹。2例患者头发内均有不规则黑色素团块堆积,妹妹皮损组织病理示表皮基底层黑色素细胞不规则分布,RAB27A基因5号外显子发生c.377 delC纯合移码突变,其父母为近亲结婚,均为携带者,2例患儿RAB27A蛋白表达均明显降低,NK细胞及CTL的细胞毒功能均受损。2例患儿均未接受化疗及造血干细胞移植(HSCT),先后因HLH死亡。结论GS2的确诊依赖临床表现及基因检测,免疫功能检测亦有助于诊断,同种异体造血干细胞移植是目前根治GS2的唯一方法。展开更多
AP2/ERE-type transcription factors,as a type of plant-specific transcription factors,play a key role in plant biotic and abiotic stress.Meanwhile,they have been studied in many plants,but rarely in tomatoes.In this st...AP2/ERE-type transcription factors,as a type of plant-specific transcription factors,play a key role in plant biotic and abiotic stress.Meanwhile,they have been studied in many plants,but rarely in tomatoes.In this study,we performed a genome-wide analysis of the SlAP2/ERF gene family of tomato,and finally identified 29 SlAP2/ERF genes and divided them into different subfamilies.At the same time,its basic physical and chemical properties were analyzed.We also constructed phylogenetic trees with 30 Arabidopsis AP2/ERF proteins and 28 potatoes AP2/ERF proteins to ensure conservative homology between them.In addition,we mapped 29 SlAP2/ERF transcription factors on 10 different chromosomes,and identified 43 responsive plant hormones,responsive light signals,tissue-specific expression and stress response elements from 2000bp upstream of the promoter region,and we analyzed conserved motifs and gene structures of SlAP2/ERF.The tertiary structure of SlAP2/ERF protein was constructed by homology modeling,and the protein-protein interaction network was constructed based on Arabidopsis Thaliana.Finally,the expression pattern of tomato in different tissues was studied by using gene expression database,and the expression level of tomato under abiotic stress was detected by q-RT-PCR.These results provide comprehensive information for further study of the function of the SlAP2/ERF gene family.展开更多
Summary： The ATP2C1 gene mutation in one ease of familial benign chronic pemphigus was investigated.One patient was diagnosed as familial benign chronic pemphigus by pathology, ultrastructral examination and clinical...Summary： The ATP2C1 gene mutation in one ease of familial benign chronic pemphigus was investigated.One patient was diagnosed as familial benign chronic pemphigus by pathology, ultrastructral examination and clinical features. Genomic DNA was extracted from blood samples. Mutation of ATP2CI gene was detected by polymerase chain reaction （PCR） and DNA sequencing. The results showed that deletion mutation was detected in ATP2C1 gene in this patient, which was 2374delTTTG. No mutation was found in the family members and normal individuals. It was coneluded that the 2374delTTTG mutation in ATP2C1 gene was the specific mutation for the clinical phenotype for this patient and was a de novo mutation.展开更多
Soybean oleic acid content is one of the important indexes to evaluate the quality of soybean oil.In the synthesis pathway of soybean fatty acids,the FAD2 gene family is the key gene that regulates the production of l...Soybean oleic acid content is one of the important indexes to evaluate the quality of soybean oil.In the synthesis pathway of soybean fatty acids,the FAD2 gene family is the key gene that regulates the production of linoleic acid from soybean oleic acid.In this study,CRISPR/Cas9 gene editing technology was used to regulate FAD2 gene expression.Firstly,the CRISPR/Cas9 single knockout vectors GmFAD2-1B and GmFAD2-2C and double knockout vectors GmFAD2-2A-3 were constructed.Then,the three vectors were transferred into the recipient soybean variety Jinong 38 by Agrobacterium-mediated cotyledon node transformation,and the mutant plants were obtained.Functional analysis and comparison of the mutant plants of the T2 and T3 generations were carried out.The results showed that there was no significant difference in agronomic traits between the CRISPR/Cas9 single and double knockout vectors and the untransformed CRISPR/Cas9 receptor varieties.The oleic acid content of the plants that knocked out the CRISPR/Cas9 double gene vector was significantly higher than that of the single gene vector.展开更多
基金supported by the Chongqing Academy of Agricultural Sciences Youth Innovation Team Project(NKY-2018QC01)Chongqing Finance Special Project(NKY-2022AC002)+2 种基金the Natural Science Foundation Project of Yongchuan(2021yc-jckx20013)the Technology Innovation and Application Development(Surface)Project of Yongchuan(2021yc-cxfz30007)the National Oilseed Rape Industrial Technology System Sanxia Comprehensive Experiment Station Project(CARS-13).
文摘Gibberellin 2-oxidases(GA2ox)are important enzymes that maintain the balance of bioactive GAs in plants.GA2ox genes have been identified and characterized in many plants,but these genes were not investigated in Brassica napus.Here,we identified 31 GA2ox genes in B.napus and 15 of these BnaGA2ox genes were distributed in the A and C subgenomes.Subcellular localization predictions suggested that all BnaGA2ox proteins were localized in the cytoplasm,and gene structure analysis showed that the BnaGA2ox genes contained 2–4 exons.Phylogenetic analysis indicated that BnGA2ox family proteins in monocotyledons and dicotyledons can be divided into four groups,including two C_(19)-GA2ox and two C_(20)-GA2ox clades.Group 4 is a C_(20)-GA2ox Class discovered recently.Most BnaGA2ox genes had a syntenic relationship with AtGA2ox genes.BnaGA2ox genes in the C subgenome had experienced stronger selection pressure than genes in the A subgenome.BnaGA2ox genes were highly expressed in specific tissues such as those involved in growth and development,and most of them were mainly involved in abiotic responses,regulation of phytohormones and growth and development.Our study provided a valuable evolutionary analysis of GA2ox genes in monocotyledons and dicotyledons,as well as an insight into the biological functions of GA2ox family genes in B.napus.
基金supported by the National Natural Science Foundation of China(31372362)
文摘The R2R3-MYB genes make up one of the largest transcription factor families in plants, and play regulatory roles in various biological processes such as development, metabolism and defense response. Although genome-wide analyses of this gene family have been conducted in several species, R2R3-MYB genes have not been systematically analyzed in Medicago truncatula, a sequenced model legume plant. Here, we performed a comprehensive, genome-wide computational analysis of the structural characteristics, phylogeny, functions and expression patterns of M. truncatula R2R3-MYB genes. DNA binding domains are highly conserved among the 155 putative MtR2R3-MYB proteins that we identified. Chromosomal location analysis revealed that these genes were distributed across all eight chromosomes. Results showed that the expansion of the MtR2R3-MYB family was mainly attributable to segmental duplication and tandem duplication. A comprehensive classification was performed based on phylogenetic analysis of the R2R3-MYB gene families in M. truncatula, Arabidopsis thaliana and other plant species. Evolutionary relationships within clades were supported by clade-specific conserved motifs outside the MYB domain. Species-specific clades have been gained or lost during evolution, resulting in functional divergence. Also, tissue-specific expression patterns were investigated. The functions of stress response-related clades were further verified by the changes in transcript levels of representative R2R3-MYB genes upon treatment with abiotic and biotic stresses. This study is the first report on identification and characterization of R2R3-MYB gene family based on the genome of M. truncatula, and will facilitate functional analysis of this gene family in the future.
文摘目的探讨由RAB27A基因缺陷导致的格里塞利综合征2型(Griscelli syndrome type 2,GS2)的临床及免疫学特征。方法收集1家系2例GS2患儿组成的临床资料、生化检查及病理活检结果,采集头发显微镜检查,抽取外周静脉血进行免疫系统基因外显子阵列测序,桑格测序验证患儿及父母RAB27A基因突变位点,采用蛋白印迹法检测外周血单个核细胞RAB27A蛋白表达水平,采用流式细胞术进行CTL细胞及NK细胞毒性功能检测,健康对照为正常同龄儿童。结果2例患者为亲兄妹,生后均表现毛发色素减退合,均以反复发热、反复呼吸道感染合并噬血细胞性淋巴组织细胞增生症(HLH)为主要临床表现,妹妹伴全身弥漫靶形损害样皮疹。2例患者头发内均有不规则黑色素团块堆积,妹妹皮损组织病理示表皮基底层黑色素细胞不规则分布,RAB27A基因5号外显子发生c.377 delC纯合移码突变,其父母为近亲结婚,均为携带者,2例患儿RAB27A蛋白表达均明显降低,NK细胞及CTL的细胞毒功能均受损。2例患儿均未接受化疗及造血干细胞移植(HSCT),先后因HLH死亡。结论GS2的确诊依赖临床表现及基因检测,免疫功能检测亦有助于诊断,同种异体造血干细胞移植是目前根治GS2的唯一方法。
基金the National Natural Science Foundation of China(31560663,32060401).
文摘AP2/ERE-type transcription factors,as a type of plant-specific transcription factors,play a key role in plant biotic and abiotic stress.Meanwhile,they have been studied in many plants,but rarely in tomatoes.In this study,we performed a genome-wide analysis of the SlAP2/ERF gene family of tomato,and finally identified 29 SlAP2/ERF genes and divided them into different subfamilies.At the same time,its basic physical and chemical properties were analyzed.We also constructed phylogenetic trees with 30 Arabidopsis AP2/ERF proteins and 28 potatoes AP2/ERF proteins to ensure conservative homology between them.In addition,we mapped 29 SlAP2/ERF transcription factors on 10 different chromosomes,and identified 43 responsive plant hormones,responsive light signals,tissue-specific expression and stress response elements from 2000bp upstream of the promoter region,and we analyzed conserved motifs and gene structures of SlAP2/ERF.The tertiary structure of SlAP2/ERF protein was constructed by homology modeling,and the protein-protein interaction network was constructed based on Arabidopsis Thaliana.Finally,the expression pattern of tomato in different tissues was studied by using gene expression database,and the expression level of tomato under abiotic stress was detected by q-RT-PCR.These results provide comprehensive information for further study of the function of the SlAP2/ERF gene family.
文摘Summary： The ATP2C1 gene mutation in one ease of familial benign chronic pemphigus was investigated.One patient was diagnosed as familial benign chronic pemphigus by pathology, ultrastructral examination and clinical features. Genomic DNA was extracted from blood samples. Mutation of ATP2CI gene was detected by polymerase chain reaction （PCR） and DNA sequencing. The results showed that deletion mutation was detected in ATP2C1 gene in this patient, which was 2374delTTTG. No mutation was found in the family members and normal individuals. It was coneluded that the 2374delTTTG mutation in ATP2C1 gene was the specific mutation for the clinical phenotype for this patient and was a de novo mutation.
基金This work was supported by the National Natural Science Foundation of China Project Nos.[31771817,31801381]National Key Research and Development Program[2019YFD1002603-1].
文摘Soybean oleic acid content is one of the important indexes to evaluate the quality of soybean oil.In the synthesis pathway of soybean fatty acids,the FAD2 gene family is the key gene that regulates the production of linoleic acid from soybean oleic acid.In this study,CRISPR/Cas9 gene editing technology was used to regulate FAD2 gene expression.Firstly,the CRISPR/Cas9 single knockout vectors GmFAD2-1B and GmFAD2-2C and double knockout vectors GmFAD2-2A-3 were constructed.Then,the three vectors were transferred into the recipient soybean variety Jinong 38 by Agrobacterium-mediated cotyledon node transformation,and the mutant plants were obtained.Functional analysis and comparison of the mutant plants of the T2 and T3 generations were carried out.The results showed that there was no significant difference in agronomic traits between the CRISPR/Cas9 single and double knockout vectors and the untransformed CRISPR/Cas9 receptor varieties.The oleic acid content of the plants that knocked out the CRISPR/Cas9 double gene vector was significantly higher than that of the single gene vector.
