The etiopathogenesis of gastrointestinal diseases is varied in nature.Various etiogenic factors described are infective,inflammatory,viral,bacterial,parasitic,dietary and lifestyle change.Rare causative agents are imm...The etiopathogenesis of gastrointestinal diseases is varied in nature.Various etiogenic factors described are infective,inflammatory,viral,bacterial,parasitic,dietary and lifestyle change.Rare causative agents are immunological,and others associated as idiopathic,are undiagnosed by all possible means.Some of the rare diseases are congenital in nature,passing from the parent to the child.Many of the undiagnosed diseases are now being diagnosed as genetic and the genes have been implicated as a causative agent.There is a search for newer treatments for such diseases,which is called genomic medicine.Genomic medicine is an emerging medical discipline that involves the use of genomic information about an individual.This is used both for diagnostic as well as therapeutic decisions to improve the current health domain and pave the way for policymakers for its clinical use.In the developing era of precision medicine,genomics,epigenomics,environmental exposure,and other data would be used to more accurately guide individual diagnosis and treatment.Genomic medicine is already making an impact in the fields of oncology,pharmacology,rare,infectious and many undiagnosed diseases.It is beginning to fuel new approaches in certain medical specialties.Oncology is at the leading edge of incorporating genomics,as diagnostics for genetic and genomic markers are increasingly included in cancer screening,and to guide tailored treatment strategies.Genetics and genetic medicine have been reported to play a role in gastroenterology in several ways,including genetic testing(hereditary pancreatitis and hereditary gastrointestinal cancer syndromes).Genetic testing can also help subtype diseases,such as classifying pancreatitis as idiopathic or hereditary.Gene therapy is a promising approach for treating gastrointestinal diseases that are not effectively treated by conventional pharmaceuticals and surgeries.Gene therapy strategies include gene addition,gene editing,messenger RNA therapy,and gene silencing.Understanding genetic determinants,advances in genetics,have led to a better understanding of the genetic factors that contribute to human disease.Family-member risk stratification and genetic diagnosis can help identify family members who are at risk,which can lead to preventive treatments,lifestyle recommendations,and routine follow ups.Selecting target genes helps identify the gene targets associated with each gastrointestinal disease.Common gastrointestinal diseases associated with genetic abnormalities include-inflammatory bowel disease,gastroesophageal reflux disease,non-alcoholic fatty liver disease,and irritable bowel syndrome.With advancing tools and technology,research in the search of newer and individualized treatment,genes and genetic medicines are expected to play a significant role in human health and gastroenterology.展开更多
Hereditary cardiomyopathies and arrhythmias are major contributors to cardiovascular morbidity and mortality.The advent of next-generation sequencing(NGS)has made genetic testing more accessible,which is crucial for p...Hereditary cardiomyopathies and arrhythmias are major contributors to cardiovascular morbidity and mortality.The advent of next-generation sequencing(NGS)has made genetic testing more accessible,which is crucial for precise diagnosis and targeted therapeutic strategies.The aim of this study is to explore the landscape of genetic variants,the relationship between specific variants and clinical phenotypes,and the impact on clinical decision-making in China.A total of 1536 probands(median age,37 years;1025 males[66.7%])with suspected hereditary cardiomyopathy or arrhythmia(covering 15 clinical phenotypes)are recruited from 146 hospitals across 30 provinces and cities in China.Positive results are confirmed in 390 of 1536 probands,leading to a diagnostic yield of 25.4%.Forty-two and three-tenths percent(n=169)of family members carry the same variants as positive probands.Hypertrophic cardiomyopathy(HCM)and dilated cardiomyopathy(DCM)are the predominant phenotypes,with MYBPC3 variants having the highest frequency in HCM and TTN variants in DCM.In 76.9%of the positive probands,the identified variants are helpful in clinical management,family screening,and fertility.This large-scale study provides significant insights into the genetic landscape of hereditary cardiomyopathies and arrhythmias in China.展开更多
Growing evidence suggests that abnormal lipid metabolism occurs in amyotrophic lateral sclerosis,even in the presymptomatic stage,implying an etiologic link.However,the genetic mechanism underlying altered lipid level...Growing evidence suggests that abnormal lipid metabolism occurs in amyotrophic lateral sclerosis,even in the presymptomatic stage,implying an etiologic link.However,the genetic mechanism underlying altered lipid levels in amyotrophic lateral sclerosis remains elusive.Therefore,in this study,we performed genetic correlation analysis,a cross-trait meta-analysis,tissue-specific enrichment analysis,and bidirectional two-sample Mendelian randomization analysis of European population to explore whether there is a genetic and causal relationship between lipids and amyotrophic lateral sclerosis.The effect of lipid-lowering drugs on amyotrophic lateral sclerosis was also evaluated using a drug target Mendelian randomization approach.The results showed a positive genetic correlation between amyotrophic lateral sclerosis and both high-density lipoprotein cholesterol and apolipoprotein A1 and identified 71 independent shared loci between amyotrophic lateral sclerosis and high-density lipoprotein cholesterol,as well as 55 independent shared loci between amyotrophic lateral sclerosis and apolipoprotein A1.These shared loci were enriched in the lipid metabolic pathway and the alcohol metabolic pathway.Further Mendelian randomization analysis targeting lipid-lowering drugs showed that single nucleotide polymorphisms within the ACLY and PCSK9 genes had a protective effect against amyotrophic lateral sclerosis risk by decreasing low-density lipoprotein cholesterol.The combination of ACLY and PCSK9 inhibitors has a greater protective effect on amyotrophic lateral sclerosis risk than that of PCSK9 inhibitors alone.In summary,there is a common genetic structure between lipids and amyotrophic lateral sclerosis.Mendelian randomization analysis supports an association between elevated blood lipids and the risk of developing amyotrophic lateral sclerosis,and the use of ACLY or PCSK9 inhibitors may improve disease prognosis.展开更多
Successful ex situ conservation of plant populations requires a high degree of genetic representativeness.However,spatially biased sampling in ex situ conservation efforts may fail to capture all wild genetic clusters...Successful ex situ conservation of plant populations requires a high degree of genetic representativeness.However,spatially biased sampling in ex situ conservation efforts may fail to capture all wild genetic clusters for species with range-wide genetic structure.To investigate the extent of spatially biased sampling in living collections and the coverage of wild genetic clusters in plant populations under ex situ conservation worldwide,we combined a global synthesis of ex situ conservation efforts with a case study of an endangered riparian plant species,Myricaria laxiflora.Our analysis of ex situ conservation worldwide revealed that the majority(82.6%)of ex situ populations fail to cover all wild genetic clusters,largely due to spatially biased sampling with low geographic coverage.Our case study of M.laxiflora showed that genetic diversity differed between the ex situ and upstream populations,while it was comparable between ex situ populations and other wild populations.However,current ex situ populations did not cover all wild genetic clusters,as the upstream genetic cluster was previously uncollected.Our study suggests that the failure to cover all wild genetic clusters in ex situ populations is a widespread issue,and ex situ populations with high genetic diversity can also fail to cover all wild genetic clusters.In future ex situ conservation programs,both the importance of high genetic diversity and the high coverage of wild genetic clusters should be prioritized.展开更多
Aiming to solve the steering instability and hysteresis of agricultural robots in the process of movement,a fusion PID control method of particle swarm optimization(PSO)and genetic algorithm(GA)was proposed.The fusion...Aiming to solve the steering instability and hysteresis of agricultural robots in the process of movement,a fusion PID control method of particle swarm optimization(PSO)and genetic algorithm(GA)was proposed.The fusion algorithm took advantage of the fast optimization ability of PSO to optimize the population screening link of GA.The Simulink simulation results showed that the convergence of the fitness function of the fusion algorithm was accelerated,the system response adjustment time was reduced,and the overshoot was almost zero.Then the algorithm was applied to the steering test of agricultural robot in various scenes.After modeling the steering system of agricultural robot,the steering test results in the unloaded suspended state showed that the PID control based on fusion algorithm reduced the rise time,response adjustment time and overshoot of the system,and improved the response speed and stability of the system,compared with the artificial trial and error PID control and the PID control based on GA.The actual road steering test results showed that the PID control response rise time based on the fusion algorithm was the shortest,about 4.43 s.When the target pulse number was set to 100,the actual mean value in the steady-state regulation stage was about 102.9,which was the closest to the target value among the three control methods,and the overshoot was reduced at the same time.The steering test results under various scene states showed that the PID control based on the proposed fusion algorithm had good anti-interference ability,it can adapt to the changes of environment and load and improve the performance of the control system.It was effective in the steering control of agricultural robot.This method can provide a reference for the precise steering control of other robots.展开更多
Despite Morocco's reliance on sunflower as an oilseed crop,little is known about its agronomic performance when sown in autumn or early winter.This knowledge gap is critical,as spring-sown varieties have shown dec...Despite Morocco's reliance on sunflower as an oilseed crop,little is known about its agronomic performance when sown in autumn or early winter.This knowledge gap is critical,as spring-sown varieties have shown declining performance in recent years under intensifying climate stress.Therefore,targeted breeding strategies could discover genotypes suitable for autumn or early winter sowing,with cold tolerance as a key selection criterion.Currently,‘Ichraq'is the only autumn-planted sunflower variety officially registered in Morocco,although efforts to release additional tolerant varieties are underway.This study evaluated 31 genotypes(MGB1to MGB31)selected from various environments under autumn planting conditions and conserved in the Moroccan Gene Bank.These genotypes were planted in early winter at a mountainous site known for its pronounced winter cold.Eighteen Morphological,physiological and agronomic parameters including initial vigor,leaf area,seed yield,oil content etc.,were assessed using both univariate and multivariate statistical approaches.Analysis of variance revealed significant genotypic differences across most traits,indicating substantial genetic variation.Notably,seed oil content ranged from 23.28%(MGB26)to 43.88%(MGB5),and seed yield from1400 kg/ha(MGB7)to 5400 kg/ha(MGB8).Principal component analysis(PCA)identified that the first principal component,accounting for over 24%of the total phenotypic variance,exhibits a strong positive loading of yield-related traits and chlorophyll content,while displaying a pronounced negative loading for oil content variables.This opposing gradient indicates a clear trade-off between vegetative productivity and oil accumulation across the evaluated genotypes.Hierarchical cluster analysis resolved the germplasm into two principal clusters with high within-group similarity,each further partitioned into relatively homogeneous subgroups.Notably,several genotypes outperformed the control variety Ichraq,underscoring their potential for autumn or early winter cultivation.Nonetheless,essential multi-environment trials remain to validate their phenotypic stability and to ascertain their value as genetic resources for sunflower breeding programs in Morocco and other Mediterranean agro-ecosystems.展开更多
The significance of purine base content as an important nutrition indicator in foods arises from its potential to trigger hyperuricemia or gout via high-purine diet.Livestock meats,including pork,generally contain mod...The significance of purine base content as an important nutrition indicator in foods arises from its potential to trigger hyperuricemia or gout via high-purine diet.Livestock meats,including pork,generally contain moderate to high total purine content(TP).Recent research revealed substantial variations within and across pig breeds,implying genetic factors influencing this trait.Thus,this study aimed to unravel the genetic underpinnings governing purine base content in pork.The heritability estimates(h~2)for the four purine traits ranged from 0.14 to 0.35.A total of 14,36,19 and 25 quantitative trait loci(QTLs)were identified for guanine,adenine,hypoxanthine,and TP,respectively.Our comprehensive gene set enrichment analysis and gene network analysis revealed 15 promising candidate genes intricately interwoven within diverse purine metabolism pathways,such as purine ribonucleotide metabolic process,purine nucleotide metabolism and transport,and purine salvage pathways,all contributing to TP.Strikingly,most genetic variants significantly associated with TP displayed analogous effects on multiple purine bases.Two distinct and highly significant QTLs(P<10^(–12))emerged on Sus scrofa chromosome(SSC)12:one impacting guanine content and the other concurrently influencing adenine and hypoxanthine levels.The peak of the guanine QTL on SSC12 resided 1.1 kb downstream of the transmembrane protein 238 like(TMEM238L)gene and is encapsulated within a genomic segment characterized by the histone modification H3K27me3.Focused fine-mapping for the SSC12 QTL associated with adenine and hypoxanthine levels narrowed its scope to around 172 kb,encompassing the growth arrest specific 7(GAS7)and myosin heavy chain 13(MYH13)genes.However,the observed QTL effect was not attributed to any missense mutations within the two genes.This pioneering study unveils the genetic variations and candidate genes associated with purine content in livestock,laying a robust foundation for the selective breeding of pig lines with reduced purine base content.展开更多
Flowering time is a critical agronomic trait with a profound effect on the productivity and adaptabillity of rapeseed(Brassica napus L.).Strategically advancing flowering time can reduce the risk of yield losses due t...Flowering time is a critical agronomic trait with a profound effect on the productivity and adaptabillity of rapeseed(Brassica napus L.).Strategically advancing flowering time can reduce the risk of yield losses due to extreme climatic conditions and facilitate the cultivation of subsequent crops on the same land,thereby enhancing overall agricultural efficiency.In this review,we synthesize current information on flowering time regulation in rapeseed through an integrated analysis of its genetic,hormonal,and environmental dimensions,emphasizing their crosstalk and implications for yield.We consolidate multi-omics evidence from population genetics,functional genomics,and systems biology to create a haplotype-based framework that overcomes the trade-off between flowering time and yield,providing support for the precision breeding of early-maturing cultivars.The insights presented here could inform future research on flowering time regulation and guide strategies for increasing rapeseed productivity.展开更多
Recent advancements in genome sequencing have enabled the estimation of genetic load through deleterious mutation profiling.However,Chinese populations remain underexplored in this context.We analyze whole-exome seque...Recent advancements in genome sequencing have enabled the estimation of genetic load through deleterious mutation profiling.However,Chinese populations remain underexplored in this context.We analyze whole-exome sequencing data from 5002 individuals,encompassing major Han subgroups―North Han(NHan),South Han(S-Han),and Guangxi Han(G-Han)―as well as 13 ethnic minorities.Notably,G-Han exhibits significant genetic affinity with the Zhuang population.Systematic curation of 2110 ClinVar pathogenic or likely pathogenic variants reveals 93.4%are ultra-rare.Exceptions include GJB2 rs72474224-A(hearing loss),which shows higher frequencies in Zhuang and G-Han,and β-thalassemia-associated HBB variants(rs33986703-A and rs33950507-T),which are elevated in G-Han compared to other Han subgroups.Among 96 autosomal dominant mutation carriers,LDLR variants are predominant(~25%),with comparable frequencies across Han subgroups.Adaptive signatures highlight gene-environment interactions:MTHFR rs1801133-A(UV adaptation)declines southward,while ALDH2 rs671-A(alcohol metabolism)displays the opposite trend.ABCC11 rs17822931-A,associated with cold adaptation,is particularly low frequency in G-Han.Gene-based rare-variant collapsing analyses identify an elevated risk of retinitis pigmentosa in S-Han(PRPF4,TUB).Our findings demonstrate that genetic load in Chinese populations is influenced by demographic history,population structure,and regional adaptation,emphasizing the importance of population-specific frameworks in precision medicine.展开更多
The demand for Erigeron breviscapus,a medicinal Compositae plant with cardiovascular therapeutic properties,has been increasing by 15%annually,exceeding production capacity and necessitating improvements in yield and ...The demand for Erigeron breviscapus,a medicinal Compositae plant with cardiovascular therapeutic properties,has been increasing by 15%annually,exceeding production capacity and necessitating improvements in yield and bioactive compound content.Genetic transformation remains essential for functional genomics,yet current Agrobacterium and biolistic methods are inefficient and expensive.In this study,we cloned the full-length sequences of the BABY BOOM,WUSCHEL and GROWTH-REGULATING FACTOR(GRF)genes of E.breviscapus and then transformed them into E.breviscapus explants.The transformation efficiency for the GRF gene reached 45%,and all the transgenic E.breviscapus plants were fertile without obvious developmental defects.Furthermore,we inserted EbGRF4 and Cas9-EbPDS-sgRNA into the same vector for Agrobacterium-mediated transformation to effectively knock out the PDS gene,resulting in albino seedlings,with a gene editing efficiency of 33.3%.These findings provide a solid foundation for functional genomic research and the genetic improvement of E.breviscapus,as well as an important reference for establishing high-efficiency genetic transformation systems for other medicinal plants.展开更多
Populus species,important economic species combining rapid growth with broad ecological adaptability,play a critical role in sustainable forestry and bioenergy production.In this study,we performed whole-genome resequ...Populus species,important economic species combining rapid growth with broad ecological adaptability,play a critical role in sustainable forestry and bioenergy production.In this study,we performed whole-genome resequencing of 707 individuals from a full-sib family to develop comprehensive single nucleotide polymorphism(SNP)markers and constructed a high-density genetic linkage map of 19 linkage groups.The total genetic length of the map reached 3623.65 cM with an average marker interval of 0.34 cM.By integrating multidimensional phenotypic data,89 quantitative trait loci(QTL)associated with growth,wood physical and chemical properties,disease resistance,and leaf morphology traits were identified,with logarithm of odds(LOD)scores ranging from 3.13 to 21.72 Notably,pleiotropic analysis revealed significant colocaliza and phenotypic variance explained between 1.7% and 11.6%.-tion hotspots on chromosomes LG1,LG5,LG6,LG8,and LG14,with epistatic interaction network analysis confirming genetic basis of coordinated regulation across multiple traits.Functional annotation of 207 candidate genes showed that R2R3-MYB and bHLH transcription factors and pyruvate kinase-encoding genes were significantly enriched,suggesting crucial roles in lignin biosynthesis and carbon metabolic pathways.Allelic effect analysis indicated that the frequency of favorable alleles associated with target traits ranged from 0.20 to 0.55.Incorporation of QTL-derived favorable alleles as random effects into Bayesian-based genomic selection models led to an increase in prediction accuracy ranging from 1% to 21%,with Bayesian ridge regression as the best predictive model.This study provides valuable genomic resources and genetic insights for deciphering complex trait architecture and advancing molecular breeding in poplar.展开更多
Bread wheat(Triticum aestivum L.)is a staple hexaploid crop with numerous wild relatives.However,domestication and modern breeding have significantly narrowed its genetic diversity,diminishing its capacity to adapt to...Bread wheat(Triticum aestivum L.)is a staple hexaploid crop with numerous wild relatives.However,domestication and modern breeding have significantly narrowed its genetic diversity,diminishing its capacity to adapt to climate change.Wild relatives of wheat serve as a vital reservoir of genetic diversity,offering traits thatenhance its resistance to various biotic and abiotic stresses.Over recent decades,remarkable progress has been made in utilizing superior genes from wild relatives to bolster wheat's defenses against diseases and pests,though the exploration of genes conferring abiotic stress tolerance has lagged behind.In this review,we summarize key advancements in the utilization of wild relatives for wheat enhancement over the past century,emphasizing both theoretical and technological innovations.Furthermore,we evaluate the potential contributions of wild relatives to address production challenges posed by climate change.We also explore strategies for isolating superior genes and developing prebreeding germplasm to support the future development of climate-resilient wheat varieties.展开更多
BACKGROUND Familial adenomatous polyposis(FAP)is a disorder of autosomal dominant inheritance that is responsible for around 1%of colorectal cancer(CRC)cases.AIM To determine the mutation profile of FAP-specific to th...BACKGROUND Familial adenomatous polyposis(FAP)is a disorder of autosomal dominant inheritance that is responsible for around 1%of colorectal cancer(CRC)cases.AIM To determine the mutation profile of FAP-specific to the Hungarian population.METHODS This prospective single-center study enrolled patients with clinically suspected FAP or attenuated FAP(aFAP).Whole-exome next-generation sequencing was performed to detect variants of 50 FAP priority genes and 173 CRC predisposing genes or other CRC disease-associated genes.To identify larger deletions and insertions,a multiplex amplifiable probe hybridization technique was used.The identified genes were then classified according to the American College of Medical Genetics and Genomics guidelines.RESULTS A total of 26 index patients with clinically suspected FAP(n=21)and aFAP(n=5)were enrolled.APC gene alterations were confirmed in 92.31%of the cases(region 1B deletion,n=2;whole-gene deletion,n=4;frameshift mutation,n=2;nonsense mutation,n=5,and splice mutation,n=1),with the remaining two cases having CHEK2 and MSH3 gene alterations.According to pathogenicity,21 cases had pathogenic mutations,6 cases had likely pathogenic mutations,and 16 cases had variants of unknown significance(VUS).The most frequent of the latter were the POLE(n=5)and PIEZO1(n=4)gene variants.CONCLUSION Germline mutations in the APC gene were confirmed in more than 90%of Hungarian patients with clinically suspected FAP.Although the role of VUS genes is unclear,they are highly likely to play a role in the development of CRC.展开更多
Coronavirus is an RNA virus that can infect both humans and animals,posing a significant threat to agriculture and public health.Although coronaviruses are highly host-specific,their ability to infect multiple hosts,c...Coronavirus is an RNA virus that can infect both humans and animals,posing a significant threat to agriculture and public health.Although coronaviruses are highly host-specific,their ability to infect multiple hosts,combined with the structure of their genome,gives them a high probability of genetic recombination and mutation,leading to the creation of novel viruses.In recent years,with the establishment and development of reverse genetic manipulation techniques,substantial technical support has been provided for studying the structure and function of the coronavirus genome,the development of novel vaccines and drugs and the construction of viral expression vectors.This paper briefly described the progress in research on coronaviruses and their reverse genetic system construction strategies,aiming to provide some references for future coronavirus research.展开更多
Root nodule symbiosis(RNS)is a mutualistic association formed between nitrogen-fixing rhizobia or Frankia and host plants limited to four orders within Rosid I―Fabales,Fagales,Cucurbitales,and Rosales―which comprise...Root nodule symbiosis(RNS)is a mutualistic association formed between nitrogen-fixing rhizobia or Frankia and host plants limited to four orders within Rosid I―Fabales,Fagales,Cucurbitales,and Rosales―which comprise the so-called‘Nitrogen Fixing Nodulation Clade’(NFNC).The majority of nodulation studies have focused on Leguminosae,given their agricultural and environmental importance,as well as the widespread occurrence of nodulation among members of this family.Endowing cereal crops with nitrogen fixation,like Leguminosae,presents a strategy to reduce the detrimental effects of synthetic fertilizer overuse.Different hypotheses on the origin of RNS have been proposed;however,key genetic innovations underlying the evolution of RNS,even in Leguminosae,have been rarely reported.In this review,we begin by examining current knowledge of genetic innovations―including gene gain,gene loss,and the acquisition or loss of conserved noncoding sequences(CNS)in preexisting genes.We explore the available evidence supporting these genetic innovations underlying the evolution of RNS in Leguminosae and offer the phylogenomics approach that could be applied to uncover these genetic innovations.Finally,we conclude by proposing a model of genetic innovations underlying the evolution of RNS in Leguminosae and consider the potential implications for the development of nitrogen-fixing crops.展开更多
Prevention of biological invasion requires understanding how alien species invade native communities.Although studies have identified mechanisms that underlie plant invasion in some habitats,limited attention has focu...Prevention of biological invasion requires understanding how alien species invade native communities.Although studies have identified mechanisms that underlie plant invasion in some habitats,limited attention has focused on invasion patterns along elevational gradients.In this study,we asked which factors drive the global and regional distribution of the invasive plant Galinsoga quadriradiata along elevational gradients.To answer this question,we examined whether human activities(i.e.,roads)promote G.quadriradiata invasion,how seed dispersal-related traits of G.quadriradiata change along elevation gradients,and whether G.quadriradiata has adapted to high-elevation environments through phenotypic plasticity or genetic variation.On the global scale,we found that human activities and road density positively contribute to the G.quadriradiata expansion in mountainous areas.Field surveys in China revealed significant elevational differences in the seed dispersal traits of G.quadriradiata,with higher-elevation populations exhibiting lower dispersal ability and generally lower genetic diversity.Under common conditions,high-elevation populations showed higher leaf mass ratio but lower root mass ratio and reproductive allocation.This suggests that high-elevation environments create a barrier to dispersal for G.quadriradiata,and that G.quadriradiata has adapted phenotypically to these conditions.Our study indicates that the elevational invasion pattern of G.quadriradiata is shaped by multiple factors,particularly human activities and phenotypic adaptability.In addition,our finding that G.quadriradiata invasion at high elevations is not constrained by low genetic diversity indicates that monitoring and management of G.quadriradiata in mountainous areas should be strengthened.展开更多
Peanuts(Arachis hypogaea) are important sources of vegetable oil,protein,and forage.The genus Arachis comprises nine intrageneric taxonomic sections encompassing 84 species.Most Arachis species are wild plants that se...Peanuts(Arachis hypogaea) are important sources of vegetable oil,protein,and forage.The genus Arachis comprises nine intrageneric taxonomic sections encompassing 84 species.Most Arachis species are wild plants that serve widely as forage and turfgrass.Furthermore,wild Arachis species provide valuable gene resources for broadening the genetic diversity of cultivated peanuts.To date,several key genes have been identified through the use of recombinant inbred lines derived from interspecific crosses within Arachis.Despite this progress,the application of genetic engineering to enhance peanut traits remains limited.This limitation arises primarily from the absence of a robust and reliable genetic transformation protocol for Arachis species.Nevertheless,evidence indicates that successful genetic transformation of Arachis plants was first reported approximately 30 years ago.Thus,a notable discrepancy exists between early reports of transformation success and the ongoing challenges in stably transferring candidate genes into Arachis genotypes.This review summarizes existing methods for regeneration and genetic transformation in Arachis,aiming to advance understanding of transgenic technologies applicable to this genus.展开更多
The operational demands of a wide range significantly exacerbate combustion instability issues within ramjet combustor.To suppress combustion oscillations,an open-loop control system utilizing Linear Genetic Programmi...The operational demands of a wide range significantly exacerbate combustion instability issues within ramjet combustor.To suppress combustion oscillations,an open-loop control system utilizing Linear Genetic Programming(LGP)has been developed for a full-scale annular ramjet combustor.The LGP is used to generate control laws that include multi-frequency forcing.These laws are then transformed into square waves to actuate the solenoid valve,which modulates the kerosene supply for open-loop control.The results show that the duty cycle has little effect on instability amplitude,whereas an increase in frequency leads to a remarked reduction in combustion amplitude.After five generations evolvements,the pressure amplitude is reduced by 40.6% under the optimal control law generated by LGP.Furthermore,the machine learning process is depicted using a proximity map of control law similarity,with the search pathway visualized by the steepest descent.All individuals go forward to the upper left corner of the map with the evolution process,terminating at the optimal individual of the fifth generation.展开更多
The growing recognition of the role of genetics in the development of amyotrophic lateral sclerosis is evident.However,there has yet to be a comprehensive analysis of the clinical characteristics and genetics of famil...The growing recognition of the role of genetics in the development of amyotrophic lateral sclerosis is evident.However,there has yet to be a comprehensive analysis of the clinical characteristics and genetics of familial amyotrophic lateral sclerosis in an Asian population.This study aimed to provide an in-depth analysis of the clinical features and genetic spectrum of familial amyotrophic lateral sclerosis over 15 years in a clinic-based cohort of patients from the Chinese mainland.Enrollment of 302 amyotrophic lateral sclerosis families from 28 provinces was undertaken from January 2008 to September 2023.A group-based trajectory model for disease progression based on amyotrophic lateral sclerosis Functional Rating Scale-Revised(ALSFRS-R)scores was validated using bootstrap internal validation in patients with familial amyotrophic lateral sclerosis,as well as patients with sporadic amyotrophic lateral sclerosis(matched at a 1:4 ratio,with replacement).DNA samples from 244 index patients were screened for variants in the pathogenic genes SOD1,FUS,TDP43,and C9ORF72,of which 146 were also subjected to genome-wide next-generation sequencing.Gene-level burden analysis was used to evaluate the distribution of rare variants in the cohort.We found that rapid dynamic disease progression was associated with an older age at onset,shorter diagnostic delay,lower body mass index,bulbar onset,and≥1 affected first-degree relative.Certain attributes,such as age at onset and time from onset to diagnosis,had comparable impacts on the clinical progression trajectories of both familial amyotrophic lateral sclerosis and sporadic amyotrophic lateral sclerosis.Harboring pathogenic/likely pathogenic variants in amyotrophic lateral sclerosis-causative genes reduced the age of onset of familial amyotrophic lateral sclerosis.Among the patients with familial amyotrophic lateral sclerosis,17.8%possessed≥2 pathogenic/likely pathogenic variants.Sequencing kernel association test analysis showed that the SOD1 rare variant burden(P=1.3e-15)was associated with a significant risk of familial amyotrophic lateral sclerosis.Our findings conclusively confirmed the clinical features and genetic spectrum of familial amyotrophic lateral sclerosis over 15 years in a clinical cohort from China,contributing to a deeper understanding of genotype-phenotype relationships in familial amyotrophic lateral sclerosis.This comprehensive evaluation of specific clinical characteristics,clinical prognosis,and genetic variants of amyotrophic lateral sclerosis based on detailed clinical and genetic information may lead to the development of genotype-specific treatment approaches.展开更多
文摘The etiopathogenesis of gastrointestinal diseases is varied in nature.Various etiogenic factors described are infective,inflammatory,viral,bacterial,parasitic,dietary and lifestyle change.Rare causative agents are immunological,and others associated as idiopathic,are undiagnosed by all possible means.Some of the rare diseases are congenital in nature,passing from the parent to the child.Many of the undiagnosed diseases are now being diagnosed as genetic and the genes have been implicated as a causative agent.There is a search for newer treatments for such diseases,which is called genomic medicine.Genomic medicine is an emerging medical discipline that involves the use of genomic information about an individual.This is used both for diagnostic as well as therapeutic decisions to improve the current health domain and pave the way for policymakers for its clinical use.In the developing era of precision medicine,genomics,epigenomics,environmental exposure,and other data would be used to more accurately guide individual diagnosis and treatment.Genomic medicine is already making an impact in the fields of oncology,pharmacology,rare,infectious and many undiagnosed diseases.It is beginning to fuel new approaches in certain medical specialties.Oncology is at the leading edge of incorporating genomics,as diagnostics for genetic and genomic markers are increasingly included in cancer screening,and to guide tailored treatment strategies.Genetics and genetic medicine have been reported to play a role in gastroenterology in several ways,including genetic testing(hereditary pancreatitis and hereditary gastrointestinal cancer syndromes).Genetic testing can also help subtype diseases,such as classifying pancreatitis as idiopathic or hereditary.Gene therapy is a promising approach for treating gastrointestinal diseases that are not effectively treated by conventional pharmaceuticals and surgeries.Gene therapy strategies include gene addition,gene editing,messenger RNA therapy,and gene silencing.Understanding genetic determinants,advances in genetics,have led to a better understanding of the genetic factors that contribute to human disease.Family-member risk stratification and genetic diagnosis can help identify family members who are at risk,which can lead to preventive treatments,lifestyle recommendations,and routine follow ups.Selecting target genes helps identify the gene targets associated with each gastrointestinal disease.Common gastrointestinal diseases associated with genetic abnormalities include-inflammatory bowel disease,gastroesophageal reflux disease,non-alcoholic fatty liver disease,and irritable bowel syndrome.With advancing tools and technology,research in the search of newer and individualized treatment,genes and genetic medicines are expected to play a significant role in human health and gastroenterology.
基金supported by Science,Technology&Innovation Project of Xiongan New Area(2023XAGG0069)National Key Research and Development Program of China(2022YFC2703100)+2 种基金National High Level Hospital Clinical Research Funding(2022-PUMCH-D-002)the National Natural Science Foundation of China(824B2011 to Z.W.)National High Level Hospital Clinical Research Funding(2023-PUMCH-E-012).
文摘Hereditary cardiomyopathies and arrhythmias are major contributors to cardiovascular morbidity and mortality.The advent of next-generation sequencing(NGS)has made genetic testing more accessible,which is crucial for precise diagnosis and targeted therapeutic strategies.The aim of this study is to explore the landscape of genetic variants,the relationship between specific variants and clinical phenotypes,and the impact on clinical decision-making in China.A total of 1536 probands(median age,37 years;1025 males[66.7%])with suspected hereditary cardiomyopathy or arrhythmia(covering 15 clinical phenotypes)are recruited from 146 hospitals across 30 provinces and cities in China.Positive results are confirmed in 390 of 1536 probands,leading to a diagnostic yield of 25.4%.Forty-two and three-tenths percent(n=169)of family members carry the same variants as positive probands.Hypertrophic cardiomyopathy(HCM)and dilated cardiomyopathy(DCM)are the predominant phenotypes,with MYBPC3 variants having the highest frequency in HCM and TTN variants in DCM.In 76.9%of the positive probands,the identified variants are helpful in clinical management,family screening,and fertility.This large-scale study provides significant insights into the genetic landscape of hereditary cardiomyopathies and arrhythmias in China.
基金funded by the National Natural Science Foundation of China,Nos.82401670(to KX),81873784(to DF),and 82071426(to DF)the Clinical Cohort Construction Program of Peking University Third Hospital,No.BYSYDL2019002(to DF)the Postdoctoral Fellowship Program of China Postdoctoral Science Foundation,No.GZC20230152(to KX).
文摘Growing evidence suggests that abnormal lipid metabolism occurs in amyotrophic lateral sclerosis,even in the presymptomatic stage,implying an etiologic link.However,the genetic mechanism underlying altered lipid levels in amyotrophic lateral sclerosis remains elusive.Therefore,in this study,we performed genetic correlation analysis,a cross-trait meta-analysis,tissue-specific enrichment analysis,and bidirectional two-sample Mendelian randomization analysis of European population to explore whether there is a genetic and causal relationship between lipids and amyotrophic lateral sclerosis.The effect of lipid-lowering drugs on amyotrophic lateral sclerosis was also evaluated using a drug target Mendelian randomization approach.The results showed a positive genetic correlation between amyotrophic lateral sclerosis and both high-density lipoprotein cholesterol and apolipoprotein A1 and identified 71 independent shared loci between amyotrophic lateral sclerosis and high-density lipoprotein cholesterol,as well as 55 independent shared loci between amyotrophic lateral sclerosis and apolipoprotein A1.These shared loci were enriched in the lipid metabolic pathway and the alcohol metabolic pathway.Further Mendelian randomization analysis targeting lipid-lowering drugs showed that single nucleotide polymorphisms within the ACLY and PCSK9 genes had a protective effect against amyotrophic lateral sclerosis risk by decreasing low-density lipoprotein cholesterol.The combination of ACLY and PCSK9 inhibitors has a greater protective effect on amyotrophic lateral sclerosis risk than that of PCSK9 inhibitors alone.In summary,there is a common genetic structure between lipids and amyotrophic lateral sclerosis.Mendelian randomization analysis supports an association between elevated blood lipids and the risk of developing amyotrophic lateral sclerosis,and the use of ACLY or PCSK9 inhibitors may improve disease prognosis.
基金supported by National Key Research and Development Program of China(2024YFF1307400)Hubei Provincial Natural Science Foundation and Three Gorges Innovation Development Joint Fund(Grant No.2023AFD195)China Three Gorges Corporation(NBZZ202300130).
文摘Successful ex situ conservation of plant populations requires a high degree of genetic representativeness.However,spatially biased sampling in ex situ conservation efforts may fail to capture all wild genetic clusters for species with range-wide genetic structure.To investigate the extent of spatially biased sampling in living collections and the coverage of wild genetic clusters in plant populations under ex situ conservation worldwide,we combined a global synthesis of ex situ conservation efforts with a case study of an endangered riparian plant species,Myricaria laxiflora.Our analysis of ex situ conservation worldwide revealed that the majority(82.6%)of ex situ populations fail to cover all wild genetic clusters,largely due to spatially biased sampling with low geographic coverage.Our case study of M.laxiflora showed that genetic diversity differed between the ex situ and upstream populations,while it was comparable between ex situ populations and other wild populations.However,current ex situ populations did not cover all wild genetic clusters,as the upstream genetic cluster was previously uncollected.Our study suggests that the failure to cover all wild genetic clusters in ex situ populations is a widespread issue,and ex situ populations with high genetic diversity can also fail to cover all wild genetic clusters.In future ex situ conservation programs,both the importance of high genetic diversity and the high coverage of wild genetic clusters should be prioritized.
文摘Aiming to solve the steering instability and hysteresis of agricultural robots in the process of movement,a fusion PID control method of particle swarm optimization(PSO)and genetic algorithm(GA)was proposed.The fusion algorithm took advantage of the fast optimization ability of PSO to optimize the population screening link of GA.The Simulink simulation results showed that the convergence of the fitness function of the fusion algorithm was accelerated,the system response adjustment time was reduced,and the overshoot was almost zero.Then the algorithm was applied to the steering test of agricultural robot in various scenes.After modeling the steering system of agricultural robot,the steering test results in the unloaded suspended state showed that the PID control based on fusion algorithm reduced the rise time,response adjustment time and overshoot of the system,and improved the response speed and stability of the system,compared with the artificial trial and error PID control and the PID control based on GA.The actual road steering test results showed that the PID control response rise time based on the fusion algorithm was the shortest,about 4.43 s.When the target pulse number was set to 100,the actual mean value in the steady-state regulation stage was about 102.9,which was the closest to the target value among the three control methods,and the overshoot was reduced at the same time.The steering test results under various scene states showed that the PID control based on the proposed fusion algorithm had good anti-interference ability,it can adapt to the changes of environment and load and improve the performance of the control system.It was effective in the steering control of agricultural robot.This method can provide a reference for the precise steering control of other robots.
文摘Despite Morocco's reliance on sunflower as an oilseed crop,little is known about its agronomic performance when sown in autumn or early winter.This knowledge gap is critical,as spring-sown varieties have shown declining performance in recent years under intensifying climate stress.Therefore,targeted breeding strategies could discover genotypes suitable for autumn or early winter sowing,with cold tolerance as a key selection criterion.Currently,‘Ichraq'is the only autumn-planted sunflower variety officially registered in Morocco,although efforts to release additional tolerant varieties are underway.This study evaluated 31 genotypes(MGB1to MGB31)selected from various environments under autumn planting conditions and conserved in the Moroccan Gene Bank.These genotypes were planted in early winter at a mountainous site known for its pronounced winter cold.Eighteen Morphological,physiological and agronomic parameters including initial vigor,leaf area,seed yield,oil content etc.,were assessed using both univariate and multivariate statistical approaches.Analysis of variance revealed significant genotypic differences across most traits,indicating substantial genetic variation.Notably,seed oil content ranged from 23.28%(MGB26)to 43.88%(MGB5),and seed yield from1400 kg/ha(MGB7)to 5400 kg/ha(MGB8).Principal component analysis(PCA)identified that the first principal component,accounting for over 24%of the total phenotypic variance,exhibits a strong positive loading of yield-related traits and chlorophyll content,while displaying a pronounced negative loading for oil content variables.This opposing gradient indicates a clear trade-off between vegetative productivity and oil accumulation across the evaluated genotypes.Hierarchical cluster analysis resolved the germplasm into two principal clusters with high within-group similarity,each further partitioned into relatively homogeneous subgroups.Notably,several genotypes outperformed the control variety Ichraq,underscoring their potential for autumn or early winter cultivation.Nonetheless,essential multi-environment trials remain to validate their phenotypic stability and to ascertain their value as genetic resources for sunflower breeding programs in Morocco and other Mediterranean agro-ecosystems.
基金support from the National Natural Science Foundation of China(32272855)STI 2030-Major Projects,China(2023ZD0404501)。
文摘The significance of purine base content as an important nutrition indicator in foods arises from its potential to trigger hyperuricemia or gout via high-purine diet.Livestock meats,including pork,generally contain moderate to high total purine content(TP).Recent research revealed substantial variations within and across pig breeds,implying genetic factors influencing this trait.Thus,this study aimed to unravel the genetic underpinnings governing purine base content in pork.The heritability estimates(h~2)for the four purine traits ranged from 0.14 to 0.35.A total of 14,36,19 and 25 quantitative trait loci(QTLs)were identified for guanine,adenine,hypoxanthine,and TP,respectively.Our comprehensive gene set enrichment analysis and gene network analysis revealed 15 promising candidate genes intricately interwoven within diverse purine metabolism pathways,such as purine ribonucleotide metabolic process,purine nucleotide metabolism and transport,and purine salvage pathways,all contributing to TP.Strikingly,most genetic variants significantly associated with TP displayed analogous effects on multiple purine bases.Two distinct and highly significant QTLs(P<10^(–12))emerged on Sus scrofa chromosome(SSC)12:one impacting guanine content and the other concurrently influencing adenine and hypoxanthine levels.The peak of the guanine QTL on SSC12 resided 1.1 kb downstream of the transmembrane protein 238 like(TMEM238L)gene and is encapsulated within a genomic segment characterized by the histone modification H3K27me3.Focused fine-mapping for the SSC12 QTL associated with adenine and hypoxanthine levels narrowed its scope to around 172 kb,encompassing the growth arrest specific 7(GAS7)and myosin heavy chain 13(MYH13)genes.However,the observed QTL effect was not attributed to any missense mutations within the two genes.This pioneering study unveils the genetic variations and candidate genes associated with purine content in livestock,laying a robust foundation for the selective breeding of pig lines with reduced purine base content.
基金supported by the National Key Research and Development Program of China(2022YFD1200400)the National Natural Science Foundation of China(32272111)+4 种基金Special fund for youth team of the Southwest Universities(SWU-XJPY202306)Chongqing Natural Science Foundation(CSTB2024NSCQLZX0012)Modern Agro-industry Technology Research System(CARS-12)Chongqing Modern Agricultural Industry Technology System(COMAITS202504)Biological Breeding-National Science and Technology Major Project(2022ZD04008).We sincerely appreciate the Plant Editors team for English language editing of the manuscript,which significantly improved its clarity and overall quality.
文摘Flowering time is a critical agronomic trait with a profound effect on the productivity and adaptabillity of rapeseed(Brassica napus L.).Strategically advancing flowering time can reduce the risk of yield losses due to extreme climatic conditions and facilitate the cultivation of subsequent crops on the same land,thereby enhancing overall agricultural efficiency.In this review,we synthesize current information on flowering time regulation in rapeseed through an integrated analysis of its genetic,hormonal,and environmental dimensions,emphasizing their crosstalk and implications for yield.We consolidate multi-omics evidence from population genetics,functional genomics,and systems biology to create a haplotype-based framework that overcomes the trade-off between flowering time and yield,providing support for the precision breeding of early-maturing cultivars.The insights presented here could inform future research on flowering time regulation and guide strategies for increasing rapeseed productivity.
基金supported by the National Natural Science Foundation of China(NSFC)grants(32030020,32288101,32470649,323B2013,32300499,32270665)the National Key Research and Development Program of China(2023YFC2605400)+1 种基金the Shanghai Science and Technology Commission Program(25JS2810100,23JS1410100,QNKJ2024023)the Office of Global Partnerships(Key Projects Development Fund).
文摘Recent advancements in genome sequencing have enabled the estimation of genetic load through deleterious mutation profiling.However,Chinese populations remain underexplored in this context.We analyze whole-exome sequencing data from 5002 individuals,encompassing major Han subgroups―North Han(NHan),South Han(S-Han),and Guangxi Han(G-Han)―as well as 13 ethnic minorities.Notably,G-Han exhibits significant genetic affinity with the Zhuang population.Systematic curation of 2110 ClinVar pathogenic or likely pathogenic variants reveals 93.4%are ultra-rare.Exceptions include GJB2 rs72474224-A(hearing loss),which shows higher frequencies in Zhuang and G-Han,and β-thalassemia-associated HBB variants(rs33986703-A and rs33950507-T),which are elevated in G-Han compared to other Han subgroups.Among 96 autosomal dominant mutation carriers,LDLR variants are predominant(~25%),with comparable frequencies across Han subgroups.Adaptive signatures highlight gene-environment interactions:MTHFR rs1801133-A(UV adaptation)declines southward,while ALDH2 rs671-A(alcohol metabolism)displays the opposite trend.ABCC11 rs17822931-A,associated with cold adaptation,is particularly low frequency in G-Han.Gene-based rare-variant collapsing analyses identify an elevated risk of retinitis pigmentosa in S-Han(PRPF4,TUB).Our findings demonstrate that genetic load in Chinese populations is influenced by demographic history,population structure,and regional adaptation,emphasizing the importance of population-specific frameworks in precision medicine.
基金supported by the National Natural Science Foundation of China(82160727)the Major Science and Technique Programs in Yunnan Province(202304BT090021-ML05)Yunnan Agricultural University research start-up Fund(KY2022-02).
文摘The demand for Erigeron breviscapus,a medicinal Compositae plant with cardiovascular therapeutic properties,has been increasing by 15%annually,exceeding production capacity and necessitating improvements in yield and bioactive compound content.Genetic transformation remains essential for functional genomics,yet current Agrobacterium and biolistic methods are inefficient and expensive.In this study,we cloned the full-length sequences of the BABY BOOM,WUSCHEL and GROWTH-REGULATING FACTOR(GRF)genes of E.breviscapus and then transformed them into E.breviscapus explants.The transformation efficiency for the GRF gene reached 45%,and all the transgenic E.breviscapus plants were fertile without obvious developmental defects.Furthermore,we inserted EbGRF4 and Cas9-EbPDS-sgRNA into the same vector for Agrobacterium-mediated transformation to effectively knock out the PDS gene,resulting in albino seedlings,with a gene editing efficiency of 33.3%.These findings provide a solid foundation for functional genomic research and the genetic improvement of E.breviscapus,as well as an important reference for establishing high-efficiency genetic transformation systems for other medicinal plants.
基金supported by the National Key Research and Development Plan of China(2021YFD2200202)the Key Research and Development Project of Jiangsu Province,China(BE2021366).
文摘Populus species,important economic species combining rapid growth with broad ecological adaptability,play a critical role in sustainable forestry and bioenergy production.In this study,we performed whole-genome resequencing of 707 individuals from a full-sib family to develop comprehensive single nucleotide polymorphism(SNP)markers and constructed a high-density genetic linkage map of 19 linkage groups.The total genetic length of the map reached 3623.65 cM with an average marker interval of 0.34 cM.By integrating multidimensional phenotypic data,89 quantitative trait loci(QTL)associated with growth,wood physical and chemical properties,disease resistance,and leaf morphology traits were identified,with logarithm of odds(LOD)scores ranging from 3.13 to 21.72 Notably,pleiotropic analysis revealed significant colocaliza and phenotypic variance explained between 1.7% and 11.6%.-tion hotspots on chromosomes LG1,LG5,LG6,LG8,and LG14,with epistatic interaction network analysis confirming genetic basis of coordinated regulation across multiple traits.Functional annotation of 207 candidate genes showed that R2R3-MYB and bHLH transcription factors and pyruvate kinase-encoding genes were significantly enriched,suggesting crucial roles in lignin biosynthesis and carbon metabolic pathways.Allelic effect analysis indicated that the frequency of favorable alleles associated with target traits ranged from 0.20 to 0.55.Incorporation of QTL-derived favorable alleles as random effects into Bayesian-based genomic selection models led to an increase in prediction accuracy ranging from 1% to 21%,with Bayesian ridge regression as the best predictive model.This study provides valuable genomic resources and genetic insights for deciphering complex trait architecture and advancing molecular breeding in poplar.
基金supported by the Biological Breeding-National Science and Technology Major Project(2023ZD04071)the National Key Research and Development Program of China(2023YFF1000600)and the National Natural Science Foundation of China(32272084,32372089,and 31971887).
文摘Bread wheat(Triticum aestivum L.)is a staple hexaploid crop with numerous wild relatives.However,domestication and modern breeding have significantly narrowed its genetic diversity,diminishing its capacity to adapt to climate change.Wild relatives of wheat serve as a vital reservoir of genetic diversity,offering traits thatenhance its resistance to various biotic and abiotic stresses.Over recent decades,remarkable progress has been made in utilizing superior genes from wild relatives to bolster wheat's defenses against diseases and pests,though the exploration of genes conferring abiotic stress tolerance has lagged behind.In this review,we summarize key advancements in the utilization of wild relatives for wheat enhancement over the past century,emphasizing both theoretical and technological innovations.Furthermore,we evaluate the potential contributions of wild relatives to address production challenges posed by climate change.We also explore strategies for isolating superior genes and developing prebreeding germplasm to support the future development of climate-resilient wheat varieties.
基金Supported by the Research Grants of the National Research,Development and Innovation Office,No.K125377,No.K134863 and No.K143549New National Excellence Program of the Ministry of Human Capacities,No.UNKP-20-5-SZTE-161,No.UNKP-22-3-SZTE-233,No.UNKP-23-5-SZTE-719,No.UNKP-22-4-SZTE-296 and No.UNKP-22-3-SZTE-278+1 种基金Janos Bolyai Research Grant,No.BO/00723/22the Géza Hetényi Research Grant by Albert Szent-Györgyi Medical School,University of Szeged.
文摘BACKGROUND Familial adenomatous polyposis(FAP)is a disorder of autosomal dominant inheritance that is responsible for around 1%of colorectal cancer(CRC)cases.AIM To determine the mutation profile of FAP-specific to the Hungarian population.METHODS This prospective single-center study enrolled patients with clinically suspected FAP or attenuated FAP(aFAP).Whole-exome next-generation sequencing was performed to detect variants of 50 FAP priority genes and 173 CRC predisposing genes or other CRC disease-associated genes.To identify larger deletions and insertions,a multiplex amplifiable probe hybridization technique was used.The identified genes were then classified according to the American College of Medical Genetics and Genomics guidelines.RESULTS A total of 26 index patients with clinically suspected FAP(n=21)and aFAP(n=5)were enrolled.APC gene alterations were confirmed in 92.31%of the cases(region 1B deletion,n=2;whole-gene deletion,n=4;frameshift mutation,n=2;nonsense mutation,n=5,and splice mutation,n=1),with the remaining two cases having CHEK2 and MSH3 gene alterations.According to pathogenicity,21 cases had pathogenic mutations,6 cases had likely pathogenic mutations,and 16 cases had variants of unknown significance(VUS).The most frequent of the latter were the POLE(n=5)and PIEZO1(n=4)gene variants.CONCLUSION Germline mutations in the APC gene were confirmed in more than 90%of Hungarian patients with clinically suspected FAP.Although the role of VUS genes is unclear,they are highly likely to play a role in the development of CRC.
基金Supported by the National Natural Science Foundation of China Joint Foundation Programme(U22A20527)。
文摘Coronavirus is an RNA virus that can infect both humans and animals,posing a significant threat to agriculture and public health.Although coronaviruses are highly host-specific,their ability to infect multiple hosts,combined with the structure of their genome,gives them a high probability of genetic recombination and mutation,leading to the creation of novel viruses.In recent years,with the establishment and development of reverse genetic manipulation techniques,substantial technical support has been provided for studying the structure and function of the coronavirus genome,the development of novel vaccines and drugs and the construction of viral expression vectors.This paper briefly described the progress in research on coronaviruses and their reverse genetic system construction strategies,aiming to provide some references for future coronavirus research.
基金supported by the National Natural Science Foundation of China(32300512)and the Xplorer Prize.
文摘Root nodule symbiosis(RNS)is a mutualistic association formed between nitrogen-fixing rhizobia or Frankia and host plants limited to four orders within Rosid I―Fabales,Fagales,Cucurbitales,and Rosales―which comprise the so-called‘Nitrogen Fixing Nodulation Clade’(NFNC).The majority of nodulation studies have focused on Leguminosae,given their agricultural and environmental importance,as well as the widespread occurrence of nodulation among members of this family.Endowing cereal crops with nitrogen fixation,like Leguminosae,presents a strategy to reduce the detrimental effects of synthetic fertilizer overuse.Different hypotheses on the origin of RNS have been proposed;however,key genetic innovations underlying the evolution of RNS,even in Leguminosae,have been rarely reported.In this review,we begin by examining current knowledge of genetic innovations―including gene gain,gene loss,and the acquisition or loss of conserved noncoding sequences(CNS)in preexisting genes.We explore the available evidence supporting these genetic innovations underlying the evolution of RNS in Leguminosae and offer the phylogenomics approach that could be applied to uncover these genetic innovations.Finally,we conclude by proposing a model of genetic innovations underlying the evolution of RNS in Leguminosae and consider the potential implications for the development of nitrogen-fixing crops.
基金supported by the National Natural Science Foundation of China(32271584 and 31600445)the Natural Science Basic Research Plan in Shaanxi Province of China(2020JM-286)+2 种基金the Fundamental Research Funds for the Central Universities(GK202103072,GK202103073)the National College Students'Innovative Entrepreneurial Training Plan Program(202310718085)Special Research Project in Philosophy and Social Sciences of Shaanxi Province(2022HZ1795).
文摘Prevention of biological invasion requires understanding how alien species invade native communities.Although studies have identified mechanisms that underlie plant invasion in some habitats,limited attention has focused on invasion patterns along elevational gradients.In this study,we asked which factors drive the global and regional distribution of the invasive plant Galinsoga quadriradiata along elevational gradients.To answer this question,we examined whether human activities(i.e.,roads)promote G.quadriradiata invasion,how seed dispersal-related traits of G.quadriradiata change along elevation gradients,and whether G.quadriradiata has adapted to high-elevation environments through phenotypic plasticity or genetic variation.On the global scale,we found that human activities and road density positively contribute to the G.quadriradiata expansion in mountainous areas.Field surveys in China revealed significant elevational differences in the seed dispersal traits of G.quadriradiata,with higher-elevation populations exhibiting lower dispersal ability and generally lower genetic diversity.Under common conditions,high-elevation populations showed higher leaf mass ratio but lower root mass ratio and reproductive allocation.This suggests that high-elevation environments create a barrier to dispersal for G.quadriradiata,and that G.quadriradiata has adapted phenotypically to these conditions.Our study indicates that the elevational invasion pattern of G.quadriradiata is shaped by multiple factors,particularly human activities and phenotypic adaptability.In addition,our finding that G.quadriradiata invasion at high elevations is not constrained by low genetic diversity indicates that monitoring and management of G.quadriradiata in mountainous areas should be strengthened.
基金funded by the Key R&D Program of Shandong Province,China (2024LZGC035)the Start-up Foundation for High Talents of Qingdao Agricultural University,China (665/1120012)。
文摘Peanuts(Arachis hypogaea) are important sources of vegetable oil,protein,and forage.The genus Arachis comprises nine intrageneric taxonomic sections encompassing 84 species.Most Arachis species are wild plants that serve widely as forage and turfgrass.Furthermore,wild Arachis species provide valuable gene resources for broadening the genetic diversity of cultivated peanuts.To date,several key genes have been identified through the use of recombinant inbred lines derived from interspecific crosses within Arachis.Despite this progress,the application of genetic engineering to enhance peanut traits remains limited.This limitation arises primarily from the absence of a robust and reliable genetic transformation protocol for Arachis species.Nevertheless,evidence indicates that successful genetic transformation of Arachis plants was first reported approximately 30 years ago.Thus,a notable discrepancy exists between early reports of transformation success and the ongoing challenges in stably transferring candidate genes into Arachis genotypes.This review summarizes existing methods for regeneration and genetic transformation in Arachis,aiming to advance understanding of transgenic technologies applicable to this genus.
基金support from the National Natural Science Foundation of China(No.12002372)the Young Elite Scientists Sponsorship Program by China Association for Science and Technology(No.2022QNRC001)the Natural Science Foundation of Hunan Province,China(No.2021JJ40674)。
文摘The operational demands of a wide range significantly exacerbate combustion instability issues within ramjet combustor.To suppress combustion oscillations,an open-loop control system utilizing Linear Genetic Programming(LGP)has been developed for a full-scale annular ramjet combustor.The LGP is used to generate control laws that include multi-frequency forcing.These laws are then transformed into square waves to actuate the solenoid valve,which modulates the kerosene supply for open-loop control.The results show that the duty cycle has little effect on instability amplitude,whereas an increase in frequency leads to a remarked reduction in combustion amplitude.After five generations evolvements,the pressure amplitude is reduced by 40.6% under the optimal control law generated by LGP.Furthermore,the machine learning process is depicted using a proximity map of control law similarity,with the search pathway visualized by the steepest descent.All individuals go forward to the upper left corner of the map with the evolution process,terminating at the optimal individual of the fifth generation.
基金supported by the Natural Science Foundation of Beijing,Nos.7244428(to WZ)and 7222215(to JH)the Peking University Medicine Sailing Program forYoung Scholars’Scientific and Technological Innovation,No.BMU2023YFJHPY034(to WZ)+4 种基金the National Natural Science Foundation of China,Nos.81873784,82071426(to DF),and81974197(to JH)the Clinical Cohort Construction Program of Peking University Third Hospital,No.BYSYDL2019002(to DF)Beijing Physician-Scientist TrainingProgram,No.BJPSTP-2024-03(to JH)the China Postdoctoral Science Foundation,Nos.2022TQ0014(to LX),2022M720284(to LX)the E-Town Cooperation&Development Foundation,No.YCXJ-JZ-2023-017(to LX).
文摘The growing recognition of the role of genetics in the development of amyotrophic lateral sclerosis is evident.However,there has yet to be a comprehensive analysis of the clinical characteristics and genetics of familial amyotrophic lateral sclerosis in an Asian population.This study aimed to provide an in-depth analysis of the clinical features and genetic spectrum of familial amyotrophic lateral sclerosis over 15 years in a clinic-based cohort of patients from the Chinese mainland.Enrollment of 302 amyotrophic lateral sclerosis families from 28 provinces was undertaken from January 2008 to September 2023.A group-based trajectory model for disease progression based on amyotrophic lateral sclerosis Functional Rating Scale-Revised(ALSFRS-R)scores was validated using bootstrap internal validation in patients with familial amyotrophic lateral sclerosis,as well as patients with sporadic amyotrophic lateral sclerosis(matched at a 1:4 ratio,with replacement).DNA samples from 244 index patients were screened for variants in the pathogenic genes SOD1,FUS,TDP43,and C9ORF72,of which 146 were also subjected to genome-wide next-generation sequencing.Gene-level burden analysis was used to evaluate the distribution of rare variants in the cohort.We found that rapid dynamic disease progression was associated with an older age at onset,shorter diagnostic delay,lower body mass index,bulbar onset,and≥1 affected first-degree relative.Certain attributes,such as age at onset and time from onset to diagnosis,had comparable impacts on the clinical progression trajectories of both familial amyotrophic lateral sclerosis and sporadic amyotrophic lateral sclerosis.Harboring pathogenic/likely pathogenic variants in amyotrophic lateral sclerosis-causative genes reduced the age of onset of familial amyotrophic lateral sclerosis.Among the patients with familial amyotrophic lateral sclerosis,17.8%possessed≥2 pathogenic/likely pathogenic variants.Sequencing kernel association test analysis showed that the SOD1 rare variant burden(P=1.3e-15)was associated with a significant risk of familial amyotrophic lateral sclerosis.Our findings conclusively confirmed the clinical features and genetic spectrum of familial amyotrophic lateral sclerosis over 15 years in a clinical cohort from China,contributing to a deeper understanding of genotype-phenotype relationships in familial amyotrophic lateral sclerosis.This comprehensive evaluation of specific clinical characteristics,clinical prognosis,and genetic variants of amyotrophic lateral sclerosis based on detailed clinical and genetic information may lead to the development of genotype-specific treatment approaches.
