This study investigates extreme rainfall episodes along the eastern foothills of the Taihang Mountains in North China from 30 July to 1 August 2023.It focuses on two types of extreme hourly rainfall rates(HRRs),i.e.,t...This study investigates extreme rainfall episodes along the eastern foothills of the Taihang Mountains in North China from 30 July to 1 August 2023.It focuses on two types of extreme hourly rainfall rates(HRRs),i.e.,the maximum regionalaverage HRR and site-observed HRR,which exhibited sequential development over southern,middle,and northern key regions.These rainfall extremes occurred in an environment where a high-pressure barrier over North China prevented the intrusion of cold air masses from the north while a northward-moving typhoon remnant vortex and its associated low-level jet(LLJ)transported warm and moist airflow from the south.Two distinct echo evolution modes and convection initiation mechanisms are identified for the two types of extreme HRRs.The maximum regional-average HRR occurred when the LLJ arrived to the east of the key regions,while the maximum site-observed HRR occurred when the warmer vortex center influenced the regions.Taking the northern key region as a representation,at the time of the maximum regional-average HRR,slantwise ascent of the airflow along a warm-frontal-like boundary released energy related to symmetrical instability,resulting in stratiform rainfall with weak convective cores.The transport of locally initiated convection over the eastern plain region,where the atmospheric stratification was more potentially unstable,also significantly contributed.When the maximum site-observed HRR occurred,the terrain lifting of warm and moist southeast airflow led to intense convection over the mountain foothills.Overall,the passage of the warm-core typhoon remnant vortex and interaction with Taihang Mountains determined the timing and location of extreme HRRs across the key regions.展开更多
The growth trajectory of hailstones within clouds has remained elusive due to the inability to trace them directly,impeding the comprehension of their underlying growth mechanisms.This study investigated hailstone ver...The growth trajectory of hailstones within clouds has remained elusive due to the inability to trace them directly,impeding the comprehension of their underlying growth mechanisms.This study investigated hailstone vertical growth trajectories by detecting the stable isotope signatures(2H and 18O compositions)of different shells in 27 hailstones from 9hailstorms,which allowed us to capture the ambient temperature during hailstone growth.The vertical growth trajectories were obtained by comparing the isotopic compositions of water condensate in clouds,derived from the Adiabatic Model,with those measured in hailstones.Although hailstone growth was primarily observed in the–10°C to–30°C temperature layer,the embryo formation height and subsequent growth trajectories significantly varied among hailstones.Embryos formed over a wide range of temperatures(–8.7°C to–33.4°C);four originated at temperatures above–15°C and 16originated at temperatures below–20°C,suggesting ice nuclei composed of bioproteins and mineral dust,respectively.Among the 27 measured hailstones,3 exhibited minimal vertical movement,16 exhibited a monotonic rise or fall,and the remaining 8 exhibited alternating up-down trajectories;only one experienced“recycling”during up-down drifting.Trajectory analysis revealed that similar-sized hailstones from a single storm tended to form at similar heights,whereas those larger than 25 mm in diameter exhibited at least one period of upward growth.Vertical trajectories derived from isotopic analysis were corroborated by radar hydrometeor observations.展开更多
Multiple quadrotors target encirclement is widely used in the intelligent field,as it can effectively monitor and control target behavior.However,it faces the danger of collision,as well as difficulties in localizatio...Multiple quadrotors target encirclement is widely used in the intelligent field,as it can effectively monitor and control target behavior.However,it faces the danger of collision,as well as difficulties in localization and tracking.Therefore,we propose a complete target encirclement method.Firstly,based on Hooke's law,a collision avoidance controller is designed to maintain a safe flying distance among quadrotors.Then,based on the consensus theory,a formation tracking controller is designed to meet the requirements of formation transformation and encirclement tasks,and a stability proof based on Lyapunov was provided.Besides,the target detection is designed based on YOLOv5s,and the target location model is constructed based on the principle of pinhole projection and triangle similarity.Finally,we conducted experiments on the built platform,with 3 reconnaissance quadrotors detecting and localization 3 target vehicles and 7 hunter quadrotors tracking them.The results show that the minimum average error for localization targets with reconnaissance quadrotors can reach 0.1354 m,while the minimum average error for tracking with hunter quadrotors is only 0.2960 m.No quadrotors collision occurred in the whole formation transformation and tracking experiment.In addition,compared with the advanced methods,the proposed method has better performance.展开更多
Dual-polarization(dual-pol)radar can measure additional parameters that provide more microphysical information of precipitation systems than those provided by conventional Doppler radar.The dual-pol parameters have be...Dual-polarization(dual-pol)radar can measure additional parameters that provide more microphysical information of precipitation systems than those provided by conventional Doppler radar.The dual-pol parameters have been successfully utilized to investigate precipitation microphysics and improve radar quantitative precipitation estimation(QPE).The recent progress in dual-pol radar research and applications in China is summarized in four aspects.Firstly,the characteristics of several representative dual-pol radars are reviewed.Various approaches have been developed for radar data quality control,including calibration,attenuation correction,calculation of specific differential phase shift,and identification and removal of non-meteorological echoes.Using dual-pol radar measurements,the microphysical characteristics derived from raindrop size distribution retrieval,hydrometeor classification,and QPE is better understood in China.The limited number of studies in China that have sought to use dual-pol radar data to validate the microphysical parameterization and initialization of numerical models and assimilate dual-pol data into numerical models are summarized.The challenges of applying dual-pol data in numerical models and emerging technologies that may make significant impacts on the field of radar meteorology are discussed.展开更多
A modified hydrometeor classification algorithm （HCA） is developed in this study for Chinese polarimetric radars. This algorithm is based on the U.S. operational HCA. Meanwhile, the methodology of statistics-based o...A modified hydrometeor classification algorithm （HCA） is developed in this study for Chinese polarimetric radars. This algorithm is based on the U.S. operational HCA. Meanwhile, the methodology of statistics-based optimization is proposed including calibration checking, datasets selection, membership functions modification, computation thresholds modification, and effect verification. Zhuhai radar, the first operational polarimetric radar in South China, applies these procedures. The systematic bias of calibration is corrected, the reliability of radar measurements deteriorates when the signal-to-noise ratio is low, and correlation coefficient within the melting layer is usually lower than that of the U.S. WSR-88D radar. Through modification based on statistical analysis of polarimetric variables, the localized HCA especially for Zhuhai is obtained, and it performs well over a one-month test through comparison with sounding and surface observations. The algorithm is then utilized for analysis of a squall line process on 11 May 2014 and is found to provide reasonable details with respect to horizontal and vertical structures, and the HCA results---especially in the mixed rain-hail region--can reflect the life cycle of the squall line. In addition, the kinematic and microphysical processes of cloud evolution and the differences between radar- detected hail and surface observations are also analyzed. The results of this study provide evidence for the improvement of this HCA developed specifically for China.展开更多
Programmed cell death(PCD)is essential for both plant development and stress responses including immunity.However,how plants control PCD is not well-understood.The shikimate pathway is one of the most important metabo...Programmed cell death(PCD)is essential for both plant development and stress responses including immunity.However,how plants control PCD is not well-understood.The shikimate pathway is one of the most important metabolic pathways in plants,but its relationship to PCD is unknown.Here,we show that the shikimate pathway promotes PCD in Arabidopsis.We identify a photoperiod-dependent lesion-mimic mutant named Lesion in short-day(lis),which forms spontaneous lesions in short-day conditions.Mapbased cloning and whole-genome resequencing reveal that LIS encodes MEE32,a bifunctional enzyme in the shikimate pathway.Metabolic analysis shows that the level of shikimate is dramatically increased in lis.Through genetic screenings,three suppressors of lis(slis)are identified and the causal genes are cloned.SLISes encode proteins upstream of MEE32 in the shikimate pathway.Furthermore,exogenous shikimate treatment causes PCD.Our study uncovers a link between the shikimate pathway and PCD,and suggests that the accumulation of shikimate is an alternative explanation for the action of glyphosate,the most successful herbicide.展开更多
Non-alcoholic fatty liver disease(NAFLD)is associated with mutations in lipopolysaccharide-binding protein(LBP),but the underlying epigenetic mechanisms remain understudied.Herein,LBP^(-/-)rats with NAFLD were establi...Non-alcoholic fatty liver disease(NAFLD)is associated with mutations in lipopolysaccharide-binding protein(LBP),but the underlying epigenetic mechanisms remain understudied.Herein,LBP^(-/-)rats with NAFLD were established and used to conduct integrative targetingactive enhancer histone H3 lysine 27 acetylation(H3K27ac)chromatin immunoprecipitation coupled with high-throughput and transcriptomic sequencing analysis to explore the potential epigenetic pathomechanisms of active enhancers of NAFLD exacerbation upon LBP deficiency.Notably,LBP^(-/-)reduced the inflammatory response but markedly aggravated high-fat diet(HFD)-induced NAFLD in rats,with pronounced alterations in the histone acetylome and regulatory transcriptome.In total,1128 differential enhancer-target genes significantly enriched in cholesterol and fatty acid metabolism were identified between wild-type(WT)and LBP^(-/-)NAFLD rats.Based on integrative analysis,CCAAT/enhancer-binding proteinβ(C/EBPβ)was identified as a pivotal transcription factor(TF)and contributor to dysregulated histone acetylome H3K27ac,and the lipid metabolism gene SCD was identified as a downstream effector exacerbating NAFLD.This study not only broadens our understanding of the essential role of LBP in the pathogenesis of NAFLD from an epigenetics perspective but also identifies key TF C/EBPβand functional gene SCD as potential regulators and therapeutic targets.展开更多
Objective:To explore HtrA1 gene expression aud its regulation in human gastric cancers.Methods:The HtrA1 mRNA levels were examined by QPCR analysis and coufirmed its expression with Northern blot analysis.The HtrA1 pr...Objective:To explore HtrA1 gene expression aud its regulation in human gastric cancers.Methods:The HtrA1 mRNA levels were examined by QPCR analysis and coufirmed its expression with Northern blot analysis.The HtrA1 protein levels in all six gastric epithelial cell lines were investigated by Western blot analysis.Gene copy number was accessed and then sequenced the coding region from each mRNA in all six cell lines.The HtrA1 promoter region DNA methylation status was detected by using bisulfite sequeucing analysis.Effect of decitabine and TSA on HTRA1 expression in gastric cancer cell line was determined by RTPCR.Results:HIC analysis indicated that HtrA1 was highly expressed in normal epithelium,but dramatically down-regulated in gastric carcinoma tissues and variably expressed in tumor-adjacent tissues.HtrA1 gene expression was dramatically decreased in gastric carcinoma cells compared to nontumorigenic counterparts.The HtrA1 gene loss in any of the 4 breast cancer cell lines was not detected.Total 14 CpGs in this region were all methylated in gastric cancer cells,whereas two normal cells.GES-1 and HFI-145,were having several unmethylated cytosines in this region.HtrA1 showed as^Mr 44,000,Expression of HtrA1 protein was not observed in any of the four gastric caucer cell lines.BGC-823.MKN-45.SGC-7901and MKN-28.HtrA1 expression was observed in the HF1-145and GES-1 cell lines.Conclusions:The epigenetic silencing for HtrA1gene expression could provide a possible strategy for re-activating Htrt1 gene expression in gastric cancer cells.thus facilitating further investigation of HtrA1's role in chemotherapy.展开更多
The aim of this study was to examine how somatic mutations of the GATA4 gene contributed to the genesis of ventricular septal defect （VSD）. The coding and intron-exon boundary regions of GATA4 were sequenced of DNA ...The aim of this study was to examine how somatic mutations of the GATA4 gene contributed to the genesis of ventricular septal defect （VSD）. The coding and intron-exon boundary regions of GATA4 were sequenced of DNA samples from peripheral blood cells and cardiac tissues of twenty surgically treated probands with VSD. Seven novel heterozygous variants were detected in cardiac tissues from VSD patients, but they were not detected in the peripheral blood cells of VSD patients or in 500 healthy control samples. We replicated 14 single nucleotide polymorphisms （SNPs） reported in NCBI. Bioinformatics analysis was performed to analyze the possible mechanism by which mutations were linked to VSD. Among those variants, c. 1004C〉A （p.S335X） occurred in the highly conserved domain of GATA4 and generated a termination codon, which led to the production of truncated GATA4. The seven novel heterozygous GATA4 mutations were only identified in cardiac tissues with VSD, suggesting that they are of somatic origin. A higher mutation rate in cardiac tissues than in peripheral blood cells implies that the genetic contribution to VSD may have been underestimated.展开更多
基金supported by the National Key R&D Program of China(2022YFC3003903)Natural Science Foundation of Beijing(Grant No.8222079)and of China(Grant No.42475014,U2442204)the Basic Research Fund of CAMS(2023Z001).
文摘This study investigates extreme rainfall episodes along the eastern foothills of the Taihang Mountains in North China from 30 July to 1 August 2023.It focuses on two types of extreme hourly rainfall rates(HRRs),i.e.,the maximum regionalaverage HRR and site-observed HRR,which exhibited sequential development over southern,middle,and northern key regions.These rainfall extremes occurred in an environment where a high-pressure barrier over North China prevented the intrusion of cold air masses from the north while a northward-moving typhoon remnant vortex and its associated low-level jet(LLJ)transported warm and moist airflow from the south.Two distinct echo evolution modes and convection initiation mechanisms are identified for the two types of extreme HRRs.The maximum regional-average HRR occurred when the LLJ arrived to the east of the key regions,while the maximum site-observed HRR occurred when the warmer vortex center influenced the regions.Taking the northern key region as a representation,at the time of the maximum regional-average HRR,slantwise ascent of the airflow along a warm-frontal-like boundary released energy related to symmetrical instability,resulting in stratiform rainfall with weak convective cores.The transport of locally initiated convection over the eastern plain region,where the atmospheric stratification was more potentially unstable,also significantly contributed.When the maximum site-observed HRR occurred,the terrain lifting of warm and moist southeast airflow led to intense convection over the mountain foothills.Overall,the passage of the warm-core typhoon remnant vortex and interaction with Taihang Mountains determined the timing and location of extreme HRRs across the key regions.
基金supported by the National Natural Science Foundation of China(Grant No.42030607)the Beijing Municipal Science and Technology Commission(Grant No.Z251100004525005)the National Science Foundation/National Center for Atmospheric Research,and NASA(Grant No.80NSSC22M0129)。
文摘The growth trajectory of hailstones within clouds has remained elusive due to the inability to trace them directly,impeding the comprehension of their underlying growth mechanisms.This study investigated hailstone vertical growth trajectories by detecting the stable isotope signatures(2H and 18O compositions)of different shells in 27 hailstones from 9hailstorms,which allowed us to capture the ambient temperature during hailstone growth.The vertical growth trajectories were obtained by comparing the isotopic compositions of water condensate in clouds,derived from the Adiabatic Model,with those measured in hailstones.Although hailstone growth was primarily observed in the–10°C to–30°C temperature layer,the embryo formation height and subsequent growth trajectories significantly varied among hailstones.Embryos formed over a wide range of temperatures(–8.7°C to–33.4°C);four originated at temperatures above–15°C and 16originated at temperatures below–20°C,suggesting ice nuclei composed of bioproteins and mineral dust,respectively.Among the 27 measured hailstones,3 exhibited minimal vertical movement,16 exhibited a monotonic rise or fall,and the remaining 8 exhibited alternating up-down trajectories;only one experienced“recycling”during up-down drifting.Trajectory analysis revealed that similar-sized hailstones from a single storm tended to form at similar heights,whereas those larger than 25 mm in diameter exhibited at least one period of upward growth.Vertical trajectories derived from isotopic analysis were corroborated by radar hydrometeor observations.
基金the National Natural Science Foundation of China(Grant Nos.62303348 and 62173242)the Aeronautical Science Foundation of China(Grant No.2024M071048002)the National Science Fund for Distinguished Young Scholars(Grant No.62225308)to provide fund for conducting experiments.
文摘Multiple quadrotors target encirclement is widely used in the intelligent field,as it can effectively monitor and control target behavior.However,it faces the danger of collision,as well as difficulties in localization and tracking.Therefore,we propose a complete target encirclement method.Firstly,based on Hooke's law,a collision avoidance controller is designed to maintain a safe flying distance among quadrotors.Then,based on the consensus theory,a formation tracking controller is designed to meet the requirements of formation transformation and encirclement tasks,and a stability proof based on Lyapunov was provided.Besides,the target detection is designed based on YOLOv5s,and the target location model is constructed based on the principle of pinhole projection and triangle similarity.Finally,we conducted experiments on the built platform,with 3 reconnaissance quadrotors detecting and localization 3 target vehicles and 7 hunter quadrotors tracking them.The results show that the minimum average error for localization targets with reconnaissance quadrotors can reach 0.1354 m,while the minimum average error for tracking with hunter quadrotors is only 0.2960 m.No quadrotors collision occurred in the whole formation transformation and tracking experiment.In addition,compared with the advanced methods,the proposed method has better performance.
基金primarily supported by the National Key Research and Development Program of China(Grant Nos.2017YFC1501703 and 2018YFC1506404)the National Natural Science Foundation of China(Grant Nos.41875053,41475015 and 41322032)+2 种基金the National Fundamental Research 973 Program of China(Grant Nos.2013CB430101 and2015CB452800)the Open Research Program of the State Key Laboratory of Severe Weatherthe Key Research Development Program of Jiangsu Science and Technology Department(Social Development Program,No.BE2016732)
文摘Dual-polarization(dual-pol)radar can measure additional parameters that provide more microphysical information of precipitation systems than those provided by conventional Doppler radar.The dual-pol parameters have been successfully utilized to investigate precipitation microphysics and improve radar quantitative precipitation estimation(QPE).The recent progress in dual-pol radar research and applications in China is summarized in four aspects.Firstly,the characteristics of several representative dual-pol radars are reviewed.Various approaches have been developed for radar data quality control,including calibration,attenuation correction,calculation of specific differential phase shift,and identification and removal of non-meteorological echoes.Using dual-pol radar measurements,the microphysical characteristics derived from raindrop size distribution retrieval,hydrometeor classification,and QPE is better understood in China.The limited number of studies in China that have sought to use dual-pol radar data to validate the microphysical parameterization and initialization of numerical models and assimilate dual-pol data into numerical models are summarized.The challenges of applying dual-pol data in numerical models and emerging technologies that may make significant impacts on the field of radar meteorology are discussed.
基金jointly funded by the National Natural Science Foundation of China (Grant Nos. 41675023, 91337103, 91437101 and 41675029)the Scientific Research Projects of CAMS (Grant Nos. 2016Z005 and 2016LASW-B12)the Postgraduate Research & Practice Innovation Program of Jiangsu Province (Grant Nos. KYCX17 0880)
文摘A modified hydrometeor classification algorithm （HCA） is developed in this study for Chinese polarimetric radars. This algorithm is based on the U.S. operational HCA. Meanwhile, the methodology of statistics-based optimization is proposed including calibration checking, datasets selection, membership functions modification, computation thresholds modification, and effect verification. Zhuhai radar, the first operational polarimetric radar in South China, applies these procedures. The systematic bias of calibration is corrected, the reliability of radar measurements deteriorates when the signal-to-noise ratio is low, and correlation coefficient within the melting layer is usually lower than that of the U.S. WSR-88D radar. Through modification based on statistical analysis of polarimetric variables, the localized HCA especially for Zhuhai is obtained, and it performs well over a one-month test through comparison with sounding and surface observations. The algorithm is then utilized for analysis of a squall line process on 11 May 2014 and is found to provide reasonable details with respect to horizontal and vertical structures, and the HCA results---especially in the mixed rain-hail region--can reflect the life cycle of the squall line. In addition, the kinematic and microphysical processes of cloud evolution and the differences between radar- detected hail and surface observations are also analyzed. The results of this study provide evidence for the improvement of this HCA developed specifically for China.
基金supported by grants from the National Natural Science Foundation of China(31771355,31970311)Thousand Talents Plan of China-Young ProfessionalsHuazhong Agricultural University Scientific&Technological Self-innovation Foundation(2014RC004)。
文摘Programmed cell death(PCD)is essential for both plant development and stress responses including immunity.However,how plants control PCD is not well-understood.The shikimate pathway is one of the most important metabolic pathways in plants,but its relationship to PCD is unknown.Here,we show that the shikimate pathway promotes PCD in Arabidopsis.We identify a photoperiod-dependent lesion-mimic mutant named Lesion in short-day(lis),which forms spontaneous lesions in short-day conditions.Mapbased cloning and whole-genome resequencing reveal that LIS encodes MEE32,a bifunctional enzyme in the shikimate pathway.Metabolic analysis shows that the level of shikimate is dramatically increased in lis.Through genetic screenings,three suppressors of lis(slis)are identified and the causal genes are cloned.SLISes encode proteins upstream of MEE32 in the shikimate pathway.Furthermore,exogenous shikimate treatment causes PCD.Our study uncovers a link between the shikimate pathway and PCD,and suggests that the accumulation of shikimate is an alternative explanation for the action of glyphosate,the most successful herbicide.
基金supported by the National Natural Science Foundation of China(81971875,82300661)Natural Science Foundation of Anhui province(2308085QH246)+3 种基金Natural Science Foundation of the Anhui Higher Education Institutions(KJ2021A0205)Basic and Clinical Cooperative Research Program of Anhui Medical University(2019xkjT002,2019xkjT022,2022xkjT013)Talent Training Program,School of Basic Medical Sciences,Anhui Medical University(2022YPJH102)National College Students Innovation and Entrepreneurship Training Program of China(202210366024)。
文摘Non-alcoholic fatty liver disease(NAFLD)is associated with mutations in lipopolysaccharide-binding protein(LBP),but the underlying epigenetic mechanisms remain understudied.Herein,LBP^(-/-)rats with NAFLD were established and used to conduct integrative targetingactive enhancer histone H3 lysine 27 acetylation(H3K27ac)chromatin immunoprecipitation coupled with high-throughput and transcriptomic sequencing analysis to explore the potential epigenetic pathomechanisms of active enhancers of NAFLD exacerbation upon LBP deficiency.Notably,LBP^(-/-)reduced the inflammatory response but markedly aggravated high-fat diet(HFD)-induced NAFLD in rats,with pronounced alterations in the histone acetylome and regulatory transcriptome.In total,1128 differential enhancer-target genes significantly enriched in cholesterol and fatty acid metabolism were identified between wild-type(WT)and LBP^(-/-)NAFLD rats.Based on integrative analysis,CCAAT/enhancer-binding proteinβ(C/EBPβ)was identified as a pivotal transcription factor(TF)and contributor to dysregulated histone acetylome H3K27ac,and the lipid metabolism gene SCD was identified as a downstream effector exacerbating NAFLD.This study not only broadens our understanding of the essential role of LBP in the pathogenesis of NAFLD from an epigenetics perspective but also identifies key TF C/EBPβand functional gene SCD as potential regulators and therapeutic targets.
基金supported by Natural Science and Technology Fund of Hubei Povince(012726334)
文摘Objective:To explore HtrA1 gene expression aud its regulation in human gastric cancers.Methods:The HtrA1 mRNA levels were examined by QPCR analysis and coufirmed its expression with Northern blot analysis.The HtrA1 protein levels in all six gastric epithelial cell lines were investigated by Western blot analysis.Gene copy number was accessed and then sequenced the coding region from each mRNA in all six cell lines.The HtrA1 promoter region DNA methylation status was detected by using bisulfite sequeucing analysis.Effect of decitabine and TSA on HTRA1 expression in gastric cancer cell line was determined by RTPCR.Results:HIC analysis indicated that HtrA1 was highly expressed in normal epithelium,but dramatically down-regulated in gastric carcinoma tissues and variably expressed in tumor-adjacent tissues.HtrA1 gene expression was dramatically decreased in gastric carcinoma cells compared to nontumorigenic counterparts.The HtrA1 gene loss in any of the 4 breast cancer cell lines was not detected.Total 14 CpGs in this region were all methylated in gastric cancer cells,whereas two normal cells.GES-1 and HFI-145,were having several unmethylated cytosines in this region.HtrA1 showed as^Mr 44,000,Expression of HtrA1 protein was not observed in any of the four gastric caucer cell lines.BGC-823.MKN-45.SGC-7901and MKN-28.HtrA1 expression was observed in the HF1-145and GES-1 cell lines.Conclusions:The epigenetic silencing for HtrA1gene expression could provide a possible strategy for re-activating Htrt1 gene expression in gastric cancer cells.thus facilitating further investigation of HtrA1's role in chemotherapy.
基金supported by National Natural Science Fund of China (No.30871079)National Science Foundation of Jiangsu province (No. BK2007232)
文摘The aim of this study was to examine how somatic mutations of the GATA4 gene contributed to the genesis of ventricular septal defect （VSD）. The coding and intron-exon boundary regions of GATA4 were sequenced of DNA samples from peripheral blood cells and cardiac tissues of twenty surgically treated probands with VSD. Seven novel heterozygous variants were detected in cardiac tissues from VSD patients, but they were not detected in the peripheral blood cells of VSD patients or in 500 healthy control samples. We replicated 14 single nucleotide polymorphisms （SNPs） reported in NCBI. Bioinformatics analysis was performed to analyze the possible mechanism by which mutations were linked to VSD. Among those variants, c. 1004C〉A （p.S335X） occurred in the highly conserved domain of GATA4 and generated a termination codon, which led to the production of truncated GATA4. The seven novel heterozygous GATA4 mutations were only identified in cardiac tissues with VSD, suggesting that they are of somatic origin. A higher mutation rate in cardiac tissues than in peripheral blood cells implies that the genetic contribution to VSD may have been underestimated.
