Application and functional study of dwarf and semi-dwarf genes are of great importance to both crop breeding and molecular biology. A new semi-dwarf gene, sd-t(t), non-allelic to sd-1,had been identified in an indica ...Application and functional study of dwarf and semi-dwarf genes are of great importance to both crop breeding and molecular biology. A new semi-dwarf gene, sd-t(t), non-allelic to sd-1,had been identified in an indica rice variety, Aitaiyin 2. In this study the gene was genetically mapped by using an F2 population, which consisted of 474 individuals developed from a cross between Aitaiyin 2 and B30. The sd-t(t) gene was located between the RFLP markers R514 and R1408B with a distance of 1.1 cM to R514, and 4.5 cM to R1408B on chromosome 4. A physical contig covering the sd-t(t) mapping region was further constructed by screening a BAC library with R514 and R1408B as probes, and the physical distance between R514 and R1408B was estimated at approximately 147 kb. This result will facilitate map-based cloning of the sd-t(t) gene.展开更多
The inherent interest on the origin of genetic novelties can be traced back to Darwin. But it was not until recently that we were allowed to investigate the fundamental process of origin of new genes by the studies on...The inherent interest on the origin of genetic novelties can be traced back to Darwin. But it was not until recently that we were allowed to investigate the fundamental process of origin of new genes by the studies on newly evolved young genes. Two indispensible steps are involved in this process: origin of new gene copies through various mutational mechanisms and evolution of novel functions, which fur- ther more leads to fixation of the new copies within populations. The theoretical framework for the former step formed in 1970s. Ohno proposed gene duplication as the most important mechanism producing new gene copies. He also believed that the most common fate for new gene copies is to become pseudogenes. This classical view was validated and was also challenged by the characterization of the first functional young gene jingwei in Drosophila. Recent genome-wide comparison on young genes of Drosophila has elucidated a compre- hensive picture addressing remarkable roles of various mechanisms besides gene duplication during origin of new genes. Case surveys revealed it is not rare that new genes would evolve novel structures and functions to contribute to the adaptive evolution of organisms. Here, we review recent advances in understanding how new genes originated and evolved on the basis of genome-wide results and ex- perimental efforts on cases. We would finally discuss the future directions of this fast-growing research field in the context of functional genomics era.展开更多
People living on the high plateaus of the world have long fascinated biological anthropologists and geneticists because they live in "thin air" and epitomize an extreme of human biological adaptation.
Whitebacked planthopper (WBPH,Sogatella furcifera Horvath) is one ofthe most destructive insects for rice.The utilization of WBPH resistancegenes is always an efficient solution tothis problem. Besides five WBPHresist...Whitebacked planthopper (WBPH,Sogatella furcifera Horvath) is one ofthe most destructive insects for rice.The utilization of WBPH resistancegenes is always an efficient solution tothis problem. Besides five WBPHresistance genes registered, Wbph1,Wbph 2 , Wbph 3 , wbph 4 , andWbphS, classical segregation analysis展开更多
Six pairs of tall and dwarf near-isogenic lines derived from a dominant semi-dwarf mutant (Y98149) were selected to study height expression and sensitivity to gibberellic acid (GA3). The lengths of the 4-5th inter...Six pairs of tall and dwarf near-isogenic lines derived from a dominant semi-dwarf mutant (Y98149) were selected to study height expression and sensitivity to gibberellic acid (GA3). The lengths of the 4-5th internode, the 3rd, 2nd, 1st internodes from the top and the panicle length in the six dwarf near isogenic lines were 97.2%, 53.3%, 65.1%, 61.9% and 94.7% of those in the six tall ones, respectively, indicating that the dominant semi-dwarfing gene significantly inhibited the internode elongation. Moreover, Y98149 (mutant type) was more sensitive to GA3 than Y98148 (wild type), and had a lower GA3 concentration in plant, about 78% of Y98148.展开更多
BACKGROUND The SETD1B gene is instrumental in human intelligence and nerve development.Mutations in the SETD1B gene have been linked in recent studies to neurodevelopmental disorders,seizures,and language delay.CASE S...BACKGROUND The SETD1B gene is instrumental in human intelligence and nerve development.Mutations in the SETD1B gene have been linked in recent studies to neurodevelopmental disorders,seizures,and language delay.CASE SUMMARY This study aimed to analyze the clinical manifestations and treatment of three patients suffering from mental retardation,epilepsy,and language delay resulting from a new mutation in the SETD1B gene.Three individuals with these symptoms were selected,and their clinical symptoms,gene test results,and treatment were analyzed.This article discusses the impact of the SETD1B gene mutation on patients and outlines the treatment approach.Among the three patients(two females and one male,aged 8,4,and 1,respectively),all exhibited psychomotor retardation,attention deficit,and hyperactivity disorder,and two had epilepsy.Antiepileptic treatment with sodium tripolyvalproate halted the seizures in the affected child,although mental development remained somewhat delayed.Whole exome sequencing revealed new mutations in the SETD1B gene for all patients,specifically with c.5473C>T(p.Arg1825trp),c.4120C>T(p.Gln1374*,593),c.14_15insC(p.His5Hisfs*33).CONCLUSION Possessing the SETD1B gene mutation may cause mental retardation accompanied by seizures and language delay.Although the exact mechanism is not fully understood,interventions such as drug therapy,rehabilitation training,and family support can assist patients in managing their symptoms and enhancing their quality of life.Furthermore,genetic testing supplies healthcare providers with more precise diagnostic and therapeutic guidance,informs families about genetic disease risks,and contributes to understanding disease pathogenesis and drug research and development.展开更多
Peripheral nerves form a complex network connecting the central nervous system and the body. Injuries to peripheral nerves often lead to partial or complete loss of motor, sen- sory and autonomic functions, thus inter...Peripheral nerves form a complex network connecting the central nervous system and the body. Injuries to peripheral nerves often lead to partial or complete loss of motor, sen- sory and autonomic functions, thus interfering with many aspects of an individual's life.展开更多
There is a close relationship between the hy—brid rice production and seed purity.Two-linehybrid rice with higher heterosis is producedthrough the hybridization between a photo-thermo sensitive genetic male sterile(G...There is a close relationship between the hy—brid rice production and seed purity.Two-linehybrid rice with higher heterosis is producedthrough the hybridization between a photo-thermo sensitive genetic male sterile(GMS) rice line and a paternal variety.But the fertili-展开更多
BACKGROUND Congenital nephrogenic diabetes insipidus(CNDI)is a rare hereditary disorder.It is associated with mutations in the arginine vasopressin receptor 2(AVPR2)gene and aquaporin 2(AQP2)gene,and approximately 270...BACKGROUND Congenital nephrogenic diabetes insipidus(CNDI)is a rare hereditary disorder.It is associated with mutations in the arginine vasopressin receptor 2(AVPR2)gene and aquaporin 2(AQP2)gene,and approximately 270 different mutation sites have been reported for AVPR2.Therefore,new mutations and new manifestations are crucial to complement the clinical deficiencies in the diagnosis of this disease.We report a case of a novel AVPR2 gene mutation locus and a new clinical manifestation.CASE SUMMARY We describe the case of a 48-d-old boy who presented with recurrent fever and diarrhea 5 d after birth.Laboratory tests showed electrolyte disturbances and low urine specific gravity,and imaging tests showed no abnormalities.Genetic testing revealed a novel X-linked recessive missense mutation,c.283(exon 2)C>T(p.P95S).This mutation results in the substitution of a proline residue with a serine residue in the AVPR2 protein sequence.The diagnosis of CNDI was confirmed based on the AVPR2 gene mutation.The treatment strategy for this patient was divided into two stages,including physical cooling supplemented with appropriate amounts of water in the early stage and oral hydrochlorothiazide(1-2 mg/kg)after a clear diagnosis.After follow-up of one and a half years,the patient gradually improved.CONCLUSION AVPR2 gene mutations in new loci and new clinical symptoms help clinicians understand this disease and shorten the diagnosis cycle.展开更多
Much progress has been made in the research of breeding new rice line through gene engineering by Life Science College of Fudan Univ, Shanghai, and the Plant Science Res Inst of Shanghai Acad of Agri. It was the first...Much progress has been made in the research of breeding new rice line through gene engineering by Life Science College of Fudan Univ, Shanghai, and the Plant Science Res Inst of Shanghai Acad of Agri. It was the first time internationally that the research adopted a man-combined gene, taking agrobacterium as car-展开更多
[Objectives]This study was conducted to breed special pig breeds resistant to diarrhea by using modern biotechnology.[Methods]From Guizhou local breeds,such as Nuogu pigs,Kele pig,Yorkshire pigs and Duroc pigs,190 sam...[Objectives]This study was conducted to breed special pig breeds resistant to diarrhea by using modern biotechnology.[Methods]From Guizhou local breeds,such as Nuogu pigs,Kele pig,Yorkshire pigs and Duroc pigs,190 samples were collected for the analysis of anti-diarrhea gene.[Results]The anti-diarrhea genotype frequency of Kele pigs was 70.00%,which was higher than that of Nuogu pigs(67.37%)and Yorkshire pigs(Yorkshire pigs and Duroc pigs)(50.59%).The favorable anti-diarrhea gene of all Nuogu pigs,Kele pigs,and Yorkshire pigs and Duroc pigs was G,with gene frequencies of 0.7355,0.8368 and 0.8500,respectively,and the frequencies of allele A were 0.2645,0.1632 and 0.1500,respectively.In the process of generation selection,combination selection of GG♂×GG♀,GG♂×GA♀,GA♂×GG♀and GA♂×GA♀was conducted,and GG individuals were selected while gradually phasing out GA and AA individuals.The anti-diarrhea genotypes of 98 pigs in the offspring were tested,and it was found that the frequency of genotype GG was greatly improved,and the frequencies in Nuogu pigs,Kele pigs,Yorkshire pigs and Duroc pigs were increased to 73.91%,81.82%,85.25%and 66.67%respectively,thus forming a special anti-diarrhea breed.[Conclusions]This study provides a basis for selecting excellent breeding pigs,establishing core populations and screening resistance genes in the core populations and their offspring.展开更多
Low temperature is one of the main environmental stress factors influenc- ing plant growth and development and crop yield. Cold tolerance genes and progress of their application in genetic engineering of plant for col...Low temperature is one of the main environmental stress factors influenc- ing plant growth and development and crop yield. Cold tolerance genes and progress of their application in genetic engineering of plant for cold tolerance were reviewed comprehensively and systematically from the aspect of genes that are in- volved in biosynthesis of osmotic substances, genes coding fatty acid desaturation enzymes, antifreeze protein genes, genes coding antioxidant enzymes and so on, aiming at laying the foundation for genetic improvement of cold tolerance and breeding of plants.展开更多
Many genetic loci for wheat plant height(PH) have been reported, and 26 dwarfing genes have been catalogued. To identify major and stable genetic loci for PH, here we thoroughly summarized these functionally or geneti...Many genetic loci for wheat plant height(PH) have been reported, and 26 dwarfing genes have been catalogued. To identify major and stable genetic loci for PH, here we thoroughly summarized these functionally or genetic verified dwarfing loci from QTL linkage analysis and genome-wide association study published from 2003 to 2022. A total of 332 QTL, 270 GWAS loci and 83 genes for PH were integrated onto chromosomes according to their locations in the IWGSC RefSeq v2.1 and 65 QTL-rich clusters(QRC) were defined. Candidate genes in each QRC were predicted based on IWGSC Annotation v2.1 and the information on functional validation of homologous genes in other species. A total of 38 candidate genes were predicted for 65 QRC including three GA2ox genes in QRC-4B-IV, QRC-5A-VIII and QRC-6A-II(Rht24) as well as GA 20-oxidase 2(TaSD1-3A) in QRC-3A-IV. These outcomes lay concrete foundations for mapbased cloning of wheat dwarfing genes and application in breeding.展开更多
Exploring the molecular mechanism of soybean response to drought stress,providing a basis for genetic improvement and breeding of heat-resistant varieties,relying on the transcriptome sequencing data of unpollinated o...Exploring the molecular mechanism of soybean response to drought stress,providing a basis for genetic improvement and breeding of heat-resistant varieties,relying on the transcriptome sequencing data of unpollinated ovary at the seven-leaf stage of soybean Jinong 18(JN18)and Jinong 18 mutant(JB18)soybeans,using reverse transcription,one gene in the sHSP family was cloned using PCR(RT-PCR)and it was named sHSP26.In this experiment,the soybean sHSP26 gene was successfully cloned by RT-PCR,the protein encoded by the sHSP26 gene was analyzed by bioinformatics,and the sHSP26 gene overexpression vector and CRISPR/Cas9 gene-editing vector were constructed.The positive plants were derived from Agrobacterium-mediated transformation of soybean cotyledon nodes,and T2 plants were identified through conventional PCR,QT-PCR,and Southern blot hybridization.Finally,through the determination of drought-related physiological and biochemical indicators and the analysis of agronomic traits,further research on gene function was conducted.The results indicated that the overexpression vector plant GmsHSP26 gene expression increased.After stress,the SOD and POD activities,and the PRO content of the transgenic overexpression plants increased,while the MDA content decreased.The reverse was true for soybean plants with genetically modified editing vectors.A survey of agronomic traits indicated that the fourpod ratio and yield per plant of the transgenic overexpression plants were higher than those of the control and transgenic editing vector soybean plants.It indicates that the expression of the sHSP26 gene can enhance drought resistance and soybean yield.The soybean sHSP26 gene cloning and its functional verification have not yet been reported.This is the first report where PCR amplification of soybean sHSP26 genes and gene expression vector were applied.It lays the foundation for creating new drought-resistant transgenic soybean lines through genetic engineering technology and is essential for improving soybean yield and quality.展开更多
Herein we describe a new species,Leptobrachella yunyangensis sp.nov.,from Yunyang County,Chongqing City,China,based on a combination of molecular and morphological data.Phylogenetic analysis based on the mitochondrial...Herein we describe a new species,Leptobrachella yunyangensis sp.nov.,from Yunyang County,Chongqing City,China,based on a combination of molecular and morphological data.Phylogenetic analysis based on the mitochondrial 16 S rRNA gene and six nuclear genes indicated that this new species represented an independent evolutionary lineage.The uncorrected genetic distance between the new species and its closest congener species,L.oshanensis,was 5.4 % for 16 S rRNA.The new species can be distinguished from its congeners by a combination of the following characters:(1) moderate body size(SVL28.3-30.6 mm in males);(2) rough dorsal skin,with sparse large granules and tubercles and short longitudinal ridges on the shoulder;(3) distinctly discernible tympanum with a diameter smaller than that of the eye(TMP/EYE ratio:0.51) and a distinct black supra tympanic line present;(4)an internasal distance almost equal to interorbital distance(IND/IOD ratio:1.05);(5) flanks with several dark spots arranged longitudinally in two rows;(6) distinctly visible supra-axilla ry,femoral,pectoral,a nd ventrola teral glands;(7) bicolored iris,with the upper 1/3 of the iris being copper orange and the lower 2/3 a light silvery grey;(8) relative finger lengths of Ⅰ <Ⅱ=Ⅳ <Ⅲ and relative toe lengths of Ⅰ <Ⅱ <Ⅴ <Ⅲ <Ⅳ;(9) absence of webbing and lateral fringes on fingers,and toes with rudimentary webbing and narrow lateral fringes;(10) heels overlapping when the thighs are positioned at right angles to the body;(11) tibiotarsal articulation reaching to the anterior corner of the eye when the leg is stretched forward;(12) ventral surfaces of the throat,chest,and belly greyish white with purple-brown speckling;(13) lacking distinct blackish dorsolateral markings;and(14) transverse dark brown bars on the surfaces of limbs and digits.展开更多
Insulin like growth factors2 (IGF2) regulates pancreatic β-cell renewal and apoptosis, which in turn plays a role in altering insulin activity and glucose homeostasis. Polymorphisms in IGF2 gene have been associated ...Insulin like growth factors2 (IGF2) regulates pancreatic β-cell renewal and apoptosis, which in turn plays a role in altering insulin activity and glucose homeostasis. Polymorphisms in IGF2 gene have been associated with altered levels of IGF2. Hence, ApaI polymorphism in exon 9 of IGF2 (rs#680) gene was assessed in patients with end stage renal disease (ESRD) to identify individuals at risk of developing new onset diabetes mellitus (NODM) in Asian Indians. Isolated DNA was used for PCR&RFLP based genotyping of IGF2 ApaI polymorphism which was carried out in 364 individuals these included 140 patients who had undergone renal transplant, 42 of which developed new onset diabetes mellitus after renal transplant and 224 healthy control volunteers. In the present study NODM or post transplant diabetes mellitus (PTDM) showed a significant association with G allele and AG genotype when compared with the Non-NODM ESRD patients after transplant (OR 2.081, 95% CI = 1.191 - 3.634, p = 0.01 and OR 3.188, 95% CI = 1.498 - 6.785, p = 0.002) ESRD patients with healthy controls also showed an association with G allele and AG genotype (OR 1.512, 95% CI = 1.060 - 2.155, p = 0.02 and OR 2.235, 95% CI = 1.453 - 3.438, p = 0.0002). IGF2 could be used as a biomarker to identify individuals at high risk of developing NODM, it would be a valuable asset in selecting appropriate immunosuppressive regimens for individuals undergoing transplant. Present study shows the importance of IGF2 ApaI polymorphism in assessing the risk of NODM in ESRD individuals in Asian Indians with ESRD.展开更多
Two cyanobacterial strains CHAB5870 and CHAB5871 morphologically identifi ed as Nostoc-like species were isolated from different habitats in China,and they were phylogenetically and taxonomically characterized based o...Two cyanobacterial strains CHAB5870 and CHAB5871 morphologically identifi ed as Nostoc-like species were isolated from different habitats in China,and they were phylogenetically and taxonomically characterized based on a polyphasic approach combining morphological,ecological,and molecular data.In the 16S rRNA gene phylogeny inferred using maximum likelihood,maximum-parismony,and bayesian inference methods,these two strains clustered within the Pseudoaliinostoc clade.The 16S rRNA gene sequences of these two strains displayed≥95.5%and≤98%similarity to Pseudoaliinostoc species,which indicated them to represent new species of the genus Pseudoaliinostoc.Furthermore,the unique pattern of D1-D1′and Box-B helix of the 16S–23S rRNA internal transcribed spacer(ITS)secondary structure also revealed that two strains represented novel species.These results supported the establishment of two new Pseudoaliinostoc species with the name P.jiangxiense sp.nov.and P.yunnanense sp.nov.展开更多
Objective:To develop new therapeutic strategies for diabetes mellitus(DM)by analyzing the mechanisms of action of traditional Chinese medicine(TCM)'xiaoke'formulae(TCM prescriptions for remedying xiaoke).Metho...Objective:To develop new therapeutic strategies for diabetes mellitus(DM)by analyzing the mechanisms of action of traditional Chinese medicine(TCM)'xiaoke'formulae(TCM prescriptions for remedying xiaoke).Methods:We characterized 291 xiaoke formulae,including the herbs contained,chemical composition,constituents'targets,and corresponding genes.Xiaoke-related genes were retrieved based on the relationships of constituents'targets and xiaoke formulae,and a threshold of over 95.88%occurrence of each constituent target in the 291 TCM formulae served as a definition for xiaoke-related genes.Upon comparison with DM-related genes in the DisGeNET database,the genes differing in expression between cases administered TCM and synthetic drugs were explored using a TCM grammar system.Results:The results showed that xiaoke formulae and 14 exclusively xiaoke-related genes were significantly associated with multiple biological processes closely related to DM and diabetic complications(P<.01).Moreover,intervention in the expression of these xiaoke-related genes would affect DM-related genes directly or indirectly.Conclusion:The 14 xiaoke-related genes APEX1,EHMT2,TSHR,CBX1,FEN1,GMNN,JUN,KMT2A,MAPT,POLl,USP1,PIN1,POLB,and POLK can serve as candidate genes for antidiabetic drug design.Compared with DM-related genes in DisGeNET,intervention in the expression of 14 xiaoke-related genes by TCM formulae has the potential to not only lower blood glucose,but also reduce the occurrence of some side effects and inhibit the development of diabetic complications.These findings will contribute to the discovery of new strategies for treating DM.展开更多
Myanmarorchestia victoria sp. nov. is described from high altitude habitats in Myanmar. The new species differs morphologically from its congeners by palp of maxilliped narrow; sexually dimorphic gnathopod II, propodu...Myanmarorchestia victoria sp. nov. is described from high altitude habitats in Myanmar. The new species differs morphologically from its congeners by palp of maxilliped narrow; sexually dimorphic gnathopod II, propodus of male chelate and propodus of female mitten-shaped; and dimorphic uropod II, outer ramus of male with small teeth distally, outer ramus of female with three distal spines. Analysis of DNA barcode sequences and niche distinctiveness support recognition of the new species展开更多
目的分析血红蛋白(Hb)New York在不同年龄段的携带人群中的表达差异。方法收集2017-10~2020-03在该院体检、就诊的103351例外周血和脐带血,55909例新生儿末梢血,对筛查结果为Hb New York的样本进行血液学分析和基因型检测。结果携带Hb N...目的分析血红蛋白(Hb)New York在不同年龄段的携带人群中的表达差异。方法收集2017-10~2020-03在该院体检、就诊的103351例外周血和脐带血,55909例新生儿末梢血,对筛查结果为Hb New York的样本进行血液学分析和基因型检测。结果携带Hb New York的样本共185例,其中脐带血4例,新生儿58例,成人123例。胎儿脐带血中Hb New York的含量为(1.30±0.94)%,新生儿含量为(7.87±6.21)%,成人含量为(43.30±2.83)%。携带Hb New York的成人血液学参数均处于正常参考值范围,除红细胞平均血红蛋白浓度(MCHC)外,其他参数与正常成人对照组比较差异均有统计学意义。基因检测显示,Hb New York杂合子167例,Hb New York复合静止型α-地贫7例,Hb New York复合轻型α-地贫11例。结论Hb New York在不同年龄人群的含量不同,与β珠蛋白基因的表达水平正相关。携带者血液学表型正常,合并地贫易表现为贫血,在地贫筛查与婚检、孕检的遗传咨询中值得关注。展开更多
基金This work was supported by the Chinese 973 Program (Grant Nos. G1999011606 & G1999011604).
文摘Application and functional study of dwarf and semi-dwarf genes are of great importance to both crop breeding and molecular biology. A new semi-dwarf gene, sd-t(t), non-allelic to sd-1,had been identified in an indica rice variety, Aitaiyin 2. In this study the gene was genetically mapped by using an F2 population, which consisted of 474 individuals developed from a cross between Aitaiyin 2 and B30. The sd-t(t) gene was located between the RFLP markers R514 and R1408B with a distance of 1.1 cM to R514, and 4.5 cM to R1408B on chromosome 4. A physical contig covering the sd-t(t) mapping region was further constructed by screening a BAC library with R514 and R1408B as probes, and the physical distance between R514 and R1408B was estimated at approximately 147 kb. This result will facilitate map-based cloning of the sd-t(t) gene.
基金a CAS-Max Planck Society Fellowship, an award (No. 30325016);the National Science Foundation of China (NSFC),two NSFC key grants (No. 30430400 and 30623007)the National Basic Research Program of China (973 Program)(No. 2007CB815703-5)W.W., and a NSFC grant(No.30500283)for junior researchers to S.Y.
文摘The inherent interest on the origin of genetic novelties can be traced back to Darwin. But it was not until recently that we were allowed to investigate the fundamental process of origin of new genes by the studies on newly evolved young genes. Two indispensible steps are involved in this process: origin of new gene copies through various mutational mechanisms and evolution of novel functions, which fur- ther more leads to fixation of the new copies within populations. The theoretical framework for the former step formed in 1970s. Ohno proposed gene duplication as the most important mechanism producing new gene copies. He also believed that the most common fate for new gene copies is to become pseudogenes. This classical view was validated and was also challenged by the characterization of the first functional young gene jingwei in Drosophila. Recent genome-wide comparison on young genes of Drosophila has elucidated a compre- hensive picture addressing remarkable roles of various mechanisms besides gene duplication during origin of new genes. Case surveys revealed it is not rare that new genes would evolve novel structures and functions to contribute to the adaptive evolution of organisms. Here, we review recent advances in understanding how new genes originated and evolved on the basis of genome-wide results and ex- perimental efforts on cases. We would finally discuss the future directions of this fast-growing research field in the context of functional genomics era.
文摘People living on the high plateaus of the world have long fascinated biological anthropologists and geneticists because they live in "thin air" and epitomize an extreme of human biological adaptation.
基金This work was supported by the grants of National Natural Science Foundation of China(No.3037863)Natural Science Foundation of Anhui Province,China(No.01041103).
文摘Six pairs of tall and dwarf near-isogenic lines derived from a dominant semi-dwarf mutant (Y98149) were selected to study height expression and sensitivity to gibberellic acid (GA3). The lengths of the 4-5th internode, the 3rd, 2nd, 1st internodes from the top and the panicle length in the six dwarf near isogenic lines were 97.2%, 53.3%, 65.1%, 61.9% and 94.7% of those in the six tall ones, respectively, indicating that the dominant semi-dwarfing gene significantly inhibited the internode elongation. Moreover, Y98149 (mutant type) was more sensitive to GA3 than Y98148 (wild type), and had a lower GA3 concentration in plant, about 78% of Y98148.
基金Key Health Science and Technology Development Project of Nanjing City,Jiangsu Province,No.ZKX19038.
文摘BACKGROUND The SETD1B gene is instrumental in human intelligence and nerve development.Mutations in the SETD1B gene have been linked in recent studies to neurodevelopmental disorders,seizures,and language delay.CASE SUMMARY This study aimed to analyze the clinical manifestations and treatment of three patients suffering from mental retardation,epilepsy,and language delay resulting from a new mutation in the SETD1B gene.Three individuals with these symptoms were selected,and their clinical symptoms,gene test results,and treatment were analyzed.This article discusses the impact of the SETD1B gene mutation on patients and outlines the treatment approach.Among the three patients(two females and one male,aged 8,4,and 1,respectively),all exhibited psychomotor retardation,attention deficit,and hyperactivity disorder,and two had epilepsy.Antiepileptic treatment with sodium tripolyvalproate halted the seizures in the affected child,although mental development remained somewhat delayed.Whole exome sequencing revealed new mutations in the SETD1B gene for all patients,specifically with c.5473C>T(p.Arg1825trp),c.4120C>T(p.Gln1374*,593),c.14_15insC(p.His5Hisfs*33).CONCLUSION Possessing the SETD1B gene mutation may cause mental retardation accompanied by seizures and language delay.Although the exact mechanism is not fully understood,interventions such as drug therapy,rehabilitation training,and family support can assist patients in managing their symptoms and enhancing their quality of life.Furthermore,genetic testing supplies healthcare providers with more precise diagnostic and therapeutic guidance,informs families about genetic disease risks,and contributes to understanding disease pathogenesis and drug research and development.
基金funding from the European Community’s Seventh Framework Program(FP7-HEALTH-2011)under grant agreement,No.278612(BIOHYBRID)
文摘Peripheral nerves form a complex network connecting the central nervous system and the body. Injuries to peripheral nerves often lead to partial or complete loss of motor, sen- sory and autonomic functions, thus interfering with many aspects of an individual's life.
文摘There is a close relationship between the hy—brid rice production and seed purity.Two-linehybrid rice with higher heterosis is producedthrough the hybridization between a photo-thermo sensitive genetic male sterile(GMS) rice line and a paternal variety.But the fertili-
文摘BACKGROUND Congenital nephrogenic diabetes insipidus(CNDI)is a rare hereditary disorder.It is associated with mutations in the arginine vasopressin receptor 2(AVPR2)gene and aquaporin 2(AQP2)gene,and approximately 270 different mutation sites have been reported for AVPR2.Therefore,new mutations and new manifestations are crucial to complement the clinical deficiencies in the diagnosis of this disease.We report a case of a novel AVPR2 gene mutation locus and a new clinical manifestation.CASE SUMMARY We describe the case of a 48-d-old boy who presented with recurrent fever and diarrhea 5 d after birth.Laboratory tests showed electrolyte disturbances and low urine specific gravity,and imaging tests showed no abnormalities.Genetic testing revealed a novel X-linked recessive missense mutation,c.283(exon 2)C>T(p.P95S).This mutation results in the substitution of a proline residue with a serine residue in the AVPR2 protein sequence.The diagnosis of CNDI was confirmed based on the AVPR2 gene mutation.The treatment strategy for this patient was divided into two stages,including physical cooling supplemented with appropriate amounts of water in the early stage and oral hydrochlorothiazide(1-2 mg/kg)after a clear diagnosis.After follow-up of one and a half years,the patient gradually improved.CONCLUSION AVPR2 gene mutations in new loci and new clinical symptoms help clinicians understand this disease and shorten the diagnosis cycle.
文摘Much progress has been made in the research of breeding new rice line through gene engineering by Life Science College of Fudan Univ, Shanghai, and the Plant Science Res Inst of Shanghai Acad of Agri. It was the first time internationally that the research adopted a man-combined gene, taking agrobacterium as car-
基金Supported by Guizhou Provincial Department of Agriculture and Rural Affairs Project(QNYZZZ[2017]No.12)2024 Quality Supervision and Sampling Project of Normal Temperature Semen for Breeding Pigs.
文摘[Objectives]This study was conducted to breed special pig breeds resistant to diarrhea by using modern biotechnology.[Methods]From Guizhou local breeds,such as Nuogu pigs,Kele pig,Yorkshire pigs and Duroc pigs,190 samples were collected for the analysis of anti-diarrhea gene.[Results]The anti-diarrhea genotype frequency of Kele pigs was 70.00%,which was higher than that of Nuogu pigs(67.37%)and Yorkshire pigs(Yorkshire pigs and Duroc pigs)(50.59%).The favorable anti-diarrhea gene of all Nuogu pigs,Kele pigs,and Yorkshire pigs and Duroc pigs was G,with gene frequencies of 0.7355,0.8368 and 0.8500,respectively,and the frequencies of allele A were 0.2645,0.1632 and 0.1500,respectively.In the process of generation selection,combination selection of GG♂×GG♀,GG♂×GA♀,GA♂×GG♀and GA♂×GA♀was conducted,and GG individuals were selected while gradually phasing out GA and AA individuals.The anti-diarrhea genotypes of 98 pigs in the offspring were tested,and it was found that the frequency of genotype GG was greatly improved,and the frequencies in Nuogu pigs,Kele pigs,Yorkshire pigs and Duroc pigs were increased to 73.91%,81.82%,85.25%and 66.67%respectively,thus forming a special anti-diarrhea breed.[Conclusions]This study provides a basis for selecting excellent breeding pigs,establishing core populations and screening resistance genes in the core populations and their offspring.
基金Supported by National Natural Science Foundation of China(30871512,31000701)Startup Foundation for Advanced Talents of Henan Academy of Agricultural Sciences(2060503)~~
文摘Low temperature is one of the main environmental stress factors influenc- ing plant growth and development and crop yield. Cold tolerance genes and progress of their application in genetic engineering of plant for cold tolerance were reviewed comprehensively and systematically from the aspect of genes that are in- volved in biosynthesis of osmotic substances, genes coding fatty acid desaturation enzymes, antifreeze protein genes, genes coding antioxidant enzymes and so on, aiming at laying the foundation for genetic improvement of cold tolerance and breeding of plants.
基金funded by the National Natural Science Foundation of China (32101733)Shandong Provincial Natural Science Foundation (ZR202103020229)+1 种基金the High-Level Talents Project of Qingdao Agricultural University (663/1122023)National Natural Science Foundation of China Regional Innovation and Development Joint Fund Project (U22A20457)。
文摘Many genetic loci for wheat plant height(PH) have been reported, and 26 dwarfing genes have been catalogued. To identify major and stable genetic loci for PH, here we thoroughly summarized these functionally or genetic verified dwarfing loci from QTL linkage analysis and genome-wide association study published from 2003 to 2022. A total of 332 QTL, 270 GWAS loci and 83 genes for PH were integrated onto chromosomes according to their locations in the IWGSC RefSeq v2.1 and 65 QTL-rich clusters(QRC) were defined. Candidate genes in each QRC were predicted based on IWGSC Annotation v2.1 and the information on functional validation of homologous genes in other species. A total of 38 candidate genes were predicted for 65 QRC including three GA2ox genes in QRC-4B-IV, QRC-5A-VIII and QRC-6A-II(Rht24) as well as GA 20-oxidase 2(TaSD1-3A) in QRC-3A-IV. These outcomes lay concrete foundations for mapbased cloning of wheat dwarfing genes and application in breeding.
基金the Jilin Province Education Department Science and Technology Research Project[JJKH20210350KJ]the Jilin Province Science and Technology Guidance Program Project[20200402023NC]+1 种基金the Jilin Provincial Natural Science Foundation Project[20200201027JC]the Innovation and Entrepreneurship Training Program for College Students in Jilin Province[2021]。
文摘Exploring the molecular mechanism of soybean response to drought stress,providing a basis for genetic improvement and breeding of heat-resistant varieties,relying on the transcriptome sequencing data of unpollinated ovary at the seven-leaf stage of soybean Jinong 18(JN18)and Jinong 18 mutant(JB18)soybeans,using reverse transcription,one gene in the sHSP family was cloned using PCR(RT-PCR)and it was named sHSP26.In this experiment,the soybean sHSP26 gene was successfully cloned by RT-PCR,the protein encoded by the sHSP26 gene was analyzed by bioinformatics,and the sHSP26 gene overexpression vector and CRISPR/Cas9 gene-editing vector were constructed.The positive plants were derived from Agrobacterium-mediated transformation of soybean cotyledon nodes,and T2 plants were identified through conventional PCR,QT-PCR,and Southern blot hybridization.Finally,through the determination of drought-related physiological and biochemical indicators and the analysis of agronomic traits,further research on gene function was conducted.The results indicated that the overexpression vector plant GmsHSP26 gene expression increased.After stress,the SOD and POD activities,and the PRO content of the transgenic overexpression plants increased,while the MDA content decreased.The reverse was true for soybean plants with genetically modified editing vectors.A survey of agronomic traits indicated that the fourpod ratio and yield per plant of the transgenic overexpression plants were higher than those of the control and transgenic editing vector soybean plants.It indicates that the expression of the sHSP26 gene can enhance drought resistance and soybean yield.The soybean sHSP26 gene cloning and its functional verification have not yet been reported.This is the first report where PCR amplification of soybean sHSP26 genes and gene expression vector were applied.It lays the foundation for creating new drought-resistant transgenic soybean lines through genetic engineering technology and is essential for improving soybean yield and quality.
基金supported by the programs of the Guizhou Province World-Class Discipline Construction Program Project (Qianjiao Key an Fa [2019] 125)the Biodiversity Survey and Assessment in Chongqing Counties (2021-090)+2 种基金the Postgraduate Education Innovation Programme of Guizhou Province (Qianjiaohe YJSKYJJ [2021] 091)the Strategic Priority Research Program B of the Chinese Academy of Sciences (CAS) (No.XDB31000000)the National Animal Collection Resource Center,China,the Application of Amphibian Natural Antioxidant Peptides as Cosmetic Raw Material Antioxidants (QKZYD [2020]4002)。
文摘Herein we describe a new species,Leptobrachella yunyangensis sp.nov.,from Yunyang County,Chongqing City,China,based on a combination of molecular and morphological data.Phylogenetic analysis based on the mitochondrial 16 S rRNA gene and six nuclear genes indicated that this new species represented an independent evolutionary lineage.The uncorrected genetic distance between the new species and its closest congener species,L.oshanensis,was 5.4 % for 16 S rRNA.The new species can be distinguished from its congeners by a combination of the following characters:(1) moderate body size(SVL28.3-30.6 mm in males);(2) rough dorsal skin,with sparse large granules and tubercles and short longitudinal ridges on the shoulder;(3) distinctly discernible tympanum with a diameter smaller than that of the eye(TMP/EYE ratio:0.51) and a distinct black supra tympanic line present;(4)an internasal distance almost equal to interorbital distance(IND/IOD ratio:1.05);(5) flanks with several dark spots arranged longitudinally in two rows;(6) distinctly visible supra-axilla ry,femoral,pectoral,a nd ventrola teral glands;(7) bicolored iris,with the upper 1/3 of the iris being copper orange and the lower 2/3 a light silvery grey;(8) relative finger lengths of Ⅰ <Ⅱ=Ⅳ <Ⅲ and relative toe lengths of Ⅰ <Ⅱ <Ⅴ <Ⅲ <Ⅳ;(9) absence of webbing and lateral fringes on fingers,and toes with rudimentary webbing and narrow lateral fringes;(10) heels overlapping when the thighs are positioned at right angles to the body;(11) tibiotarsal articulation reaching to the anterior corner of the eye when the leg is stretched forward;(12) ventral surfaces of the throat,chest,and belly greyish white with purple-brown speckling;(13) lacking distinct blackish dorsolateral markings;and(14) transverse dark brown bars on the surfaces of limbs and digits.
文摘Insulin like growth factors2 (IGF2) regulates pancreatic β-cell renewal and apoptosis, which in turn plays a role in altering insulin activity and glucose homeostasis. Polymorphisms in IGF2 gene have been associated with altered levels of IGF2. Hence, ApaI polymorphism in exon 9 of IGF2 (rs#680) gene was assessed in patients with end stage renal disease (ESRD) to identify individuals at risk of developing new onset diabetes mellitus (NODM) in Asian Indians. Isolated DNA was used for PCR&RFLP based genotyping of IGF2 ApaI polymorphism which was carried out in 364 individuals these included 140 patients who had undergone renal transplant, 42 of which developed new onset diabetes mellitus after renal transplant and 224 healthy control volunteers. In the present study NODM or post transplant diabetes mellitus (PTDM) showed a significant association with G allele and AG genotype when compared with the Non-NODM ESRD patients after transplant (OR 2.081, 95% CI = 1.191 - 3.634, p = 0.01 and OR 3.188, 95% CI = 1.498 - 6.785, p = 0.002) ESRD patients with healthy controls also showed an association with G allele and AG genotype (OR 1.512, 95% CI = 1.060 - 2.155, p = 0.02 and OR 2.235, 95% CI = 1.453 - 3.438, p = 0.0002). IGF2 could be used as a biomarker to identify individuals at high risk of developing NODM, it would be a valuable asset in selecting appropriate immunosuppressive regimens for individuals undergoing transplant. Present study shows the importance of IGF2 ApaI polymorphism in assessing the risk of NODM in ESRD individuals in Asian Indians with ESRD.
基金Supported by the National Natural Science Foundation of China(No.32000166)。
文摘Two cyanobacterial strains CHAB5870 and CHAB5871 morphologically identifi ed as Nostoc-like species were isolated from different habitats in China,and they were phylogenetically and taxonomically characterized based on a polyphasic approach combining morphological,ecological,and molecular data.In the 16S rRNA gene phylogeny inferred using maximum likelihood,maximum-parismony,and bayesian inference methods,these two strains clustered within the Pseudoaliinostoc clade.The 16S rRNA gene sequences of these two strains displayed≥95.5%and≤98%similarity to Pseudoaliinostoc species,which indicated them to represent new species of the genus Pseudoaliinostoc.Furthermore,the unique pattern of D1-D1′and Box-B helix of the 16S–23S rRNA internal transcribed spacer(ITS)secondary structure also revealed that two strains represented novel species.These results supported the establishment of two new Pseudoaliinostoc species with the name P.jiangxiense sp.nov.and P.yunnanense sp.nov.
基金the National Natural Science Foundation of China(81673697 and 81373985).
文摘Objective:To develop new therapeutic strategies for diabetes mellitus(DM)by analyzing the mechanisms of action of traditional Chinese medicine(TCM)'xiaoke'formulae(TCM prescriptions for remedying xiaoke).Methods:We characterized 291 xiaoke formulae,including the herbs contained,chemical composition,constituents'targets,and corresponding genes.Xiaoke-related genes were retrieved based on the relationships of constituents'targets and xiaoke formulae,and a threshold of over 95.88%occurrence of each constituent target in the 291 TCM formulae served as a definition for xiaoke-related genes.Upon comparison with DM-related genes in the DisGeNET database,the genes differing in expression between cases administered TCM and synthetic drugs were explored using a TCM grammar system.Results:The results showed that xiaoke formulae and 14 exclusively xiaoke-related genes were significantly associated with multiple biological processes closely related to DM and diabetic complications(P<.01).Moreover,intervention in the expression of these xiaoke-related genes would affect DM-related genes directly or indirectly.Conclusion:The 14 xiaoke-related genes APEX1,EHMT2,TSHR,CBX1,FEN1,GMNN,JUN,KMT2A,MAPT,POLl,USP1,PIN1,POLB,and POLK can serve as candidate genes for antidiabetic drug design.Compared with DM-related genes in DisGeNET,intervention in the expression of 14 xiaoke-related genes by TCM formulae has the potential to not only lower blood glucose,but also reduce the occurrence of some side effects and inhibit the development of diabetic complications.These findings will contribute to the discovery of new strategies for treating DM.
基金supported by the Southeast Asia Biodiversity Research Institute,Chinese Academy of Sciences(Y4ZK111B01)the National Natural Sciences Foundation of China(NSFC-31422048/31372156)a grant for Science and Technology Basic Research(2014FY210700)
文摘Myanmarorchestia victoria sp. nov. is described from high altitude habitats in Myanmar. The new species differs morphologically from its congeners by palp of maxilliped narrow; sexually dimorphic gnathopod II, propodus of male chelate and propodus of female mitten-shaped; and dimorphic uropod II, outer ramus of male with small teeth distally, outer ramus of female with three distal spines. Analysis of DNA barcode sequences and niche distinctiveness support recognition of the new species
文摘目的分析血红蛋白(Hb)New York在不同年龄段的携带人群中的表达差异。方法收集2017-10~2020-03在该院体检、就诊的103351例外周血和脐带血,55909例新生儿末梢血,对筛查结果为Hb New York的样本进行血液学分析和基因型检测。结果携带Hb New York的样本共185例,其中脐带血4例,新生儿58例,成人123例。胎儿脐带血中Hb New York的含量为(1.30±0.94)%,新生儿含量为(7.87±6.21)%,成人含量为(43.30±2.83)%。携带Hb New York的成人血液学参数均处于正常参考值范围,除红细胞平均血红蛋白浓度(MCHC)外,其他参数与正常成人对照组比较差异均有统计学意义。基因检测显示,Hb New York杂合子167例,Hb New York复合静止型α-地贫7例,Hb New York复合轻型α-地贫11例。结论Hb New York在不同年龄人群的含量不同,与β珠蛋白基因的表达水平正相关。携带者血液学表型正常,合并地贫易表现为贫血,在地贫筛查与婚检、孕检的遗传咨询中值得关注。