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Keywords = biological traits

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16 pages, 1298 KiB  
Article
Genetic Effects of Chicken Pre-miR-3528 SNP on Growth Performance, Meat Quality Traits, and Serum Enzyme Activities
by Jianzhou Shi, Jinbing Zhao, Bingxue Dong, Na Li, Lunguang Yao and Guirong Sun
Animals 2025, 15(15), 2300; https://doi.org/10.3390/ani15152300 - 6 Aug 2025
Abstract
The aim was to investigate the genetic effects of a SNP located in the precursor region of gga-miR-3528. (1) Single-nucleotide polymorphisms within precursor regions of microRNAs play crucial biological roles. (2) Utilizing a Gushi–Anka F2 resource population (n = 860), [...] Read more.
The aim was to investigate the genetic effects of a SNP located in the precursor region of gga-miR-3528. (1) Single-nucleotide polymorphisms within precursor regions of microRNAs play crucial biological roles. (2) Utilizing a Gushi–Anka F2 resource population (n = 860), we screened and validated miRNA SNPs. A SNP mutation in the miR-3528 precursor region was identified. Specific primers were designed to amplify the polymorphic fragment. Genotyping was performed for this individual SNP across the population, using the MassArray system. Association analyses were conducted between this SNP and chicken growth and body measurement traits, carcass traits, meat quality traits, and serum enzyme activities. (3) The rs14098602 (+12 bp A > G) was identified within the precursor region of gga-miR-3528. Significant associations (p < 0.05) were observed between this SNP and chicken growth traits (body weight at the age of 0 day, body weight at the age of 2 weeks, and body weight at the age of 4 weeks), carcass traits (evisceration weight), meat quality traits (subcutaneous fat rate and pectoral muscle density), and serum enzyme activities (total protein, albumin, globulin, cholinesterase, and lactate dehydrogenase). (4) These findings suggest that the polymorphism at rs14098602 may influence chicken growth, meat quality, and serum biochemical indices, through specific mechanisms. The gga-miR-3528 gene likely plays an important role in chicken development. Therefore, this SNP can serve as a molecular marker for genetic breeding and auxiliary selection of growth-related traits, facilitating the rapid establishment of elite chicken populations with superior genetic resources. Full article
(This article belongs to the Section Poultry)
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15 pages, 4075 KiB  
Article
Biological Characteristics and Domestication of a Wild Hericium coralloides
by Ji-Ling Song, Ya Xin, Zu-Fa Zhou, Xue-Ping Kang, Yang Zhang, Wei-Dong Yuan and Bin Yu
Horticulturae 2025, 11(8), 917; https://doi.org/10.3390/horticulturae11080917 (registering DOI) - 5 Aug 2025
Abstract
Hericium coralloides is a highly valued gourmet and medicinal species with growing market demand across East Asia, though industrial production remains limited by cultivation challenges. This study investigated the molecular characteristics, biological traits, domestication potential, and cultivation protocols of Hericium coralloides strains collected [...] Read more.
Hericium coralloides is a highly valued gourmet and medicinal species with growing market demand across East Asia, though industrial production remains limited by cultivation challenges. This study investigated the molecular characteristics, biological traits, domestication potential, and cultivation protocols of Hericium coralloides strains collected from the Changbaishan Nature Reserve (Jiling, China). Optimal conditions for mycelial growth included mannose as the preferred carbon source, peptone as the nitrogen source, 30 °C incubation temperature, pH 5.5, and magnesium sulfate as the essential inorganic salt. The fruiting bodies had a protein content of 2.43% g/100 g (fresh sample meter). Total amino acids comprised 53.3% of the total amino acid profile, while essential amino acids accounted for 114.11% relative to non-essential amino acids, indicating high nutritional value. Under optimized domestication conditions—70% hardwood chips, 20% cottonseed hulls, 8% bran, 1% malic acid, and 1% gypsum—bags reached full colonization in 28 days, with a 15-day maturation phase and initial fruiting occurring after 12–14 days. The interval between flushes was 10–12 days. The average yield reached 318.65 ± 31.74 g per bag, with a biological conversion rate of 63.73%. These findings demonstrate that Hericium coralloides possesses significant potential for edible and commercial applications. This study provides a robust theoretical foundation and resource reference for its artificial cultivation, supporting its broader industrial and economic utilization. Full article
(This article belongs to the Special Issue Advances in Propagation and Cultivation of Mushroom)
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24 pages, 6550 KiB  
Article
DNA Fingerprint Profile of Zizania spp. Plant, Monitoring Its Leaves with Screening of Their Biological Activity: Antimicrobial, Antioxidant and Cytotoxicity
by Latifah A. Al Shammari
Life 2025, 15(8), 1240; https://doi.org/10.3390/life15081240 - 5 Aug 2025
Abstract
This study presents an integrated approach combining molecular, phytochemical, and biological analyses to characterize a newly discovered Zizania specimen from the northern Nile Delta, Egypt. Genetic fingerprinting using RAPD and ISSR markers revealed 85% band-sharing similarity with Zizania texana (Z. texana), [...] Read more.
This study presents an integrated approach combining molecular, phytochemical, and biological analyses to characterize a newly discovered Zizania specimen from the northern Nile Delta, Egypt. Genetic fingerprinting using RAPD and ISSR markers revealed 85% band-sharing similarity with Zizania texana (Z. texana), though distinct morphological and genetic traits suggested potential intraspecific variation. Phytochemical profiling identified high concentrations of bioactive compounds, including quercetin (42.1 µg/mL), β-caryophyllene (11.21%), and gallic acid (23.4 µg/mL), which are pertinent and correlated with robust biological activities. The ethanolic leaf extract exhibited significant antioxidant capacity (IC50 = 38.6 µg/mL in DPPH assay), potent antimicrobial effects against Candida albicans (C. albicans) (IC50 = 4.9 ± 0.6 µg/mL), and dose-dependent cytotoxicity against cancer cell lines. MCF-7 has the lowest IC50 (28.3 ± 1.5 µg/mL), indicating the highest potency among the tested cell lines. In contrast, HepG2 demonstrates moderate sensitivity (IC50 = 31.4 ± 1.8 µg/mL), while A549 shows the highest IC50 value (36.9 ± 2.0 µg/mL), indicating greater resistance. These findings underscore the taxonomic novelty of the specimen and its potential as a source of natural antioxidants, antimicrobials, and anticancer agents. The study highlights the importance of interdisciplinary approaches in resolving taxonomic uncertainties and unlocking the medicinal value of understudied aquatic plants. Full article
(This article belongs to the Special Issue Therapeutic Innovations from Plants and Their Bioactive Extracts)
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20 pages, 1622 KiB  
Review
Behavioural Cardiology: A Review on an Expanding Field of Cardiology—Holistic Approach
by Christos Fragoulis, Maria-Kalliopi Spanorriga, Irini Bega, Andreas Prentakis, Evangelia Kontogianni, Panagiotis-Anastasios Tsioufis, Myrto Palkopoulou, John Ntalakouras, Panagiotis Iliakis, Ioannis Leontsinis, Kyriakos Dimitriadis, Dimitris Polyzos, Christina Chrysochoou, Antonios Politis and Konstantinos Tsioufis
J. Pers. Med. 2025, 15(8), 355; https://doi.org/10.3390/jpm15080355 - 4 Aug 2025
Abstract
Cardiovascular disease (CVD) remains Europe’s leading cause of mortality, responsible for >45% of deaths. Beyond established risk factors (hypertension, diabetes, dyslipidaemia, smoking, obesity), psychosocial elements—depression, anxiety, financial stress, personality traits, and trauma—significantly influence CVD development and progression. Behavioural Cardiology addresses this connection by [...] Read more.
Cardiovascular disease (CVD) remains Europe’s leading cause of mortality, responsible for >45% of deaths. Beyond established risk factors (hypertension, diabetes, dyslipidaemia, smoking, obesity), psychosocial elements—depression, anxiety, financial stress, personality traits, and trauma—significantly influence CVD development and progression. Behavioural Cardiology addresses this connection by systematically incorporating psychosocial factors into prevention and rehabilitation protocols. This review examines the HEARTBEAT model, developed by Greece’s first Behavioural Cardiology Unit, which aligns with current European guidelines. The model serves dual purposes: primary prevention (targeting at-risk individuals) and secondary prevention (treating established CVD patients). It is a personalised medicine approach that integrates psychosocial profiling with traditional risk assessment, utilising tailored evaluation tools, caregiver input, and multidisciplinary collaboration to address personality traits, emotional states, socioeconomic circumstances, and cultural contexts. The model emphasises three critical implementation aspects: (1) digital health integration, (2) cost-effectiveness analysis, and (3) healthcare system adaptability. Compared to international approaches, it highlights research gaps in psychosocial interventions and advocates for culturally sensitive adaptations, particularly in resource-limited settings. Special consideration is given to older populations requiring tailored care strategies. Ultimately, Behavioural Cardiology represents a transformative systems-based approach bridging psychology, lifestyle medicine, and cardiovascular treatment. This integration may prove pivotal for optimising chronic disease management through personalised interventions that address both biological and psychosocial determinants of cardiovascular health. Full article
(This article belongs to the Special Issue Personalized Diagnostics and Therapy for Cardiovascular Diseases)
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32 pages, 1447 KiB  
Article
Haplotypes of Echinococcus granulosus sensu stricto in Chile and Their Comparison Through Sequences of the Mitochondrial cox1 Gene with Haplotypes from South America and Other Continents
by Nicole Urriola-Urriola, Gabriela Rossi-Vargas and Yenny Nilo-Bustios
Parasitologia 2025, 5(3), 40; https://doi.org/10.3390/parasitologia5030040 - 1 Aug 2025
Viewed by 167
Abstract
Cystic echinococcosis is a zoonosis caused by the cestode Echinococcus granulosus sensu stricto. Population genetic studies and phylogeographic patterns are essential to understanding the transmission dynamics of this parasite under varying environmental conditions. In this study, the genetic diversity of E. granulosus [...] Read more.
Cystic echinococcosis is a zoonosis caused by the cestode Echinococcus granulosus sensu stricto. Population genetic studies and phylogeographic patterns are essential to understanding the transmission dynamics of this parasite under varying environmental conditions. In this study, the genetic diversity of E. granulosus s.s. was evaluated using 46 hydatid cyst samples obtained from sheep, goats, cattle, and humans across three regions of Chile: Coquimbo, La Araucanía, and Magallanes. Mitochondrial cox1 gene sequences were analyzed and compared with reference sequences reported from South America, Europe, Africa, Asia, and Oceania. In Chile, the EG01 haplotype was the predominant haplotype. A total of four haplotypes were identified, with low haplotype diversity (Hd = 0.461 ± 0.00637) and low nucleotide diversity (π = 0.00181 ± 0.00036). The haplotype network displayed a star-like configuration, with the EG01 genotype at the center, suggesting a potentially ancestral or widely distributed lineage. In Coquimbo (Tajima’s D = −0.93302, p = 0.061; Fu’s Fs = −0.003, p = 0.502) and Magallanes (Tajima’s D = −0.17406, p = 0.386; Fu’s Fs = −0.121, p = 0.414), both neutrality tests were non-significant, indicating no strong evidence for recent population expansion or selection. Star-like haplotype network patterns were also observed in populations from Europe, the Middle East, Asia, Africa, and Oceania, with the EG01 genotype occupying the central position. The population genetic structure of Echinococcus granulosus s.s. in Chile demonstrates considerable complexity, with EG01 as the predominant haplotype. Further comprehensive studies are required to assess the intraspecific genetic variability of E. granulosus s.s. throughout Chile and to determine whether this variability influences the key biological traits of the parasite. This structure may prove even more complex when longer fragments are analyzed, which could allow for the detection of finer-scale microdiversity among isolates from different hosts. We recommended that future cystic echinococcosis control programs take into account the genetic variability of E. granulosus s.s. strains circulating in each endemic region, to better understand their epidemiological, immunological, and possibly pathological differences. Full article
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9 pages, 220 KiB  
Communication
Characterisation of the Ovine KRTAP36-1 Gene in Chinese Tan Lambs and Its Impact on Selected Wool Traits
by Lingrong Bai, Huitong Zhou, Jinzhong Tao, Guo Yang and Jon G. H. Hickford
Animals 2025, 15(15), 2265; https://doi.org/10.3390/ani15152265 - 1 Aug 2025
Viewed by 140
Abstract
Wool has distinctive biological, physical, and chemical properties that contribute to its value both for the sheep and in global fibre and textile markets. Its fibres are primarily composed of proteins, principally keratin and keratin-associated proteins (KAPs). To better comprehend the genes that [...] Read more.
Wool has distinctive biological, physical, and chemical properties that contribute to its value both for the sheep and in global fibre and textile markets. Its fibres are primarily composed of proteins, principally keratin and keratin-associated proteins (KAPs). To better comprehend the genes that underpin key wool traits, this study examined the keratin-associated protein 36-1 gene (KRTAP36-1) in Chinese Tan lambs. We identified three previously reported alleles of the gene (named A, B and C) that were present in the lambs studied, with genotype frequencies as follows: 2.0% (n = 5; AA), 6.9% (n = 17; AB), 13.8% (n = 34; AC), 8.9% (n = 22; BB), 33.4% (n = 82; BC) and 35.0% (n = 86; CC). The frequencies of the individual alleles in the Chinese Tan lambs were 12.4%, 29.1% and 58.5% for alleles A, B and C, respectively. The three alleles were in Hardy–Weinberg Equilibrium. In an association analysis, it was revealed that allele C was associated with variation in the mean fibre curvature of the fine wool of the Chinese Tan lambs, but this association was not observed in their heterotypic hair fibres. This finding suggests that KRTAP36-1 might be differentially expressed in the wool follicles that produce the two fibre types, and that along with other KRTAP genes, it may be involved in determining fibre curvature and the distinctive curly coat of the lambs. Full article
(This article belongs to the Special Issue Genetic Analysis of Important Traits in Domestic Animals)
36 pages, 3621 KiB  
Review
Harnessing Molecular Phylogeny and Chemometrics for Taxonomic Validation of Korean Aromatic Plants: Integrating Genomics with Practical Applications
by Adnan Amin and Seonjoo Park
Plants 2025, 14(15), 2364; https://doi.org/10.3390/plants14152364 - 1 Aug 2025
Viewed by 338
Abstract
Plant genetics and chemotaxonomic analysis are considered key parameters in understanding evolution, plant diversity and adaptation. Korean Peninsula has a unique biogeographical landscape that supports various aromatic plant species, each with considerable ecological, ethnobotanical, and pharmacological significance. This review aims to provide a [...] Read more.
Plant genetics and chemotaxonomic analysis are considered key parameters in understanding evolution, plant diversity and adaptation. Korean Peninsula has a unique biogeographical landscape that supports various aromatic plant species, each with considerable ecological, ethnobotanical, and pharmacological significance. This review aims to provide a comprehensive overview of the chemotaxonomic traits, biological activities, phylogenetic relationships and potential applications of Korean aromatic plants, highlighting their significance in more accurate identification. Chemotaxonomic investigations employing techniques such as gas chromatography mass spectrometry, high-performance liquid chromatography, and nuclear magnetic resonance spectroscopy have enabled the identification of essential oils and specialized metabolites that serve as valuable taxonomic and diagnostic markers. These chemical traits play essential roles in species delimitation and in clarifying interspecific variation. The biological activities of selected taxa are reviewed, with emphasis on antimicrobial, antioxidant, anti-inflammatory, and cytotoxic effects, supported by bioassay-guided fractionation and compound isolation. In parallel, recent advances in phylogenetic reconstruction employing DNA barcoding, internal transcribed spacer regions, and chloroplast genes such as rbcL and matK are examined for their role in clarifying taxonomic uncertainties and inferring evolutionary lineages. Overall, the search period was from year 2001 to 2025 and total of 268 records were included in the study. By integrating phytochemical profiling, pharmacological evidence, and molecular systematics, this review highlights the multifaceted significance of Korean endemic aromatic plants. The conclusion highlights the importance of multidisciplinary approaches including metabolomics and phylogenomics in advancing our understanding of species diversity, evolutionary adaptation, and potential applications. Future research directions are proposed to support conservation efforts. Full article
(This article belongs to the Special Issue Applications of Bioinformatics in Plant Science)
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40 pages, 2173 KiB  
Review
Bridging Genes and Sensory Characteristics in Legumes: Multi-Omics for Sensory Trait Improvement
by Niharika Sharma, Soumi Paul Mukhopadhyay, Dhanyakumar Onkarappa, Kalenahalli Yogendra and Vishal Ratanpaul
Agronomy 2025, 15(8), 1849; https://doi.org/10.3390/agronomy15081849 - 31 Jul 2025
Viewed by 674
Abstract
Legumes are vital sources of protein, dietary fibre and nutrients, making them crucial for global food security and sustainable agriculture. However, their widespread acceptance and consumption are often limited by undesirable sensory characteristics, such as “a beany flavour”, bitterness or variable textures. Addressing [...] Read more.
Legumes are vital sources of protein, dietary fibre and nutrients, making them crucial for global food security and sustainable agriculture. However, their widespread acceptance and consumption are often limited by undesirable sensory characteristics, such as “a beany flavour”, bitterness or variable textures. Addressing these challenges requires a comprehensive understanding of the complex molecular mechanisms governing appearance, aroma, taste, flavour, texture and palatability in legumes, aiming to enhance their sensory appeal. This review highlights the transformative power of multi-omics approaches in dissecting these intricate biological pathways and facilitating the targeted enhancement of legume sensory qualities. By integrating data from genomics, transcriptomics, proteomics and metabolomics, the genetic and biochemical networks that directly dictate sensory perception can be comprehensively unveiled. The insights gained from these integrated multi-omics studies are proving instrumental in developing strategies for sensory enhancement. They enable the identification of key biomarkers for desirable traits, facilitating more efficient marker-assisted selection (MAS) and genomic selection (GS) in breeding programs. Furthermore, a molecular understanding of sensory pathways opens avenues for precise gene editing (e.g., using CRISPR-Cas9) to modify specific genes, reduce off-flavour compounds or optimise texture. Beyond genetic improvements, multi-omics data also inform the optimisation of post-harvest handling and processing methods (e.g., germination and fermentation) to enhance desirable sensory profiles and mitigate undesirable ones. This holistic approach, spanning from the genetic blueprint to the final sensory experience, will accelerate the development of new legume cultivars and products with enhanced palatability, thereby fostering increased consumption and ultimately contributing to healthier diets and more resilient food systems worldwide. Full article
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27 pages, 4228 KiB  
Article
Whole-Genome Analysis of Halomonas sp. H5 Revealed Multiple Functional Genes Relevant to Tomato Growth Promotion, Plant Salt Tolerance, and Rhizosphere Soil Microecology Regulation
by Yan Li, Meiying Gu, Wanli Xu, Jing Zhu, Min Chu, Qiyong Tang, Yuanyang Yi, Lijuan Zhang, Pan Li, Yunshu Zhang, Osman Ghenijan, Zhidong Zhang and Ning Li
Microorganisms 2025, 13(8), 1781; https://doi.org/10.3390/microorganisms13081781 - 30 Jul 2025
Viewed by 248
Abstract
Soil salinity adversely affects crop growth and development, leading to reduced soil fertility and agricultural productivity. The indigenous salt-tolerant plant growth-promoting rhizobacteria (PGPR), as a sustainable microbial resource, do not only promote growth and alleviate salt stress, but also improve the soil microecology [...] Read more.
Soil salinity adversely affects crop growth and development, leading to reduced soil fertility and agricultural productivity. The indigenous salt-tolerant plant growth-promoting rhizobacteria (PGPR), as a sustainable microbial resource, do not only promote growth and alleviate salt stress, but also improve the soil microecology of crops. The strain H5 isolated from saline-alkali soil in Bachu of Xinjiang was studied through whole-genome analysis, functional annotation, and plant growth-promoting, salt-tolerant trait gene analysis. Phylogenetic tree analysis and 16S rDNA sequencing confirmed its classification within the genus Halomonas. Functional annotation revealed that the H5 genome harbored multiple functional gene clusters associated with plant growth promotion and salt tolerance, which were critically involved in key biological processes such as bacterial survival, nutrient acquisition, environmental adaptation, and plant growth promotion. The pot experiment under moderate salt stress demonstrated that seed inoculation with Halomonas sp. H5 not only significantly improved the agronomic traits of tomato seedlings, but also increased plant antioxidant enzyme activities under salt stress. Additionally, soil analysis revealed H5 treatment significantly decreased the total salt (9.33%) and electrical conductivity (8.09%), while significantly improving organic matter content (11.19%) and total nitrogen content (10.81%), respectively (p < 0.05). Inoculation of strain H5 induced taxonomic and functional shifts in the rhizosphere microbial community, increasing the relative abundance of microorganisms associated with plant growth-promoting and carbon and nitrogen cycles, and reduced the relative abundance of the genera Alternaria (15.14%) and Fusarium (9.76%), which are closely related to tomato diseases (p < 0.05). Overall, this strain exhibits significant potential in alleviating abiotic stress, enhancing growth, improving disease resistance, and optimizing soil microecological conditions in tomato plants. These results provide a valuable microbial resource for saline soil remediation and utilization. Full article
(This article belongs to the Section Plant Microbe Interactions)
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18 pages, 2433 KiB  
Article
Effect of Preharvest Aluminum-Coated Paper Bagging on Postharvest Quality, Storability, and Browning Behavior of ‘Afrata Volou’ Quince
by Triantafyllia Georgoudaki, Persefoni Maletsika and George D. Nanos
Horticulturae 2025, 11(8), 881; https://doi.org/10.3390/horticulturae11080881 - 30 Jul 2025
Viewed by 295
Abstract
As consumer preferences tend toward safer, chemical residue-free, and nutritionally rich fruits, preharvest bagging has gained attention as a sustainable method for improving fruit quality and protecting produce from environmental and biological stressors and pesticide residues. This study assessed the impact of preharvest [...] Read more.
As consumer preferences tend toward safer, chemical residue-free, and nutritionally rich fruits, preharvest bagging has gained attention as a sustainable method for improving fruit quality and protecting produce from environmental and biological stressors and pesticide residues. This study assessed the impact of preharvest bagging using paper bags with inner aluminum coating on the physicochemical traits, storability, and browning susceptibility after cutting or bruising of ‘Afrata Volou’ quince (Cydonia oblonga Mill.) fruit grown in central Greece. Fruits were either bagged or left unbagged approximately 60 days before harvest, and evaluations were conducted at harvest and after three months of cold storage, plus two days of shelf-life. Fruit bagging reduced the quince’s flesh temperature on the tree crown. Bagging had minor effects on fruit and nutritional quality, except for more yellow skin and higher titratable acidity (TA). Also, at harvest, bagging did not significantly affect fruit flesh browning after cutting or bruising. After three months of storage, unbagged and bagged quince fruit developed more yellow skin color, without significant alterations in most quality characteristics and nutritional value, but increased total tannin content (TTC). After three months of storage, the quince flesh color determined immediately after cutting or bruising was brighter and more yellowish compared to that at harvest, due to continuation of fruit ripening, but it darkened faster with time after cutting or skin removal. Therefore, fruit bagging appears to be a sustainable practice for improving the aesthetic and some chemical quality characteristics of quince, particularly after storage, without negative impacts on other characteristics such as texture and phenolic content. Full article
(This article belongs to the Special Issue Advances in Tree Crop Cultivation and Fruit Quality Assessment)
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20 pages, 3810 KiB  
Article
Exploring Drought Response: Machine-Learning-Based Classification of Rice Tolerance Using Root and Physiological Traits
by Wuttichai Gunnula, Nantawan Kanawapee, Hathairat Chokthaweepanich and Piyaporn Phansak
Agronomy 2025, 15(8), 1840; https://doi.org/10.3390/agronomy15081840 - 29 Jul 2025
Viewed by 380
Abstract
Drought is a key limitation for rice productivity. While oxidative stress markers like hydrogen peroxide (H2O2) are important for drought adaptation, the predictive value of combining root anatomical and physiological traits is underexplored. We assessed 20 rice cultivars under [...] Read more.
Drought is a key limitation for rice productivity. While oxidative stress markers like hydrogen peroxide (H2O2) are important for drought adaptation, the predictive value of combining root anatomical and physiological traits is underexplored. We assessed 20 rice cultivars under drought and control conditions using a random forest, a multi-layer perceptron, and a SHAP-optimized stacking ensemble. The stacking ensemble achieved the highest classification accuracy (81.8%) and identified hydrogen peroxide, relative water content, and endodermis inner circumference as key predictors. SHAP analysis revealed important interactions between root anatomical and physiological traits, providing new biological insights into drought tolerance. Our integrative approach, supported by robust cross-validation, improves predictive power and transparency for breeding drought-resilient rice cultivars. Full article
(This article belongs to the Section Precision and Digital Agriculture)
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19 pages, 1260 KiB  
Review
Structural Variants: Mechanisms, Mapping, and Interpretation in Human Genetics
by Shruti Pande, Moez Dawood and Christopher M. Grochowski
Genes 2025, 16(8), 905; https://doi.org/10.3390/genes16080905 - 29 Jul 2025
Viewed by 328
Abstract
Structural variations (SVs) represent genomic variations that involve breakage and rejoining of DNA segments. SVs can alter normal gene dosage, lead to rearrangements of genes and regulatory elements within a topologically associated domain, and potentially contribute to physical traits, genomic disorders, or complex [...] Read more.
Structural variations (SVs) represent genomic variations that involve breakage and rejoining of DNA segments. SVs can alter normal gene dosage, lead to rearrangements of genes and regulatory elements within a topologically associated domain, and potentially contribute to physical traits, genomic disorders, or complex traits. Recent advances in sequencing technologies and bioinformatics have greatly improved SV detection and interpretation at unprecedented resolution and scale. Despite these advances, the functional impact of SVs, the underlying SV mechanism(s) contributing to complex traits, and the technical challenges associated with SV detection and annotation remain active areas of research. This review aims to provide an overview of structural variations, their mutagenesis mechanisms, and their detection in the genomics era, focusing on the biological significance, methodologies, and future directions in the field. Full article
(This article belongs to the Special Issue Detecting and Interpreting Structural Variation in the Human Genome)
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14 pages, 2347 KiB  
Article
Linking Life History Traits to the Threat Level of European Freshwater Fish
by Olga Petriki and Dimitra C. Bobori
Water 2025, 17(15), 2254; https://doi.org/10.3390/w17152254 - 29 Jul 2025
Viewed by 230
Abstract
Over 40% of freshwater fish species in Europe are currently at risk of extinction, highlighting the need for improved conservation planning. This study examines whether the threat status is associated with life-history and ecological traits across 580 autochthonous (native and endemic) freshwater fish [...] Read more.
Over 40% of freshwater fish species in Europe are currently at risk of extinction, highlighting the need for improved conservation planning. This study examines whether the threat status is associated with life-history and ecological traits across 580 autochthonous (native and endemic) freshwater fish species in European inland waters. Using data from FishBase and the IUCN Red List, we assessed associations between threat level and both categorical (e.g., migratory behavior, commercial importance, reproductive guild, and body shape) and numerical traits (e.g., maximum length, weight, age, growth parameters, and maturity traits). Significant, though modest, associations were identified between species threat level and migratory behavior and reproductive guild. Non-migratory species exhibited higher median threat levels, while amphidromous species showed a non-significant trend toward higher threat, suggesting that limited dispersal ability and dependence on fragmented freshwater networks may increase extinction vulnerability. Species with unclassified reproductive strategies also showed elevated threat levels, possibly reflecting both actual risk and underlying data gaps. In contrast, body shape and trophic level were not significantly associated with threat status. Critically Endangered species tend to be larger, heavier, and mature later—traits characteristic of slow life history strategies that limit population recovery. Although length at maturity and maximum age did not differ significantly among IUCN categories, age at maturity was significantly higher in more threatened species, and growth rate (K) was negatively correlated with threat level. Together, these patterns suggest that slower-growing, later-maturing species face elevated extinction risk. Overall, the findings underscore that the threat level in European freshwater fish is shaped by complex interactions between intrinsic biological traits and external pressures. Trait-based approaches can enhance extinction risk assessments and conservation prioritization, especially in data-deficient freshwater ecosystems facing multifaceted environmental challenges. Full article
(This article belongs to the Section Biodiversity and Functionality of Aquatic Ecosystems)
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25 pages, 2098 KiB  
Review
Recent Advances in Experimental Functional Characterization of GWAS Candidate Genes in Osteoporosis
by Petra Malavašič, Jasna Lojk, Marija Nika Lovšin and Janja Marc
Int. J. Mol. Sci. 2025, 26(15), 7237; https://doi.org/10.3390/ijms26157237 - 26 Jul 2025
Viewed by 427
Abstract
Osteoporosis is a multifactorial, polygenic disease characterized by reduced bone mineral density (BMD) and increased fracture risk. Genome-wide association studies (GWASs) have identified numerous loci associated with BMD and/or bone fractures, but functional characterization of these target genes is essential to understand the [...] Read more.
Osteoporosis is a multifactorial, polygenic disease characterized by reduced bone mineral density (BMD) and increased fracture risk. Genome-wide association studies (GWASs) have identified numerous loci associated with BMD and/or bone fractures, but functional characterization of these target genes is essential to understand the biological mechanisms underlying osteoporosis. This review focuses on current methodologies and key examples of successful functional studies aimed at evaluating gene function in osteoporosis research. Functional evaluation typically follows a multi-step approach. In silico analyses using omics datasets expression quantitative trait loci (eQTLs), protein quantitative trait loci (pQTLs), and DNA methylation quantitative trait loci (mQTLs) help prioritize candidate genes and predict relevant biological pathways. In vitro models, including immortalized bone-derived cell lines and primary mesenchymal stem cells (MSCs), are used to explore gene function in osteogenesis. Advanced three-dimensional culture systems provide additional physiological relevance for studying bone-related cellular processes. In situ analyses of patient-derived bone and muscle tissues offer validation in a disease-relevant context, while in vivo studies using mouse and zebrafish models enable comprehensive assessment of gene function in skeletal development and maintenance. Integration of these complementary methodologies helps translate GWAS findings into biological insights and supports the identification of novel therapeutic targets for osteoporosis. Full article
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24 pages, 1857 KiB  
Review
The Evolution of Plant Hormones: From Metabolic Byproducts to Regulatory Hubs
by Jasmina Kurepa and Jan Smalle
Int. J. Mol. Sci. 2025, 26(15), 7190; https://doi.org/10.3390/ijms26157190 - 25 Jul 2025
Viewed by 175
Abstract
As sessile organisms, plants adapt to environmental challenges through flexible developmental and physiological programs. Hormones play a central role in this adaptability, integrating environmental signals into coordinated responses that regulate growth and stress tolerance. Comparative studies across photosynthetic lineages reveal that several core [...] Read more.
As sessile organisms, plants adapt to environmental challenges through flexible developmental and physiological programs. Hormones play a central role in this adaptability, integrating environmental signals into coordinated responses that regulate growth and stress tolerance. Comparative studies across photosynthetic lineages reveal that several core hormone functions are remarkably conserved, despite major evolutionary changes in hormone perception, biosynthesis, metabolism, and transport. This conservation suggests that plant hormones have played a pivotal evolutionary role—not only preserving essential biological functions but also enabling increased complexity in plant form and function. A similar dual role is observed in evolutionary endocrinology in animals, where hormones contribute to the emergence and regulation of complex traits. We propose that hormones such as cytokinins, auxins, brassinosteroids, strigolactones, and abscisic acid originated as metabolic derivatives closely tied to core physiological functions essential for survival and reproduction, including reproductive success, nutrient sensing, and dehydration tolerance. Over time, these compounds were progressively integrated into increasingly sophisticated regulatory networks, where they now serve as central coordinators and key targets of evolutionary selection. This model advances our understanding of hormone evolution by providing a structured framework to interpret the persistence, specialization, and integration of plant hormones across evolutionary timescales. Full article
(This article belongs to the Special Issue Advances in Plant Metabolite Research)
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