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Association of copy number variation in X chromosome-linked PNPLA4 with heterotaxy and congenital heart disease

中华医学杂志(英文版) 2024年第15期137卷 1823-1834页

作者： Gao Han Huang Xianghui Chen Weicheng Feng Zhiyu Zhao Zhengshan Li Ping Tan Chaozhong Wang Jinxin Zhuang Quannan Gao Yuan Min Shaojie Yao Qinyu Qian Maoxiang Ma Xiaojing Wu Feizhen Yan Weili Sheng Wei Huang Guoying Children’s Hospital of Fudan University Shanghai China shanghai Key Laboratory of Birth Defects Shanghai China Fujian Key Laboratory of Neonatal Diseases Xiamen Children’s Hospital Xiamen Fujian China Research Unit of Early Intervention of Genetically Related Childhood Cardiovascular Diseases Chinese Academy of Medical Sciences Shanghai China

Background: Heterotaxy (HTX) is a thoracoabdominal organ anomaly syndrome and commonly accompanied by congenital heart disease (CHD). The aim of this study was to analyze rare copy number variations (CNVs) in a HTX/CHD cohort and to examine the potential mechanisms contributing to HTX/***: Chromosome microarray analysis was used to identify rare CNVs in a cohort of 120 unrelated HTX/CHD patients, and available samples from parents were used to confirm the inheritance pattern. Potential candidate genes in CNVs region were prioritized via the DECIPHER database, andPNPLA4 was identified as the leading candidate gene. To validate, we generatedPNPLA4-overexpressing human induced pluripotent stem cell lines as well aspnpla4-overexpressing zebrafish model, followed by a series of transcriptomic, biochemical and cellular ***: Seventeen rare CNVs were identified in 15 of the 120 HTX/CHD patients (12.5%). Xp22.31 duplication was one of the inherited CNVs identified in this HTX/CHD cohort, andPNPLA4 in the Xp22.31 was a candidate gene associated with HTX/***4 is expressed in the lateral plate mesoderm, which is known to be critical for left/right embryonic patterning as well as cardiomyocyte differentiation, and in the neural crest cell lineage. Through a series ofin vivo andin vitro analyses at the molecular and cellular levels, we revealed that the biological function ofPNPLA4 is importantly involved in the primary cilia formation and function via its regulation of energy metabolism and mitochondria-mediated ATP ***: Our findings demonstrated a significant association between CNVs and HTX/CHD. Our data strongly suggested that an increased genetic dose ofPNPLA4 due to Xp22.31 duplication is a disease-causing risk factor for HTX/CHD.

关键词： PNPLA4 Copy number variations X-chromosome Heterotaxy Congenital heart diseases

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Probing the Gamma-Ray Emission Region of Five TeV Flat Spectrum Radio Quasars

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Research in Astronomy and Astrophysics 2024年第6期24卷 156-169页

作者： Hu-Bing Xiao Hai-Tao Cao Rui Xue Jin-Ting Cai Ge-Ge Wang Marina Manganaro Shao-Hua Zhang Zhi-Hao Ouyang Li-Ping Fu Jun-Hui Fan shanghai Key Lab for Astrophysics Shanghai Normal UniversityShanghai 200234China School of Information Engineering Guangzhou Panyu PolytechnicGuangzhou 511483China Department of Physics Zhejiang Normal UniversityJinhua 321004China College of Mathematics and Physics Guangxi Minzu UniversityNanning 530006China Key Laboratory of Cosmology and Astrophysics(Liaoning) College of SciencesNortheastern UniversityShenyang 110819China Department of Physics University of RijekaRijeka 51000Croatia Center for Astrophysics Guangzhou UniversityGuangzhou 510006China Key Laboratory for Astronomical Observation and technology of Guangzhou Guangzhou 510006China Astronomy science and technology Research Laboratory of Department of Education of Guangdong Province Guangzhou 510006China

The location ofγ-ray emission of blazars remains a contested topic,inspiring the development of numerous investigative techniques to address this *** this work,we analyzed Fermiγ-ray light curves in the GeV and MeV bands,employing the discrete cross-correlation function method to discern time lags between the two *** 4C+21.35,Ton 599,B21420+32,and PKS 1510-089,we identified a time lag spanning several days,while for PKS 1441+25,the time lag was not statistically *** results imply that the soft photons necessary for inverse Compton scattering predominantly originate from the dusty torus in the first four sources,whereas for PKS1441+25,they seem to be sourced mainly from the broad-line *** analysis of the opacity(τγγ)and the GeV spectra study supports the conclusion that the location of the dissipation region must be beyond the BLR to avoid significant ***,for PKS 1441+25,the emission region is also posited to lie outside yet proximate to the *** parameters of describing the emission region were obtained by fitting broadband spectral energy distribution with contemporaneous observation *** findings suggest that for the five TeV FSRQs,during Te V flaring events,the jet appears to maintain an equilibrium between the energy density of the magnetic field and that of the particles for all investigated sources,with the exceptions of 4C+21.35 and PKS1441+*** terms of the overall jet power,particle energy is the dominant contributor,and the observed blazar radiation cannot be solely attributed to the magnetic field,except in the case of 4C+***,magnetic reconnection is unlikely to be the primary mechanism behind particle acceleration in these systems.

关键词： galaxies:active gamma-rays:galaxies galaxies:jets

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Synthesis of betanin by expression of the core betalain biosynthetic pathway in carrot

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Horticultural Plant Journal 2024年第3期10卷 732-742页

作者： Bo Wang Yahui Wang Yuanjie Deng Quanhong Yao Aisheng Xiong State Key Laboratory of Crop Genetics and Germplasm Enhancement College of HorticultureNanjing Agricultural UniversityNanjingJiangsu 210095China shanghai Key Laboratory of Agricultural Genetics and Breeding Biotechnology Research Institute of Shanghai Academy of Agricultural ScienceShanghai 201106China

Betalain has received increased attention because of its high nutritional value and crucial physiological *** on the elucidation of its core biosynthetic pathway,betalain can be produced in additional plants by metabolic *** of betalain in carrot(Daucus carota L.)can improve its nutritional quality and economic value by extracting betalain from the fleshy root,non-edible part,and processing residue of *** this study,two different constructs,namely,pYB:mCD(AomelOS,BvCYP76AD1S,and BvDODA1S)and p YB:CDD(BvCYP76AD1S,BvDODA1S,and MjcDOPA5GTS),were introduced into carrot for betanin synthesis by Agrobacterium-mediated *** can be synthetized in both transgenic calli,and p YB:m CD-transgenic callus can be used to produce betacyanin by suspension ***,pYB:mCD-transgenic seedlings can synthetize betanin only by tyrosine *** p YB:CDD-transgenic lines can synthetize betanin in whole *** betanin content in fleshy root of pYB:CDD-transgenic carrot was(63.4±9)μg·g^(-1)fresh weight according to quantitative *** betanin-producing carrot plant materials can be used to synthesize betanin for industrial application or consumption as dietary sources.

关键词： Daucus carota L. Betanin Biosynthesis Metabolic engineering Biofortification

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Biallelic variants in RBM42 cause a multisystem disorder with neurological,facial,cardiac,and musculoskeletal involvement

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Protein & Cell 2024年第1期15卷 52-68页

作者： Yiyao Chen Bingxin Yang Xiaoyu Merlin Zhang Songchang Chen Minhui Wang Liya Hu Nina Pan Shuyuan Li Weihui Shi Zhenhua Yang Li Wang Yajing Tan Jian Wang Yanlin Wang Qinghe Xing Zhonghua Ma Jinsong Li He-Feng Huang Jinglan Zhang Chenming Xu Institutes of Biomedical sciences Fudan UniversityShanghai 200032China bstetrics and Gynecology Hospital Institute of Reproduction and DevelopmentFudan UniversityShanghai 200011China Intermational Peace Matermity and Child Health Hospital School of MedicineShanghai Jiao Tong UniversityShanghai 200030China shanghai Key Laboratory of Embryo Original Diseases Shanghai 200030China State Key Laboratory of Cell Biology Shanghai Key Laboratory of Molecular AndrologyShanghai Institute of Biochemistry and Cell BiologyCAS Center for Excellence in Molecular Cell ScienceUniversity of Chinese Academy of SciencesChinese Academy of SciencesShanghai 200031China State Key Laboratory of Rice Biology the Key Laboratory of Molecular Biology of Crop Pathogens and InsectsInstitute of BiotechnologyZhejiang UniversityHangzhou 310058China Verna and Marrs McLean Department of Biochemistry and Molecular Biology Baylor College of MedicineHoustonTX 77030USA Children's hospital of Fudan University Shanghai 201102China School of Life science and technology Shanghai Tech UniversityShanghai 201210China School of Life science Hangzhou Institute for Advanced StudyUniversity of Chinese Academy of SciencesHangzhou 310024ZhejiangChina Research Units of Embryo Original Diseases Chinese Academy of Medical Sciences(No.2019RU056)Shanghai 200011China

Here,we report a previously unrecognized syndromic neurodevelopmental disorder associated with biallelic loss-of-function variants in the RBM42 *** patient is a 2-year-old female with severe central nervous system(CNs)abnormalities,hypotonia,hearing loss,congenital heart defects,and dysmorphic facial *** whole-exome sequencing(WEs)reveals that the patient has two compound heterozygous variants,c.304C>T(p.R102*)and c.1312G>A(p.A438T),in the RBM42 gene which encodes an integral component of splicing complex in the RNA-binding motif protein *** p.A438T variant is in the RRM domain which impairs RBM42 pro-tein stability in ***,p.A438T disrupts the interaction of RBM42 with hnRNP K,which is the causa-tive gene for Au-Kline syndrome with overlapping disease characteristics seen in the index *** human R102*or A438T mutant protein failed to fully rescue the growth defects of RBM42 ortholog knockout△FgRbp1 in Fusarium while it was rescued by the wild-type(WT)human RBM42.A mouse model carying Rbm42 compound heterozygous variants,c.280C>T(p.Q94*)and c.1306_1308delinsACA(p.A436T),demonstrated gross fetal develop-mental defects and most of the double mutant animals died by ***-seq data confirmed that Rbm42 was involved in neurological and myocardial functions with an essential role in alternative splicing(As).Overall,we present clinical,genetic,and functional data to demonstrate that defects in RBM42 constitute the underlying etiology of a new neurodevelopmental disease which links the dysregulation of global AS to abnormal embryonic development.

关键词： RBM42 gene RNA-binding protein neurodevelopmental disorder Au-Kline syndrome alternative splicing

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Mutations in the SARS-CoV-2 spike receptor binding domain and their delicate balance between ACE2 affinity and antibody evasion

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Protein & Cell 2024年第6期15卷 403-418页

作者： Song Xue Yuru Han Fan Wu Qiao Wang Key Laboratory of Medical Molecular Virology (MOE/NHC/CAMS) Shanghai Institute of Infectious Disease and BiosecurityShanghai Frontiers Science Center of Pathogenic Microorganisms and InfectionSchool of Basic Medical SciencesShanghai Medical CollegeFudan UniversityShanghai 200032China

Intensive selection pressure constrains the evolutionary trajectory of SARS-CoV-2 genomes and results in various novel variants with distinct mutation *** mutations,particularly those within the receptor binding domain(RBD)of SARS-CoV-2 spike(S)protein,lead to the functional alteration in both receptor engagement and monoclonal antibody(mAb)***,we review the data of the RBD point mutations possessed by major SARS-CoV-2 variants and discuss their individual effects on ACE2 affinity and immune *** single amino acid substitutions within RBD epitopes crucial for the antibody evasion capacity may conversely weaken ACE2 binding ***,this weakened effect could be largely compensated by specific epistatic mutations,such as N501Y,thus maintaining the overall ACE2 affinity for the spike protein of all major *** predominant direction of SARS-CoV-2 evolution lies neither in promoting ACE2 affinity nor evading mAb neutralization but in maintaining a delicate balance between these two ***,this review interprets how RBD mutations efficiently resist antibody neutralization and meanwhile how the affinity between ACE2 and spike protein is maintained,emphasizing the significance of comprehensive assessment of spike mutations.

关键词： ACE2 affinity maintained

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Chiral helically grooved gold nanoarrows for concurrently enhancing oxygen and hydrogen evolution from electrochemical water splitting

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science China Chemistry 2024年

作者： Lufei Huang Tao Wang Ying Li Ping Wang Rui Tian Baowen Zhou Lin Yao China-UK Low Carbon College Shanghai Jiao Tong University Electron Microscopy Laboratory School of Physics Peking University State Key Laboratory for Mesoscopic Physics and Frontiers science Center for Nano-optoelectronics School of Physics Peking University Key Laboratory for Power Machinery and Engineering of Ministry of Education Research Center for Renewable Synthetic FuelSchool of Mechanical Engineering Shanghai Jiao Tong University

Electrocatalytic water splitting shows a tremendous promise for storing green and intermittent electricity into storable fuels,paving a sustainable way toward carbon neutrality. The exploration of a bifunctional electrocatalyst for simultaneously enhancing oxygen evolution reaction and hydrogen evolution reaction is at the core yet remains a grand challenge, especially operated in the same electrolyte. In this work, mesoscale gold nanoarrows with special chiral morphology are synthesized for electrocatalytic water splitting. In the same electrolyte of 1 M KOH aqueous solution, the as-designed chiral R-/L-helically grooved gold nanoarrows（R-/L-heliGNAs） demonstrated significantly enhanced performance in both hydrogen evolution reaction and oxygen evolution reaction with overpotentials of 186 and 355 mV at 10 mA cm-2, respectively, compared to the achiral counterpart. For oxygen evolution reaction, the performance is even comparable to commercial notable metal catalysts,i.e., RuO2, of which the overpotential is 310 mV under the same measured conditions. The spin-polarized conductive atomic force microscope（c-AFM）, finite-difference time-domain simulation, in combination with electrochemical investigations, show that the chirality of R-/L-heliGNAs makes a substantial contribution toward the remarkable performance by enhanced electric field distribution for hydrogen evolution reaction and by tuning the spin states of the electrons for oxygen evolution *** study presents an encouraging strategy for simultaneously promoting hydrogen evolution reaction and oxygen evolution reaction that operated in the same electrolyte by imparting chirality toward a mesoscale inorganic electrocatalyst, showing a grand promise for opening up a new way for electrocatalytic water splitting toward green hydrogen.

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基于物理信息引导深度学习的建筑响应实时预测方法

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Engineering 2024年第4期35卷 140-157页

作者： Ying Zhou Shiqiao Meng Yujie Lou Qingzhao Kong State Key Laboratory of Disaster Reduction in Civil Engineering Tongji UniversityShanghai 200092China

High-precision and efficient structural response prediction is essential for intelligent disaster prevention and mitigation in building structures,including post-earthquake damage assessment,structural health monitoring,and seismic resilience assessment of *** improve the accuracy and efficiency of structural response prediction,this study proposes a novel physics-informed deep-learning-based realtime structural response prediction method that can predict a large number of nodes in a structure through a data-driven training method and an autoregressive training *** proposed method includes a Phy-Seisformer model that incorporates the physical information of the structure into the model,thereby enabling higher-precision *** were conducted on a four-story masonry structure,an eleven-story reinforced concrete irregular structure,and a twenty-one-story reinforced concrete frame structure to verify the accuracy and efficiency of the proposed *** addition,the effectiveness of the structure in the Phy-Seisformer model was verified using an ablation ***,by conducting a comparative experiment,the impact of the range of seismic wave amplitudes on the prediction accuracy was *** experimental results show that the method proposed in this paper can achieve very high accuracy and at least 5000 times faster calculation speed than finite element calculations for different types of building structures.

关键词： Structural seismic response prediction Physics information informed Real-time prediction Earthquake engineering Data-driven machine learning

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A novel preimplantation genetic testing strategy for a subtelomeric genetic disorder:A case study

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Genes & Diseases 2024年第4期11卷 13-15页

作者： Songchang Chen Li Wanng Luting Chen Weihui Shi Junyu Zhang Yuting Hu Yinyu Wang Li Jin Jianzhong Sheng Feng Zhang Yanting Wu Hefeng Huang Chenming Xu Obstetrics and Gynecology Hospital Institute of Reproduction and DevelopmentFudan UniversityShanghai 200090China The International Peace Maternity and Child Health Hospital School of MedicineShanghai Jiao Tong UniversityShanghai 200030China Research Units of Embryo Original Diseases Chinese Academy of Medical SciencesShanghai 200030China Key Laboratory of Reproductive Genetics(Ministry of Education) Department of Reproductive EndocrinologyWomen's HospitalZhejiang University School of MedicineHangzhouZhejiang 310058China shanghai Key Laboratory of Embryo Original Diseases Shanghai 200030China shanghai First Maternity and Infant Hospital Tongji University School of MedicineShanghai 200030China

Preimplantation genetic testing(PGT)is a precise and effective technique for detecting inherited pathogenic mutations to prevent birth ***,there are few reports on PGT for pseudo-autosomal genetic diseases.

关键词： implantation testing precise

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Long-Range Electronic Effect-Promoted Ring-Opening Polymerization of Thioctic Acid to Produce Biomimetic Ionic Elastomers for Bioelectronics

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CCS Chemistry 2024年第3期6卷 761-773页

作者： Hongfei Huang Huijing Wang Lijie Sun Ruohan Zhang Luzhi Zhang ZekaiWu Yaxuan Zheng Yang Wang Wei Fu Youwei Zhang Rasoul Esmaeely Neisiany Zhengwei You State Key Laboratory for Modification of Chemical Fibers and Polymer Materials College of Materials Science and EngineeringInstitute of Functional MaterialsDonghua UniversityResearch Base of Textile Materials for Flexible Electronics and Biomedical Applications(China Textile Engineering Society)Shanghai Engineering Research Center of Nano-Biomaterials and Regenerative MedicineShanghai 201620 Institute of Pediatric Translational Medicine Shanghai Children’s Medical CenterSchool of MedicineShanghai Jiao Tong UniversityShanghai 200127 Department of Materials and Polymer Engineering Faculty of EngineeringHakim Sabzevari UniversitySabzevar ***

Poly(disulfide)s have been widely used in flexible wearable electronics,smart materials,and drug *** synthesis of poly(disulfide)s usually utilizes external stimuli or toxic initiators to promote the ***,we indicated that the long-range electronic effect can significantly alter the reactivity of the disulfide ***,we established deprotonation-promoted ring-opening polymerization of thioctic acid(TA)as a highly effective and simple method to synthesize poly(disulfide)s due to the long-range electronic effect and nucleophilic *** external stimuli and initiators,simple mixing of TA and deprotonation reagent,choline bicarbonate,in different ratios at room temperature rapidly produced a series of high molecular weight(up to 772 kDa)ionic liquid crystal poly(disulfide)s elastomers with room temperature self-healing ability,adjustable conductivity(2.39×10^(−2)∼0.28×10^(−2)S m^(−1)),degradability,biocompatibility,antibacterial property,and tissue-like softness(Young’s moduli ranging from 18.2±6.0 to 111.1±36.7 kPa).The experiments and density functional theory calculations also revealed the principle of long-range electronic effect to establish a new synthetic strategy of poly(disulfide)s with superior properties favorable for bioelectronics.

关键词： self-healing elastomers thioctic acid ionic liquid bioelectronics

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Mixing states and secondary formation processes of organic nitrogen-containing single particles in Guangzhou,China

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Journal of Environmental sciences 2024年第4期138卷 62-73页

作者： Lijun Yun Chunlei Cheng Suxia Yang Zaihua Wang Mei Li Qi En Zhong LiyuanMao Sulin Liu Xiaoya Cheng Duanying Chen Fan Yang Zhen Zhou Institute of Mass Spectrometry and Atmospheric Environment Guangdong Provincial Engineering Research Center for on-line source apportionment system of air pollutionJinan UniversityGuangzhou 510632China Guangdong-Hongkong-Macao Joint Laboratory of Collaborative Innovation for Environmental Quality Guangzhou 510632China State Key Laboratory of Loess and Quaternary Geology Institute of Earth EnvironmentChinese Academy ScienceXi’an 710061China Institute for Environment and Climate Research Jinan UniversityGuangzhou 510632China Guangdong Academy of sciences Institute of Resources Utilization and Rare Earth DevelopmentGuangzhou 510650China Environmental Monitoring Station of Pudong New District Shanghai 201200China

Organic nitrogen(ON)compounds play a significant role in the light absorption of brown carbon and the formation of organic aerosols,however,the mixing state,secondary formation processes,and influencing factors of ON compounds are still *** paper reports on the mixing state of ON-containing particles based on measurements obtained using a highperformance single particle aerosol mass spectrometer in January 2020 in *** ON-containing particles accounted for 21% of the total detected single particles,and the particle count and number fraction of the ON-containing particles were two times higher at night than during the *** prominent increase in the content of ON-containing particles with the enhancement of NO_xmainly occurred at night,and accompanied by high relative humidity and nitrate,which were associated with heterogeneous reactions between organics and gaseous NO_(x)and/or NO_(3)*** synchronous decreases in ON-containing particles and the mass absorption coefficient of water-soluble extracts at 365 nm in the afternoon may be associated with photo-bleaching of the ON species in the *** addition,the positive matrix factorization analysis found five factors dominated the formation processes of ON particles,and the nitrate factor(33%)mainly contributed to the production of ON particles at *** results of this study provide unique insights into the mixing states and secondary formation processes of the ON-containing particles.

关键词： Organic nitrogen compounds Single particles Mixing state Secondary formation Nighttime chemistry

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