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molecular Diagnosis of Sexual Differentiation Disorders in Burkina Faso

Journal of Biosciences and Medicines 2024年第3期12卷 1-15页

作者： Bazie Bapio Valérie Elvira Jean Télesphore Sawadogo Soumaïla Zohoncon Théodora Mahoukèdè Tall Ahmadou Bado Prosper Soubeiga Serge Théophile Ouattara Moussa Sorgho Abel Kiendrebeogo Touwendpoulimdé Isabelle Yonli Albert Theophane Djigma Florencia Millogo/Traore Timongo Françoise Danielle Simpore Jacques Centre National de la Recherche Scientifique et Technologique (CNRST) Institut de Recherche en Sciences de la Santé (IRSS) Ouagadougou Burkina Faso Université Joseph KI-ZERBO Unité de Formation en Sciences de la Vie et de la Terre Laboratoire de Biologie Moléculaire et de Génétique (LABIOGENE) Ouagadougou Burkina Faso Centre de Recherche Biomoléculaire Pietro Annigonie (CERBA) Ouagadougou Burkina Faso Centre Hospitalier Universitaire Régional de Ouahigouya Ouagadougou Burkina Faso Centre Hospitalier Universitaire Yalgado Ouedraogo Université Joseph Ki-Zerbo Ouagadougou Burkina Faso

Sex development anomalies represent a group of congenital pathologies in which chromosomal, gonadal and anatomical sex differentiation is atypical. The aim of our study was to use molecular biology techniques to elucidate sex in cases of anomalies of sexual differentiation in Burkina Faso. This cross-sectional study took place from March 2023 to June 2023. Oral and blood samples were collected respectively using sterile swabs and stored on Swab Kits and NUCLEIcardTM (https://***/product-ranges/nucleic-card/) were used to determine gonosome profiles. Extraction was carried out using the DNA Swap solution Kit and the DNA IQ System Kit, and a PowerPlex? 21 kit (Promega) for amplification. The Applied Biosystems 9700 thermal cycler was used for PCR followed by 36 cm capillary electrophoresis in the Applied Biosystems 3130 prism sequencer. Sequence files were analyzed using GeneMapper IDX v. 3.2 software. Seven (07) patients were registered during the study period. There were 4 cases of XX DSD or 46, XX DSD and 3 cases of XY DSD or 46, XY DSD. The median age of our patients was 16 years. Civilian sex was male in 4 cases and female in 3. The most frequent reason for consultation was micropenis in 3 cases, followed by primary amenorrhea and sex ambiguity. There were 03 cases of discrepancy between genetic sex and civil sex. The accessibility of molecular diagnosis is little known to clinicians. XX DSDs or 46, XX DSDs were the most frequent (4/7) in our study. The problem facing this situation is early diagnosis to help prevent complications in Burkina Faso.

关键词： Gonosome DSD Abnormal Sexual Development Burkina Faso

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Promoter of soybean early nodulin gene enod2B is induced by rhizobial Nod factors in transgenic rice

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Chinese Science Bulletin 2004年第4期49卷 343-349页

作者： WANGYanzhang YUGuanqiao SHENShanjiong ZHUJiabi National Laboratory of Plant molecular Genetics Institute of PlantPhysiology & Ecology.Shanghai Institutes of Biological sciences.Chi-nese Academy of sciences Shanghai 200032China

Nod factors, which are signaling molecules produced by Rhizobia, are the principal determinants of host specificity in Rhizobium-legume symbiosis. Nod factors can elicit a number of characteristic developmental responses in the roots of legumes, such as depolarization of the membrane potential in epidermal cells, specific expression of early nodulin genes and changes in the flux of calcium in root hairs, deformation of root hairs, cell division in the root cortex and formation of the nodule primordium. Whether the rice plant can respond to signaling molecules (i.e. Nod factors) is an important question, as it could establish the potential for symbiotic nitrogen fixation in rice. The promoter of the soy-bean (Glycine max) early nodulin gene Gmenod2B fused to the b-glucuronidase (GUS) reporter gene was used as a mo-lecular marker to explore whether Nod factors can be recog-nized by rice cells as signaling molecules. Transgenic rice plants harboring the chimeric gene Gmenod2BP-GUS were obtained via an Agrobacterium tumefaciens-mediated system. NodNGR factors produced by a broad-host-range Rhizobium strain NGR234(pA28) were used as probes to investigate the activity of the Gmenod2B promoter in rice. Our results showed that the early nodulin gene Gmenod2B promoter was induced by NodNGR factors in transgenic rice, and that it was specifically expressed in rice plant roots. Moreover, GUS gene expression driven by the Gmenod2B promoter in trans-genic rice was regulated by nitrogen status. These findings indicated that rice possessed the ability to respond to Nod factor signals, and that this signal transduction system re-sulted in activation of the Gmenod2B promoter. Thus, we predict that the Nod-factor inducible nodulin expression system, which is similar to Rhizobium-legume symbiosis, may also exist in rice.

关键词：大豆表皮细胞转基因稻根瘤菌 β-葡糖苷酸酶?A大豆转基因稻根瘤菌

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Sinorhizobium meliloti lsrB is involved in alfalfa root nodule development and nitrogen-fixing bacteroid differentiation

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Chinese Science Bulletin 2013年第33期58卷 4077-4083页

作者： TANG GuiRong LU DaWei WANG Dong LUO Li State Key Laboratory of Plant molecular Genetics Institute of Plant Physiology and EcologyShanghai Institutes for Biological SciencesChinese Academy of Sciences University of the Chinese Academy of sciences School of Life Science Anhui University

Rhizobia interact with host legumes to induce the formation of nitrogen-fixing nodules,which is very important in agriculture and *** development of nitrogen-fixing nodules is stringently regulated by host plants and rhizobial *** our previous work,a new Sinorhizobium meliloti LysR regulator gene(lsrB)was identified to be essential for alfalfa ***,how this gene is involved in alfalfa nodulation was not yet ***,we found that this gene was associated with prevention of premature nodule senescence and abortive bacteroid *** deficient alfalfa root nodules were induced by the in-frame deletion mutant of lsrB(lsrB1-2),which was similar to the plasmid-insertion mutant,*** senescence zones earlier appeared in these nodules where bacteroid differentiation was blocked at different stages from microscopy ***,oxidative bursts were observed in these nodules by DAB *** decreased expression of lipopolysaccharide core genes(lpsCDE)was correspondingly determined in these *** lipopolysaccharide is required for suppression of oxidative bursts or host cell *** findings demonstrate that the *** lsrB gene is involved in alfalfa root nodule development and bacteroid differentiation by suppressing oxidative bursts or defense responses in host cells.

关键词：苜蓿根瘤菌固氮根瘤分化抑制类菌体发育缺失突变体调节基因宿主细胞

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Conformational dynamics in GPCR signaling by NMR

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Magnetic Resonance Letters 2022年第3期2卷 139-146页

作者： Yunfei Hu Changwen Jin Joint Laboratory of the National Centers for Magnetic Resonance in Wuhan and in Beijing Wuhan430071China Beijing Nuclear Magnetic Resonance Center College of Chemistry and Molecular EngineeringPeking UniversityBeijing100871China State Key Laboratory of Magnetic Resonance and Atomic and molecular Physics National Center for Magnetic Resonance in WuhanKey Laboratory of Magnetic Resonance in Biological SystemsInnovation Academy for Precision Measurement Science and TechnologyChinese Academy of SciencesWuhan430071China

G-protein-coupled receptors(GPCRs)mediate a wide range of cellular responses to various ligands or stimuli,and are the most important drug targets associated with human *** major advances in GPCR structural biology have greatly deepened our understanding of its activation mechanism,the highly complex changes in the structural dynamics of GPCRs during activation remain underdetermined and their links to physiological functions largely *** nuclear magnetic resonance(NMR)spectroscopy is an essential technique that allows the characterization of protein structural dynamics at atomic level,and has been applied in the studies of GPCR structural-function relationship in the past ***,we summarize a few specific studies in which solution NMR methods were employed and provided novel insights into questions difficult to be addressed by other methods.

关键词： G-protein-coupled receptor(GPCR) Membrane protein Dynamics Nuclear magnetic resonance(NMR) Cell signaling

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Concentration fluctuation caused by reaction-diffusion coupling near catalytic active sites

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Chinese Journal of Chemical Engineering 2022年第10期50卷 254-263页

作者： Haolei Zhang Mingcan Zhao Yanping Li Chengxiang Li Wei Ge State Key Laboratory of Multiphase Complex Systems Institute of Process EngineeringChinese Academy of SciencesBeijing 100190China School of Chemical Engineering University of the Chinese Academy of SciencesBeijing 100049China Dalian National Laboratory for Clean Energy Chinese Academy of SciencesDalianLiaoning 116023China Innovation Academy for Green Manufacture Chinese Academy of SciencesBeijing 100049China

The coupling of reaction and diffusion between neighboring active sites in the catalyst pore leads to the spatiotemporal fluctuation in component concentration,which is very importa nt to catalyst performance and hence its optimal *** dynamics simulation with hard-sphere and pseudo-particle modeling has previously revealed the non-stochastic concentration fluctuation of the reactant/product near isolated active site due to such coupling,using a simple model reaction of A→B in 2D *** topic is further developed in this work by studying the concentration fluctuation due to such coupling between neighboring active sites in 3D *** 3D pore models containing an isolated active site and two adjacent active sites were constructed,*** the isolated site,the concentration fluctuation intensifies for larger pores,but the product yield decreases,and for a given pore size,the product yield reaches a peak at a certain reactant *** two neighboring sites,their distance(d)is found to have little effect on the reaction,but significant to the *** the same reaction competing at both sites,larger d leads to more efficient diffusion and better overall ***,for sequential reactions at the two sites,higher overall performance presents at a smaller *** results should be helpful to the catalyst design and reaction control in the relevant processes.

关键词： molecular dynamicssimulation Concentration fluctuation Reaction-diffusion coupling Catalyst

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Demonstration of Cold ^(40)Ca^(+) Ions Confined in a Microscopic Surface-Electrode Ion Trap

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Chinese Physics Letters 2013年第1期30卷 67-70页

作者：陈亮万威谢艺吴浩煜周飞冯芒 State Key Laboratory of Magnetic Resonance and Atomic and molecular Physics Wuhan Institute of Physics and MathematicsChinese Academy of SciencesWuhan 430071 University of Chinese Academy of sciences Beijing 100049

^(40)Ca^(+) ions are successfully confined,under the cooling of a red-detuned laser,in a home-built microscopic surface-electrode(MSE)*** all electrodes deposited on a low-rf-loss substrate,our 500-μm-scale MSE trap is designed involving three potential wells and manufactured by the standard technique of the printed circuit *** linear and two-dimensional crystals of ^(40)Ca^(+) are observed in the trap after preliminary micromotion compensation is carried *** development of the MSE trap aims at large-scale trapped-ion quantum information processing.

关键词： Electrode Surface manufactured

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Dynamics of synapse remodeling and glia motility in vivo

Dynamics of synapse remodeling and glia motility in vivo

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中国神经科学学会第九届全国学术会议暨第五次会员代表大会

作者： Junichi Nabekura Go Kato Kei Eto Kwan Sun Kim National Institute for physiological sciences(NIPS)

Recent advance in imaging techniques,*** MRI and PET,allows us to understand the activation of various brain ***,due to the spatial limitation of these approaches,it is difficult to observe more fine structures,*** and synapses in *** photon excitation of fluorescent molecules enables us to observe the fine structures and neuronal activity in the various organs and ***,we introduce two evidences of dynamics of neuronal structures and glia in the brain of living *** time imaging with two photon microscopy revealed that resting microglia,the primary immune effector cells in the brain,dynamically extend and retract their processes as if actively surveying the *** directly monitors the local synaptic states. Resting microglial processes make brief(～5 min) and direct contacts with neuronal synapses at a frequency of about once per *** transient cerebral ischemia the microglia-synapse contact periods were markedly prolonged ( hour),frequently followed by the disappearance of presynaptic *** striking finding of the synapse disappearance driven by microglial contact could contribute to an increased turnover of synaptic connections and remodeling of neuronal circuits receiving ischemic *** observation of the same neuronal structures of the mouse cortex over several months reveals the dynamic change of dendritic spines of somatosensory cortex in case of neuropathic pain induced by peripheral ligation of sciatic *** turnover in the S1 area corresponding to the injured paw markedly increased during an early developing phase of neuropathic pain and was restored in a late phase of neuropathic *** stable spines survived less following injury than controls,and new generated spine after the injury tend to preferentially survive,which displayed long-term potentiation-like enlargement over weeks. These results suggest that peripheral nerve injury induces rapid a

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Oxidative stress drives divergent evolution of the glutathione peroxidase(GPX)gene family in mammals

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integrative Zoology 2021年第5期16卷 696-711页

作者： Ran TIAN Yuepan GENG Ying YANG Inge SEIM Guang YANG Jiangsu Key Laboratory for Biodiversity and Biotechnology College of Life SciencesNanjing Normal UniversityNanjingJiangsuChina integrative Biology Laboratory College of Life SciencesNanjing Normal UniversityNanjingJiangsuChina School of Biology and Environmental Science Queensland University of TechnologyBrisbaneQueenslandAustralia

The molecular basis for adaptations to extreme environments can now be understood by interrogating the everincreasing number of sequenced *** such as cetaceans,bats,and highland species can protect themselves from oxidative stress,a disruption in the balance of reactive oxygen species,which results in oxidative injury and cell ***,we consider the evolution of the glutathione peroxidase(GPX)family of antioxidant enzymes by interrogating publicly available genome data from 70 mammalian species from all major *** identified 8 GPX subclasses ubiquitous to all mammalian *** GPX gene families resolved into the GPX4/7/8 and GPX1/2/3/5/6 groups and are characterized by several instances of gene duplication and loss,indicating a dynamic process of gene birth and death in *** of the eight GPX subfamilies(all but GPX7)were under positive selection,with the residues under selection located at or close to active sites or at the dimer *** also reveal evidence of a correlation between ecological niches(*** oxidative stress)and the divergent selection and gene copy number of GPX ***,a convergent expansion of GPX1 was observed in several independent lineages of mammals under oxidative stress and may be important for avoiding oxidative ***,this study suggests that the GPX gene family has shaped the adaption of mammals to stressful environments.

关键词： adaptive evolution gene family glutathione peroxidase mammals oxidative stress

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STING palmitoylation as a therapeutic target

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Cellular & molecular Immunology 2019年第3期16卷 236-241页

作者： Anne Louise Hansen Kojiro Mukai Francisco J.Schopfer Tomohiko Taguchi Christian K.Holm Department of Biomedicine Aarhus University8000 Aarhus CDenmark Laboratory of Organelle Pathophysiology Department of Integrative Life SciencesGraduate School of Life SciencesTohoku UniversitySendai 980-8578 MiyagiJapan Department of Pharmacology and Chemical Biology University of PittsburghPittsburghPA 15213USA

Gain-of-function mutations in the STING-encoding gene TMEM173 are central to the pathology of the autoinflammatory disorder STING-associated vasculopathy with onset in infancy(SAVI).Furthermore,excessive activity of the STING signaling pathway is associated with autoinflammatory diseases,including systemic lupus erythematosus and Aicardi–Goutières syndrome(AGS).Two independent studies recently identified pharmacological inhibitors of ***,both types of compounds are reactive nitrocontaining electrophiles that target STING palmitoylation,a posttranslational modification necessary for STING *** a consequence,the activation of downstream signaling molecules and the induction of type I interferons were *** compounds were effective at ameliorating inflammation in a mouse model of AGS and in blocking the production of type I interferons in primary fibroblasts from SAVI *** mini-review focuses on the roles of palmitoylation in STING activation and signaling and as a pharmaceutical target for drug development.

关键词： STING Palmitoylation Inflammation SAVI Interferonopathies

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Fast and accurate measurement of diffusion coefficient by Taylor’s dispersion analysis

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Chinese Science Bulletin 2007年第24期52卷 3325-3332页

作者： ZUO Min HAN YanLi QI Li CHEN Yi Beijing National Laboratory of molecular sciences and Laboratory of Analytical Chemistry for Life Science Institute of Chemistry Chinese Academy of Sciences Beijing 100080 China Graduate University of Chinese Academy of sciences Beijing 100049 China

This investigation aimed at improving the performance of Taylor’s dispersion analysis for the fast and accurate measurement of diffusion coefficient of a minute solute in various solvents. The investigation was carried out on a capillary electrophoresis instrument by monitoring the UV absorption peak of a solute pulse and calculating the diffusion coefficient by peak efficiency. With L-phenylalanine as a main testing solute, some key factors were afterward disclosed including especially the capillary size, carrier flow velocity, injection volume and capillary conditioning. Peak tailing, large volume of sample injection and slow migration were found to underestimate the diffusion coefficient while very fast migration and high sample concentration caused overestimation. At a moderate flow velocity of 0.1―1 cm/s with a capillary of 72.44 μm I.D.×60 cm (50 cm effective) maintained at 25℃, the diffusion coefficient of aqueous L-phenylalanine was determined, giving a value of 7.02×10-6 cm2/s with error <2% and relative standard deviation <0.2% (n=3). The method was shown to be applicable to the measurement of various samples such as aqueous phenylalanine, acetone, phenol, toluene and benzene, and nonaqueous benzene (in ethanol or 1-butanol).

关键词：扩散率非水样板离散分析毛细管电泳分析

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