Search Results (2,606)

Background and Clinical Significance: Multiple Endocrine Neoplasia type 1 (MEN1) is a rare autosomal dominant disorder caused by mutations in the MEN1 gene. Although primarily characterized by endocrine tumors, renal manifestations remain underreported. Case Presentation: We report a three-generation family carrying a pathogenic MEN1 mutation (c.1351-3_1359del) with a co-occurring Claudin 16 (CLDN16) variant (c.324+13C>G). Genetic testing included MLPA and whole-exome sequencing (WES), with bioinformatics analysis validating variant pathogenicity. All three patients exhibited primary hyperparathyroidism, hypercalcemia, hypercalciuria, early nephrocalcinosis, and renal hypomagnesemia. The CLDN16 variant, previously considered benign, co-segregated with hypomagnesemia and renal involvement, suggesting a potential modifying role. Conclusions: These findings support the need for comprehensive genetic screening in MEN1 patients with atypical renal presentations. Concomitant genetic variations can alter the principal phenotype. Full article

Global warming and anthropogenic climate change are projected to expand the geographic distribution and population abundance of ectothermic species and exacerbate the biological invasion of exotic species. DNA methylation, as a reversible epigenetic modification, could provide a putative link between the phenotypic plasticity of invasive species and environmental temperature variations. We assessed and interpreted the epigenetic mechanisms of invasive and indigenous species’ differential tolerance to thermal stress through the invasive species Bemisia tabaci Mediterranean (MED) and the indigenous species Bemisia tabaci AsiaII3. We examine their thermal tolerance following exposure to heat and cold stress. We found that MED exhibits higher thermal resistance than AsiaII3 under heat stress. The fluorescence-labeled methylation-sensitive amplified polymorphism (F-MSAP) results proved that the increased thermal tolerance in MED is closely related to DNA methylation changes, other than genetic variation. Furthermore, the quantitative real-time polymerase chain reaction (qRT-PCR) and Western blotting analysis of DNA methyltransferases (Dnmts) suggested that increased expression of Dnmt3 regulates the higher thermal tolerance of female MED adults. A mechanism is revealed whereby DNA methylation enhances thermal tolerance in invasive species. Our results show that the Dnmt-mediated regulation mechanism is particularly significant for understanding invasive species’ successful invasion and rapid adaptation under global warming, providing new potential targets for controlling invasive species worldwide. Full article

This study measured eight key phenotypic traits across 259 fresh maize inbred lines, including plant height and spike length. A total of 82 single nucleotide polymorphisms (SNPs) significantly associated with these phenotypes were identified by applying a mixed linear model to calculate the best linear unbiased prediction (BLUP) values and integrating genome-wide genotypic data through genome-wide association analysis (GWAS). A further analysis of significant SNPs contributed to the identification of 63 candidate genes with functional annotations. Notably, 11 major candidate genes were identified from multi-trait association loci, all of which exhibited highly significant P-values (<0.0001) and explained between 7.21% and 12.78% of phenotypic variation. These 11 genes, located on chromosomes 1, 3, 4, 5, 6, and 9, were functionally involved in signaling, metabolic regulation, structural maintenance, and stress response, and are likely to play crucial roles in the growth and physiological processes of fresh maize inbred lines. The functional genes identified in this study have significant implications for the development of molecular markers, the optimization of breeding strategies, and the enhancement of quality in fresh maize. Full article

Disparities in the functional classification of secretory genes among aphid taxa may be attributed to variations in coding sequences and gene expression profiles. However, the driving factors that regulate sequence evolution remain unclear. This study aimed to investigate the differences in coding sequences and expression patterns of secretory genes between the rose grain aphid (Metopolophium dirhodum) and the pea aphid (Acrythosiphon pisum), with a particular focus on their roles in evolutionary adaptations and functional diversity. The study involved the rearing of aphids, RNA extraction, de novo transcriptome assembly, functional annotation, secretory protein prediction, and comparative analysis of coding sequences and expression patterns across various functional categories using bioinformatics tools. The results revealed that metabolic genes exhibited greater coding sequence divergence, indicating the influence of positive selection. Moreover, significant expression divergence was noted among functional categories, particularly in metabolic and genetic information processing genes, which exhibited higher variability. This study enhances our understanding of the molecular mechanisms that contribute to phenotypic and genetic diversity among aphid species. This study elucidates the relationship between variations in coding sequences and differences in gene expression among functional categories, thereby establishing a foundation for future studies on gene evolution in response to environmental pressures. Full article

Background: Population persistence for organisms to survive in a world with a rapidly changing climate will require either dispersal to suitable areas, evolutionary adaptation to altered conditions and/or sufficient phenotypic plasticity to withstand it. Given the slow growth and geographically isolated populations of many tree species, there is a high likelihood of local adaption or the acclimation of functional traits in these populations across the UK. Objectives: Given the slow growth and often isolated populations of Tilia cordata (lime tree), we hypothesised that there is a high likelihood of local adaptation or the acclimation of metabolic traits in these populations across the UK. Our aim was to test if the functional metabolomic traits of Tilia cordata (lime tree), collected in situ from natural populations, varied within and between populations and to compare this to neutral allele variation in the population. Methods: We used a metabolic fingerprinting approach to obtain a snapshot of the metabolic status of leaves collected from T. cordata from six populations across the UK. Environmental metadata, longer-term functional traits (specific leaf area) and neutral allelic variation in the population were also measured to assess the plastic capacity and local adaptation of the species. Results: The metabolic fingerprints derived from leaf material collected and fixed in situ from individuals in six populations of T. cordata across its UK range were similar, despite contrasting environmental conditions during sampling. Neutral allele frequencies showed almost no significant group structure, indicating low differentiation between populations. The specific leaf area did vary between sites. Conclusions: The low metabolic variation between UK populations of T. cordata despite contrasting environmental conditions during sampling indicates high levels of phenotypic plasticity. Full article

Understanding how habitat conditions drive morphological adaptations in animals is critical in ecology, yet amphibian studies remain limited. This study investigated intraspecific variation in ecomorphological traits of three montane stream-dwelling frogs (Quasipaa boulengeri, Amolops sinensis, and Odorrana margaratae) across elevation gradients in Tianping Mountain, China. Using morphological measurements and environmental variables collected from ten transects, we analyzed functional traits related to feeding and locomotion and assessed their associations with microhabitat variables. Significant trait differences between low- and high-elevation groups were detected only in Q. boulengeri, with high-elevation individuals exhibiting greater body mass and shorter hindlimbs. Redundancy analysis demonstrated that microhabitat variables, particularly air humidity, flow rate, and rock coverage, were linked to trait variations. For example, air humidity and flow rate significantly influenced Q. boulengeri’s body and limb proportions, while flow rate affected A. sinensis’s snout and limb morphology. In addition, sex and seasonal effects were also associated with trait variations. These results underscore amphibians’ phenotypic plasticity in response to the environment and highlight the role of microhabitat complexity in shaping traits. By linking habitat heterogeneity to eco-morphology, this study advocates for conservation strategies that preserve varied stream environments to support amphibian resilience amid environmental changes. Full article

Sorghum is an important cereal crop. The maintenance of leaf color significantly influences sorghum growth and development. Although the mechanisms of leaf color mutation have been well studied in many plants, those in sorghum remain largely unclear. Here, we identified a sorghum gradient-pale-green leaf mutant (sbgpgl1) from the ethyl methanesulfonate (EMS) mutagenesis mutant library. Phenotypic, photosynthesis-related parameter, ion content, transcriptome, and metabolome analyses were performed on wild-type BTx623 and the sbgpgl1 mutant at the heading stage, revealing changes in several agronomic traits and physiological indicators. Compared with BTx623, sbgpgl1 showed less height, with a smaller length and width of leaf and panicle. The overall Chl a and Chl b contents in sbgpgl1 were lower than those in BTx623. The net photosynthetic rate, stomatal conductance, and transpiration rate were significantly reduced in sbgpgl1 compared to BTx623. The content of copper (Cu), zinc (Zn), and manganese (Mn) was considerably lower in sbgpgl1 leaves than in BTx623. A total of 4469 differentially expressed genes (DEGs) and 775 differentially accumulated metabolites (DAMs) were identified by RNA-seq and UPLC-MS/MS. The results showed that sbgpgl1 primarily influenced sorghum metabolism by regulating metabolic pathways and the biosynthesis of secondary metabolites, especially flavonoids and phenolic acids, resulting in the gradient-pale-green leaf phenotype. These findings reveal key genes and metabolites involved on a molecular basis in physiological variations of the sorghum leaf color mutant. Full article

Parrotia subaequalis is a rare and endangered deciduous tree native to China, valued for its vibrant autumn foliage and ornamental appeal. Its leaves exhibit striking coloration, ranging from red to yellow and purple, yet the physiological and molecular mechanisms behind this variation remain poorly understood. Here, we combined transcriptomic, metabolomic, and physiological analyses to investigate pigment changes within the yellow leaf phenotype of P. subaequalis. Our findings revealed significant differences in gene expression and metabolic profiles between yellow and green leaves, particularly in starch and sucrose metabolism, photosynthesis, and carbon metabolism. Yellow leaves exhibited reduced photosynthetic capacity and carotenoid levels, alongside increased D-glucose concentration. These findings suggest that visible color transitions are likely driven by coordinated changes in carbohydrate metabolism, photosynthetic function, and organic compound accumulation. This study provides novel insights into the molecular and physiological mechanisms governing leaf pigmentation in an endangered tree, with useful information relevant to their conservation and sustainable utilization. Full article

Anchote (Coccinia abyssinica) is a neglected high-potential food and nutrition security tuber crop in Ethiopia. Phenotyping core germplasm collections using agro-morphological and physiological markers is essential for effective crop improvement and utilization. A total of 282 anchote germplasms were profiled using six qualitative and twenty-six quantitative agro-morphological and physiological traits. Augmented Block Design was used for the experiment at the Debre Zeit Agricultural Research Center. The chi-square test and Shannon diversity index indicated the presence of substantial phenotypic variation and diversity among the accessions based on the predominant qualitative traits studied. The quantitative agro-morphological and physiological traits showed wider variability and ranges for the accessions. The broad-sense heritability and genetic advance as a percentage of the mean were notably high for quantitative traits such as root yield, vine length, and leaf area index. A significantly positive correlation was observed among agronomically important traits such as root yield and root diameter as well as root yield and leaf area. The principal component analysis for qualitative and quantitative traits found that ten components explained 72.2% of the variation for qualitative traits, whereas nine components accounted for 69.96% of the variation in quantitative traits. The primary contributors to the variations are traits such as root (shape, flesh color, and yield), leaf (color, length, diameter, area) and fruit (length, diameter, and weight). Further, the accessions were grouped into two and three clusters based on qualitative and quantitative traits, respectively, indicating that quantitative characters better differentiated among the accessions. Similarly, the tanglegram showed little similarity between the qualitative and quantitative agro-morphological and physiological traits in clustering the accessions. These findings indicate the presence of sizable trait variation among the accessions that can be exploited as a selection marker to design and facilitate conservation and breeding strategies of anchote. Full article

Quinoa (Chenopodium quinoa Willd.) has emerged as a climate-resilient, nutrient-dense crop with increasing global popularity because of its adaptability under current environmental variations. To address the limited understanding of quinoa’s genotypic performance under local agro-environmental conditions, this study hypothesized that elite genotypes would exhibit significant variation in agronomic, physiological, and biochemical traits. This study aimed to elucidate genotypic variability among 23 elite quinoa lines under field conditions in Faisalabad, Pakistan, using a multidimensional framework that integrated phenological, physiological, biochemical, root developmental, and yield-related attributes. The results revealed that significant variation was observed across all measured parameters, highlighting the diverse adaptive strategies and functional capacities among the tested genotypes. More specifically, genotypes Q4, Q11, Q15, and Q126 demonstrated superior agronomic potential and canopy-level physiological efficiencies, including high biomass accumulation, low infrared canopy temperatures and sustained NDVI values. Moreover, Q9 and Q52 showed enhanced accumulation of antioxidant compounds such as phenolics and anthocyanins, suggesting potential for functional food applications and breeding program for improving these traits in high-yielding varieties. Furthermore, root trait analysis revealed Q15, Q24, and Q82 with well-developed root systems, suggesting efficient resource acquisition and sufficient support for above-ground plant parts. Moreover, principal component analysis further clarified genotype clustering based on trait synergistic effects. These findings support the use of multidimensional phenotyping to identify ideotypes with high yield potential, physiological efficiency and nutritional value. The study provides a foundational basis for quinoa improvement programs targeting climate adaptability and quality enhancement. Full article

Although cranial growth has been extensively explored, forensic and biological anthropology lack a formal incorporation of how cranial growth processes impact the adult phenotype and downstream biological profile estimations. Objectives: This research uses an ontogenetic framework to identify when interlandmark distances (ILDs) stabilize during growth to reach adult levels of variation and to evaluate patterns of cranial sexual size dimorphism. Methods: Multivariate adaptive regression splines (MARS) were conducted on standardized cranial ILDs for 595 individuals from the Subadult Virtual Anthropology Database (SVAD) and the Forensic Data Bank (FDB) aged between birth and 25 years. Cross-Validated R-squared (CVRSq) values evaluated ILD variation explained by age while knot placements identified meaningful changes in ILD growth trajectories. Results: Results reveal the ages at which males and females reach craniometric maturity across splanchnocranium, neurocranium, basicranium and cross-regional ILDs. Changes in growth patterns observed here largely align with growth milestones of integrated soft tissue and skeletal structures as well as developmental milestones like puberty. Conclusions: Our findings highlight the variability in growth by sex and cranial region and move forensic anthropologists towards recognizing cranial growth as a mosaic, continuous process with overlap between subadults and adults rather than consistently approaching subadult and adult research separately. Full article

Leaf phenology of trees responds to temperature and photoperiod cues, mediated by underlying genes and plasticity. However, uncertainties remain regarding how smaller-scale phenological variation in cold-limited regions has been affected by modified selection pressures from herbivores, pathogens, and climate conditions, and whether this leaves genetic signatures allowing for projections of future responses. We investigated environmental correlates and genetic variation putatively associated with spring and autumn leaf phenology in northern range margin oak (Quercus robur L.) populations in Sweden (55.6° N–60.8° N). Results suggested that budburst occurred later at higher latitudes and in locations with colder spring (April) temperatures, whereas leaf senescence occurred earlier at higher latitudes. Several candidate loci associated with phenology were identified (n = 40 for budburst and 47 for leaf senescence), and significant associations between these loci and latitude were detected. Functions associated with some of the candidate loci, as identified in previous studies, included host defence and heat stress tolerance. The proportion of polymorphic candidate loci associated with budburst decreased with increasing latitude, towards the range margin. Overall, the Swedish oak population seems to comprise genetic diversity in phenology-related traits that may provide resilience to a rapidly changing climate. Full article

Cucurbita pepo (CP) seeds are traditionally used to alleviate lower urinary tract symptoms associated with benign prostatic hyperplasia and overactive bladder. While these effects are often attributed to lipophilic constituents, recent studies have highlighted the therapeutic potential of oil-free hydroethanolic extracts. However, their composition remains insufficiently characterized, considering the species’ significant phenotypic and phytochemical variability. This study aimed to characterize the phytochemical profile of hydrophilic hydroethanolic seed extracts from ten CP cultivars originating from different European regions, with a focus on compositional variability. The elemental composition, along with primary and secondary metabolites, was analyzed using established spectroscopic and chromatographic methods. The extracts showed considerable variation in protein (45.39 to 114.58 mg/g dw) and free amino acid content (46.51 to 111.10 mg/g dw), as well as differences in elemental composition. Principal component analysis revealed distinct clustering patterns, with several samples displaying metabolite profiles comparable to the Cucurbita pepo var. styriaca variety currently recommended by the European Pharmacopoeia (Ph. Eur.) and the Committee on Herbal Medicinal Products (HMPC). These findings open the possibility of using other CP varieties as alternative sources for extract preparation and offer novel insights into the composition of less explored hydrophilic extracts derived from CP seeds. Full article

The arboreal rodent Oecomys catherinae, which has a wide geographic distribution across Brazilian biomes, provides a model for investigating environmental influences on morphological variation. We assessed craniodental differences between the Atlantic Forest and Cerrado biomes, as well as along latitudinal gradients, using 45 specimens from 18 localities. Linear morphometric analyses (21 measurements) revealed no significant sexual dimorphism, allowing for pooled analyses. Principal Component Discriminant Analysis (DAPC) confirmed significant morphological divergence between biomes (72% accuracy, p < 0.01). We identified bony palate length (BPL) as the most discriminating variable, with higher values in the Atlantic Forest, suggesting a possible dietary adaptation in response to ecological pressures. Latitudinal effects were modest (adjusted R² = 0.05) although significant (F_1,43 = 3.63; p = 0.03), with southern populations exhibiting larger cranial dimensions than northern ones. We conclude that biome type and latitude played important roles in shaping cranial morphology in O. catherinae populations. Full article

Background: Neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD), are genetically complex and often linked to structural genomic variations such as copy number variants (CNVs). Current diagnostic strategies face challenges in interpreting the clinical significance of such variants. Methods: We developed a customized, gene-oriented chromosomal microarray (CMA) targeting 6026 genes relevant to neurodevelopment, aiming to improve diagnostic yield and candidate gene prioritization. A total of 39 patients with unexplained developmental delay, intellectual disability, and/or ASD were analyzed using this custom platform. Systems biology approaches were employed for downstream interpretation, including protein–protein interaction networks, centrality measures, and tissue-specific functional module analysis. Results: Pathogenic or likely pathogenic CNVs were identified in 31% of cases (9/29). Network analyses revealed candidate genes with key topological properties, including central “hubs” (e.g., NPEPPS, PSMG1, DOCK8) and regulatory “bottlenecks” (e.g., SLC15A4, GLT1D1, TMEM132C). Tissue- and cell-type-specific network modeling demonstrated widespread gene involvement in both prenatal and postnatal developmental modules, with glial and astrocytic networks showing notable enrichment. Several novel CNV regions with high pathogenic potential were identified and linked to neurodevelopmental phenotypes in individual patient cases. Conclusions: Customized CMA offers enhanced detection of clinically relevant CNVs and provides a framework for prioritizing novel candidate genes based on biological network integration. This approach improves diagnostic accuracy in NDDs and identifies new targets for future functional and translational studies, highlighting the importance of glial involvement and immune-related pathways in neurodevelopmental pathology. Full article