Search Results (8,192)

The fig tree (Ficus carica L.) is one of the oldest cultivated fruit trees in the Mediterranean region and represents an important genetic resource for both traditional and emerging production systems. Despite its agronomic and economic relevance, modern fig breeding remains limited, and large-scale phenotypic evaluations across Mediterranean germplasms are still scarce. The objective of this study was to assess phenotypic diversity and identify key agronomic traits relevant for fig breeding. A total of 257 female fig genotypes conserved in germplasm banks located in Spain, Turkey, and Tunisia were used. Over two consecutive seasons (2021 and 2022), a total of 27 morphological, phenological, and pomological traits were assessed according to the International Union for the Protection of New Varieties of Plants (UPOV) descriptors for fig (TG265/1), with 23 phenotypic traits retained for statistical analyses. Linear mixed models were used to estimate marginal means and to partition genetic and environmental variance, while multivariate analyses and trait correlations were employed to explore the structure of phenotypic diversity. The germplasm exhibits remarkable variation in productive type, reproductive behaviour, harvesting date, and fruit quality traits. Harvesting date spans nearly three months. Fruit weight ranges from 11.7 to 134.5 g, total soluble solids from 9 to 39 °Brix, and maturation index values reached high levels, indicating pronounced sweetness during fruit ripening. Most genotypes showed high skin scratch resistance, absence of cracking at maturity, and medium or small ostiole size, highlighting the presence of ideotypes specifically suited for fresh market production. Heritability estimates indicate strong genetic control of key traits, such as fruit weight, fruit size, and total soluble solids, highlighting their suitability for selection in breeding programs. Stakeholder prioritisation further confirmed the relevance of fruit size, sweetness, firmness, and ostiole characteristics, helping to identify best genotypes for breeding and agronomic purposes. Overall, this study demonstrates the value of Mediterranean fig germplasm as a reservoir of valuable agronomic and commercial traits and provides a robust phenotypic framework to support future breeding, conservation, and cultivar selection strategies. Full article

Background: Familial hemiplegic migraine (FHM) is a rare and severe form of migraine disorder featuring aura symptoms that include hemiplegia during attacks. While pathogenic missense variants in CACNA1A, ATP1A2, and SCN1A can cause FHM or its sporadic form, they explain less than 20% of suspected hemiplegic migraine cases, suggesting the involvement of other genes or genetic variations, potentially including copy number variations (CNVs). PPRT2 gene variants including CNVs have also been implicated in hemiplegic migraine. Methods: Multiplex ligation-dependent probe amplification (MLPA) assays were used to investigate the presence of CNVs in the CACNA1A, SCN1A, ATP1A2, and PRRT2 genes in a cohort of 170 unrelated probands suspected to have FHM who had tested negative for pathogenic missense or small indel variants within these genes. Potential CNVs were subsequently confirmed using quantitative PCR. Results: In 15 patients referred for FHM genetic testing, various CNVs in the target genes were detected by MLPA and subsequently validated by quantitative PCR. CACNA1A exon duplications were identified in six patients and deletions found in two. Two patients had ATP1A2 exon deletions, while one had a duplication. For SCN1A, exon deletions were found in three patients and a duplication in one. PRRT2 exon deletions were detected in five patients, with a single nucleotide polymorphism (SNP) array confirming a deletion spanning PRRT2 and neighbouring loci including 26 genes in one of those. Three patients had CNVs in more than one FHM gene. Conclusions: Our study demonstrates the presence of CNVs in FHM genes in a subset of hemiplegic migraine cases (~9%), suggesting a likely role in the disorder and highlighting the need to explore structural variation in addition to the commonly interrogated genetic mutation points. These findings contribute to further understanding of genetic mechanisms that underlie hemiplegic migraine and may inform improved diagnostic and therapeutic strategies. Full article

Gluten allergy is linked to high risk of anaphylaxis. The relative allergenicity of glutens (alcohol-soluble gliadin and acid-soluble glutenin) from the three commercially grown wheat species (diploid Triticum monococcum, tetraploid Triticum durum, hexaploid Triticum aestivum) is unknown. A comparative gluten allergenicity map (CGAM) from these species will enable the identification of potentially hyper-/hypo-/iso-allergenic species/varieties of wheat as well as the determination of substantial equivalence of genetically engineered (GE) or other novel wheat lines. Here, using a recently described novel mouse model, we tested the hypothesis that the three different wheat species will exhibit natural variation in their gluten allergenicity. Groups of Balb/c mice were transdermally sensitized to alcohol-soluble or acid-soluble gluten extracts followed by elicitation of systemic anaphylaxis. Initial studies were performed to validate the model for glutens from the three wheat species. Both glutens from all three wheat species elicited robust specific IgE responses, as well as systemic anaphylaxis. However, comparative mapping analysis revealed differences in capacity to elicit specific IgE among the three wheat species with T. aestivum being the most potent in both gluten extracts. Hypothermic shock response analysis revealed that the three species elicited similar kinetics and intensity of anaphylaxis. Nevertheless, when analyzing mucosal mast cell response, it was revealed that the glutens from T. aestivum emerged as the most potent elicitor. Collectively, these results yield the first CGAM that may be utilized for preclinical testing of the allergenic potential of glutens from novel (e.g., GE) wheats and processed wheat products against existing wheat glutens. Full article

Avian reovirus (ARV) causes viral arthritis and leads to considerable economic losses in the poultry industry. In this study, six ARV strains of distinct genotypes (FJNP01–FJNP06) were isolated from commercial broiler farms. Through gene sequencing and pathogenicity assessment, we analyzed the genetic evolution and pathogenic characteristics of the σC, P10, σB, μB, and λC genes. Pathogenicity tests revealed that inoculation with FJNP01–FJNP06 by footpad or oral gavage induced symptoms in specific-pathogen-free (SPF) chickens, including mortality and growth retardation. Among the isolates, FJNP04 (genotype IV) showed the highest pathogenicity, causing increased mortality, weight loss, and severe lesions in the footpads and bursa of Fabricius, followed by FJNP05 and FJNP02. The pathogenicity of FJNP06 varied by inoculation route, with enhanced pathogenicity observed following oral gavage. In contrast, FJNP01 and FJNP03 demonstrated relatively low pathogenicity. Identity analysis indicated that σC and P10 were highly variable, σB was relatively conserved, while μB and λC displayed considerable divergence. Phylogenetic analysis placed FJNP01–FJNP06 into genotypes I to Ⅵ, respectively, forming six distinct branches on the σC and P10 phylogenetic trees, yet clustering more closely on the σB, μB, and λC trees. The pathogenicity of different genotypes of ARV varies, among which FJNP04 (genotype IV) exhibits the strongest pathogenicity. Genetic sequence analysis revealed that σC and P10 are highly variable, σB is relatively conserved, while μB and λC display a wide range of variation. This study provides insights into the genetic variation and pathogenic characteristics of ARV and serves as a reference for future research. Full article

Age-related macular degeneration (AMD) is a complex retinal disease influenced by genetic and metabolic factors. Genetic variants impact disease susceptibility, while alterations in amino acid and purine metabolism are involved in AMD development. This study aimed to examine the association between the COL2A1 rs1635529 polymorphism and AMD, as well as its relation to specific metabolites. The study comprised 919 participants: 261 with early AMD, 229 with exudative AMD, and 429 controls. DNA was extracted using the salting-out method, and genotyping was performed using real-time PCR. Metabolite levels were analysed with liquid chromatography–mass spectrometry. Statistical analysis was conducted using IBM SPSS Statistics 27.0. Logistic regression revealed that carriers of the GT + TT genotypes had a 1.63-fold higher risk of early AMD (p = 0.046). The T allele was also linked to a 1.67-fold elevated risk (p = 0.033). No significant associations were observed in exudative AMD. Furthermore, lower leucine levels were noted in exudative AMD patients, and inosine levels were reduced in GT genotype carriers within the early AMD group. The COL2A1 rs1635529 polymorphism showed a nominal association with early AMD, but not exudative AMD. Differences in leucine and inosine levels were observed, suggesting a potential link between genetic variation and metabolic alterations. These findings indicate possible involvement of collagen-related and metabolic pathways in early disease development; however, the results should be interpreted with caution and require validation in larger studies. Full article

The objectives of this paper were to assess the genetic diversity, population structure, genetic differentiation, and phylogenetic relationships among seven duck populations using 14 microsatellite (MS) markers. This paper included 176 individuals representing seven duck populations of Bangladesh: indigenous duck (BLD), Nageswari (NAG), Rupali (RUP), Jinding (JIN), Pekin (PEK), BAU Black and White (BWC), and BAU White (WHC). A total of 133 alleles were observed with a mean of 9.50 alleles per locus. Genetic diversity was evaluated using measures such as allele frequency, observed and expected heterozygosity, and Shannon’s information index with average values of 5.44 ± 0.31, 0.59 ± 0.02, 0.64 ± 0.02, and 1.28 ± 0.05, respectively. Population differentiation and inbreeding analysis (F-statistics) indicated moderate genetic diversity and a slight degree of inbreeding across populations. Analysis of molecular variance indicated that 75% of the total genetic diversity was attributable to the within-population variation, whereas 9% and 16% were attributed to the variation among individuals and population differentiation, respectively. Indigenous duck populations (BLD, NAG, and RUP) had a close genetic relationship with JIN ducks and an intermediate relationship with two crossbreds (BWC and WHC), and the highest genetic distance was observed with PEK ducks. Neighbor-joining phylogenetic analysis revealed that the Bangladeshi indigenous duck populations formed a single cluster, while the two crossbreds (BWC and WHC) and PEK exhibited their distinct genetic identities in separate clusters. Furthermore, structure analysis at K = 2 to 5 confirmed the distinct genetic architecture (ΔK = 4.00) of the studied duck populations. This paper provides important insights into genetic diversity measures and population differentiation that will be helpful in future genetic improvement, conservation initiatives, and the design of appropriate breeding programs. Full article

Observations suggest that headwater streams have lower species diversity within a site than larger streams, but higher beta diversity, and thus gamma diversity, across a catchment. This pattern of diversity includes taxonomic richness and genetic diversity, as well as a high degree of endemism. I review several mechanisms that potentially contribute to the overall high diversity of freshwater organisms in headwaters, although these mechanisms are interdependent. These include the high numbers of headwater streams, heterogeneity of habitats and resources, founder effects, colonization dynamics, isolation, and strong selection, all leading to diversification of forms. However, riverscape diversity patterns vary across taxonomic and functional groups, highlighting that patterns of diversity are driven by different processes for different organisms. More explicitly structured sampling designs will better address patterns of taxonomic richness and for a broader range of taxa. It will be interesting to find ways to partition the relative importance of different mechanisms in contributing to the variation in diversity among headwaters. The great importance of headwater streams to global biodiversity conservation is clear, but will be more evident when better assessments of diversity patterns across these small systems are available. Full article

Cymbidium eburneum Lindl. is a valuable ornamental orchid and breeding parent, but its genetic background remains unclear due to habitat destruction and germplasm mixing. This study developed specific SSR markers to evaluate the genetic diversity and structure of 96 C. eburneum Lindl. accessions from China and Vietnam. Transcriptome analysis identified 47,248 SSR loci. Sixteen polymorphic core primer pairs detected 150 alleles (mean Na = 9.375) with an average Polymorphism Information Content (PIC) of 0.444. Observed heterozygosity (Ho = 0.290) was noticeably lower than expected (He = 0.478), indicating heterozygote deficiency. UPGMA clustering identified eight groups strongly correlated with geography. Principal Coordinate Analysis (PCoA) revealed a clear geographical differentiation pattern, featuring the most genetically cohesive group from Guangxi and more differentiated geographically marginal populations from Hainan and Vietnam. STRUCTURE analysis (K = 2) indicated two main gene pools with signals of genetic admixture. Geographical isolation was suggested as a potential driver of genetic differentiation. The Guangxi population represents a genetically consistent major reservoir, while marginal populations harbor unique variations. These findings provide a scientific basis for germplasm identification, conservation, and parental selection in C. eburneum Lindl. breeding. Full article

To address insufficient carbon integration, weakly verifiable quality constraints, and unstable Pareto-set generation in construction-stage green decision-making, this study develops a multi-objective optimization model for construction mode configuration and an engineering-oriented genetic algorithm (GA) framework for Pareto solution generation under hard feasibility constraints. In a construction organization scenario, duration, cost, and carbon emissions are formulated as parallel objectives, while a quality threshold, explicit process logic, and basic resource and workface-feasibility conditions are incorporated to ensure engineering implementability. Construction-stage carbon emissions are quantified using the emission factor method under an auditable activity-level accounting framework. The configured GA framework is compared with the conventional GA, the Non-dominated Sorting Genetic Algorithm II, and the Non-dominated Sorting Genetic Algorithm III through repeated-run statistics and multi-metric evaluation. On the main case, it achieves the highest mean hypervolume (0.723 ± 0.074, mean ± standard deviation), the lowest mean spacing (0.076 ± 0.207), and the smallest average convergence generation (18.49 ± 2.57). The Pareto results reveal a clear trade-off among duration, cost, and carbon emissions, in which high-load beam-and-slab formwork and concrete-related activities dominate cost and carbon variation, whereas schedule advantage mainly depends on stronger compression of critical-chain activities and inter-floor handover. Full article

Populations of several billfish species are declining due to overfishing and bycatch, and fundamental aspects of their biology and population dynamics remain poorly understood. We provide the first assessment of the population genetic structure of longbill spearfish (Tetrapturus pfluegeri) in the western Atlantic Ocean. We screened variation at 12 nuclear microsatellite loci (n = 144) and mitochondrial DNA control region sequences (mtCR, n = 177). Both marker types revealed three genetically differentiated clusters, with mean values for microsatellites showing differentiation of F_ST = 0.136 and D_EST = 0.201, and for mtCR F_ST = 0.645. Microsatellite markers demonstrated moderate-to-high genetic diversity, with a mean allelic richness of 6.73 alleles per locus, moderate heterozygosities (Ho = 0.446, He = 0.604), and a positive inbreeding coefficient (F_IS = 0.22) across the three sample collection sites. The overall estimated effective population size was 789.2 (95% CI: 246.7–∞). The mtCR exhibited 96 haplotypes, with high haplotype (0.989 ± 0.003) and nucleotide (0.025 ± 1.3%) diversities. We found higher mean relatedness within clusters than among them, supporting the interpretation of population subdivision and the Wahlund effect. Tajima’s D and Fu’s Fs were negative across all localities, with significant values observed along the Brazilian coast but not in the Caribbean Sea. These neutrality test results, together with low Harpending’s raggedness indices from DNA sequence mismatch distributions, are consistent with historical demographic expansion. Our findings establish a genetic baseline for fishery monitoring and management, contributing to the conservation of T. pfluegeri populations in the western Atlantic Ocean. Full article

Domestication has profoundly shaped the phenotypic differentiation and genetic architecture of Perilla. However, analyses of the morphological difference between its cultivated and weedy forms across its varieties remains incomplete. This study analyzed morphological variation, genetic diversity, population structure, and marker–trait associations of 45 accessions representing the cultivated and weedy forms of two Perilla varieties (P. frutescens var. frutescens and var. crispa) collected from South Korea and Japan. Analyses of ten qualitative and quantitative agronomic traits revealed clear domestication-related differentiation. Cultivated var. frutescens showed larger and heavier seeds, whereas cultivated var. crispa and the weedy accessions were characterized by longer inflorescences and higher floret numbers but smaller seeds. Strong positive correlations were observed among seed-related traits, particularly between seed size and seed weight (r = 0.932), indicating coordinated selection of seed traits. Genetic diversity analysis using 70 SSR markers identified 330 alleles consistent with domestication bottlenecks in cultivated forms while higher diversity was generally retained in the weedy accessions. Population structure, UPGMA clustering, and principal coordinate analyses broadly differentiated the cultivated and weedy accessions, although partial admixture indicated shared ancestry and historical gene flow. Association mapping using Q-based GLM and Q + K MLM models identified 23 significant marker–trait associations involving 16 SSR markers consistently detected across both models. Several markers were associated with multiple traits, implying pleiotropy or tight genetic linkage. Notably, five SSR markers (KNUPF192, KNUPF202, KNUPF207, KNUPF230, and KNUPF238) may represent potential candidate loci for marker-assisted selection to improve seed-related traits in var. frutescens and leaf-related traits in var. crispa. Full article

Basal blood pressure (BP) is partly determined by systemic vascular resistance, which is modulated by vasoactive pathways, including gaseous messengers. Carbon monoxide (CO), continuously generated by the constitutive enzyme heme oxygenase-2 (HO-2) encoded by HMOX2, promotes vascular smooth muscle relaxation and may contribute to interindividual variability in resting BP. The functional single-nucleotide polymorphism rs4786504_T>C has been associated with higher HMOX2 expression in C-allele carriers, providing a plausible biological link between genetic variation in the HO-2/CO pathway and vascular redox signaling. We investigated this association in forty young, healthy, normotensive adults studied under controlled laboratory conditions during a 4-day sleep deprivation protocol, with repeated standardized daytime BP measurements (478 observations). Linear mixed-effects models were adjusted for major physiological and behavioral covariates. T-allele carriers (C/T + T/T) exhibited higher diastolic BP (β = +6.08 mmHg, 95%CI [1.32–10.84], p = 0.017) and mean arterial pressure (β = +5.28 mmHg, 95%CI [0.28–10.29], p = 0.046) than C/C homozygotes, with no effect on systolic BP or heart rate. The association remained consistent across sensitivity and additive genetic models. This hypothesis-generating study provides preliminary evidence in humans, albeit limited by sample size, of a link between a functional HMOX2 variant and resting BP, consistent with a possible contribution of constitutive HO-2 activity to BP regulation. Full article

The tomato leaf miner, Phthorimaea (Tuta) absoluta, Meyrick 1917 is recognized as a highly destructive pest, causing significant economic losses to crops in both greenhouse and open field environments across four continents: Asia, Africa, Europe, and South America. High genetic homogeneity among populations from various regions and countries indicates significant gene flow between P. absoluta populations, suggesting a lack of geographical barriers to dispersion. Furthermore, P. absoluta has developed resistance to insecticides due to target-site mutations or metabolic resistance, which enable the insect to withstand lethal doses of insecticides. To control this insect pest, the plant-mediated RNA interference (RNAi) is most promising host-induced gene silencing technique, utilized the plant’s machinery to express double-stranded (dsRNA), which triggers the RNAi pathway in P. absoluta. Due to thermal tolerance, the P. absoluta has increased its area of invasion by 600 km per year over 9 years. Female P. absoluta releases pheromones that are recognized by males with a sophisticated olfactory circuit on their antenna. Pheromone binding proteins (PBPs) play a crucial role in mate recognition and attraction, and their expression peaks during courtship, specifically around 6:00 a.m. Given its potential to significantly alter the insect genome, clustered regularly interspaced short palindromic repeats (CRISPR) and CRISPR-associated protein 9 (Cas9) offer a revolutionary strategy to control P. absoluta. Furthermore, this pest has developed remarkable adaptations to survive on unfavorable hosts by secreting specific proteins from its salivary glands that detoxify plant defenses. Insecticide resistance is likely the cause of field control failures of P. absoluta. Biological control, sex pheromone traps, and cultural control are the most promising approaches to address insecticide resistance resulting from these failures. Therefore, the implementation of integrated control programs and appropriate resistance management strategies is necessary to keep P. absoluta infestations under economic damage thresholds. Full article

Colorectal cancer (CRC) shows consistent sex-related differences in incidence, anatomic distribution, molecular subtype, immune context, and clinical outcome. However, these differences are often discussed through broad parallel themes such as hormones, genetics, or the microbiome, rather than through the biological settings in which sex meaningfully modifies tumor behavior. This review argues that sex is most informative in CRC when treated as a contextual modifier whose relevance emerges only after integrating tumor sidedness, mismatch repair status, oncogenic background, immune ecology, and age at onset. The clearest signals arise from interaction-based contexts, particularly when sex is interpreted together with tumor sidedness and dMMR/MSI-H or BRAF-linked disease states. Current evidence indicates that women are enriched for proximal or right-sided, microsatellite instability-high, mismatch repair-deficient, CpG island methylator phenotype-high, and BRAF-associated CRC, whereas men more often present with distal disease and a higher overall burden. Mechanistic studies further show that sex-related differences extend beyond hormone exposure to include KRAS–STAT4–KDM5D signaling, site-specific immune-checkpoint programs, metabolic phenotypes, epigenetic biomarker variation, and microbiota–hormone crosstalk. These effects are most evident in defined clinical niches, particularly right-sided CRC, mismatch repair-deficient disease, BRAF-mutated metastatic CRC, and early-onset CRC. A sex-aware, subtype-aware, and location-aware framework therefore offers a more clinically useful interpretation of CRC heterogeneity than descriptive male-versus-female comparisons alone. Full article

Yield is a complex trait influenced by multiple components and their genetic behavior. Therefore, this study was designed to understand the complex nature of yield by uncovering relationships among traits and estimating the genetic parameters of lentil germplasm. One hundred and ninety-two lentil (Lens culinaris) germplasm samples were evaluated at Jamma and Enewari (field experiment) and at Debre Birehan agricultural research center (pot experiment) in Amhara Region, Ethiopia, in 2024 and 2025. An alpha lattice design was used for both set of experiment, and data on 12 agronomic traits were collected. Genetic parameter estimations, correlation, path, principal component and cluster analyses were performed in R. The results revealed substantial phenotypic and genetic variation among the evaluated germplasm, with high broad-sense heritability for flowering, maturity, and seed size traits, and moderate heritability for seeds per plant, plant height, harvest index, and yield. Yield exhibited a strong phenotypic correlation with harvest index (r = 0.78 in field and r = 0.95 in pots), biomass (r = 0.77 in the field and r = 0.78 in pots), seeds per plant (r = 0.42 in the field and r = 0.60 in pots), and podding (r = 0.45 in the field and r = 0.69 in pots). Similarly, genotypic correlations were high with harvest index (r = 0.83 in the field and r = 0.96 in pots), biomass (r = 0.75 in the field and r = 0.80 in pots), seeds per plant (r = 0.0.59 in the field and r = 0.58 in pots), and podding (r = 0.39 in the field and r = 0.68 in pot), and both their direct and indirect effects on yield were significantly high. Therefore, indirect selection through traits such as pods per plant, harvest index, biomass, and seeds per plant would be more effective and reliable for improving seed yield than direct selection for yield itself as this is highly affected by environmental variations. Full article