Uveal melanoma(UM)is the most common intraocular cancer,with approximately 5.2 individuals per million affected annually in the United States.It represents approximately 3%of the global malignant melanoma cases,accoun...Uveal melanoma(UM)is the most common intraocular cancer,with approximately 5.2 individuals per million affected annually in the United States.It represents approximately 3%of the global malignant melanoma cases,accounting for 80%of the overall noncutaneous melanomas.Clinically,it remains silent in about 30%of the cases;when symptomatic,it generally causes metamorphopsia(painless loss or distortion of vision)and/or photopsia(flashing or flickering of light in the visual field).Discoloration of the iris,astigmatism,glaucoma,and even blindness are other,less common clinical manifestations.Several pathophysiological mechanisms underlie the development of UM.Genetic mutations,involving especially the G protein subunit alpha q(GNAQ),guanine nucleotide-binding protein subunit alpha-11(GNA11),BRCA1 associated deubiquitinase 1(BAP1),splicing factor 3b subunit 1(SF3B1),and eukaryotic translation initiation factor 1A,X-linked(EIF1AX)genes as well as the MAPK/ERK signaling pathway genes,have been largely associated with the development of UM.Chromosomal aberrations,inflammatory and immunological alterations are often concurrent factors for the development and progression of UM.Therapies targeting specific genetic alterations and immunotherapy agents have been recently developed and introduced in clinical practice for the management of advanced-stage UMs.This review aims to present the latest advances in the clinical molecular pathology of UM,along with the resulting targeted,immunological,and other therapies that have been introduced or are currently under investigation.展开更多
The history of medical genetics is briefly reviewed. It is evident that medical genetics with its inseparable part, clinical genetics, started out as a cfinical science from the very beginning. Its robust development ...The history of medical genetics is briefly reviewed. It is evident that medical genetics with its inseparable part, clinical genetics, started out as a cfinical science from the very beginning. Its robust development in the developed countries is the result of a close interaction between the basic sciences and clinical genetics. In China, however, clinical genetics has not received due emphasis and medical genetics is still not recognized as one of the medical specialties. This is in marked contrast to the situation in the West. It is high time to acknowledge that medical genetics is a medical specialty and to promote clinical genetics service in qualified hospitals in our country.展开更多
This paper collected and arranged competitive scientific research projects undertaken by Tropical Crops Genetic Resources Institute of Chinese Academy of Tropical Agricultural Sciences in 2003-2014. Through statistica...This paper collected and arranged competitive scientific research projects undertaken by Tropical Crops Genetic Resources Institute of Chinese Academy of Tropical Agricultural Sciences in 2003-2014. Through statistical analysis on quantity of projects,funded amount,age of person responsible,professional title of person responsible,academic degree of person responsible,research object,it discussed relevant characteristics and rules. Finally,it came up with pertinent measures and recommendations,in the hope of providing services for decision-making and scientific and technological management.展开更多
Taking Tropical Crops Genetic Resources Institute( TCGRI) of Chinese Academy of Tropical Agricultural Sciences( CATAS) as an example,this paper discussed current situation of construction of sci-tech platform,analyzed...Taking Tropical Crops Genetic Resources Institute( TCGRI) of Chinese Academy of Tropical Agricultural Sciences( CATAS) as an example,this paper discussed current situation of construction of sci-tech platform,analyzed existing problems,and finally came up with pertinent recommendations.展开更多
Grapevine is one of the most economically important crops worldwide.However,the previous versions of the grapevine reference genome tipically consist of thousands of fragments with missing centromeres and telomeres,li...Grapevine is one of the most economically important crops worldwide.However,the previous versions of the grapevine reference genome tipically consist of thousands of fragments with missing centromeres and telomeres,limiting the accessibility of the repetitive sequences,the centromeric and telomeric regions,and the study of inheritance of important agronomic traits in these regions.Here,we assembled a telomere-to-telomere(T2T)gap-free reference genome for the cultivar PN40024 using PacBio HiFi long reads.The T2T reference genome(PN_T2T)is 69 Mb longer with 9018 more genes identified than the 12X.v0 version.We annotated 67%repetitive sequences,19 centromeres and 36 telomeres,and incorporated gene annotations of previous versions into the PN_T2T assembly.We detected a total of 377 gene clusters,which showed associations with complex traits,such as aroma and disease resistance.Even though PN40024 derives from nine generations of selfing,we still found nine genomic hotspots of heterozygous sites associated with biological processes,such as the oxidation–reduction process and protein phosphorylation.The fully annotated complete reference genome therefore constitutes an important resource for grapevine genetic studies and breeding programs.展开更多
Banana fruit ripening is a highly regulatory process involving various layers consisting of transcriptional regulation,epigenetic factor,and post-translational modification.Previously,we reported that MaERF11 cooperat...Banana fruit ripening is a highly regulatory process involving various layers consisting of transcriptional regulation,epigenetic factor,and post-translational modification.Previously,we reported that MaERF11 cooperated with MaHDA1 to precisely regulate the transcription of ripening-associated genes via histone deacetylation.However,whether MaERF11 is subjected to post-translational modification during banana ripening is largely unknown.In this study,we found that MaERF11 targeted a subset of starch degradation-related genes using the DNA affinity purification sequence(DAP-Seq)approach.Electrophoretic mobility shift assay(EMSA)and dual-luciferase reporter assay(DLR)demonstrated that MaERF11 could specifically bind and repress the expression of the starch degradation-related genes MaAMY3,MaBAM2 and MaGWD1.Further analyses of yeast two-hybrid(Y2H),bimolecular fluorescence complementation(BiFC)and Luciferase complementation imaging(LCI)assays indicated that MaERF11 interacted with the ubiquitin E3 ligase MaRFA1,and this interaction weakened the MaERF11-mediated transcriptional repression capacity.Collectively,our results suggest an additional regulatory layer in which MaERF11 regulates banana fruit ripening and expands the regulatory network in fruit ripening at the post-translational modification level.展开更多
This study aimed to investigate the effects of dietary guanidinoacetic acid on growth performance,meat quality,antioxidant activity,and antioxidant-related gene expression in ducks.Total 48042-day-old female ducks wer...This study aimed to investigate the effects of dietary guanidinoacetic acid on growth performance,meat quality,antioxidant activity,and antioxidant-related gene expression in ducks.Total 48042-day-old female ducks were randomly divided into four groups with six replicates and 20 ducks per replicate and fed the basal diet to the control group.The experimental groups were fed the basal diet with 400,600 and 800 mg·kg^(-1) guanidinoacetic acid,respectively.The trial lasted 48 days.Compared with the control group,(1)the body weight at 90 days and average daily gain were increased(P<0.05),the feed conservation ratio was decreased(P<0.05);(2)the dressing percentage and breast muscle percentage were increased(P<0.05);(3)the total amino acid content,polyunsaturated fatty acids to monounsaturated fatty acids ratio were increased(P<0.05)in breast and thigh muscles;(4)activities of superoxide dismutase,catalase and glutathione peroxidase enzyme were increased(P<0.05)in thigh muscles;(5)the relative expressions of superoxide dismutase 1,glutathione peroxidase 1,and catalase were significantly increased(P<0.05)in the liver.In this study,the optimum dosage of 600 mg·kg^(-1) guanidinoacetic acid improved the growth performance,meat quality,antioxidant activity,and antioxidant-related gene expression in ducks.展开更多
Lewy body diseases(LBD),including Parkinson’s disease(PD)and dementia with Lewy bodies(DLB),are neurodegenerative disorders characterized by the intracellular aggregation and accumulation ofα-Synuclein(αSyn),leadin...Lewy body diseases(LBD),including Parkinson’s disease(PD)and dementia with Lewy bodies(DLB),are neurodegenerative disorders characterized by the intracellular aggregation and accumulation ofα-Synuclein(αSyn),leading to neuronal death.Although these diseases primarily present with symptoms affecting the central nervous system(CNS),such as motor and cognitive impairment,increasing research suggests that their roots may be found in the gut.This review summarizes recent findings and key historical insights into the involvement of the gut in αSyn pathology.The topics covered include pathological observations in patients with LBD,animal models investigating the propagation of αSyn from the gut to the brain,intestinal inflammation,alterations in the gut microbiome,and the molecular mechanisms of αSyn pathology within enteric neurons.These topics are essential for understanding the involvement of the gut in αSyn pathology and provide foundational insights that may lead to future therapeutic applications.展开更多
Litchi(Litchi chinensis Sonn.),an important fruit tree in tropical and subtropical regions,possesses substantial economic value.The branchand leaf-related traits of litchi have a significant impact on litchi yield and...Litchi(Litchi chinensis Sonn.),an important fruit tree in tropical and subtropical regions,possesses substantial economic value.The branchand leaf-related traits of litchi have a significant impact on litchi yield and quality.However,due to limitations such as the density of the genetic linkage map,there have been few studies on mapping QTLs of branch-and leaf-related traits.In this study,a high-density genetic map was constructed by next-generation sequencing(NGS)using an F_(1) population of 264 progenies,derived from the cross between the cultivars‘Sanyuehong'and‘Ziniangxi'.A total of 2574 high-quality BINs(binomial intervals)were obtained,and a genetic linkage map was constructed with a total length of 1753.3 cM and an average marker distance of 0.68 cM.With the genetic map and the phenotyping of single leaf length(SLL),single leaf width(SLW),leaf shape index(LSI),weight of specific leaf(WSL),petiole length(PL)and compound leaf length(CLL)measured in three seasons,11,9,9,10,9 and 12 QTLs were detected for SLL,SLW,WSL,LSI,PL and CLL traits,respectively.Among these QTLs,five QTLs were consistently detected in two seasons and 12 pleiotropic QTLs were identified for at least two traits.These findings will provide new insights for the gene cloning for branch-and leaf-related traits as well as marker-assisted selection(MAS).展开更多
Grapevine is unique among crops because its domestication resulted not only in new morphological characteristics,but also in altered reproductive mechanisms.Viticulture involves a change from a dioecious to a hermaphr...Grapevine is unique among crops because its domestication resulted not only in new morphological characteristics,but also in altered reproductive mechanisms.Viticulture involves a change from a dioecious to a hermaphroditic mating system,which makes the reproductive system more efficient.In consequence and the fact that it is one of the oldest and most economically important cultivated plants,Vitis vinifera could be defined as an over-domesticated species.Here we review some key aspects in viticulture.The main areas of interest have remained consistent throughout history,including the origin and characterisation of cultivars,resistance to environmental con-ditions,pests and pathogens,and berry quality.Advances in genomic analysis and epigenetics shed new light on these aspects.Although the vine has a long and complex life cycle,recent haplotype sequencing techniques allow genomic characteristics related to different reproduction processes to be identified.Recent work on haplotype sequencing reveals genomic changes accompanying each reproductive type,providing improved detail about the sex-determining region(SDR).Meanwhile,the application of epigenetic analysis offers new tools for defining varietal characteristics and their responses to changing environmental conditions.However,critical issues,such as differentiating between sylvestris and feral cultivars,remain unclear.Understanding the molecular basis of morphological differences and investigating the epigenetic regulation of gene expression and genome dynamics in response to breeding and environmental factors in this species will be crucial.Seed morphology could help to resolve how to differentiate between wild and feral plants.展开更多
Background Supplementation of choline chloride in culture medium programs the preimplantation bovine embryo to increase weaning weight of the resultant calf.Here,it was hypothesized that similar programming actions of...Background Supplementation of choline chloride in culture medium programs the preimplantation bovine embryo to increase weaning weight of the resultant calf.Here,it was hypothesized that similar programming actions of choline can be induced by feeding rumen-protected choline(RPC)to beef cows during the periconceptional period.Results A preliminary experiment was conducted to determine changes in circulating concentrations of choline and its metabolites after RPC supplementation.Suckled beef cows were individually fed 0,30,60,and 90 g of RPC(i.e.,0,8.6,17.3 and 25.9 g choline chloride)and blood samples were collected at random times after feeding.There were no differences in plasma concentrations of choline or its metabolites between groups.In the second experiment,effects of feeding 60 g/d RPC from d-1 to 7 relative to timed artificial insemination were examined for suckled beef cows.Feeding RPC did not affect pregnancy or calving rates,pregnancy losses,plasma concentrations of pregnancy-associated glycoproteins,gestation length or calf birth weight.Calves from RPC fed dams were lighter than control calves at~118 days of age(range 75–150;age included in the statistical model)and at weaning at~248 days of age.There was no effect of treatment on hip height at~118 days of age although there was a trend for RPC calves to be shorter at weaning.Weight/height ratio was lower for RPC than control at both 118 and 248 days of age.Treatment did not affect testis weight at~118 days of age.Conclusions Supplementation of RPC during the periconceptional period programmed development to alter calf phenotype in the postnatal period.The net result,reduced body weight,was the opposite of the phenotype caused by the addition of choline to embryo culture medium.展开更多
This study was conducted retrospectively on a cohort of 68 patients with steroid 5α-reductase 2(SRD5A2)deficiency and 46,XY disorders of sex development(DSD).Whole-exon sequencing revealed 28 variants of SRD5A2,and f...This study was conducted retrospectively on a cohort of 68 patients with steroid 5α-reductase 2(SRD5A2)deficiency and 46,XY disorders of sex development(DSD).Whole-exon sequencing revealed 28 variants of SRD5A2,and further analysis identified seven novel mutants.The preponderance of variants was observed in exon 1 and exon 4,specifically within the nicotinamide adenine dinucleotide phosphate(NADPH)-binding region.Among the entire cohort,53 patients underwent initial surgery at Sichuan Provincial People’s Hospital(Chengdu,China).The external genitalia scores(EGS)of these participants varied from 2.0 to 11.0,with a mean of 6.8(standard deviation[s.d.]:2.5).Thirty patients consented to hormone testing.Their average testosterone-todihydrotestosterone(T/DHT)ratio was 49.3(s.d.:23.4).Genetic testing identified four patients with EGS scores between 6 and 9 as having this syndrome;and their T/DHT ratios were below the diagnostic threshold.Furthermore,assessments conducted using the crystal structure of human SRD5A2 have provided insights into the potential pathogenic mechanisms of these novel variants.These mechanisms include interference with NADPH binding(c.356G>C,c.365A>G,c.492C>G,and c.662T>G)and destabilization of the protein structure(c.727C>T).The c.446-1G>T and c.380delG variants were verified to result in large alterations in the transcripts.Seven novel variations were identified,and the variant database for the SRD5A2 gene was expanded.These findings contribute to the progress of diagnostic and therapeutic approaches for individuals with SRD5A2 deficiency.展开更多
Isomorphic substitution of ferric ion(Fe~(3+))by aluminum ion(Al~(3+))in iron(hydro)oxides is ubiquitous in natural environments.Aluminum substitution inevitably leads to changes in the microstructures,physicochemical...Isomorphic substitution of ferric ion(Fe~(3+))by aluminum ion(Al~(3+))in iron(hydro)oxides is ubiquitous in natural environments.Aluminum substitution inevitably leads to changes in the microstructures,physicochemical properties,and surface reactions of iron(hydro)oxides,which may have great impacts on the sequestration of nutrients and contaminants in soils and aquatic environments.Over the past decades,the structural properties and surface reactivity of Al-substituted iron(hydro)oxides have been intensively studied.Iron(hydro)oxides in various structural forms and with different Al substitution amounts present high application potentials in addressing environmental issues.A timely summary of the structural properties and interfacial reactions of the most common and representative Al-substituted iron(hydro)oxides is of significance.Herein,the effects of Al substitution on the structural properties and surface activities of iron(hydro)oxides were clarified according to the microstructure,crystal facets,surface site type and density,interfacial reaction mechanisms,and modeling parameters of iron(hydro)oxides.This review systematically elucidates how Al substitution affects the structural properties and surface reactions of iron(hydro)oxides,including the well crystallized goethite and hematite and the poorly crystallized ferrihydrite,providing theoretical guidance for further exploration of the mineralogical characteristics and environmental geochemical behaviors of iron(hydro)oxides.展开更多
Background:Spinocerebellar ataxia type 2(SCA2)is a neurodegenerative disease marked by significant clinical and genetic heterogeneity,primarily caused by expanded CAG mutations in the ATXN2 gene.The unstable expansion...Background:Spinocerebellar ataxia type 2(SCA2)is a neurodegenerative disease marked by significant clinical and genetic heterogeneity,primarily caused by expanded CAG mutations in the ATXN2 gene.The unstable expansion of CAG repeats disrupts the genetic stability of animal models,which is detrimental to disease research.Methods:In this study,we established a mouse model in which CAG repeats do not undergo microsatellite instability(MSI)across generations.A humanized ATXN2 cDNA with four CAA interruptions within 73 CAG expansions was inserted into the Rosa26 locus of C57BL/6J mice.A 23 CAG control mouse model was also generated to verify ATXN2 integration and expression.Results:In our model,the number of CAG repeats remained stable during transmission,with no CAG repeat expansion observed in 64 parent-to-offspring transmissions.Compared with SCA2-Q23 mice,SCA2-Q73 mice exhibited progressive motor impairment,reduced Purkinje cell count and volume(indicative of cell atrophy),and muscle atrophy.These observations in the mice suggest that the behavioral and neuropathological phenotypes may reflect the features of SCA2 patients.RNA-seq analysis of the gastrocnemius muscle in SCA2-Q73 mice showed significant changes in muscle differentiation and development gene expression at 56 weeks,with no significant differences at 16 weeks compared to SCA2-Q23 mice.The expression level of the Myf6 gene significantly changed in the muscles of aged mice.Conclusion:In summary,the establishment of this model not only provides a stable animal model for studying CAG transmission in SCA2 but also indicates that the lack of long-term neural stimulation leads to muscle atrophy.展开更多
Base editors are essential tools for precise genome editing in plants.However,achieving high efficiency in C-to-G editing while minimizing byproduct and offtarget mutations remains challenging.In this study,we present...Base editors are essential tools for precise genome editing in plants.However,achieving high efficiency in C-to-G editing while minimizing byproduct and offtarget mutations remains challenging.In this study,we present the development and evaluation of a novel glycosylase-based cytosine base editor(gCBE)for efficient C-to-G editing in rice.Unlike traditional cytosine base editors,which rely on cytosine deamination,gCBE directly excises cytosine to generate an apurinic/apyrimidinic(AP)site,thus circumventing the deamination step and reducing the production of C-to-T byproducts.We constructed several gCBE variants,including N-gCBE,M-gCBE,and C-gCBE,by fusing engineered human UDG2(UNG*)to SpCas9 nickase(nSpCas9,D10A)and tested their editing efficiency and specificity in rice.Our results demonstrate that M-gCBE achieved efficient C-to-G editing(6.3%to 37.5%)similar to OsCGBE(9.4%to 28.1%)at most targets,though with site-dependent variations.Notably,gCBE tools showed a marked reduction in C-to-T byproducts,with average C-to-T mutation rates of 12.5%for N-gCBE and 16.7%for M-gCBE,compared to 53.1%for OsCGBE.Notably,both N-gCBE and M-gCBE were capable of generating homozygous C-to-G mutations in the T_(0)generation,a key advantage over OsCGBE,which predominantly generated C-to-T mutations.Off-target analysis revealed minimal off-target effects with M-gCBE,highlighting its potential for high-precision genome editing.These findings suggest that gCBE tools,particularly M-gCBE,are highly efficient and precise,providing an advanced solution for C-to-G editing in plants and offering promising applications for crop improvement.展开更多
Facial morphology,a complex trait influenced by genetics,holds great significance in evolutionary research.However,due to limited fossil evidence,the facial characteristics of Neanderthals and Denisovans have remained...Facial morphology,a complex trait influenced by genetics,holds great significance in evolutionary research.However,due to limited fossil evidence,the facial characteristics of Neanderthals and Denisovans have remained largely unknown.In this study,we conduct a large-scale multi-ethnic meta-analysis of the genome-wide association study(GWAS),including 9674 East Asians and 10,115 Europeans,quantitatively assessing 78 facial traits using 3D facial images.We identify 71 genomic loci associated with facial features,including 21 novel loci.We develop a facial polygenic score(FPS)that enables the prediction of facial features based on genetic information.Interestingly,the distribution of FPSs among populations from diverse continental groups exhibits relevant correlations with observed facial features.Furthermore,we apply the FPS to predict the facial traits of seven Neanderthals and one Denisovan using ancient DNA and align predictions with the fossil records.Our results suggest that Neanderthals and Denisovans likely share similar facial features,such as a wider but shorter nose and a wider endocanthion distance.The decreased mouth width is characterized specifically in Denisovans.The integration of genomic data and facial trait analysis provides valuable insights into the evolutionary history and adaptive changes in human facial morphology.展开更多
Mango(Mangifera indica L.cv.‘Keitt’)is one of the core fruit delicacies produced by China.During the post-harvest storage span,the fungal pathogen colletotrichum gloeosporioides readily invades the fruits and leads ...Mango(Mangifera indica L.cv.‘Keitt’)is one of the core fruit delicacies produced by China.During the post-harvest storage span,the fungal pathogen colletotrichum gloeosporioides readily invades the fruits and leads to a significant overall yield loss.In recent years of development,the exploitation of naturally occurring fungitoxic compounds such as Sandalwood Essential Oil(SEO)has been useful in tackling various fungal species.This study demonstrates the potential of SEO as part of a storage protection strategy against C.gloeosporioides-induced postharvest anthracnose.SEO displayed a relatively higher mycelial growth inhibition rate when compared to various other essential oils.Furthermore,the Minimal Inhibitory Concentration(MIC),Minimum Fungicidal Concentration(MFC),and EC_(50)(Half maximal effective concentration)of SEO were determined to be 2000,2500,and 610.38μL/L,respectively.Moreover,the chitosan glutamate-SEO emulsion controlled the anthracnose spread for several days by multiple folds at½MIC,MIC,and 2 MIC concentrations.These results strongly support the potential for largescale production and application of SEO emulsions by agrochemical firms and post-harvest storage facilities handling Keitt mangoes.展开更多
Coat color polymorphism in domestic animals provides a robust framework for elucidating mechanisms of species adaptation,domestication,and genomic diversity.Leiqiong cattle,a representative indicine breed from souther...Coat color polymorphism in domestic animals provides a robust framework for elucidating mechanisms of species adaptation,domestication,and genomic diversity.Leiqiong cattle,a representative indicine breed from southern China,are predominantly yellow-coated,although a subset exhibits a solid black phenotype.To determine the genetic basis of this variation,a genome-wide association study(GWAS)was performed in 212 Leiqiong bulls.A pronounced association signal was detected on chromosome 6 within the fifth intron of the CORIN gene,providing the first evidence of the potential influence of CORIN on bovine coat color variation.Integration of these results with publicly available genomic datasets and haplotype analyses indicated that the yellow coat phenotype is derived from Indian indicine ancestry,whereas the black coat phenotype emerged through introgression from wild bovine lineages and artificial hybridization with Wagyu cattle.Comparative analysis of Indian indicine cattle with divergent coat colors revealed distinct LEF1 haplotypes within a shared CORIN background,suggesting an ancient and complex domestication history underlying coat color variation.These findings provide direct evidence that introgression has shaped phenotypic variation in East Asian cattle and offer novel insights into the genetic architecture of pigmentation,with implications for future breeding strategies.展开更多
Background The bromodomain(BRD) proteins play a pivotal role in regulating gene expression by recognizing acetylated lysine residues and acting as chromatin-associated post-translational modification-inducing proteins...Background The bromodomain(BRD) proteins play a pivotal role in regulating gene expression by recognizing acetylated lysine residues and acting as chromatin-associated post-translational modification-inducing proteins. Although BRD proteins have been extensively studied in mammals, they have also been characterized in plants like Arabidopsis thaliana and Oryza sativa, where they regulate stress-responsive genes related to drought, salinity, and cold. However, their roles in cotton species remain unexplored.Results In this genome-wide comparative analysis, 145 BRD genes were identified in the tetraploid species(Gossypium hirsutum and G. barbadense), compared with 82 BRD genes in their diploid progenitors(G. arboreum and G. raimondii), indicating that polyploidization significantly influenced BRD gene evolution. Gene duplication analysis revealed 78.85% of duplications were segmental and 21.15% were tandem among 104 in-paralogous gene pairs, contributing to BRD gene expansion. Gene structure, motif, and domain analyses demonstrated that most genes were intron-less and conserved throughout evolution. Syntenic analysis revealed a greater number of orthologous gene pairs in the Dt sub-genome than in the At sub-genome. The abundance of regulatory, hormonal, and defense-related cis-regulatory elements in the promoter region suggests that BRD genes play a role in both biotic and abiotic stress responses. Protein-protein interaction analysis indicated that global transcription factor group E(GTE) transcription factors regulate BRD genes. Expression analysis revealed that BRD genes are predominantly involved in ovule development, with some genes displaying specific expression patterns under heat, cold, and salt stress. Furthermore, qRT-PCR analysis demonstrated significant differential expression of BRD genes between the tolerant and sensitive genotype, underscoring their potential role in mediating drought and salinity stress responses.Conclusions This study provides valuable insights into the evolution of BRD genes across species and their roles in abiotic stress tolerance, highlighting their potential in breeding programs to develop drought and salinity tolerant cotton varieties.展开更多
文摘Uveal melanoma(UM)is the most common intraocular cancer,with approximately 5.2 individuals per million affected annually in the United States.It represents approximately 3%of the global malignant melanoma cases,accounting for 80%of the overall noncutaneous melanomas.Clinically,it remains silent in about 30%of the cases;when symptomatic,it generally causes metamorphopsia(painless loss or distortion of vision)and/or photopsia(flashing or flickering of light in the visual field).Discoloration of the iris,astigmatism,glaucoma,and even blindness are other,less common clinical manifestations.Several pathophysiological mechanisms underlie the development of UM.Genetic mutations,involving especially the G protein subunit alpha q(GNAQ),guanine nucleotide-binding protein subunit alpha-11(GNA11),BRCA1 associated deubiquitinase 1(BAP1),splicing factor 3b subunit 1(SF3B1),and eukaryotic translation initiation factor 1A,X-linked(EIF1AX)genes as well as the MAPK/ERK signaling pathway genes,have been largely associated with the development of UM.Chromosomal aberrations,inflammatory and immunological alterations are often concurrent factors for the development and progression of UM.Therapies targeting specific genetic alterations and immunotherapy agents have been recently developed and introduced in clinical practice for the management of advanced-stage UMs.This review aims to present the latest advances in the clinical molecular pathology of UM,along with the resulting targeted,immunological,and other therapies that have been introduced or are currently under investigation.
文摘The history of medical genetics is briefly reviewed. It is evident that medical genetics with its inseparable part, clinical genetics, started out as a cfinical science from the very beginning. Its robust development in the developed countries is the result of a close interaction between the basic sciences and clinical genetics. In China, however, clinical genetics has not received due emphasis and medical genetics is still not recognized as one of the medical specialties. This is in marked contrast to the situation in the West. It is high time to acknowledge that medical genetics is a medical specialty and to promote clinical genetics service in qualified hospitals in our country.
基金Supported by Special Project for Reform of Non-profit Scientific Research Institution"Study on Whole Process Management of Agricultural Scientific and Technological Projects"
文摘This paper collected and arranged competitive scientific research projects undertaken by Tropical Crops Genetic Resources Institute of Chinese Academy of Tropical Agricultural Sciences in 2003-2014. Through statistical analysis on quantity of projects,funded amount,age of person responsible,professional title of person responsible,academic degree of person responsible,research object,it discussed relevant characteristics and rules. Finally,it came up with pertinent measures and recommendations,in the hope of providing services for decision-making and scientific and technological management.
基金Supported by Fund on Basic Scientific Research Project of Nonprofit Central Research Institutions(1630032014023)
文摘Taking Tropical Crops Genetic Resources Institute( TCGRI) of Chinese Academy of Tropical Agricultural Sciences( CATAS) as an example,this paper discussed current situation of construction of sci-tech platform,analyzed existing problems,and finally came up with pertinent recommendations.
基金This work was supported by the National Natural Science Fund for Excellent Young Scientists Fund Program(Overseas)to Y.Z.,the National Key Research and Development Program of China(grant 2019YFA0906200)the Agricultural Science and Technology Innovation Program(CAAS-ZDRW202101)+1 种基金the Shenzhen Science and Technology Program(grant KQTD2016113010482651)the BMBF-funded de.
文摘Grapevine is one of the most economically important crops worldwide.However,the previous versions of the grapevine reference genome tipically consist of thousands of fragments with missing centromeres and telomeres,limiting the accessibility of the repetitive sequences,the centromeric and telomeric regions,and the study of inheritance of important agronomic traits in these regions.Here,we assembled a telomere-to-telomere(T2T)gap-free reference genome for the cultivar PN40024 using PacBio HiFi long reads.The T2T reference genome(PN_T2T)is 69 Mb longer with 9018 more genes identified than the 12X.v0 version.We annotated 67%repetitive sequences,19 centromeres and 36 telomeres,and incorporated gene annotations of previous versions into the PN_T2T assembly.We detected a total of 377 gene clusters,which showed associations with complex traits,such as aroma and disease resistance.Even though PN40024 derives from nine generations of selfing,we still found nine genomic hotspots of heterozygous sites associated with biological processes,such as the oxidation–reduction process and protein phosphorylation.The fully annotated complete reference genome therefore constitutes an important resource for grapevine genetic studies and breeding programs.
基金financially supported by the National Natural Science Foundation of China(Grant Nos.31830071,32202561)the earmarked fund for CARS(Grant No.CARS-31)。
文摘Banana fruit ripening is a highly regulatory process involving various layers consisting of transcriptional regulation,epigenetic factor,and post-translational modification.Previously,we reported that MaERF11 cooperated with MaHDA1 to precisely regulate the transcription of ripening-associated genes via histone deacetylation.However,whether MaERF11 is subjected to post-translational modification during banana ripening is largely unknown.In this study,we found that MaERF11 targeted a subset of starch degradation-related genes using the DNA affinity purification sequence(DAP-Seq)approach.Electrophoretic mobility shift assay(EMSA)and dual-luciferase reporter assay(DLR)demonstrated that MaERF11 could specifically bind and repress the expression of the starch degradation-related genes MaAMY3,MaBAM2 and MaGWD1.Further analyses of yeast two-hybrid(Y2H),bimolecular fluorescence complementation(BiFC)and Luciferase complementation imaging(LCI)assays indicated that MaERF11 interacted with the ubiquitin E3 ligase MaRFA1,and this interaction weakened the MaERF11-mediated transcriptional repression capacity.Collectively,our results suggest an additional regulatory layer in which MaERF11 regulates banana fruit ripening and expands the regulatory network in fruit ripening at the post-translational modification level.
基金Supported by Hainan Provincial Natural Science Foundation of China(322MS134)。
文摘This study aimed to investigate the effects of dietary guanidinoacetic acid on growth performance,meat quality,antioxidant activity,and antioxidant-related gene expression in ducks.Total 48042-day-old female ducks were randomly divided into four groups with six replicates and 20 ducks per replicate and fed the basal diet to the control group.The experimental groups were fed the basal diet with 400,600 and 800 mg·kg^(-1) guanidinoacetic acid,respectively.The trial lasted 48 days.Compared with the control group,(1)the body weight at 90 days and average daily gain were increased(P<0.05),the feed conservation ratio was decreased(P<0.05);(2)the dressing percentage and breast muscle percentage were increased(P<0.05);(3)the total amino acid content,polyunsaturated fatty acids to monounsaturated fatty acids ratio were increased(P<0.05)in breast and thigh muscles;(4)activities of superoxide dismutase,catalase and glutathione peroxidase enzyme were increased(P<0.05)in thigh muscles;(5)the relative expressions of superoxide dismutase 1,glutathione peroxidase 1,and catalase were significantly increased(P<0.05)in the liver.In this study,the optimum dosage of 600 mg·kg^(-1) guanidinoacetic acid improved the growth performance,meat quality,antioxidant activity,and antioxidant-related gene expression in ducks.
基金supported by Japan Society for the Promotion of Science(JSPS)KAKENHI Grant Number JP24KJ0359.
文摘Lewy body diseases(LBD),including Parkinson’s disease(PD)and dementia with Lewy bodies(DLB),are neurodegenerative disorders characterized by the intracellular aggregation and accumulation ofα-Synuclein(αSyn),leading to neuronal death.Although these diseases primarily present with symptoms affecting the central nervous system(CNS),such as motor and cognitive impairment,increasing research suggests that their roots may be found in the gut.This review summarizes recent findings and key historical insights into the involvement of the gut in αSyn pathology.The topics covered include pathological observations in patients with LBD,animal models investigating the propagation of αSyn from the gut to the brain,intestinal inflammation,alterations in the gut microbiome,and the molecular mechanisms of αSyn pathology within enteric neurons.These topics are essential for understanding the involvement of the gut in αSyn pathology and provide foundational insights that may lead to future therapeutic applications.
基金supported by the Science and Technology Special Fund of Hainan Province(Grant Nos.ZDYF2021XDNY159 and ZDYF2021XDNY156)the Central Public-interest Scientific Institution Basal Research Fund for Chinese Academy of Tropical Agricultural Science(Grant No.1630032022007)China Agricultural Research System of MOF and MARA(Grant No.CARS-32-01)。
文摘Litchi(Litchi chinensis Sonn.),an important fruit tree in tropical and subtropical regions,possesses substantial economic value.The branchand leaf-related traits of litchi have a significant impact on litchi yield and quality.However,due to limitations such as the density of the genetic linkage map,there have been few studies on mapping QTLs of branch-and leaf-related traits.In this study,a high-density genetic map was constructed by next-generation sequencing(NGS)using an F_(1) population of 264 progenies,derived from the cross between the cultivars‘Sanyuehong'and‘Ziniangxi'.A total of 2574 high-quality BINs(binomial intervals)were obtained,and a genetic linkage map was constructed with a total length of 1753.3 cM and an average marker distance of 0.68 cM.With the genetic map and the phenotyping of single leaf length(SLL),single leaf width(SLW),leaf shape index(LSI),weight of specific leaf(WSL),petiole length(PL)and compound leaf length(CLL)measured in three seasons,11,9,9,10,9 and 12 QTLs were detected for SLL,SLW,WSL,LSI,PL and CLL traits,respectively.Among these QTLs,five QTLs were consistently detected in two seasons and 12 pleiotropic QTLs were identified for at least two traits.These findings will provide new insights for the gene cloning for branch-and leaf-related traits as well as marker-assisted selection(MAS).
文摘Grapevine is unique among crops because its domestication resulted not only in new morphological characteristics,but also in altered reproductive mechanisms.Viticulture involves a change from a dioecious to a hermaphroditic mating system,which makes the reproductive system more efficient.In consequence and the fact that it is one of the oldest and most economically important cultivated plants,Vitis vinifera could be defined as an over-domesticated species.Here we review some key aspects in viticulture.The main areas of interest have remained consistent throughout history,including the origin and characterisation of cultivars,resistance to environmental con-ditions,pests and pathogens,and berry quality.Advances in genomic analysis and epigenetics shed new light on these aspects.Although the vine has a long and complex life cycle,recent haplotype sequencing techniques allow genomic characteristics related to different reproduction processes to be identified.Recent work on haplotype sequencing reveals genomic changes accompanying each reproductive type,providing improved detail about the sex-determining region(SDR).Meanwhile,the application of epigenetic analysis offers new tools for defining varietal characteristics and their responses to changing environmental conditions.However,critical issues,such as differentiating between sylvestris and feral cultivars,remain unclear.Understanding the molecular basis of morphological differences and investigating the epigenetic regulation of gene expression and genome dynamics in response to breeding and environmental factors in this species will be crucial.Seed morphology could help to resolve how to differentiate between wild and feral plants.
基金supported by the L.E.“Red”Larson Endowment and grants number 2020-67015-30821 and 2023-67015-40730 from the Agriculture and Food Research Initiative of USDA-NIFAsupported by the Higher Education Commission of Pakistan。
文摘Background Supplementation of choline chloride in culture medium programs the preimplantation bovine embryo to increase weaning weight of the resultant calf.Here,it was hypothesized that similar programming actions of choline can be induced by feeding rumen-protected choline(RPC)to beef cows during the periconceptional period.Results A preliminary experiment was conducted to determine changes in circulating concentrations of choline and its metabolites after RPC supplementation.Suckled beef cows were individually fed 0,30,60,and 90 g of RPC(i.e.,0,8.6,17.3 and 25.9 g choline chloride)and blood samples were collected at random times after feeding.There were no differences in plasma concentrations of choline or its metabolites between groups.In the second experiment,effects of feeding 60 g/d RPC from d-1 to 7 relative to timed artificial insemination were examined for suckled beef cows.Feeding RPC did not affect pregnancy or calving rates,pregnancy losses,plasma concentrations of pregnancy-associated glycoproteins,gestation length or calf birth weight.Calves from RPC fed dams were lighter than control calves at~118 days of age(range 75–150;age included in the statistical model)and at weaning at~248 days of age.There was no effect of treatment on hip height at~118 days of age although there was a trend for RPC calves to be shorter at weaning.Weight/height ratio was lower for RPC than control at both 118 and 248 days of age.Treatment did not affect testis weight at~118 days of age.Conclusions Supplementation of RPC during the periconceptional period programmed development to alter calf phenotype in the postnatal period.The net result,reduced body weight,was the opposite of the phenotype caused by the addition of choline to embryo culture medium.
基金supported by the Sichuan Science and Technology Program(No.2022JDZH0029 to JYY)the Special Fund for Clinical Research and Translational Medicine from Chinese Academy of Medical Sciences(No.2022-I2M-C&T-B-117 to JYY)the Sichuan Key Research and Development Project from the Department of Science and Technology of Sichuan Province(No.2022YFS0237 to YMT).
文摘This study was conducted retrospectively on a cohort of 68 patients with steroid 5α-reductase 2(SRD5A2)deficiency and 46,XY disorders of sex development(DSD).Whole-exon sequencing revealed 28 variants of SRD5A2,and further analysis identified seven novel mutants.The preponderance of variants was observed in exon 1 and exon 4,specifically within the nicotinamide adenine dinucleotide phosphate(NADPH)-binding region.Among the entire cohort,53 patients underwent initial surgery at Sichuan Provincial People’s Hospital(Chengdu,China).The external genitalia scores(EGS)of these participants varied from 2.0 to 11.0,with a mean of 6.8(standard deviation[s.d.]:2.5).Thirty patients consented to hormone testing.Their average testosterone-todihydrotestosterone(T/DHT)ratio was 49.3(s.d.:23.4).Genetic testing identified four patients with EGS scores between 6 and 9 as having this syndrome;and their T/DHT ratios were below the diagnostic threshold.Furthermore,assessments conducted using the crystal structure of human SRD5A2 have provided insights into the potential pathogenic mechanisms of these novel variants.These mechanisms include interference with NADPH binding(c.356G>C,c.365A>G,c.492C>G,and c.662T>G)and destabilization of the protein structure(c.727C>T).The c.446-1G>T and c.380delG variants were verified to result in large alterations in the transcripts.Seven novel variations were identified,and the variant database for the SRD5A2 gene was expanded.These findings contribute to the progress of diagnostic and therapeutic approaches for individuals with SRD5A2 deficiency.
基金financially supported by the National Natural Science Foundation of China(Nos.42207352,42007020,and 42007015)the Natural Science Fund for Excellent Young Scholars of Hainan Province,China(No.324YXQN421)。
文摘Isomorphic substitution of ferric ion(Fe~(3+))by aluminum ion(Al~(3+))in iron(hydro)oxides is ubiquitous in natural environments.Aluminum substitution inevitably leads to changes in the microstructures,physicochemical properties,and surface reactions of iron(hydro)oxides,which may have great impacts on the sequestration of nutrients and contaminants in soils and aquatic environments.Over the past decades,the structural properties and surface reactivity of Al-substituted iron(hydro)oxides have been intensively studied.Iron(hydro)oxides in various structural forms and with different Al substitution amounts present high application potentials in addressing environmental issues.A timely summary of the structural properties and interfacial reactions of the most common and representative Al-substituted iron(hydro)oxides is of significance.Herein,the effects of Al substitution on the structural properties and surface activities of iron(hydro)oxides were clarified according to the microstructure,crystal facets,surface site type and density,interfacial reaction mechanisms,and modeling parameters of iron(hydro)oxides.This review systematically elucidates how Al substitution affects the structural properties and surface reactions of iron(hydro)oxides,including the well crystallized goethite and hematite and the poorly crystallized ferrihydrite,providing theoretical guidance for further exploration of the mineralogical characteristics and environmental geochemical behaviors of iron(hydro)oxides.
基金CAMS Innovation Fund for Medical Sciences,Grant/Award Number:CIFMS,2021-I2M-1-024The Joint Fund for the Department of Science and Technology of Yunnan Province-Kunming Medical University,Grant/Award Number:202201AY070001-007+1 种基金Open Research Fund Project of Yunnan Provincial Key Laboratory of Pharmacology of Natural Medicines,Grant/Award Number:YKLPNP-G2403The Science and Technology Leading Talent Program of Yunnan Province,Grant/Award Number:202405AB350002。
文摘Background:Spinocerebellar ataxia type 2(SCA2)is a neurodegenerative disease marked by significant clinical and genetic heterogeneity,primarily caused by expanded CAG mutations in the ATXN2 gene.The unstable expansion of CAG repeats disrupts the genetic stability of animal models,which is detrimental to disease research.Methods:In this study,we established a mouse model in which CAG repeats do not undergo microsatellite instability(MSI)across generations.A humanized ATXN2 cDNA with four CAA interruptions within 73 CAG expansions was inserted into the Rosa26 locus of C57BL/6J mice.A 23 CAG control mouse model was also generated to verify ATXN2 integration and expression.Results:In our model,the number of CAG repeats remained stable during transmission,with no CAG repeat expansion observed in 64 parent-to-offspring transmissions.Compared with SCA2-Q23 mice,SCA2-Q73 mice exhibited progressive motor impairment,reduced Purkinje cell count and volume(indicative of cell atrophy),and muscle atrophy.These observations in the mice suggest that the behavioral and neuropathological phenotypes may reflect the features of SCA2 patients.RNA-seq analysis of the gastrocnemius muscle in SCA2-Q73 mice showed significant changes in muscle differentiation and development gene expression at 56 weeks,with no significant differences at 16 weeks compared to SCA2-Q23 mice.The expression level of the Myf6 gene significantly changed in the muscles of aged mice.Conclusion:In summary,the establishment of this model not only provides a stable animal model for studying CAG transmission in SCA2 but also indicates that the lack of long-term neural stimulation leads to muscle atrophy.
基金supported by the National Natural Science Foundation of China(82404798)the Natural Science Foundation of Sichuan Province(2024NSFSC1831)+1 种基金the National Key Laboratory for Tropical Crop Breeding(NKLTCB-RC202403,NKLTCBZRJJ4)the Hainan Seed Industrial Laboratory(B22C1000P).
文摘Base editors are essential tools for precise genome editing in plants.However,achieving high efficiency in C-to-G editing while minimizing byproduct and offtarget mutations remains challenging.In this study,we present the development and evaluation of a novel glycosylase-based cytosine base editor(gCBE)for efficient C-to-G editing in rice.Unlike traditional cytosine base editors,which rely on cytosine deamination,gCBE directly excises cytosine to generate an apurinic/apyrimidinic(AP)site,thus circumventing the deamination step and reducing the production of C-to-T byproducts.We constructed several gCBE variants,including N-gCBE,M-gCBE,and C-gCBE,by fusing engineered human UDG2(UNG*)to SpCas9 nickase(nSpCas9,D10A)and tested their editing efficiency and specificity in rice.Our results demonstrate that M-gCBE achieved efficient C-to-G editing(6.3%to 37.5%)similar to OsCGBE(9.4%to 28.1%)at most targets,though with site-dependent variations.Notably,gCBE tools showed a marked reduction in C-to-T byproducts,with average C-to-T mutation rates of 12.5%for N-gCBE and 16.7%for M-gCBE,compared to 53.1%for OsCGBE.Notably,both N-gCBE and M-gCBE were capable of generating homozygous C-to-G mutations in the T_(0)generation,a key advantage over OsCGBE,which predominantly generated C-to-T mutations.Off-target analysis revealed minimal off-target effects with M-gCBE,highlighting its potential for high-precision genome editing.These findings suggest that gCBE tools,particularly M-gCBE,are highly efficient and precise,providing an advanced solution for C-to-G editing in plants and offering promising applications for crop improvement.
基金funded by the following grants and contracts:Strategic Priority Research Program of the Chinese Academy of Sciences(XDB38020400 to S.W.)the National Natural Science Foundation of China(32325013 to S.W.,32271186 to J.T.,31900408 to M.Z.)+5 种基金the CAS Project for Young Scientists in Basic Research(YSBR-077 to S.W.)Shanghai Science and Technology Commission Excellent Academic Leaders Program(22XD1424700 to S.W.)CAMS Innovation Fund for Medical Sciences(2019-I2M-5-066 to L.J.and J.W.)Shanghai Municipal Science and Technology Major Project(2017SHZDZX01 to L.J.and S.W.)the National Science and Technology Basic Research Project(2015FY111700 to L.J.)the 111 Project(B13016 to L.J.).
文摘Facial morphology,a complex trait influenced by genetics,holds great significance in evolutionary research.However,due to limited fossil evidence,the facial characteristics of Neanderthals and Denisovans have remained largely unknown.In this study,we conduct a large-scale multi-ethnic meta-analysis of the genome-wide association study(GWAS),including 9674 East Asians and 10,115 Europeans,quantitatively assessing 78 facial traits using 3D facial images.We identify 71 genomic loci associated with facial features,including 21 novel loci.We develop a facial polygenic score(FPS)that enables the prediction of facial features based on genetic information.Interestingly,the distribution of FPSs among populations from diverse continental groups exhibits relevant correlations with observed facial features.Furthermore,we apply the FPS to predict the facial traits of seven Neanderthals and one Denisovan using ancient DNA and align predictions with the fossil records.Our results suggest that Neanderthals and Denisovans likely share similar facial features,such as a wider but shorter nose and a wider endocanthion distance.The decreased mouth width is characterized specifically in Denisovans.The integration of genomic data and facial trait analysis provides valuable insights into the evolutionary history and adaptive changes in human facial morphology.
基金funded by the Hainan Province Science and Technology Special Fund[grant number ZDKJ2021012]the National Key R&D Programof China[grant number 2023YFD2300801]received by Fei Qiaothe Ongoing Research Funding Program(ORF-2025-751),King Saud University,Riyadh,Saud Arabia.
文摘Mango(Mangifera indica L.cv.‘Keitt’)is one of the core fruit delicacies produced by China.During the post-harvest storage span,the fungal pathogen colletotrichum gloeosporioides readily invades the fruits and leads to a significant overall yield loss.In recent years of development,the exploitation of naturally occurring fungitoxic compounds such as Sandalwood Essential Oil(SEO)has been useful in tackling various fungal species.This study demonstrates the potential of SEO as part of a storage protection strategy against C.gloeosporioides-induced postharvest anthracnose.SEO displayed a relatively higher mycelial growth inhibition rate when compared to various other essential oils.Furthermore,the Minimal Inhibitory Concentration(MIC),Minimum Fungicidal Concentration(MFC),and EC_(50)(Half maximal effective concentration)of SEO were determined to be 2000,2500,and 610.38μL/L,respectively.Moreover,the chitosan glutamate-SEO emulsion controlled the anthracnose spread for several days by multiple folds at½MIC,MIC,and 2 MIC concentrations.These results strongly support the potential for largescale production and application of SEO emulsions by agrochemical firms and post-harvest storage facilities handling Keitt mangoes.
基金supported by the National Key R&D Program of China(2022YFF1000100)Shaanxi Innovation Team Project(2022TD-10)+1 种基金Shaanxi Livestock and Poultry Breeding Double-chain Fusion Key Project(2022GD-TSLD-46-0401)Postdoctoral Research Funding of Hainan Province。
文摘Coat color polymorphism in domestic animals provides a robust framework for elucidating mechanisms of species adaptation,domestication,and genomic diversity.Leiqiong cattle,a representative indicine breed from southern China,are predominantly yellow-coated,although a subset exhibits a solid black phenotype.To determine the genetic basis of this variation,a genome-wide association study(GWAS)was performed in 212 Leiqiong bulls.A pronounced association signal was detected on chromosome 6 within the fifth intron of the CORIN gene,providing the first evidence of the potential influence of CORIN on bovine coat color variation.Integration of these results with publicly available genomic datasets and haplotype analyses indicated that the yellow coat phenotype is derived from Indian indicine ancestry,whereas the black coat phenotype emerged through introgression from wild bovine lineages and artificial hybridization with Wagyu cattle.Comparative analysis of Indian indicine cattle with divergent coat colors revealed distinct LEF1 haplotypes within a shared CORIN background,suggesting an ancient and complex domestication history underlying coat color variation.These findings provide direct evidence that introgression has shaped phenotypic variation in East Asian cattle and offer novel insights into the genetic architecture of pigmentation,with implications for future breeding strategies.
文摘Background The bromodomain(BRD) proteins play a pivotal role in regulating gene expression by recognizing acetylated lysine residues and acting as chromatin-associated post-translational modification-inducing proteins. Although BRD proteins have been extensively studied in mammals, they have also been characterized in plants like Arabidopsis thaliana and Oryza sativa, where they regulate stress-responsive genes related to drought, salinity, and cold. However, their roles in cotton species remain unexplored.Results In this genome-wide comparative analysis, 145 BRD genes were identified in the tetraploid species(Gossypium hirsutum and G. barbadense), compared with 82 BRD genes in their diploid progenitors(G. arboreum and G. raimondii), indicating that polyploidization significantly influenced BRD gene evolution. Gene duplication analysis revealed 78.85% of duplications were segmental and 21.15% were tandem among 104 in-paralogous gene pairs, contributing to BRD gene expansion. Gene structure, motif, and domain analyses demonstrated that most genes were intron-less and conserved throughout evolution. Syntenic analysis revealed a greater number of orthologous gene pairs in the Dt sub-genome than in the At sub-genome. The abundance of regulatory, hormonal, and defense-related cis-regulatory elements in the promoter region suggests that BRD genes play a role in both biotic and abiotic stress responses. Protein-protein interaction analysis indicated that global transcription factor group E(GTE) transcription factors regulate BRD genes. Expression analysis revealed that BRD genes are predominantly involved in ovule development, with some genes displaying specific expression patterns under heat, cold, and salt stress. Furthermore, qRT-PCR analysis demonstrated significant differential expression of BRD genes between the tolerant and sensitive genotype, underscoring their potential role in mediating drought and salinity stress responses.Conclusions This study provides valuable insights into the evolution of BRD genes across species and their roles in abiotic stress tolerance, highlighting their potential in breeding programs to develop drought and salinity tolerant cotton varieties.
