Genes最新文献

Background/Objectives: Chemical methods for quantifying resistant starch (RS) in rice are labor-intensive, costly, and lack high repeatability, creating a bottleneck in breeding. This study aimed to develop specific, codominant molecular markers for the Wx gene to enable rapid and accurate genotype screening for RS content, thereby accelerating the development of high-RS rice varieties. Methods: Based on sequence alignment of the Wx gene in rice varieties with divergent RS content, a key single-nucleotide polymorphism was targeted. Two sets of tetra-primer amplification refractory mutation system polymerase chain reaction (ARMS-PCR) markers, T-Wx9-RS1 and T-Wx9-RS2, were designed. These markers were used to genotype diverse rice varieties and F₄ segregating populations, with results validated against standard chemical assays. Results: Sequence analysis identified a critical T → C base mutation at position 202 of the ninth exon in high-RS varieties. The developed ARMS-PCR markers successfully and consistently distinguished all three possible genotypes (homozygous mutant, homozygous wild-type, and heterozygous). The genotyping results showed complete concordance with the phenotypes determined by chemical methods. Conclusions: The developed molecular markers, T-Wx9-RS1 and T-Wx9-RS2, provide a rapid, reliable, and cost-effective tool for marker-assisted selection of high resistant starch content in rice. Their implementation can significantly enhance screening efficiency and expedite the breeding pipeline for novel, nutritionally improved rice cultivars.

The quality and authenticity of DNA sequences have long been points of concern for molecular biologists and systematists [...].

We thank Dr. George Sangster and Dr. Jolanda A. Luksenburg for their careful assessment concerning the mitochondrial genome sequence of Haliastur indus (GenBank accession number: OP133375.1) [...].

Neurons have exceptionally high energy demands, sustained by thousands to millions of mitochondria per cell. Each mitochondrion depends on the integrity of its mitochondrial DNA (mtDNA), which encodes essential electron transport chain (ETC) subunits required for oxidative phosphorylation (OXPHOS). The continuous, high-level ATP production by OXPHOS generates reactive oxygen species (ROS) that pose a significant threat to the nearby mtDNA. To counter these insults, neurons rely on base excision repair (BER), the principal mechanism for removing oxidative and other small, non-bulky base lesions in nuclear and mtDNA. BER involves a coordinated enzymatic pathway that excises damaged bases and restores DNA integrity, helping maintain mitochondrial genome stability, which is vital for neuronal bioenergetics and survival. When mitochondrial BER is impaired, mtDNA becomes unstable, leading to ETC dysfunction and a self-perpetuating cycle of bioenergetic failure, elevated ROS levels, and continued mtDNA damage. Damaged mtDNA fragments can escape into the cytosol or extracellular space, where they act as damage-associated molecular patterns (DAMPs) that activate innate immune pathways and inflammasome complexes. Chronic activation of these pathways drives sustained neuroinflammation, exacerbating mitochondrial dysfunction and neuronal loss, and functionally links genome instability to innate immune signaling in neurodegenerative diseases. This review summarizes recent advancements in understanding how BER preserves mitochondrial genome stability, affects neuronal health when dysfunctional, and contributes to damage-driven neuroinflammation and neurodegenerative disease progression. We also explore emerging therapeutic strategies to enhance mtDNA repair, optimize its mitochondrial environment, and modulate neuroimmune pathways to counteract neurodegeneration.

Background/objectives: Atrial fibrillation (AF) is the most common sustained cardiac arrhythmia and represents a major public health problem. Genetic factors contribute to AF susceptibility, including variants associated with atrial remodeling.

Methods: This case-control study investigated the rs3903239 polymorphism of the PRRX1 gene in a Kazakh population. The main group included patients with AF (n = 75), the control group consisted of 2 subgroups: subgroup 1 (control group 1) included conditionally healthy patients (n = 73), subgroup 2 (control group 2) consisted of patients with arterial hypertension (AH) and coronary heart disease (CHD) without diagnosed AF at the time of inclusion in the study (n = 50). Genotype and allele frequencies were compared between patients with AF and two control groups. The frequency of the rs3903239 polymorphism genotypes of the PRRX1 gene in the main group and in the control groups was in the Hardy-Weinberg equilibrium.

Results: The frequency of the rare G allele (AG + GG genotypes) was higher in patients with AF compared with conditionally healthy controls; however, this difference did not reach statistical significance (OR 1.357; 95% CI 0.845-2.178).

Conclusions: The observed differences represent a non-significant trend and do not demonstrate a statistically confirmed association between the rs3903239 polymorphism of the PRRX1 gene and AF in the Kazakh population.

Background: Low-temperature stress represents a significant constraint on rice production, especially during the germination stage. Consequently, comprehending the mechanisms underlying cold tolerance is of utmost importance for the breeding of resilient rice varieties. This research systematically examined the phenotypic and physiological responses of a cold-tolerant cultivar (JND815) and a cold-sensitive cultivar (Jiyu Japonica) to low-temperature stress (15 °C) during the germination process.

Methods: Following a 17-day incubation period, physiological analyses were conducted. Transcriptomic analysis was performed to identify differentially expressed genes (DEGs), which were further subjected to KEGG enrichment analysis and Gene Ontology (GO) annotation. Additionally, the expression trends of selected cold-responsive DEGs were verified via qRT-PCR.

Results: Following a 17-day incubation period, physiological analyses indicated that, in comparison to the control group (28 °C), the stress treatment notably reduced the activities of superoxide dismutase (SOD) and catalase (CAT), while increasing the activity of peroxidase (POD) and the content of malondialdehyde (MDA). Significantly, JND815 accumulated a substantially lower amount of MDA than Jiyu Japonica, suggesting superior membrane stability and oxidative stress tolerance. Transcriptomic analysis identified 11,234 and 14,164 differentially expressed genes (DEGs) in JND815 and Jiyu Japonica, respectively. KEGG enrichment analysis demonstrated that these DEGs were significantly associated with phenylpropanoid biosynthesis and carbon metabolism, and Gene Ontology (GO) annotation classified them into biological processes, cellular components, and molecular functions. The expression trends of six cold-responsive DEGs were verified by qRT-PCR to be consistent with the transcriptomic data.

Conclusions: These findings offer insights into the molecular mechanisms of the low-temperature response during rice germination and lay a foundation for the genetic improvement of cold-tolerant rice varieties.

The authors would like to correct a mitochondrial genome assembly error identified in Haliastur indus in their original paper [...].

Background: Coffin-Siris syndrome 12 (CSS12) is a recently described neurodevelopmental disorder caused by heterozygous pathogenic variants in BICRA, a gene encoding a core subunit of the non-canonical BAF (ncBAF) chromatin-remodeling complex. The condition is characterized by developmental delay, hypotonia, hypertrichosis, and joint laxity. However, long-term data remain limited, and systemic manifestations are incompletely defined.

Case description: We report a 22-year-old male with a de novo BICRA frameshift variant, c.2479_2480delinsA (p.Ala827Thrfs*15), previously included in the original cohort reported by Barish et al. Longitudinal follow-up revealed an expanded phenotype extending beyond neurodevelopmental features. Early findings included global developmental delay, growth hormone deficiency, short stature, and joint hypermobility. In adolescence and adulthood, he developed severe intestinal dysmotility requiring total colectomy, recurrent spontaneous pneumothoraces from bilateral apical bullous disease, and portal-vein thrombosis, representing visceral and vascular complications not previously emphasized in BICRA-related disorders. The identified BICRA variant truncates the coiled-coil domain critical for BRD9/BRD4 interaction, consistent with a loss-of-function mechanism. The patient's systemic features suggest that BICRA haploinsufficiency affects not only neurodevelopmental pathways but also smooth-muscle and connective-tissue integrity.

Conclusions: This case expands the phenotypic spectrum of BICRA-related CSS12, demonstrating that visceral and vascular involvement can occur alongside neurodevelopmental and connective-tissue features. Recognition of these broader manifestations underscores the need for lifelong multidisciplinary surveillance and contributes to understanding the diverse biological roles of the ncBAF complex in human development.

Background: The coordinated improvement of yield, quality and resistance is a primary goal in rice breeding. Gene editing technology is a novel method for precise multiplex gene improvement.

Methods: In this study, we constructed a multiplex CRISPR/Cas9 vector targeting yield-related genes (GS3, OsPIL15, Gn1a), fragrance gene (OsBADH2) and rice blast resistance gene (Pi21) to pyramid traits for enhanced yield, quality, and disease resistance in rice. A tRNA-assisted CRISPR/Cas9 multiplex gene editing vector, M601-OsPIL15/GS3/Gn1a/OsBADH2/Pi21-gRNA, was constructed. Genetic transformation was performed using the Agrobacterium-mediated method with the japonica rice variety Xin Dao 53 as the recipient. Mutation editing efficiency was detected in T₀ transgenic plants. Grain length, grain number per panicle, thousand-grain weight, 2-acetyl-1-pyrroline (2-AP) content, and rice blast resistance of homozygous lines were measured in the T₃ generations.

Results: Effectively edited plants were obtained in the T₀ generation. The simultaneous editing efficiency for all five genes reached 9.38%. The individual gene editing efficiencies for Pi21, GS3, OsBADH2, Gn1a, and OsPIL15 were 78%, 63%, 56%, 54%, and 13%, respectively. Five five-gene homozygous edited lines with two genotypes were selected in the T₂ generation. In the T₃ generation, compared with the wild-type (WT), the edited homozygous lines showed increased grain number per panicle (14.60-25.61%), increased grain length (7.39-11.16%), increased grain length-width ratio (8.37-13.02%), increased thousand-grain weight (3.79-9.15%), a 42-64 folds increase in the fragrant substance 2-AP content, and significantly enhanced rice blast resistance. Meanwhile, there were no significant changes in other agronomic traits.

Conclusions: CRISPR/Cas9-mediated multiplex gene editing technology enabled the simultaneous editing of genes related to rice yield, quality, and disease resistance. This provides an effective approach for obtaining new japonica rice germplasm with blast resistance, long grains, and fragrance.

Background: This study systematically investigates the therapeutic effects of naringenin (NAR) and oleuropein (OLE) on prostate cancer through miR-155-5p regulation. Methods: Experimental studies conducted on MAT-LyLu prostate cancer cell lines revealed that the application of NAR (50 μM) and OLE (75 μM) significantly increased miR-155-5p expression by 2.89-fold and 1.74-fold, respectively (p < 0.05). Bioinformatics analyses have indicated that miR-155-5p interacts with critical oncogenic pathways such as KRAS, CDK2, NF-κB, and TGF-β/Smad2. Computational analyses have revealed that miR-155-5p interacts with 16 critical oncogenic targets, including KRAS and CDK2. Molecular docking studies showed that NAR binds to the Switch I/II region of KRAS with a binding energy of -8.2 kcal/mol, while OLE binds to the ATP-binding pocket of CDK2 with an affinity of -9.1 kcal/mol. Pharmacokinetic evaluations revealed that NAR indicated high oral bioavailability (93.763% HIA) and full compliance with Lipinski's rules, while OLE required advanced formulation strategies due to its high polarity. Network pharmacology analyses have shown that NAR affects lysosomal functions and enzyme regulation, while OLE affects G protein-coupled receptors and oxidoreductase activity. Results: Results indicate that NAR and OLE exhibit antitumor effects through multiple mechanisms by increasing miR-155-5p expression and inhibiting critical oncogenic targets in prostate cancer. Conclusions: Findings suggest that the dietary intake of these natural compounds (citrus and olive products) should be considered in prostate cancer prevention strategies, shedding light on the epigenetic mechanisms of polyphenols in cancer treatment and contributing to the development of new therapeutic strategies.