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Keywords = multiple-phenotype analysis

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17 pages, 4890 KB  
Article
Agro-Morphological Traits, Proximate Composition, and Phenotypic Plasticity of Coffea arabica in Contrasting and Very Close Environments in Northern Peru
by Ligia García, Jaris Veneros, Carlos Bolaños-Carriel, Grobert A. Guadalupe, Heyton Garcia, Roberto Carlos Mori-Zabarburú and Segundo G. Chavez
Agronomy 2025, 15(11), 2465; https://doi.org/10.3390/agronomy15112465 - 23 Oct 2025
Abstract
Coffee is one of Peru’s most important agricultural commodities, and its productivity is highly influenced by environmental variability. This study aimed to evaluate agro-morphological traits, proximate bean composition, and the phenotypic plasticity index (PPI) of Coffea arabica (Catimor variety) cultivated in three neighboring [...] Read more.
Coffee is one of Peru’s most important agricultural commodities, and its productivity is highly influenced by environmental variability. This study aimed to evaluate agro-morphological traits, proximate bean composition, and the phenotypic plasticity index (PPI) of Coffea arabica (Catimor variety) cultivated in three neighboring provinces of Piura: Ayabaca, Huancabamba, and Morropón. Unlike previous studies that broadly compare distant regions, this research focuses on geographically close yet climatically contrasting environments, providing new insight into how microclimatic and edaphic variability shape both morphological and chemical traits. A total of 300 plants were sampled, and 12 morphological descriptors were recorded alongside proximate composition analyses of moisture, crude protein, fiber, ash, fat, and carbohydrates. Multivariate approaches, including cluster analysis, multiple correspondence analysis, and Pearson correlations, were applied to determine groupings and trait associations. Results indicated that 12 morphological variables consistently reflected species-specific descriptors, forming two statistical groups, with Morropón showing the greatest homogeneity. Significant differences (p ≤ 0.05) were observed in the proximate composition of most variables, except for crude fiber and carbohydrates. Morropón beans showed the highest fat and moisture values, while Huancabamba had elevated protein and ash levels. Morphological traits exhibited higher plasticity (PPI = 0.70) compared with proximate traits (PPI = 0.21). These findings reveal that even within short spatial distances, coffee plants exhibit marked phenotypic differentiation driven by local environmental factors, offering a novel, fine-scale perspective on trait variability relevant to breeding and adaptation studies under changing climatic conditions. Full article
(This article belongs to the Section Horticultural and Floricultural Crops)
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17 pages, 2917 KB  
Article
Terminalia chebula Retz. Fruit Extract Promotes Murine Hair Growth by Suppressing 5α-Reductase and Accelerating the Degradation of Dihydrotestosterone
by Ting Cui, Xiaoqing Wang, Qi Wu, Ye Zhong, Fenglou Wang, Yue Zou, Yushu Wang, Shanshan Jiang and Gang Ma
Biomedicines 2025, 13(11), 2584; https://doi.org/10.3390/biomedicines13112584 - 22 Oct 2025
Abstract
Background/Objectives: Androgenetic alopecia (AGA) is the most common hair loss disorder in dermatological practice. Its primary pathogenesis involves the conversion of testosterone to dihydrotestosterone (DHT) by type II 5α-reductase upon reaching dermal papilla cells (DPCs). DHT impairs DPCs’ activity and inhibits hair growth. [...] Read more.
Background/Objectives: Androgenetic alopecia (AGA) is the most common hair loss disorder in dermatological practice. Its primary pathogenesis involves the conversion of testosterone to dihydrotestosterone (DHT) by type II 5α-reductase upon reaching dermal papilla cells (DPCs). DHT impairs DPCs’ activity and inhibits hair growth. Although the FDA-approved drugs finasteride and minoxidil show certain efficacy, they are also associated with severe side effects. This study aims to explore the effects of Terminalia chebula fruit extract (TCFE) on hair growth and its underlying molecular mechanisms. Methods: We investigated the therapeutic potential of TCFE in hair follicle regeneration, employing a multi-level experimental approach combining in vitro analyses of DPCs, in vivo animal models of AGA, and ex vivo cultures of human hair follicles and scalp tissue. Results: First, RNA-seq analysis and RT-PCR validation revealed that TCFE treatment activated the Wnt and TGF-β3 signaling pathways in DPCs, particularly upregulating the AKR1C gene family, which is involved in DHT metabolism. TCFE also potently inhibited type II 5α-reductase activity and mitigated DHT-induced damage to DPCs. In an AGA mouse model, TCFE reversed the AGA phenotype with efficacy comparable to finasteride. However, unlike finasteride, TCFE specifically enhanced the expression of AKR1C1 and AKR1C3, indicating a distinct mechanism. Finally, in ex vivo organ cultures, TCFE suppressed hair follicle cell apoptosis, promoted proliferation, and thereby stimulated hair growth. Conclusions: These findings suggest that TCFE is a promising natural treatment for AGA, likely acting through multiple mechanisms, including Wnt pathway activation, 5α-reductase inhibition, and enhanced DHT degradation. Full article
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17 pages, 5839 KB  
Article
Cryptic Diversity and Ecological Overlap in Sporothrix schenckii: Insights from Multilocus Phylogenetics of Clinical and Environmental Isolates
by Carolina Brunner-Mendoza, Anderson Messias Rodrigues, Esperanza Duarte-Escalante, María del Rocío Reyes-Montes, Amelia Pérez-Mejía, Hortensia Navarro-Barranco, María del Carmen Calderón-Ezquerro and Conchita Toriello
J. Fungi 2025, 11(11), 759; https://doi.org/10.3390/jof11110759 - 22 Oct 2025
Abstract
Sporothrix schenckii is a pathogenic fungus with both clinical and environmental origins that was traditionally described as a single species but is increasingly recognized as being genetically diverse. In this study, we analyzed multiple isolates recovered from human sporotrichosis cases and environmental sources [...] Read more.
Sporothrix schenckii is a pathogenic fungus with both clinical and environmental origins that was traditionally described as a single species but is increasingly recognized as being genetically diverse. In this study, we analyzed multiple isolates recovered from human sporotrichosis cases and environmental sources across Latin America (Mexico, Guatemala, Colombia). We conducted a polyphasic analysis of 16 isolates, integrating morphological data with multilocus sequence analysis (MLSA) targeting the internal transcribed spacer (ITS), calmodulin (CAL), β-tubulin (BT2), and translation elongation factor 1-α (TEF) gene regions. Phylogenetic relationships were resolved via maximum likelihood, and genetic structure was corroborated via four independent clustering methods: minimum spanning tree, principal component analysis, multidimensional scaling, and self-organizing maps. MLSA reidentified six isolates as S. globosa and confirmed the absence of S. brasiliensis in the cohort. The remaining S. schenckii s. str. isolates were resolved into three clades (A, B, and C). Notably, clade B (EH748, EH194, and EH257) formed a genetically divergent cluster with the highest nucleotide diversity (π = 0.03556) and was consistently segregated by all clustering algorithms. Clinical and environmental isolates were phylogenetically intermingled, supporting an active environmental reservoir for human infections. Phenotypic data, including colony size and conidial and yeast dimensions, varied but did not clearly distinguish between clinical and environmental origins. Our study provides compelling molecular evidence for a previously unrecognized, highly divergent clade within S. schenckii s. str., indicative of ongoing cryptic speciation. These findings refine the taxonomy of medically important Sporothrix species and reveal a distinct epidemiological profile for sporotrichosis in the studied regions, separate from the S. brasiliensis-driven epizootic. This highlights the critical role of molecular surveillance for accurate diagnosis, treatment, and public health strategies. Full article
(This article belongs to the Section Fungal Evolution, Biodiversity and Systematics)
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15 pages, 1143 KB  
Article
Adaptability and Phenotypic Stability of Early-Maturing Cowpea (Vigna unguiculata (L.) Walp.) Lines in the Peruvian Amazon
by Rodrigo Gonzales, César Augusto Ticona-Benavente, José Ramirez-Chung, Johnny Campos-Cedano and José Jesús Tejada-Alvarado
Int. J. Plant Biol. 2025, 16(4), 120; https://doi.org/10.3390/ijpb16040120 - 22 Oct 2025
Abstract
This study evaluated the suitability of three floodplain environments near Iquitos for cowpea cultivar recommendations and estimated the adaptability and phenotypic stability of 12 cowpea lines evaluated in 2004. Climatic conditions between 2004 and 2020–2024 were also compared. Three field trials used a [...] Read more.
This study evaluated the suitability of three floodplain environments near Iquitos for cowpea cultivar recommendations and estimated the adaptability and phenotypic stability of 12 cowpea lines evaluated in 2004. Climatic conditions between 2004 and 2020–2024 were also compared. Three field trials used a randomized complete block design with 12 lines and two replications, assessing grain yield, number of pods per plant, days to flowering, days to 50% maturity, and days to harvest. Combined Analysis of Variance (ANOVA), Duncan’s means test, Genotype + Genotype Environment Interaction (GGE) biplot, and Additive Main Effects and Multiplicative Interactions Interaction (AMMI) analyses revealed that the three sites are contrasting. The Annicchiarico index, GGE biplot, and AMMI analyses identified line CAR 3010 as having superior adaptability and stability. Paired t-tests and Mann–Kendall analyses showed that climatic conditions in 2020–2024 differed significantly from 2004. Therefore, Muyuy, Rafael Belaunde, and San Miguel are suitable locations for testing advanced cowpea lines prior to cultivar recommendation. Line CAR 3010 is recommended for breeding programs in the Peruvian Amazon in response to ongoing climate change. This research addresses a critical knowledge gap as the first study evaluating cowpea adaptability and stability across multiple floodplain locations in the Peruvian Amazon. Full article
(This article belongs to the Section Plant Biochemistry and Genetics)
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7 pages, 1648 KB  
Case Report
Atypical Liver Ultrasound Image in a Boy with Autosomal Recessive Polycystic Kidney Disease (ARPKD) and New PKD1 Variant—A Case Report
by Agnieszka Turczyn, Grażyna Krzemień and Dominik Nguyen
Genes 2025, 16(11), 1244; https://doi.org/10.3390/genes16111244 - 22 Oct 2025
Abstract
Background: Autosomal recessive polycystic kidney disease (ARPKD) is a rare form of PKD that leads to the development of multiple renal cysts and hepatic fibrosis. Aim: The first documented case of large hepatic cyst associated with dual PKHD1-PKD1 variants. Case report [...] Read more.
Background: Autosomal recessive polycystic kidney disease (ARPKD) is a rare form of PKD that leads to the development of multiple renal cysts and hepatic fibrosis. Aim: The first documented case of large hepatic cyst associated with dual PKHD1-PKD1 variants. Case report: We present the case of a 5-year-old boy with a kidney US image typical of ARPKD and numerous large cysts in the liver not typical for this disease. Genetic analysis revealed heterozygous missense mutations in the PKHD1 gene (maternally, c.107C>T/p.Thr36Met in exon 3; paternally, c.4870C>T/p.Arg1624Rrp in exon 32) and an additional new variant in PKD1 (maternally, c.5323G>A/p.Gly1775Ser in exon 32). Genetic tests excluded mutations in genes responsible for polycystic liver disease (PCLD). However, the presence of the PKD1 mutation is clinically not clear due to the normal abdominal US image in the mother; it seems to be the most likely explanation for unusual phenotype in our patient. Conclusions: This case may contribute to the understanding of the phenotypic variability in ARPKD and the potential modifying role of mutations in other PKD-related genes. Comprehensive genetic panels are crucial for explaining atypical phenotypes and prognosis in patients with PKD. Full article
(This article belongs to the Special Issue Genetics and Genomics of Heritable Pediatric Disorders)
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17 pages, 4937 KB  
Perspective
Unraveling Stuttering Through a Multi-Omics Lens
by Deyvid Novaes Marques
Life 2025, 15(10), 1630; https://doi.org/10.3390/life15101630 - 19 Oct 2025
Viewed by 220
Abstract
Stuttering, a complex and multifactorial speech disorder, has long presented an enigma regarding its etiology. While earlier approaches often emphasized psychosocial influences, historical clinical and speech-language strategies have considered multiple contributing factors. By integrating genomic, transcriptomic and phenomic evidence, the ongoing research illustrates [...] Read more.
Stuttering, a complex and multifactorial speech disorder, has long presented an enigma regarding its etiology. While earlier approaches often emphasized psychosocial influences, historical clinical and speech-language strategies have considered multiple contributing factors. By integrating genomic, transcriptomic and phenomic evidence, the ongoing research illustrates how functional genomics can unravel the biological architecture of complex speech disorders. In particular, advances in omic technologies have unequivocally positioned genetics and underlying biological pathways at the forefront of stuttering research. I have experienced stuttering and lived with it since my early childhood. This perspective article presents findings from omic studies, highlighting relevant aspects such as gene discoveries, implicated cellular mechanisms, and the intricate genetic architecture of developmental stuttering. As a person who stutters, I offer an intimate perspective on how these scientific insights are not merely academic but profoundly impactful for the affected community. A multi-omic integration strategy, combining large-scale genetic discovery with deep phenotyping and functional validation, is advocated to accelerate understanding in this field. Additionally, a bibliometric analysis using an international database was conducted to map trends and identify directions in stuttering research within the omic context. Ultimately, these scientific endeavors hold the potential to inform not only personalized interventions but also critical policy and regulatory changes, enhancing accessibility, support, and the recognized rights of people who stutter. Full article
(This article belongs to the Special Issue Recent Advances in Functional Genomics)
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13 pages, 912 KB  
Article
Environmental Surveillance of ESKAPE Bacteria in Wastewater and Rivers in the Vhembe District, South Africa: Public Health Risks from a One Health Perspective
by Natasha Potgieter, Mpumelelo Casper Rikhotso, Leonard Owino Kachienga, Rohudzwa Badzhi and Afsatou Ndama Traoré
Water 2025, 17(20), 2999; https://doi.org/10.3390/w17202999 - 18 Oct 2025
Viewed by 164
Abstract
The One Health approach is used to assess health-associated risks resulting from human exposure to antibiotic-resistant bacteria (ARB) that pose a significant public health risk. In this approach, wastewater treatment plants (WWTPs) play an important role in reducing bacteria and antibiotic-resistant genes (ARGs) [...] Read more.
The One Health approach is used to assess health-associated risks resulting from human exposure to antibiotic-resistant bacteria (ARB) that pose a significant public health risk. In this approach, wastewater treatment plants (WWTPs) play an important role in reducing bacteria and antibiotic-resistant genes (ARGs) in the environment. The ESKAPE (Enterococcus faecium, Staphylococcus aureus, Klebsiella pneumoniae, Acinetobacter baumannii, Pseudomonas aeruginosa, and Enterobacter spp.) are of significant concern due to their ability to evade the effects of multiple antibiotics, including last-resort treatments such as carbapenems and glycopeptides. This study aimed to investigate the environmental surveillance of ESKAPE bacteria in wastewater and their adjacent receiving water bodies in Limpopo Province, South Africa. Methodology: Over a period of 6 months, all isolates were identified phenotypically, and genomic DNA was extracted using the QIAamp 96 DNA QIAcube® HT Kit. Species-specific PCR was performed, followed by Sanger sequencing. The relevant sequences were compared to NCBI GenBank references using BLAST for confirmation and to assess the potential human health-associated risks. Results: ESKAPE organisms identified phenotypically were confirmed using PCR in both WWTP samples. Bacteria such as Acinetobacter baumannii and Enterobacter spp. were not detected in upstream or downstream river samples, particularly during August and September. In December and January, Staphylococcus aureus, Klebsiella pneumoniae, Acinetobacter baumannii, and Pseudomonas aeruginosa were not detected in effluent samples at both sites. Phylogenetic analysis revealed a diverse range of clinically significant genera, including Pseudomonas, Klebsiella, Enterobacter, and Staphylococcus, with strains closely related to global clinical isolates. Many of the isolates were associated with resistance to carbapenems, fluoroquinolones, and aminoglycosides. In addition, some strains clustered with both methicillin-sensitive and methicillin-resistant lineages. Conclusions: The findings emphasise the urgent need for increased genomic surveillance in environmental settings affected by wastewater discharge and highlight the importance of integrated antimicrobial resistance monitoring that connects clinical and environmental health sectors. Full article
(This article belongs to the Section Water and One Health)
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13 pages, 1418 KB  
Article
Investigating the “Dark” Genome: First Report of Partington Syndrome in Cyprus
by Constantia Aristidou, Athina Theodosiou, Pavlos Antoniou, Angelos Alexandrou, Ioannis Papaevripidou, Ludmila Kousoulidou, Pantelitsa Koutsou, Anthi Georghiou, Türem Delikurt, Elena Spanou, Nicole Salameh, Paola Evangelidou, Kyproula Christodoulou, Alain Verloes, Violetta Christophidou-Anastasiadou, George A. Tanteles and Carolina Sismani
Genes 2025, 16(10), 1224; https://doi.org/10.3390/genes16101224 - 15 Oct 2025
Viewed by 304
Abstract
Background/Objectives: X-linked intellectual disability (XLID) is a highly heterogeneous disorder accounting for ~10% of all males with ID. Next-generation sequencing (NGS) has revolutionized the discovery of causal XLID genes and variants; however, many cases remain unresolved. We present a four-generation syndromic XLID [...] Read more.
Background/Objectives: X-linked intellectual disability (XLID) is a highly heterogeneous disorder accounting for ~10% of all males with ID. Next-generation sequencing (NGS) has revolutionized the discovery of causal XLID genes and variants; however, many cases remain unresolved. We present a four-generation syndromic XLID family with multiple males exhibiting variable degree of ID, focal dystonia and epilepsy. Methods: Extensive cytogenetic and targeted genetic testing was initially performed, followed by whole-exome sequencing (WES) and short-read whole-genome sequencing (WGS). Apart from the routine NGS analysis pipelines, sequencing data was revisited by focusing on poorly covered/mapped regions on chromosome X (chrX), to potentially reveal unidentified clinically relevant variants. Candidate variant validation and family segregation analysis were performed with Sanger sequencing. Results: All initial diagnostic testing was negative. Subsequently, 300 previously reported “dark” chrX coding DNA sequences, overlapping 97 genes, were cross-checked against 29 chrX genes highly associated (p < 0.05) with ID and focal dystonia, according to Phenomizer. Manual inspection of the existing NGS data in two low-coverage regions, chrX:25013469-25013696 and chrX:111744737-111744820 (hg38), revealed a recurrent pathogenic ARX variant NM_139058.3:c.441_464dup p.(Ala148_Ala155dup) (ARXdup24) associated with non-syndromic or syndromic XLID, including Partington syndrome. Sanger sequencing confirmed ARXdup24 in all affected males, with carrier status in their unaffected mothers, and absence in other unaffected relatives. Conclusions: After several years of diagnostic odyssey, the pathogenic ARXdup24 variant was unmasked, supporting a genotype–phenotype correlation in the first Partington syndrome family in Cyprus. This study highlights that re-examining underrepresented genomic regions and using phenotype-driven tools can provide critical diagnostic insights in unresolved XLID cases. Full article
(This article belongs to the Special Issue Molecular Basis and Genetics of Intellectual Disability)
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27 pages, 4953 KB  
Article
Genome-Wide Analysis and Functional Correlation of Tomato JAZ Genes Under Tuta absoluta Infestation and Nanoparticle-Induced Defense
by Inzamam Ul Haq, Abdul Basit, Moazam Hyder, Mirza Naveed Shahzad, Asim Abbasi, Yasir Sharif, Muhammad Adeel Ghafar, Xiangyun Cai, Nazih Y. Rebouh and Youming Hou
Insects 2025, 16(10), 1046; https://doi.org/10.3390/insects16101046 - 13 Oct 2025
Viewed by 533
Abstract
Tomato (Solanum lycopersicum) production is increasingly threatened by Tuta absoluta, a destructive pest that compromises yield and quality. To explore sustainable alternatives to conventional insecticides, we investigated the jasmonate-mediated defense pathway by performing a genome-wide characterization of the JAZ gene [...] Read more.
Tomato (Solanum lycopersicum) production is increasingly threatened by Tuta absoluta, a destructive pest that compromises yield and quality. To explore sustainable alternatives to conventional insecticides, we investigated the jasmonate-mediated defense pathway by performing a genome-wide characterization of the JAZ gene family in S. lycopersicum. A total of 39 SlJAZ genes were identified and mapped to 12 chromosomes. Detailed analysis revealed conserved motifs, diverse exon–intron structures, four major phylogenetic groups, and the presence of multiple MeJA- and stress-responsive cis-elements. Synteny analysis indicated gene duplication events and evolutionary conservation with Arabidopsis and potato. Small RNA predictions suggested that 33 SlJAZ genes are targeted by 69 microRNAs, implying multilayered regulation. Transcriptome analysis under four treatment conditions—mesoporous silica nanoparticles (MSNs) ± pest infestation—revealed 21 differentially expressed SlJAZ genes. SlJAZ1, SlJAZ19, SlJAZ20, and SlJAZ22 were notably upregulated under the combined MSN and pest treatment, with expression patterns validated by qRT-PCR (R2 = 0.92). Phenotypic assessment of leaf damage index, larval survival rate, and number of leaf mines showed reduced pest activity in MSN-treated plants. Regression analysis demonstrated significant negative correlations between expression levels of SlJAZ20, SlJAZ26, and SlJAZ29 and pest-related damage traits. These findings indicate that MSNs function as effective elicitors of JA-responsive defense in tomato and modulate the expression of specific JAZ genes linked to enhanced resistance. The study provides a valuable foundation for integrating nanotechnology with molecular defense strategies to promote sustainable pest management. Full article
(This article belongs to the Special Issue Research on Insect Molecular Biology)
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32 pages, 12229 KB  
Article
Shared Plasma Metabolites Mediate Causal Effects of Metabolic Diseases on Colorectal Cancer: A Two-Step Mendelian Randomization Study
by Xinyi Shi, Yuxin Tang, Yu Zhang, Yu Cheng, Yingying Ma, Fangrong Yan and Tiantian Liu
Biomedicines 2025, 13(10), 2433; https://doi.org/10.3390/biomedicines13102433 - 6 Oct 2025
Viewed by 399
Abstract
Background: Colorectal cancer (CRC) is significantly associated with multiple metabolic diseases, with plasma metabolites potentially mediating this relationship. This large-scale metabolomics study aims to (1) quantify the genetic correlations and causal effects between 10 metabolic disease-related phenotypes and CRC risk; (2) identify [...] Read more.
Background: Colorectal cancer (CRC) is significantly associated with multiple metabolic diseases, with plasma metabolites potentially mediating this relationship. This large-scale metabolomics study aims to (1) quantify the genetic correlations and causal effects between 10 metabolic disease-related phenotypes and CRC risk; (2) identify the plasma metabolites mediating these effects; and (3) explore downstream regulatory genes and druggable targets. Methods: Using linkage disequilibrium score regression and two-sample Mendelian randomization, we assessed the causal relationships between each metabolic trait and CRC. A total of 1091 plasma metabolites and 309 metabolite ratios were identified and analyzed for mediating effects by a two-step MR approach. Colocalization analyses evaluated shared genetic loci. The findings were validated in the UK Biobank for metabolite-trait associations. The expression of candidate genes was explored using data from TCGA, GTEx, and GEO. A FADS1-centered protein–protein interaction (PPI) network was constructed via STRING. Results: BMI, waist circumference, basal metabolic rate, insulin resistance and metabolic syndrome exhibited both genetic correlation and causal effects on CRC. Five plasma metabolites—mannonate, the glucose/mannose ratio, plasma free asparagine, 1-linolenoyl-2-linolenoyl-GPC (18:2/18:3), and the mannose/trans-4-hydroxyproline ratio—were identified as shared central mediators. A colocalization analysis showed rs174546 linked CRC and 1-linolenoyl-2-linoleoyl-GPC. Validation in the UK Biobank confirmed the associations between phosphatidylcholine (the lipid class of this metabolite), adiposity measures, and CRC risk. An integrative analysis of TCGA, GTEx, and GEO revealed consistent upregulation of FADS1/2/3 and FEN1 in CRC, with high FADS1 expression predicting a poorer prognosis and showing the distinct cell-type expression in adipose and colon tissue. The PPI network mapping uncovered nine FADS1 interacting proteins targeted by supplements such as α-linolenic acid and eicosapentaenoic acid. Conclusions: This study systematically reveals, for the first time, the shared intermediary plasma metabolites and their regulatory genes in the causal pathway from metabolic diseases to CRC. These findings provide candidate targets for subsequent functional validation and biomarker development. Full article
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18 pages, 1779 KB  
Article
Blackgrass (Alopecurus myosuroides Huds.) Multiple Resistance to ACCase- and ALS-Inhibitors and Its Competition with Winter Wheat
by Aristeidis P. Papapanagiotou, Ioannis Vasilakoglou, Maria V. Alvanou, Ioannis A. Giantsis, Panagiotis Madesis and Ilias G. Eleftherohorinos
Genes 2025, 16(10), 1169; https://doi.org/10.3390/genes16101169 - 3 Oct 2025
Viewed by 332
Abstract
Background/Objectives: The herbicide resistance of blackgrass (Alopecurus myosuroides Huds.) is one of the most serious problems in the winter cereal monoculture in Europe. Recently, Greek farmers expressed complaints of reduced susceptibility of this weed to winter wheat herbicides. Keeping this in mind, [...] Read more.
Background/Objectives: The herbicide resistance of blackgrass (Alopecurus myosuroides Huds.) is one of the most serious problems in the winter cereal monoculture in Europe. Recently, Greek farmers expressed complaints of reduced susceptibility of this weed to winter wheat herbicides. Keeping this in mind, this study focused on the investigation of blackgrass resistance to herbicides at both phenotypic and molecular levels. Methods: Whole-plant rate-response pot assays were conducted to study the possible evolution of resistance (cross- or multiple-resistance) in a blackgrass population to ACCase- and ALS-inhibiting herbicides. Analysis of the ACCase gene sequence, herbicide metabolism study and competition with winter wheat studies were also conducted. Results: High levels of cross-resistance mainly to the ACCase post-emergence clodinafop-propargyl, medium to fenoxaprop-P-ethyl, cycloxydim, pinoxaden, as well as lower levels of resistance to ALS-inhibitors (mesosulfuron-methyl + iodosulfuron-methyl-sodium and pyroxsulam) were confirmed. In addition, the pre-emergence soil-applied herbicides chlorotoluron + diflufenican and prosulfocarb provided excellent control of the S and R blackgrass populations. The analysis of the ACCase gene sequence revealed a point mutation at position 1781, resulting in an amino acid substitution from isoleucine (Ile) to leucine (Leu). Furthermore, the combined application of the herbicides with piperonyl butoxide (PBO, applied 2 h before herbicide application) indicated that there was herbicide metabolism, which may be mediated by cytochrome P450. The R blackgrass population, when grown in competitive interaction with winter wheat, produced more tillers and aboveground fresh weight compared to the S population and caused greater reduction in winter wheat. Conclusions: The results suggest that a blackgrass population has developed multiple resistance to ACCase- and ALS-inhibiting herbicides, due to ACCase gene mutation and herbicide metabolism. No fitness cost and no compromised competitive ability associated with the blackgrass resistance were observed. Full article
(This article belongs to the Special Issue Forage and Grass Genetics and Genomics)
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23 pages, 1417 KB  
Article
Beyond the Curtains: Identification of the Genetic Cause of Foetal Developmental Abnormalities Through the Application of Molecular Autopsy
by Beatrice Spedicati, Giulia Pianigiani, Aurora Santin, Vanessa Rebecca Gasparini, Ilaria Falcomer, Agnese Feresin, Maria Teresa Bonati, Daniela Mazzà, Elisa Paccagnella, Domizia Pasquetti, Elisa Rubinato, Claudio Granata, Flora Maria Murru, Maurizio Pinamonti, Rossana Bussani, Ilaria Fantasia, Tamara Stampalija, Paolo Gasparini, Stefania Zampieri and Giorgia Girotto
Genes 2025, 16(10), 1167; https://doi.org/10.3390/genes16101167 - 2 Oct 2025
Viewed by 465
Abstract
Background: Foetal structural abnormalities can be detected in approximately 3% of all pregnancies and frequently remain without a genetic diagnosis. This study aims to apply an integrated approach with the final goal of providing a molecular diagnosis in the challenging Italian setting [...] Read more.
Background: Foetal structural abnormalities can be detected in approximately 3% of all pregnancies and frequently remain without a genetic diagnosis. This study aims to apply an integrated approach with the final goal of providing a molecular diagnosis in the challenging Italian setting of early termination of pregnancy. Methods: In a cohort of 86 foetuses, post-mortem dysmorphological examination, radiological assessments, and molecular autopsy through Whole-Exome Sequencing—WES—analysis were performed. Results: Forty-two foetuses were phenotypically classified as presenting a single major malformation (i.e., central nervous system, skeletal, urogenital, or cardiac anomalies, or fluid accumulation), while 44 foetuses presented multiple malformations and/or dysmorphic features. Overall, WES provided a diagnostic yield of 26.7%; additionally, seven Variants of Uncertain Significance (VUS) potentially liked to the foetal phenotype were identified. The highest detection rate was achieved for foetuses presenting a single major urogenital (50%) or skeletal (42.9%) malformation, followed by foetuses presenting multiple malformations (27.3%). Peculiar results of particular interest were (1) the identification of two splicing variants (within the INPPL1 and RHOA genes), functionally characterised through minigene assay, which contributed to evaluate their pathogenicity, and (2) the identification of a novel de novo missense ZNF292 variant (NM_015021.3:c.6325A>C p.(Ser2109Arg)) in a foetus affected by corpus callosum hypoplasia. The ZNF292 gene is associated with the Intellectual developmental disorder, autosomal dominant 64 and this finding represents the first report of prenatally detected anomalies of the central nervous system in a foetus carrying a ZNF292 variant. Conclusions: This study underlines the diagnostic utility of an integrated approach to achieve a precise genetic diagnosis for structural foetal abnormalities, thus providing families with precise recurrence risk estimations and detailed options about future pregnancies. Additionally, a systematic implementation of this strategy could be crucial to better characterise new variants and discover new genes involved in embryonic and foetal development. Full article
(This article belongs to the Section Human Genomics and Genetic Diseases)
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12 pages, 2893 KB  
Article
CRYAB Missense Mutation Reveals Shared Pathogenesis of Familial Cardiomyopathy and Arrhythmia
by Ali Nariman, Mohammad Hossein Nikoo, Nizal Sarrafzadegan, Mohammad Javad Zibanejad, Zahra Teimouri Jervekani, Karim Daliri and Mohammad Amin Tabatabaiefar
Genes 2025, 16(10), 1162; https://doi.org/10.3390/genes16101162 - 30 Sep 2025
Viewed by 341
Abstract
Background: Dilated cardiomyopathy (DCM) and long QT syndrome (LQTS) are genetically heterogeneous cardiac disorders that contribute significantly to morbidity and sudden cardiac death. Although they are typically considered distinct entities, co-occurrence within families has been increasingly recognized, complicating diagnosis and genetic counseling. [...] Read more.
Background: Dilated cardiomyopathy (DCM) and long QT syndrome (LQTS) are genetically heterogeneous cardiac disorders that contribute significantly to morbidity and sudden cardiac death. Although they are typically considered distinct entities, co-occurrence within families has been increasingly recognized, complicating diagnosis and genetic counseling. Identifying shared genetic determinants may provide insights into overlapping disease mechanisms. Methods: We investigated a multi-generational family in which several members presented with features of both DCM and LQTS. Exome sequencing was performed to identify potential disease-causing variants, and candidate findings were validated by Sanger sequencing. In silico prediction tools and evolutionary conservation analysis were used to assess the pathogenic potential of the identified variant. Results: We identified a novel heterozygous missense variant in the CRYAB gene, c.368G>A (p.Arg123Gln). This variant is located in a highly conserved region critical for protein function and was consistently predicted to be deleterious across multiple computational algorithms. Segregation analysis demonstrated co-occurrence of the variant with disease phenotypes in affected family members. Clinically, several carriers exhibited overlapping features of both DCM and prolonged QT interval, suggesting a dual cardiac phenotype associated with this mutation. Conclusions: Our findings expand the phenotypic spectrum associated with CRYAB mutations, linking them to a combined presentation of dilated cardiomyopathy and long QT syndrome. This underscores the importance of including CRYAB in comprehensive gene panels for inherited cardiac disorders and highlights the need for integrated clinical and genetic evaluation in families presenting with complex cardiac phenotypes. Full article
(This article belongs to the Section Molecular Genetics and Genomics)
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17 pages, 2022 KB  
Article
Genotype-by-Environment Interaction Stability Analysis of New Quinoa (Chenopodium quinoa Willd.) Varieties in the Mediterranean Zone of Chile
by Pablo Olguín, Samuel Contreras, Claudia Rojas and Francisco Fuentes
Plants 2025, 14(19), 3007; https://doi.org/10.3390/plants14193007 - 28 Sep 2025
Viewed by 434
Abstract
Quinoa (Chenopodium quinoa Willd.), a crop native to the Andean region, exhibits variable performance in yield components under rainfed Mediterranean conditions. Consequently, identifying varieties that demonstrate stability in key agronomic traits—regardless of environmental fluctuations—is essential for enhancing crop reliability and productivity. In [...] Read more.
Quinoa (Chenopodium quinoa Willd.), a crop native to the Andean region, exhibits variable performance in yield components under rainfed Mediterranean conditions. Consequently, identifying varieties that demonstrate stability in key agronomic traits—regardless of environmental fluctuations—is essential for enhancing crop reliability and productivity. In this work, new five varieties belonging to the sea-level ecotype (Pangal, Nieves, Pincoya, Chucao and Regalona), with superior performance to local materials used by farmers in terms of uniformity, stability, yield characteristics, grain diameter, thousand-grain weight, protein percentage, and saponins, were established in three environments (Pichilemu 34°29′ S/72°01′ W, Coihueco 36°42′ S/72°42′ W, Cañete 37°51′ S/73°24′ W) during two consecutive seasons (2019/2020, 2020/2021). Data analysis confirmed narrow variability among the varieties analyzed and between season and environment in all characteristics evaluated. The Pichilemu area (close to the coast) was the most productive over the two years of cultivation studied, with grain yields reaching 2975 kg·ha−1. In the Cañete (coastal) and Coihueco (foothill) environments, grain yields were 2892 and 2453 kg·ha−1, respectively. The Pangal variety (pearl) had the highest grain yield, reaching 3162 kg·ha−1 in all environments. Nieves (white) variety had the best grain diameter (GD = 1.88 mm) and the best thousand-grain weight (TGW = 3.10 g). Regarding grain protein concentration, the Pincoya (black) variety had the highest score (GP = 16.31%). The lowest concentration of Saponin was obtained in Chucao (red) variety (GS = 1.46%). The Additive Main Effects and Multiplicative Interaction (AMMI) analysis did not identify any variety that exhibited greater yield and stability. Consequently, over the two years of study, the Nieves and Pangal varieties presented the best yield in the Pichilemu environment, with 3673 and 3788 kg·ha−1, respectively. These varieties also stood out in the Cañete environment as obtaining the best yields (3547 and 3169 kg·ha−1); however, they did not obtain the highest yield in the Coihueco environment. The Chucao variety was considered to have greater stability obtaining average yield in all study environments. This study presents a comprehensive phenotypic characterization of newly developed varieties, offering insights into their adaptive relationships with Mediterranean environments. To further elucidate the influence of environmental stressors on agronomic performance and grain quality traits, future trials are recommended in more extreme ecological settings. Full article
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14 pages, 2279 KB  
Article
Development of KASP Molecular Markers and Candidate Gene Mining for Heat Tolerance-Related Traits in Gossypium hirsutum
by Zhaolong Gong, Ni Yang, Shiwei Geng, Juyun Zheng, Zhi Liu, Fenglei Sun, Shengmei Li, Xueyuan Li, Yajun Liang and Junduo Wang
Genes 2025, 16(10), 1154; https://doi.org/10.3390/genes16101154 - 28 Sep 2025
Viewed by 412
Abstract
Background: High-temperature stress is one of the major abiotic stresses limiting cotton production. Identifying genetic loci and genes for heat tolerance is crucial for breeding heat-tolerant varieties. Methods: Given the complexity of heat tolerance phenotypes in cotton, this study, which focused [...] Read more.
Background: High-temperature stress is one of the major abiotic stresses limiting cotton production. Identifying genetic loci and genes for heat tolerance is crucial for breeding heat-tolerant varieties. Methods: Given the complexity of heat tolerance phenotypes in cotton, this study, which focused on resource materials, identified an A/C SNP mutation at position 5486185 on chromosome D06 within the heat tolerance interval through genome-wide association studies (GWAS) of natural Gossypium hirsutum populations. Results: A total of 308 resource materials were identified and evaluated for their heat tolerance phenotypes over two years of field research. Kompetitive allele-specific PCR (KASP) molecular markers were developed on the basis of the D06-5486185 SNP to characterize the heat tolerance phenotypes of these 308 resource materials. Genotyping for heat tolerance-related traits and agronomic traits was also performed. Materials with the C/C haplotype at position D06-5486185 presented increased heat tolerance (higher pollen viability (PV), leaf area (LA), chlorophyll (Chl) and number of bolls on the third fruit branch (FB3) and a lower number of dry buds (DBs) and drop rate (DR)) without negatively impacting key yield traits. This locus is located in the intergenic region of two adjacent bZIP transcription factor genes (GH_D06G0408 and GH_D06G0409). Expression analysis revealed that the expression levels of these two genes were significantly greater in heat-tolerant accessions (C/C type) than in sensitive accessions and that their expression levels were significantly correlated with multiple heat-tolerant phenotypes. Conclusions: In summary, this study developed a Kompetitive Allele Specific PCR (KASP) marker associated with heat tolerance in G. hirsutum and identified two key heat tolerance candidate genes. These results provide an efficient marker selection tool and important genetic resources for the molecular breeding of heat-tolerant G. hirsutum, laying an important foundation for further establishing a molecular marker-assisted breeding system for heat tolerance in G. hirsutum. Full article
(This article belongs to the Special Issue Genetic Research on Crop Stress Resistance and Quality Traits)
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