BACKGROUND Transforming growth factor-β(TGF-β)superfamily plays an important role in tumor progression and metastasis.Activin A receptor type 1C(ACVR1C)is a TGF-βtype I receptor that is involved in tumorigenesis th...BACKGROUND Transforming growth factor-β(TGF-β)superfamily plays an important role in tumor progression and metastasis.Activin A receptor type 1C(ACVR1C)is a TGF-βtype I receptor that is involved in tumorigenesis through binding to dif-ferent ligands.AIM To evaluate the correlation between single nucleotide polymorphisms(SNPs)of ACVR1C and susceptibility to esophageal squamous cell carcinoma(ESCC)in Chinese Han population.METHODS In this hospital-based cohort study,1043 ESCC patients and 1143 healthy controls were enrolled.Five SNPs(rs4664229,rs4556933,rs77886248,rs77263459,rs6734630)of ACVR1C were assessed by the ligation detection reaction method.Hardy-Weinberg equilibrium test,genetic model analysis,stratified analysis,linkage disequi-librium test,and haplotype analysis were conducted.RESULTS Participants carrying ACVR1C rs4556933 GA mutant had significantly decreased risk of ESCC,and those with rs77886248 TA mutant were related with higher risk,especially in older male smokers.In the haplotype analysis,ACVR1C Trs4664229Ars4556933Trs77886248Crs77263459Ars6734630 increased risk of ESCC,while Trs4664229Grs4556933Trs77886248Crs77263459Ars6734630 was associated with lower susceptibility to ESCC.CONCLUSION ACVR1C rs4556933 and rs77886248 SNPs were associated with the susceptibility to ESCC,which could provide a potential target for early diagnosis and treatment of ESCC in Chinese Han population.展开更多
Present of wind power is sporadically and cannot be utilized as the only fundamental load of energy sources.This paper proposes a wind-solar hybrid energy storage system(HESS)to ensure a stable supply grid for a longe...Present of wind power is sporadically and cannot be utilized as the only fundamental load of energy sources.This paper proposes a wind-solar hybrid energy storage system(HESS)to ensure a stable supply grid for a longer period.A multi-objective genetic algorithm(MOGA)and state of charge(SOC)region division for the batteries are introduced to solve the objective function and configuration of the system capacity,respectively.MATLAB/Simulink was used for simulation test.The optimization results show that for a 0.5 MW wind power and 0.5 MW photovoltaic system,with a combination of a 300 Ah lithium battery,a 200 Ah lead-acid battery,and a water storage tank,the proposed strategy reduces the system construction cost by approximately 18,000 yuan.Additionally,the cycle count of the electrochemical energy storage systemincreases from4515 to 4660,while the depth of discharge decreases from 55.37%to 53.65%,achieving shallow charging and discharging,thereby extending battery life and reducing grid voltage fluctuations significantly.The proposed strategy is a guide for stabilizing the grid connection of wind and solar power generation,capability allocation,and energy management of energy conservation systems.展开更多
Paeonia suffruticosa Andr.is an endemic shrub flower in China with 2n=10.This study used 228 cultivars from four populations,i.e.,Jiangnan,Japan,Northwest,and Zhongyuan,as materials to explore the genetic diversity le...Paeonia suffruticosa Andr.is an endemic shrub flower in China with 2n=10.This study used 228 cultivars from four populations,i.e.,Jiangnan,Japan,Northwest,and Zhongyuan,as materials to explore the genetic diversity levels among different populations of tree peony varieties.The results showed that 34 bands were amplified using five pairs of cp SSR primers,with an average of 6.8 bands per primer pair.The average number of different alleles(N_(a)),effective alleles(N_(e)),Shannon's information index(I),diversity(H),and polymorphic information content(PIC)were 3.600,2.053,0.708,0.433,and 0.388,respectively.The PIC value was between 0.250 and 0.500,indicating a moderate level of polymorphism for the five cp SSR primer pairs.The genetic diversity levels of peony cultivars varied among different populations,with the Northwest population showing relatively lower levels(I=0.590,H=0.289,and PIC=0.263).A total of 52 haplotypes were identified in the four examined populations,and the number of haplotypes per population ranged from 11 to 22.Forty-four private haplotypes were detected across populations,and the Northwest population exhibiting the highest count of private haplotypes with 17.The mean number of effective number of haplotypes(N_(eh)),haplotypic richness(R_(h)),and diversity(H)were 8.351,6.824,and 0.893,respectively.Analysis of molecular variance indicated that genetic variation within tree peony germplasm was greater than that between germplasm resources,and the main variation was found within individuals of peony germplasm.Cluster analysis,principal coordinate analysis,and genetic structure analysis classified tree peonies from different origins into two groups,indicating a certain degree of genetic differentiation among these four tree peony cultivation groups.This study provides a theoretical basis for the exploration,utilization,and conservation of peony germplasm resources,as well as for research on the breeding of excellent varieties.展开更多
Agrobacterium tumefaciens-mediated transformation has been widely adopted for plant genetic engineering and the study of gene function(Krenek et al.,2015).This method is prevalent in the genetic transformation of herb...Agrobacterium tumefaciens-mediated transformation has been widely adopted for plant genetic engineering and the study of gene function(Krenek et al.,2015).This method is prevalent in the genetic transformation of herbaceous plants,with notable applications in species such as Arabidopsis(Yin et al.,2024),soybean(Zhang et al.,2024),rice(Zhang et al.,2020),and Chinese cabbage(Li et al.,2021).However,its application in fruit trees is limited.This is primarily due to their long growth cycles and lack of rapid,efficient,and stable transgenic systems,which severely hinders foundational research involving plant genetic transformation(Mei et al.,2024).Furthermore,for subtropical fruit trees,the presence of recalcitrant seeds adds an extra layer of difficulty to genetic transformation(Umarani et al.,2015),as most methods rely on seed germination as a basis for transformation.展开更多
Vestibular Migraine (VM) is a common neurological disorder characterized by recurrent episodes of vertigo and migraine symptoms. The pathogenesis of VM is complex and involves multiple genetic and environmental factor...Vestibular Migraine (VM) is a common neurological disorder characterized by recurrent episodes of vertigo and migraine symptoms. The pathogenesis of VM is complex and involves multiple genetic and environmental factors. Recent studies have suggested that the pathogenesis of vestibular migraine may be associated with variations in the CACNA1A gene, which is an important gene target for controlling calcium ion channels. Such variations may further affect the functions of the vestibular nervous system, thereby causing a series of vestibular nervous system-related symptoms. This article will summarize the genetic association studies of vestibular migraine, vestibular function studies, and research on how to establish relevant animal models to illustrate the possible association between CACNA1A variations and the pathogenesis of VM, providing new ideas for clarifying the pathogenesis of VM.展开更多
Inbreeding increases genome homozygosity within populations,which can exacerbate inbreeding depression by exposing homozygous deleterious alleles that are responsible for declines in fitness traits.In small population...Inbreeding increases genome homozygosity within populations,which can exacerbate inbreeding depression by exposing homozygous deleterious alleles that are responsible for declines in fitness traits.In small populations,genetic purging that occurs under the pressure of natural selection acts as an opposing force,contributing to a reduction of deleterious alleles.Both inbreeding and genetic purging are paramount in the field of conservation genomics.The Amur tiger(Panthera tigris altaica)lives in small populations in the forests of Northeast Asia and is among the most endangered animals on the planet.Using genome-wide assessment and comparison,we reveal substantially higher and more extensive inbreeding in wild Amur tigers(F_(ROH)=0.50)than in captive individuals(F_(ROH)=0.24).However,a relatively reduced number of lossof-function mutations in wild Amur tigers is observed compared to captive individuals,indicating genetic purging of inbreeding load with relatively large-effect alleles.The higher ratio of homozygous mutation load and number of fixed damaging alleles in the wild population indicates a less-efficient genetic purging,with purifying selection also contributing to this process.These findings provide valuable insights for the future conservation of Amur tigers.展开更多
In low-light environments,captured images often exhibit issues such as insufficient clarity and detail loss,which significantly degrade the accuracy of subsequent target recognition tasks.To tackle these challenges,th...In low-light environments,captured images often exhibit issues such as insufficient clarity and detail loss,which significantly degrade the accuracy of subsequent target recognition tasks.To tackle these challenges,this study presents a novel low-light image enhancement algorithm that leverages virtual hazy image generation through dehazing models based on statistical analysis.The proposed algorithm initiates the enhancement process by transforming the low-light image into a virtual hazy image,followed by image segmentation using a quadtree method.To improve the accuracy and robustness of atmospheric light estimation,the algorithm incorporates a genetic algorithm to optimize the quadtree-based estimation of atmospheric light regions.Additionally,this method employs an adaptive window adjustment mechanism to derive the dark channel prior image,which is subsequently refined using morphological operations and guided filtering.The final enhanced image is reconstructed through the hazy image degradation model.Extensive experimental evaluations across multiple datasets verify the superiority of the designed framework,achieving a peak signal-to-noise ratio(PSNR)of 17.09 and a structural similarity index(SSIM)of 0.74.These results indicate that the proposed algorithm not only effectively enhances image contrast and brightness but also outperforms traditional methods in terms of subjective and objective evaluation metrics.展开更多
Agricultural pests cause enormous losses in annual agricultural production.Understanding the evolutionary responses and adaptive capacity of agricultural pests under climate change is crucial for establishing sustaina...Agricultural pests cause enormous losses in annual agricultural production.Understanding the evolutionary responses and adaptive capacity of agricultural pests under climate change is crucial for establishing sustainable and environmentally friendly agricultural pest management.In this study,we integrate climate modeling and landscape genomics to investigate the distributional dynamics of the cotton bollworm(Helicoverpa armigera)in the adaptation to local environments and resilience to future climate change.Notably,the predicted inhabitable areas with higher suitability for the cotton bollworm could be eight times larger in the coming decades.Climate change is one of the factors driving the dynamics of distribution and population differentiation of the cotton bollworm.Approximately 19,000 years ago,the cotton bollworm expanded from its ancestral African population,followed by gradual occupations of the European,Asian,Oceanian,and American continents.Furthermore,we identify seven subpopulations with high dispersal and adaptability which may have an increased risk of invasion potential.Additionally,a large number of candidate genes and SNPs linked to climatic adaptation were mapped.These findings could inform sustainable pest management strategies in the face of climate change,aiding future pest forecasting and management planning.展开更多
Background:Over the past few decades,a threefold increase in obesity and type 2 diabetes(T2D)has placed a heavy burden on the health-care system and society.Previous studies have shown correlations between obesity,T2D...Background:Over the past few decades,a threefold increase in obesity and type 2 diabetes(T2D)has placed a heavy burden on the health-care system and society.Previous studies have shown correlations between obesity,T2D,and neurodegenera-tive diseases,including dementia.It is imperative to further understand the relation-ship between obesity,T2D,and cognitive deficits.Methods:This investigation tested and evaluated the cognitive impact of obesity and T2D induced by high-fat diet(HFD)and the effect of the host genetic background on the severity of cognitive decline caused by obesity and T2D in collaborative cross(CC)mice.The CC mice are a genetically diverse panel derived from eight inbred strains.Results:Our findings demonstrated significant variations in the recorded phenotypes across different CC lines compared to the reference mouse line,C57BL/6J.CC037 line exhibited a substantial increase in body weight on HFD,whereas line CC005 ex-hibited differing responses based on sex.Glucose tolerance tests revealed significant variations,with some lines like CC005 showing a marked increase in area under the curve(AUC)values on HFD.Organ weights,including brain,spleen,liver,and kidney,varied significantly among the lines and sexes in response to HFD.Behavioral tests using the Morris water maze indicated that cognitive performance was differentially affected by diet and genetic background.Conclusions:Our study establishes a foundation for future quantitative trait loci map-ping using CC lines and identifying genes underlying the comorbidity of Alzheimer's disease(AD),caused by obesity and T2D.The genetic components may offer new tools for early prediction and prevention.展开更多
Effect web will be an important combat means to achieve accurate,efficient,agile and reliable destruction of enemy targets.The use of Unmanned Aerial Vehicles(UAV)cluster in warfare has become a key element in the bat...Effect web will be an important combat means to achieve accurate,efficient,agile and reliable destruction of enemy targets.The use of Unmanned Aerial Vehicles(UAV)cluster in warfare has become a key element in the battle for military superiority between nations.The construction of UAV cluster effect web is a kind of combinatorial optimization in essence.By selecting the optimal combination in the limited equipment concentration,the whole network can be optimized.Firstly,in order to improve the combinatorial optimization efficiency of UAV cluster effect web,NSGA-Ⅱbased on deep Q-network(DQN-based NSGA-Ⅱ)is proposed.This algorithm is used to solve the Multi-Objective Combinatorial Optimization(MOCO)problem in the construction of effect web.Secondly,a dynamic generation method is devised to solve the problem caused by the possible destruction of enemy and our node under the fierce confrontation between the two sides.Finally,the simulation results show that the DQN-based NSGA-Ⅱis better than the genetic algorithm with single operator.The comparison experiment shows that the weight of evaluation indexes will have a corresponding influence on the optimization results.展开更多
BACKGROUND Cleidocranial dysplasia(CCD)is an infrequent clinical condition with an autosomal dominant inheritance pattern.It is characterized by abnormal clavicles,patent sutures and fontanelles,supernumerary teeth,an...BACKGROUND Cleidocranial dysplasia(CCD)is an infrequent clinical condition with an autosomal dominant inheritance pattern.It is characterized by abnormal clavicles,patent sutures and fontanelles,supernumerary teeth,and short stature.Approximately 60%-70%of patients with CCD have mutations in the RUNX family transcription factor 2 gene.However,prenatal diagnosis of CCD is difficult when the family history is unknown.CASE SUMMARY We report a rare case of fetal CCD with an unknown family history,confirmed by prenatal ultrasonography and genetic testing at a gestational age of 16 weeks.The genetic reports indicated that the fetus carried pathogenic mutations in the RUNX family transcription factor 2 gene(c.674G>A).After careful consideration,the pregnant woman and her family decided to continue the pregnancy.CONCLUSION Definitive prenatal diagnosis of CCD should include family history,ultrasound diagnosis,and genetic analysis,especially if family history is unknown.展开更多
The mussel is one of the main cultivated species in the world.A significant challenge faced by suspension-cultured mussels is the high incidence of mussel fall-off from cultivation ropes,adversely impacting harvest yi...The mussel is one of the main cultivated species in the world.A significant challenge faced by suspension-cultured mussels is the high incidence of mussel fall-off from cultivation ropes,adversely impacting harvest yields,which have been documented at commercial mussel farms in the United Kingdom,the United States of America,Canada,Spain,New Zealand and China.Byssus is an important attachment structure for marine mussels,and weakness in byssal thread attachment is a major factor leading to mussel detachment from ropes.To investigate the relationship between genetic variability and byssal thread phenotypic characteristics in the hard-shelled mussel(Mytilus coruscus),we collected three wild populations of M.coruscus from different latitudes in the East China Sea,including the Shengsi(SS),Jiaojiang(JJ),and Fuding(FD)populations.The genetic diversity and structure of these populations were investigated using 10 microsatellite loci.The mean observed heterozygosity(Ho)in the SS population was 0.44,higher than the mean Ho values of the JJ(0.40)and FD(0.39)populations.The mean inbreeding coefficients(F_(is))in the SS population was 0.20,lower than the mean F_(is)values of the JJ(0.33)and FD populations(0.40).These results revealed that the SS population exhibited higher genetic diversity compared to the other two populations.The different numbers of private alleles(P_(a))in the three populations,ranging from 10 to 17,suggest that these populations have experienced selective pressures from various environments.Moreover,genetic differentiation was observed in the genetic distance between the SS population and the other two populations.We also examined the phenotypic characteristics of their byssal threads.There were significant differences in byssus attachment strength among the three populations,with the SS population located at the highest latitude secreting more byssal threads and exhibiting greater byssal breaking force and plaque adhesion strength,while the Fuding(FD)population located at the lowest latitude had the weakest byssal attachment.The observed differentiation in private alleles and byssus phenotypes might suggest that the three wild populations have experienced different environmental selective pressures.This study provides insight for future genetic enhancement programs aimed at improving byssus attachment in M.coruscus.展开更多
The recent study of Ding et al provides valuable insights into the functional implications of novel mitochondrial tRNATrp and tRNASer(AGY)variants in type 2 diabetes mellitus(T2DM).This editorial explores their findin...The recent study of Ding et al provides valuable insights into the functional implications of novel mitochondrial tRNATrp and tRNASer(AGY)variants in type 2 diabetes mellitus(T2DM).This editorial explores their findings,highlighting the role of mitochondrial dysfunction in the pathogenesis of T2DM.By examining the molecular mechanisms through which these tRNA variants contribute to disease progression,the study introduces new targets for therapeutic strategies.We discuss the broader implications of these results,emphasizing the importance of understanding mitochondrial genetics in addressing T2DM.展开更多
Sotos syndrome is characterized by overgrowth features and is caused by alterations in the nuclear receptor binding SET domain protein 1 gene.Attentiondeficit/hyperactivity disorder(ADHD)is considered a neurodevelopme...Sotos syndrome is characterized by overgrowth features and is caused by alterations in the nuclear receptor binding SET domain protein 1 gene.Attentiondeficit/hyperactivity disorder(ADHD)is considered a neurodevelopment and psychiatric disorder in childhood.Genetic characteristics and clinical presentation could play an important role in the diagnosis of Sotos syndrome and ADHD.Magnetic resonance imaging(MRI)has been used to assess medical images in Sotos syndrome and ADHD.The images process is considered to display in MRI while wavelet fusion has been used to integrate distinct images for achieving more complete information in single image in this editorial.In the future,genetic mechanisms and artificial intelligence related to medical images could be used in the clinical diagnosis of Sotos syndrome and ADHD.展开更多
Polyploidization is a commonly employed strategy in crop breeding to augment genetic diversity,particularly leveraging the distinctive benefits of additional progressive heterosis or multi-generation heterosis unique ...Polyploidization is a commonly employed strategy in crop breeding to augment genetic diversity,particularly leveraging the distinctive benefits of additional progressive heterosis or multi-generation heterosis unique to polyploidy.Despite genetic disparities between polyploids and diploids,challenges stem from reproductive anomalies,complicating genetic investigations in polyploid systems.Through nearly two decades of intensive research,our team has effectively generated a series of fertile tetraploid lines known as neo-tetraploid rice(NTR),facilitating comparative genetic studies between diploid and tetraploid rice.In this study,we identified diploid counterparts(H3d and H8d)for two NTR lines[Huaduo 3(H3)and Huaduo 8(H8)]and utilized them to create diploid and tetraploid fertile F_(2) populations to assess genotype segregation ratios,recombination rates,and their impact on QTL mapping via bulked segregant analysis combined with sequencing(BSA-seq).Additionally,we assessed yield heterosis in F_(1) and F_(2) generations of two tetraploid populations(H3×H8 and T449×H1),revealing evidence of multi-generation heterosis in polyploid rice.These findings provide valuable insights into the advantages and challenges of polyploid rice breeding.展开更多
Shandong province,located in the Lower Yellow River,is one of the birthplaces of ancient Chinese civilization.However,the comprehensive genetic histories of this region have remained largely unknown until now due to a...Shandong province,located in the Lower Yellow River,is one of the birthplaces of ancient Chinese civilization.However,the comprehensive genetic histories of this region have remained largely unknown until now due to a lack of ancient human genomes.Here,we present 21 ancient genomes from Shandong dating from the Warring States period to the Northern Dynasties.Unlike the early Neolithic samples from Shandong,the historical samples are most closely related to post-Late Neolithic populations of the Middle Yellow River Basin,suggesting a population turnover in Shandong from the Neolithic Age to the Historical era.In addition,we detect a close genetic affinity between the historical samples in Shandong and present-day Han Chinese,showing long-term genetic stability in Han Chinese,at least since the Warring States period.展开更多
Background The molecular mechanisms of early-onset multigenerational diabetes remain unknown.This study aimed to investigate the clinical and genetic characteristics of early-onset diabetes involving at least two cons...Background The molecular mechanisms of early-onset multigenerational diabetes remain unknown.This study aimed to investigate the clinical and genetic characteristics of early-onset diabetes involving at least two consecutive generations.Methods From 1296 inpatients with diabetes,we selected individuals who were≤30 years of age and who were clinically suspected of having familial monogenic diabetes.Clinical data were collected from the probands and their family members.Whole-exome sequencing(WES)was used to identify possible causal variants for diabetes.Candidate pathogenic variants were verified by Sanger sequencing,assessed for cosegregation in family members,and evaluated on the basis of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology(ACMG/AMP)guidelines.Moreover,missense and synonymous variants were subjected to in silico pathogenicity prediction via MutationTaster and PolyPhen-2.RNAfold was used to predict RNA structural alterations for synonymous variants.Results Twenty-five early-onset diabetes patients with a history of familial diabetes were enrolled.Pathogenic/likely pathogenic variants(p.Gly292fs in HNF1A,p.Gly245Argfs*22 in PDX1,p.Asp329His in KCNJ11,p.Leu734Phe and p.Val606Gly in WFS1)were detected in four patients,who were diagnosed accurately and treated with reasonable hypoglycemic agents based on genetic testing results.The variants of uncertain significance(ABCC8 c.3039 G>A(p.Ser1013=Ser),MAPK8IP1 p.Gln144_Gly145insSerGln,and TBC1D4 p.Arg1249Trp)were identified in three probands.Conclusion Patients with early-onset diabetes involving at least two consecutive generations may harbor genetic variants.Genetic testing in this population enables precision diagnosis,informs individualized treatment,and facilitates genetic counseling.展开更多
The relationship between genetics and infectious diseases is important in shaping our understanding of disease susceptibility,progression,and treatment.Recent research shows the impact of genetic variations,such as he...The relationship between genetics and infectious diseases is important in shaping our understanding of disease susceptibility,progression,and treatment.Recent research shows the impact of genetic variations,such as heme-oxygenase promoter length,on diseases like malaria and sepsis,revealing both protective and inconclusive effects.Studies on vaccine responses highlight genetic markers like human leukocyte antigens,emphasizing the potential for personalized immunization strategies.The ongoing battle against drug-resistant tuberculosis(TB)illustrates the complexity of genomic variants in predicting resistance,highlighting the need for integrated diagnostic tools.Additionally,genome-wide association studies reveal antibiotic resistance mechanisms in bacterial genomes,while host genetic polymorphisms,such as those in solute carrier family 11 member 1 and vitamin D receptor,demonstrate their role in TB susceptibility.Advanced techniques like metagenomic next-generation sequencing promise detailed pathogen detection but face challenges in cost and accessibility.A case report involving a highly virulent Mycobacterium TB strain with the pks1 gene further highlights the need for genetic insights in understanding disease severity and developing targeted interventions.This evolving landscape emphasizes the role of genetics in infectious diseases,while also addressing the need for standardized studies and accessible technologies.展开更多
Introduction Tibetan sheep,economically important animals on the Qinghai–Tibet Plateau,have diversified into numerous local breeds with unique characteristics through prolonged environmental adaptation and selective ...Introduction Tibetan sheep,economically important animals on the Qinghai–Tibet Plateau,have diversified into numerous local breeds with unique characteristics through prolonged environmental adaptation and selective breeding.However,most current research focuses on one or two breeds,and lacks a comprehensive representa-tion of the genetic diversity across multiple Tibetan sheep breeds.This study aims to fill this gap by investigating the genetic structure,diversity and high-altitude adaptation of 6 Tibetan sheep breeds using whole-genome rese-quencing data.Results Six Tibetan sheep breeds were investigated in this study,and whole-genome resequencing data were used to investigate their genetic structure and population diversity.The results showed that the 6 Tibetan sheep breeds exhibited distinct separation in the phylogenetic tree;however,the levels of differentiation among the breeds were minimal,with extensive gene flow observed.Population structure analysis broadly categorized the 6 breeds into 3 distinct ecological types:plateau-type,valley-type and Euler-type.Analysis of unique single-nucleotide polymor-phisms(SNPs)and selective sweeps between Argali and Tibetan sheep revealed that Tibetan sheep domestication was associated primarily with sensory and signal transduction,nutrient absorption and metabolism,and growth and reproductive characteristics.Finally,comprehensive analysis of selective sweep and transcriptome data sug-gested that Tibetan sheep breeds inhabiting different altitudes on the Qinghai–Tibet Plateau adapt by enhancing cardiopulmonary function,regulating body fluid balance through renal reabsorption,and modifying nutrient diges-tion and absorption pathways.Conclusion In this study,we investigated the genetic diversity and population structure of 6 Tibetan sheep breeds in Qinghai Province,China.Additionally,we analyzed the domestication traits and investigated the unique adapta-tion mechanisms residing varying altitudes in the plateau region of Tibetan sheep.This study provides valuable insights into the evolutionary processes of Tibetan sheep in extreme environments.These findings will also contribute to the preservation of genetic diversity and offer a foundation for Tibetan sheep diversity preservation and plateau animal environmental adaptation mechanisms.展开更多
Understanding the evolutionary processes that influence the distribution of genetic diversity in natural populations is a key issue in evolutionary biology. Both species' distribution ranges and environmental grad...Understanding the evolutionary processes that influence the distribution of genetic diversity in natural populations is a key issue in evolutionary biology. Both species' distribution ranges and environmental gradients can influence this diversity through mechanisms such as gene flow, selection, and genetic drift. To explore how these forces interact, we assessed neutral and adaptive genetic variation in three widely distributed and two narrowly distributed bird species co-occurring along the Cauca River canyon in Antioquia, Colombia—a region of pronounced environmental heterogeneity. We sampled individuals across eight sites spanning the canyon's gradient and analyzed genetic diversity and structure using microsatellites and toll-like receptors (TLRs), a gene family involved in innate immunity. Widely distributed species consistently exhibited higher genetic diversity at both marker types compared to their narrowly distributed counterparts. Although we did not find a significant relationship between microsatellite heterozygosity and TLR heterozygosity, we evidenced a negative trend for widely distributed species and a positive trend for narrowly distributed species. This result suggests that there is a stronger effect of genetic drift in narrowly distributed species. Our results highlight the role of distribution range in maintaining genetic diversity and suggest that environmental gradients, by interacting with gene flow and selection, may influence patterns of adaptive variation.展开更多
基金Supported by The National Natural Science Foundation of China,No.82350127 and No.82241013the Shanghai Natural Science Foundation,No.20ZR1411600+2 种基金the Shanghai Shenkang Hospital Development Center,No.SHDC2020CR4039the Bethune Ethicon Excellent Surgery Foundation,No.CESS2021TC04Xuhui District Medical Research Project of Shanghai,No.SHXH201805.
文摘BACKGROUND Transforming growth factor-β(TGF-β)superfamily plays an important role in tumor progression and metastasis.Activin A receptor type 1C(ACVR1C)is a TGF-βtype I receptor that is involved in tumorigenesis through binding to dif-ferent ligands.AIM To evaluate the correlation between single nucleotide polymorphisms(SNPs)of ACVR1C and susceptibility to esophageal squamous cell carcinoma(ESCC)in Chinese Han population.METHODS In this hospital-based cohort study,1043 ESCC patients and 1143 healthy controls were enrolled.Five SNPs(rs4664229,rs4556933,rs77886248,rs77263459,rs6734630)of ACVR1C were assessed by the ligation detection reaction method.Hardy-Weinberg equilibrium test,genetic model analysis,stratified analysis,linkage disequi-librium test,and haplotype analysis were conducted.RESULTS Participants carrying ACVR1C rs4556933 GA mutant had significantly decreased risk of ESCC,and those with rs77886248 TA mutant were related with higher risk,especially in older male smokers.In the haplotype analysis,ACVR1C Trs4664229Ars4556933Trs77886248Crs77263459Ars6734630 increased risk of ESCC,while Trs4664229Grs4556933Trs77886248Crs77263459Ars6734630 was associated with lower susceptibility to ESCC.CONCLUSION ACVR1C rs4556933 and rs77886248 SNPs were associated with the susceptibility to ESCC,which could provide a potential target for early diagnosis and treatment of ESCC in Chinese Han population.
基金supported by a Horizontal Project on the Development of a Hybrid Energy Storage Simulation Model for Wind Power Based on an RT-LAB Simulation System(PH2023000190)the Inner Mongolia Natural Science Foundation Project and the Optimization of Exergy Efficiency of a Hybrid Energy Storage System with Crossover Control for Wind Power(2023JQ04).
文摘Present of wind power is sporadically and cannot be utilized as the only fundamental load of energy sources.This paper proposes a wind-solar hybrid energy storage system(HESS)to ensure a stable supply grid for a longer period.A multi-objective genetic algorithm(MOGA)and state of charge(SOC)region division for the batteries are introduced to solve the objective function and configuration of the system capacity,respectively.MATLAB/Simulink was used for simulation test.The optimization results show that for a 0.5 MW wind power and 0.5 MW photovoltaic system,with a combination of a 300 Ah lithium battery,a 200 Ah lead-acid battery,and a water storage tank,the proposed strategy reduces the system construction cost by approximately 18,000 yuan.Additionally,the cycle count of the electrochemical energy storage systemincreases from4515 to 4660,while the depth of discharge decreases from 55.37%to 53.65%,achieving shallow charging and discharging,thereby extending battery life and reducing grid voltage fluctuations significantly.The proposed strategy is a guide for stabilizing the grid connection of wind and solar power generation,capability allocation,and energy management of energy conservation systems.
基金supported by Innovation Scientists and Technicians Troop Construction Projects of Henan Province(Grant No.212101510003)the Central Plains Scholar Workstation Project(Grant No.224400510002)+1 种基金the Youth Science Foundation of Henan Province(Grant No.202300410136)the Experimental Development Foundation of Henan University of Science and Technology(Grant No.SY2324004)。
文摘Paeonia suffruticosa Andr.is an endemic shrub flower in China with 2n=10.This study used 228 cultivars from four populations,i.e.,Jiangnan,Japan,Northwest,and Zhongyuan,as materials to explore the genetic diversity levels among different populations of tree peony varieties.The results showed that 34 bands were amplified using five pairs of cp SSR primers,with an average of 6.8 bands per primer pair.The average number of different alleles(N_(a)),effective alleles(N_(e)),Shannon's information index(I),diversity(H),and polymorphic information content(PIC)were 3.600,2.053,0.708,0.433,and 0.388,respectively.The PIC value was between 0.250 and 0.500,indicating a moderate level of polymorphism for the five cp SSR primer pairs.The genetic diversity levels of peony cultivars varied among different populations,with the Northwest population showing relatively lower levels(I=0.590,H=0.289,and PIC=0.263).A total of 52 haplotypes were identified in the four examined populations,and the number of haplotypes per population ranged from 11 to 22.Forty-four private haplotypes were detected across populations,and the Northwest population exhibiting the highest count of private haplotypes with 17.The mean number of effective number of haplotypes(N_(eh)),haplotypic richness(R_(h)),and diversity(H)were 8.351,6.824,and 0.893,respectively.Analysis of molecular variance indicated that genetic variation within tree peony germplasm was greater than that between germplasm resources,and the main variation was found within individuals of peony germplasm.Cluster analysis,principal coordinate analysis,and genetic structure analysis classified tree peonies from different origins into two groups,indicating a certain degree of genetic differentiation among these four tree peony cultivation groups.This study provides a theoretical basis for the exploration,utilization,and conservation of peony germplasm resources,as well as for research on the breeding of excellent varieties.
基金funded by the Key-Area Research and Development Program of Guangdong Province(Grant No.2022B0202070002)the Guangxi Science and Technology Major Program(Grant No.GuikeAA23023007-2)+1 种基金the Guangdong Province Modern Agricultural Industry Technology System Innovation Team Construction Project(2024CXTD19)Guangdong Basic and Applied Basic Research Foundation(Grant No.2023A1515010303)。
文摘Agrobacterium tumefaciens-mediated transformation has been widely adopted for plant genetic engineering and the study of gene function(Krenek et al.,2015).This method is prevalent in the genetic transformation of herbaceous plants,with notable applications in species such as Arabidopsis(Yin et al.,2024),soybean(Zhang et al.,2024),rice(Zhang et al.,2020),and Chinese cabbage(Li et al.,2021).However,its application in fruit trees is limited.This is primarily due to their long growth cycles and lack of rapid,efficient,and stable transgenic systems,which severely hinders foundational research involving plant genetic transformation(Mei et al.,2024).Furthermore,for subtropical fruit trees,the presence of recalcitrant seeds adds an extra layer of difficulty to genetic transformation(Umarani et al.,2015),as most methods rely on seed germination as a basis for transformation.
文摘Vestibular Migraine (VM) is a common neurological disorder characterized by recurrent episodes of vertigo and migraine symptoms. The pathogenesis of VM is complex and involves multiple genetic and environmental factors. Recent studies have suggested that the pathogenesis of vestibular migraine may be associated with variations in the CACNA1A gene, which is an important gene target for controlling calcium ion channels. Such variations may further affect the functions of the vestibular nervous system, thereby causing a series of vestibular nervous system-related symptoms. This article will summarize the genetic association studies of vestibular migraine, vestibular function studies, and research on how to establish relevant animal models to illustrate the possible association between CACNA1A variations and the pathogenesis of VM, providing new ideas for clarifying the pathogenesis of VM.
基金supported by the Fundamental Research Funds for the Central Universities of China(2572022DQ03)the National Natural Science Foundation of China(32170517)+2 种基金the Guangdong Provincial Key Laboratory of Genome Read and Write(2017B030301011)the Start-up Scientific Foundation of Northeast Forestry University(60201524043)supported by China National GeneBank(CNGB).
文摘Inbreeding increases genome homozygosity within populations,which can exacerbate inbreeding depression by exposing homozygous deleterious alleles that are responsible for declines in fitness traits.In small populations,genetic purging that occurs under the pressure of natural selection acts as an opposing force,contributing to a reduction of deleterious alleles.Both inbreeding and genetic purging are paramount in the field of conservation genomics.The Amur tiger(Panthera tigris altaica)lives in small populations in the forests of Northeast Asia and is among the most endangered animals on the planet.Using genome-wide assessment and comparison,we reveal substantially higher and more extensive inbreeding in wild Amur tigers(F_(ROH)=0.50)than in captive individuals(F_(ROH)=0.24).However,a relatively reduced number of lossof-function mutations in wild Amur tigers is observed compared to captive individuals,indicating genetic purging of inbreeding load with relatively large-effect alleles.The higher ratio of homozygous mutation load and number of fixed damaging alleles in the wild population indicates a less-efficient genetic purging,with purifying selection also contributing to this process.These findings provide valuable insights for the future conservation of Amur tigers.
基金supported by the Natural Science Foundation of Shandong Province(nos.ZR2023MF047,ZR2024MA055 and ZR2023QF139)the Enterprise Commissioned Project(nos.2024HX104 and 2024HX140)+1 种基金the China University Industry-University-Research Innovation Foundation(nos.2021ZYA11003 and 2021ITA05032)the Science and Technology Plan for Youth Innovation of Shandong's Universities(no.2019KJN012).
文摘In low-light environments,captured images often exhibit issues such as insufficient clarity and detail loss,which significantly degrade the accuracy of subsequent target recognition tasks.To tackle these challenges,this study presents a novel low-light image enhancement algorithm that leverages virtual hazy image generation through dehazing models based on statistical analysis.The proposed algorithm initiates the enhancement process by transforming the low-light image into a virtual hazy image,followed by image segmentation using a quadtree method.To improve the accuracy and robustness of atmospheric light estimation,the algorithm incorporates a genetic algorithm to optimize the quadtree-based estimation of atmospheric light regions.Additionally,this method employs an adaptive window adjustment mechanism to derive the dark channel prior image,which is subsequently refined using morphological operations and guided filtering.The final enhanced image is reconstructed through the hazy image degradation model.Extensive experimental evaluations across multiple datasets verify the superiority of the designed framework,achieving a peak signal-to-noise ratio(PSNR)of 17.09 and a structural similarity index(SSIM)of 0.74.These results indicate that the proposed algorithm not only effectively enhances image contrast and brightness but also outperforms traditional methods in terms of subjective and objective evaluation metrics.
基金funded by the National Natural Science Foundation of China(32372546)Shenzhen Science and Technology Program(KQTD20180411143628272)+1 种基金the Agricultural Science and Technology Innovation Program of Chinese Academy of Agricultural Sciences and STI 2030-Major Projects(2022ZD04021)the National Key Research and Development Program of China(2023YFD2200700)。
文摘Agricultural pests cause enormous losses in annual agricultural production.Understanding the evolutionary responses and adaptive capacity of agricultural pests under climate change is crucial for establishing sustainable and environmentally friendly agricultural pest management.In this study,we integrate climate modeling and landscape genomics to investigate the distributional dynamics of the cotton bollworm(Helicoverpa armigera)in the adaptation to local environments and resilience to future climate change.Notably,the predicted inhabitable areas with higher suitability for the cotton bollworm could be eight times larger in the coming decades.Climate change is one of the factors driving the dynamics of distribution and population differentiation of the cotton bollworm.Approximately 19,000 years ago,the cotton bollworm expanded from its ancestral African population,followed by gradual occupations of the European,Asian,Oceanian,and American continents.Furthermore,we identify seven subpopulations with high dispersal and adaptability which may have an increased risk of invasion potential.Additionally,a large number of candidate genes and SNPs linked to climatic adaptation were mapped.These findings could inform sustainable pest management strategies in the face of climate change,aiding future pest forecasting and management planning.
文摘Background:Over the past few decades,a threefold increase in obesity and type 2 diabetes(T2D)has placed a heavy burden on the health-care system and society.Previous studies have shown correlations between obesity,T2D,and neurodegenera-tive diseases,including dementia.It is imperative to further understand the relation-ship between obesity,T2D,and cognitive deficits.Methods:This investigation tested and evaluated the cognitive impact of obesity and T2D induced by high-fat diet(HFD)and the effect of the host genetic background on the severity of cognitive decline caused by obesity and T2D in collaborative cross(CC)mice.The CC mice are a genetically diverse panel derived from eight inbred strains.Results:Our findings demonstrated significant variations in the recorded phenotypes across different CC lines compared to the reference mouse line,C57BL/6J.CC037 line exhibited a substantial increase in body weight on HFD,whereas line CC005 ex-hibited differing responses based on sex.Glucose tolerance tests revealed significant variations,with some lines like CC005 showing a marked increase in area under the curve(AUC)values on HFD.Organ weights,including brain,spleen,liver,and kidney,varied significantly among the lines and sexes in response to HFD.Behavioral tests using the Morris water maze indicated that cognitive performance was differentially affected by diet and genetic background.Conclusions:Our study establishes a foundation for future quantitative trait loci map-ping using CC lines and identifying genes underlying the comorbidity of Alzheimer's disease(AD),caused by obesity and T2D.The genetic components may offer new tools for early prediction and prevention.
基金co-supported by the Fundamental Research Funds for the Central Universities,China。
文摘Effect web will be an important combat means to achieve accurate,efficient,agile and reliable destruction of enemy targets.The use of Unmanned Aerial Vehicles(UAV)cluster in warfare has become a key element in the battle for military superiority between nations.The construction of UAV cluster effect web is a kind of combinatorial optimization in essence.By selecting the optimal combination in the limited equipment concentration,the whole network can be optimized.Firstly,in order to improve the combinatorial optimization efficiency of UAV cluster effect web,NSGA-Ⅱbased on deep Q-network(DQN-based NSGA-Ⅱ)is proposed.This algorithm is used to solve the Multi-Objective Combinatorial Optimization(MOCO)problem in the construction of effect web.Secondly,a dynamic generation method is devised to solve the problem caused by the possible destruction of enemy and our node under the fierce confrontation between the two sides.Finally,the simulation results show that the DQN-based NSGA-Ⅱis better than the genetic algorithm with single operator.The comparison experiment shows that the weight of evaluation indexes will have a corresponding influence on the optimization results.
基金Supported by Science and Technology Development Plan Project of Weifang,No.2023YX005。
文摘BACKGROUND Cleidocranial dysplasia(CCD)is an infrequent clinical condition with an autosomal dominant inheritance pattern.It is characterized by abnormal clavicles,patent sutures and fontanelles,supernumerary teeth,and short stature.Approximately 60%-70%of patients with CCD have mutations in the RUNX family transcription factor 2 gene.However,prenatal diagnosis of CCD is difficult when the family history is unknown.CASE SUMMARY We report a rare case of fetal CCD with an unknown family history,confirmed by prenatal ultrasonography and genetic testing at a gestational age of 16 weeks.The genetic reports indicated that the fetus carried pathogenic mutations in the RUNX family transcription factor 2 gene(c.674G>A).After careful consideration,the pregnant woman and her family decided to continue the pregnancy.CONCLUSION Definitive prenatal diagnosis of CCD should include family history,ultrasound diagnosis,and genetic analysis,especially if family history is unknown.
文摘The mussel is one of the main cultivated species in the world.A significant challenge faced by suspension-cultured mussels is the high incidence of mussel fall-off from cultivation ropes,adversely impacting harvest yields,which have been documented at commercial mussel farms in the United Kingdom,the United States of America,Canada,Spain,New Zealand and China.Byssus is an important attachment structure for marine mussels,and weakness in byssal thread attachment is a major factor leading to mussel detachment from ropes.To investigate the relationship between genetic variability and byssal thread phenotypic characteristics in the hard-shelled mussel(Mytilus coruscus),we collected three wild populations of M.coruscus from different latitudes in the East China Sea,including the Shengsi(SS),Jiaojiang(JJ),and Fuding(FD)populations.The genetic diversity and structure of these populations were investigated using 10 microsatellite loci.The mean observed heterozygosity(Ho)in the SS population was 0.44,higher than the mean Ho values of the JJ(0.40)and FD(0.39)populations.The mean inbreeding coefficients(F_(is))in the SS population was 0.20,lower than the mean F_(is)values of the JJ(0.33)and FD populations(0.40).These results revealed that the SS population exhibited higher genetic diversity compared to the other two populations.The different numbers of private alleles(P_(a))in the three populations,ranging from 10 to 17,suggest that these populations have experienced selective pressures from various environments.Moreover,genetic differentiation was observed in the genetic distance between the SS population and the other two populations.We also examined the phenotypic characteristics of their byssal threads.There were significant differences in byssus attachment strength among the three populations,with the SS population located at the highest latitude secreting more byssal threads and exhibiting greater byssal breaking force and plaque adhesion strength,while the Fuding(FD)population located at the lowest latitude had the weakest byssal attachment.The observed differentiation in private alleles and byssus phenotypes might suggest that the three wild populations have experienced different environmental selective pressures.This study provides insight for future genetic enhancement programs aimed at improving byssus attachment in M.coruscus.
文摘The recent study of Ding et al provides valuable insights into the functional implications of novel mitochondrial tRNATrp and tRNASer(AGY)variants in type 2 diabetes mellitus(T2DM).This editorial explores their findings,highlighting the role of mitochondrial dysfunction in the pathogenesis of T2DM.By examining the molecular mechanisms through which these tRNA variants contribute to disease progression,the study introduces new targets for therapeutic strategies.We discuss the broader implications of these results,emphasizing the importance of understanding mitochondrial genetics in addressing T2DM.
基金Supported by Natural Science Foundation of Shanghai,No.17ZR1431400National Key R and D Program of China,No.2017YFA0103902.
文摘Sotos syndrome is characterized by overgrowth features and is caused by alterations in the nuclear receptor binding SET domain protein 1 gene.Attentiondeficit/hyperactivity disorder(ADHD)is considered a neurodevelopment and psychiatric disorder in childhood.Genetic characteristics and clinical presentation could play an important role in the diagnosis of Sotos syndrome and ADHD.Magnetic resonance imaging(MRI)has been used to assess medical images in Sotos syndrome and ADHD.The images process is considered to display in MRI while wavelet fusion has been used to integrate distinct images for achieving more complete information in single image in this editorial.In the future,genetic mechanisms and artificial intelligence related to medical images could be used in the clinical diagnosis of Sotos syndrome and ADHD.
基金supported by the National Key Resarch and Development Program of China(Grant No.2023YFD1200802)the Base Bank of Lingnan Rice Germplasm Resources Project,China(Grant No.2024B1212060009).
文摘Polyploidization is a commonly employed strategy in crop breeding to augment genetic diversity,particularly leveraging the distinctive benefits of additional progressive heterosis or multi-generation heterosis unique to polyploidy.Despite genetic disparities between polyploids and diploids,challenges stem from reproductive anomalies,complicating genetic investigations in polyploid systems.Through nearly two decades of intensive research,our team has effectively generated a series of fertile tetraploid lines known as neo-tetraploid rice(NTR),facilitating comparative genetic studies between diploid and tetraploid rice.In this study,we identified diploid counterparts(H3d and H8d)for two NTR lines[Huaduo 3(H3)and Huaduo 8(H8)]and utilized them to create diploid and tetraploid fertile F_(2) populations to assess genotype segregation ratios,recombination rates,and their impact on QTL mapping via bulked segregant analysis combined with sequencing(BSA-seq).Additionally,we assessed yield heterosis in F_(1) and F_(2) generations of two tetraploid populations(H3×H8 and T449×H1),revealing evidence of multi-generation heterosis in polyploid rice.These findings provide valuable insights into the advantages and challenges of polyploid rice breeding.
基金funded by the Shandong Province Humanities and Social Sciences Project“Sorting and Research on Human Bones of Han Dynasty Excavated from the Medical Center Cemetery in Linzi”granted to Zhigang Wu(2022-JCLS-12)the National Key Research and Development Program(2023YFC3303701-02)+5 种基金the National Natural Science Foundation of China(32270667)the Natural Science Foundation of Fujian Province of China(2023J06013)the Major Project of the National Social Science Foundation of China granted to Chuan-Chao Wang(21&ZD285)Open Research Fund of State Key Laboratory of Genetic Engineering at Fudan University(No.SKLGE-2310)Open Research Fund of Forensic Genetics Key Laboratory of the Ministry of Public Security(2023FGKFKT07)Major Special Project of Philosophy and Social Sciences Research of the Ministry of Education(2022JZDZ023).
文摘Shandong province,located in the Lower Yellow River,is one of the birthplaces of ancient Chinese civilization.However,the comprehensive genetic histories of this region have remained largely unknown until now due to a lack of ancient human genomes.Here,we present 21 ancient genomes from Shandong dating from the Warring States period to the Northern Dynasties.Unlike the early Neolithic samples from Shandong,the historical samples are most closely related to post-Late Neolithic populations of the Middle Yellow River Basin,suggesting a population turnover in Shandong from the Neolithic Age to the Historical era.In addition,we detect a close genetic affinity between the historical samples in Shandong and present-day Han Chinese,showing long-term genetic stability in Han Chinese,at least since the Warring States period.
基金supported by Diabetes Talent Research Project of China,International Medical Foundation 2019(No.2018-N-1).
文摘Background The molecular mechanisms of early-onset multigenerational diabetes remain unknown.This study aimed to investigate the clinical and genetic characteristics of early-onset diabetes involving at least two consecutive generations.Methods From 1296 inpatients with diabetes,we selected individuals who were≤30 years of age and who were clinically suspected of having familial monogenic diabetes.Clinical data were collected from the probands and their family members.Whole-exome sequencing(WES)was used to identify possible causal variants for diabetes.Candidate pathogenic variants were verified by Sanger sequencing,assessed for cosegregation in family members,and evaluated on the basis of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology(ACMG/AMP)guidelines.Moreover,missense and synonymous variants were subjected to in silico pathogenicity prediction via MutationTaster and PolyPhen-2.RNAfold was used to predict RNA structural alterations for synonymous variants.Results Twenty-five early-onset diabetes patients with a history of familial diabetes were enrolled.Pathogenic/likely pathogenic variants(p.Gly292fs in HNF1A,p.Gly245Argfs*22 in PDX1,p.Asp329His in KCNJ11,p.Leu734Phe and p.Val606Gly in WFS1)were detected in four patients,who were diagnosed accurately and treated with reasonable hypoglycemic agents based on genetic testing results.The variants of uncertain significance(ABCC8 c.3039 G>A(p.Ser1013=Ser),MAPK8IP1 p.Gln144_Gly145insSerGln,and TBC1D4 p.Arg1249Trp)were identified in three probands.Conclusion Patients with early-onset diabetes involving at least two consecutive generations may harbor genetic variants.Genetic testing in this population enables precision diagnosis,informs individualized treatment,and facilitates genetic counseling.
文摘The relationship between genetics and infectious diseases is important in shaping our understanding of disease susceptibility,progression,and treatment.Recent research shows the impact of genetic variations,such as heme-oxygenase promoter length,on diseases like malaria and sepsis,revealing both protective and inconclusive effects.Studies on vaccine responses highlight genetic markers like human leukocyte antigens,emphasizing the potential for personalized immunization strategies.The ongoing battle against drug-resistant tuberculosis(TB)illustrates the complexity of genomic variants in predicting resistance,highlighting the need for integrated diagnostic tools.Additionally,genome-wide association studies reveal antibiotic resistance mechanisms in bacterial genomes,while host genetic polymorphisms,such as those in solute carrier family 11 member 1 and vitamin D receptor,demonstrate their role in TB susceptibility.Advanced techniques like metagenomic next-generation sequencing promise detailed pathogen detection but face challenges in cost and accessibility.A case report involving a highly virulent Mycobacterium TB strain with the pks1 gene further highlights the need for genetic insights in understanding disease severity and developing targeted interventions.This evolving landscape emphasizes the role of genetics in infectious diseases,while also addressing the need for standardized studies and accessible technologies.
基金supported by the Natural Science Foundation of Qinghai Province(No.2022-ZJ-901)the National Breeding Joint Research Project。
文摘Introduction Tibetan sheep,economically important animals on the Qinghai–Tibet Plateau,have diversified into numerous local breeds with unique characteristics through prolonged environmental adaptation and selective breeding.However,most current research focuses on one or two breeds,and lacks a comprehensive representa-tion of the genetic diversity across multiple Tibetan sheep breeds.This study aims to fill this gap by investigating the genetic structure,diversity and high-altitude adaptation of 6 Tibetan sheep breeds using whole-genome rese-quencing data.Results Six Tibetan sheep breeds were investigated in this study,and whole-genome resequencing data were used to investigate their genetic structure and population diversity.The results showed that the 6 Tibetan sheep breeds exhibited distinct separation in the phylogenetic tree;however,the levels of differentiation among the breeds were minimal,with extensive gene flow observed.Population structure analysis broadly categorized the 6 breeds into 3 distinct ecological types:plateau-type,valley-type and Euler-type.Analysis of unique single-nucleotide polymor-phisms(SNPs)and selective sweeps between Argali and Tibetan sheep revealed that Tibetan sheep domestication was associated primarily with sensory and signal transduction,nutrient absorption and metabolism,and growth and reproductive characteristics.Finally,comprehensive analysis of selective sweep and transcriptome data sug-gested that Tibetan sheep breeds inhabiting different altitudes on the Qinghai–Tibet Plateau adapt by enhancing cardiopulmonary function,regulating body fluid balance through renal reabsorption,and modifying nutrient diges-tion and absorption pathways.Conclusion In this study,we investigated the genetic diversity and population structure of 6 Tibetan sheep breeds in Qinghai Province,China.Additionally,we analyzed the domestication traits and investigated the unique adapta-tion mechanisms residing varying altitudes in the plateau region of Tibetan sheep.This study provides valuable insights into the evolutionary processes of Tibetan sheep in extreme environments.These findings will also contribute to the preservation of genetic diversity and offer a foundation for Tibetan sheep diversity preservation and plateau animal environmental adaptation mechanisms.
基金funded by the Empresas Públicas de Medellín and Universidad de Antioquia.
文摘Understanding the evolutionary processes that influence the distribution of genetic diversity in natural populations is a key issue in evolutionary biology. Both species' distribution ranges and environmental gradients can influence this diversity through mechanisms such as gene flow, selection, and genetic drift. To explore how these forces interact, we assessed neutral and adaptive genetic variation in three widely distributed and two narrowly distributed bird species co-occurring along the Cauca River canyon in Antioquia, Colombia—a region of pronounced environmental heterogeneity. We sampled individuals across eight sites spanning the canyon's gradient and analyzed genetic diversity and structure using microsatellites and toll-like receptors (TLRs), a gene family involved in innate immunity. Widely distributed species consistently exhibited higher genetic diversity at both marker types compared to their narrowly distributed counterparts. Although we did not find a significant relationship between microsatellite heterozygosity and TLR heterozygosity, we evidenced a negative trend for widely distributed species and a positive trend for narrowly distributed species. This result suggests that there is a stronger effect of genetic drift in narrowly distributed species. Our results highlight the role of distribution range in maintaining genetic diversity and suggest that environmental gradients, by interacting with gene flow and selection, may influence patterns of adaptive variation.
