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Taiwanese Journal of Obstetrics &... May 2024
Detection of digynic triploidy in a second-trimester fetus presenting syndactyly, relative macrocephaly, intrauterine growth restriction, cardiomegaly, pericardial effusion, Dandy-Walker malformation, double bubble sign and single umbilical artery on prenatal ultrasound and a false negative...
Topics: Humans; Female; Pregnancy; Ultrasonography, Prenatal; Pregnancy Trimester, Second; Pregnancy Trimester, First; Dandy-Walker Syndrome; Adult; Cardiomegaly; Fetal Growth Retardation; Pericardial Effusion; Megalencephaly; Single Umbilical Artery; Triploidy; Abnormalities, Multiple; False Negative Reactions; Noninvasive Prenatal Testing
PubMed: 38802216
DOI: 10.1016/j.tjog.2024.03.014 -
Journal of Genetics and Genomics = Yi... May 2024
PubMed: 38801944
DOI: 10.1016/j.jgg.2024.05.006 -
Horticulture Research May 2024Recent study has evidenced that traditional Chinese medicinal (TCM) plant-derived schaftoside shows promise as a potential drug candidate for COVID-19 treatment....
Recent study has evidenced that traditional Chinese medicinal (TCM) plant-derived schaftoside shows promise as a potential drug candidate for COVID-19 treatment. However, the biosynthetic pathway of schaftoside in TCM plants remains unknown. In this study, the genome of the TCM herb (Osbeck) H.Ohashi & K.Ohashi (GSO), which is rich in schaftoside, was sequenced, and a high-quality assembly of GSO genome was obtained. Our findings revealed that GSO did not undergo recent whole genome duplication (WGD) but shared an ancestral papilionoid polyploidy event, leading to the gene expansion of chalcone synthase () and isoflavone 2'-hydroxylase (). Furthermore, GSO-specific tandem gene duplication resulted in the gene expansion of C-glucosyltransferase (). Integrative analysis of the metabolome and transcriptome identified 13 and eight involved in the biosynthetic pathway of schaftoside. Functional studies indicated that and identified here are responsible for the biosynthesis of schaftoside in GSO, as confirmed through hairy root transgenic system and enzyme activity assay. Taken together, the ancestral papilionoid polyploidy event expanding and , along with the GSO-specific tandem duplication of CGT, contributes, partially if not completely, to the robust biosynthesis of schaftoside in GSO. These findings provide insights into the genomic mechanisms underlying the abundant biosynthesis of schaftoside in GSO, highlighting the potential of GSO as a source of bioactive compounds for pharmaceutical development.
PubMed: 38799125
DOI: 10.1093/hr/uhae089 -
The New Phytologist Jul 2024Hybridization, the process of crossing individuals from diverse genetic backgrounds, plays a pivotal role in evolution, biological invasiveness, and crop breeding. At... (Comparative Study)
Comparative Study
Hybridization, the process of crossing individuals from diverse genetic backgrounds, plays a pivotal role in evolution, biological invasiveness, and crop breeding. At the transcriptional level, hybridization often leads to complex nonadditive effects, presenting challenges for understanding its consequences. Although standard transcriptomic analyses exist to compare hybrids to their progenitors, such analyses have not been implemented in a software package, hindering reproducibility. We introduce hybridexpress, an R/Bioconductor package designed to facilitate the analysis, visualization, and comparison of gene expression patterns in hybrid triplets (hybrids and their progenitors). hybridexpress provides users with a user-friendly and comprehensive workflow that includes all standard comparative analyses steps, including data normalization, calculation of midparent expression values, sample clustering, expression-based gene classification into categories and classes, and overrepresentation analysis for functional terms. We illustrate the utility of hybridexpress through comparative transcriptomic analyses of cotton allopolyploidization and rice root trait heterosis. hybridexpress is designed to streamline comparative transcriptomic studies of hybrid triplets, advancing our understanding of evolutionary dynamics in allopolyploids, and enhancing plant breeding strategies. hybridexpress is freely accessible from Bioconductor (https://bioconductor.org/packages/HybridExpress) and its source code is available on GitHub (https://github.com/almeidasilvaf/HybridExpress).
Topics: Software; Hybridization, Genetic; Gene Expression Profiling; Oryza; Transcriptome; Gossypium; Hybrid Vigor; Gene Expression Regulation, Plant; Plant Roots; Polyploidy
PubMed: 38798271
DOI: 10.1111/nph.19862 -
Blood Cells, Molecules & Diseases Jul 2024Immune thrombocytopenia (ITP) is an autoimmune disease caused by the loss of immune tolerance to platelet autoantigens, resulting in reduced platelet production and...
Immune thrombocytopenia (ITP) is an autoimmune disease caused by the loss of immune tolerance to platelet autoantigens, resulting in reduced platelet production and increased platelet destruction. Impaired megakaryocyte differentiation and maturation is a key factor in the pathogenesis and treatment of ITP. Sarcandra glabra, a plant of the Chloranthaceae family, is commonly used in clinical practice to treat ITP, and daucosterol (Dau) is one of its active ingredients. However, whether Dau can treat ITP and the key mechanism of its effect are still unclear. In this study, we found that Dau could effectively promote the differentiation and maturation of megakaryocytes and the formation of polyploidy in the megakaryocyte differentiation disorder model constructed by co-culturing Dami and HS-5 cells. In vivo experiments showed that Dau could not only increase the number of polyploidized megakaryocytes in the ITP rat model, but also promote the recovery of platelet count. In addition, through network pharmacology analysis, we speculated that the JAK2-STAT3 signaling pathway might be involved in the process of Dau promoting megakaryocyte differentiation. Western blot results showed that Dau inhibited the expression of P-JAK2 and P-STAT3. In summary, these results provide a basis for further studying the pharmacological mechanism of Dau in treating ITP.
Topics: Animals; Humans; Male; Rats; Cell Differentiation; Disease Models, Animal; Janus Kinase 2; Megakaryocytes; Purpura, Thrombocytopenic, Idiopathic; Signal Transduction; Sitosterols; STAT3 Transcription Factor
PubMed: 38796983
DOI: 10.1016/j.bcmd.2024.102858 -
Plants (Basel, Switzerland) May 2024Polyploid plants often exhibit enhanced stress tolerance. Switchgrass is a perennial rhizomatous bunchgrass that is considered ideal for cultivation in marginal lands,...
Polyploid plants often exhibit enhanced stress tolerance. Switchgrass is a perennial rhizomatous bunchgrass that is considered ideal for cultivation in marginal lands, including sites with saline soil. In this study, we investigated the physiological responses and transcriptome changes in the octoploid and tetraploid of switchgrass ( L. 'Alamo') under salt stress. We found that autoploid 8× switchgrass had enhanced salt tolerance compared with the amphidiploid 4× precursor, as indicated by physiological and phenotypic traits. Octoploids had increased salt tolerance by significant changes to the osmoregulatory and antioxidant systems. The salt-treated 8× Alamo plants showed greater potassium (K) accumulation and an increase in the K/Na ratio. Root transcriptome analysis for octoploid and tetraploid plants with or without salt stress revealed that 302 upregulated and 546 downregulated differentially expressed genes were enriched in genes involved in plant hormone signal transduction pathways and were specifically associated with the auxin, cytokinin, abscisic acid, and ethylene pathways. Weighted gene co-expression network analysis (WGCNA) detected four significant salt stress-related modules. This study explored the changes in the osmoregulatory system, inorganic ions, antioxidant enzyme system, and the root transcriptome in response to salt stress in 8× and 4× Alamo switchgrass. The results enhance knowledge of the salt tolerance of artificially induced homologous polyploid plants and provide experimental and sequencing data to aid research on the short-term adaptability and breeding of salt-tolerant biofuel plants.
PubMed: 38794454
DOI: 10.3390/plants13101383 -
International Journal of Molecular... May 2024Artificial hybrids between cultivated species and wild that possess genes for resistance to biotic and abiotic stresses can be important for oat breeding. For the...
Artificial hybrids between cultivated species and wild that possess genes for resistance to biotic and abiotic stresses can be important for oat breeding. For the first time, a comprehensive study of genomes of artificial fertile hybrids × and their parental species was carried out based on the chromosome FISH mapping of satellite DNA sequences (satDNAs) and also analysis of intragenomic polymorphism in the 18S-ITS1-5.8S rDNA region, using NGS data. Chromosome distribution patterns of marker satDNAs allowed us to identify all chromosomes in the studied karyotypes, determine their subgenomic affiliation, and detect several chromosome rearrangements. Based on the obtained cytogenomic data, we revealed differences between two subgenomes and demonstrated that only one of them was inherited in the studied octoploid hybrids. Ribotype analyses showed that the second major ribotype of was species-specific and was not represented in rDNA pools of the octoploids, which could be related to the allopolyploid origin of this species. Our results indicate that the use of marker satDNAs in cytogenomic studies can provide important data on genomic relationships within allopolyploid species and hybrids, and also expand the potential for interspecific crosses for breeding.
Topics: DNA, Satellite; Avena; Genome, Plant; Chromosomes, Plant; Polyploidy; DNA, Ribosomal; Genetic Markers; Hybridization, Genetic; Genetic Variation; DNA, Plant; DNA, Ribosomal Spacer; In Situ Hybridization, Fluorescence
PubMed: 38791572
DOI: 10.3390/ijms25105534 -
International Journal of Molecular... May 2024The increase in atmospheric CO concentration is a significant factor in triggering global warming. CO is essential for plant photosynthesis, but excessive CO can...
The increase in atmospheric CO concentration is a significant factor in triggering global warming. CO is essential for plant photosynthesis, but excessive CO can negatively impact photosynthesis and its associated physiological and biochemical processes. The tetraploid L., a superior and improved variety, exhibits high tolerance to abiotic stress. In this study, we investigated the physiological and proteomic response mechanisms of the tetraploid under high CO treatment. The results of our physiological and biochemical analyses revealed that a 5% high concentration of CO hindered the growth and development of the tetraploid and caused severe damage to the leaves. Additionally, it significantly reduced photosynthetic parameters such as n, s, r, and i, as well as respiration. The levels of chlorophyll (Chl a and b) and the fluorescent parameters of chlorophyll (, /, P, and ) also significantly decreased. Conversely, the levels of ROS (HO and O) were significantly increased, while the activities of antioxidant enzymes (SOD, CAT, GR, and APX) were significantly decreased. Furthermore, high CO induced stomatal closure by promoting the accumulation of ROS and NO in guard cells. Through a proteomic analysis, we identified a total of 1652 DAPs after high CO treatment. GO functional annotation revealed that these DAPs were mainly associated with redox activity, catalytic activity, and ion binding. KEGG analysis showed an enrichment of DAPs in metabolic pathways, secondary metabolite biosynthesis, amino acid biosynthesis, and photosynthetic pathways. Overall, our study provides valuable insights into the adaptation mechanisms of the tetraploid to high CO.
Topics: Carbon Dioxide; Robinia; Tetraploidy; Photosynthesis; Proteomics; Chlorophyll; Plant Proteins; Proteome; Plant Leaves; Reactive Oxygen Species; Gene Expression Regulation, Plant; Stress, Physiological; Antioxidants
PubMed: 38791300
DOI: 10.3390/ijms25105262 -
Genes Apr 2024Kohlrabi is an important swollen-stem cabbage variety belonging to the Brassicaceae family. However, few complete chloroplast genome sequences of this genus have been...
Kohlrabi is an important swollen-stem cabbage variety belonging to the Brassicaceae family. However, few complete chloroplast genome sequences of this genus have been reported. Here, a complete chloroplast genome with a quadripartite cycle of 153,364 bp was obtained. A total of 132 genes were identified, including 87 protein-coding genes, 37 transfer RNA genes and eight ribosomal RNA genes. The base composition analysis showed that the overall GC content was 36.36% of the complete chloroplast genome sequence. Relative synonymous codon usage frequency (RSCU) analysis showed that most codons with values greater than 1 ended with A or U, while most codons with values less than 1 ended with C or G. Thirty-five scattered repeats were identified and most of them were distributed in the large single-copy (LSC) region. A total of 290 simple sequence repeats (SSRs) were found and 188 of them were distributed in the LSC region. Phylogenetic relationship analysis showed that five subspecies were clustered into one group and the kohlrabi chloroplast genome was closely related to that of var. Our results provide a basis for understanding chloroplast-dependent metabolic studies and provide new insight for understanding the polyploidization of Brassicaceae species.
Topics: Genome, Chloroplast; Phylogeny; Brassica; Microsatellite Repeats; Base Composition; Codon Usage; Chloroplasts; Whole Genome Sequencing
PubMed: 38790180
DOI: 10.3390/genes15050550 -
Biology of Reproduction May 2024Klinefelter syndrome (KS) is the most prevalent chromosomal disorder occurring in males. It is defined by an additional X chromosome, 47,XXY, resulting from errors in...
Klinefelter syndrome (KS) is the most prevalent chromosomal disorder occurring in males. It is defined by an additional X chromosome, 47,XXY, resulting from errors in chromosomal segregation during parental gametogenesis. A major phenotype is impaired reproductive function, in the form of low testosterone and infertility. This review comprehensively examines the genetic and physiological factors contributing to infertility in KS, in addition to emergent assisted reproductive technologies, and the unique ethical challenges KS patients face when seeking infertility treatment. The pathology underlying KS is increased susceptibility for meiotic errors during spermatogenesis, resulting in aneuploid or even polyploid gametes. Specific genetic elements potentiating this susceptibility include polymorphisms in checkpoint genes regulating chromosomal synapsis and segregation. Physiologically, the additional sex chromosome also alters testicular endocrinology and metabolism by dysregulating interstitial and Sertoli cell function, collectively impairing normal sperm development. Additionally, epigenetic modifications like aberrant DNA methylation are being increasingly implicated in these disruptions. We also discuss assisted reproductive approaches leveraged in infertility management for KS patients. Application of assisted reproductive approaches, along with deep comprehension of the meiotic and endocrine disturbances precipitated by supernumerary X chromosomes, shows promise in enabling biological parenthood for KS individuals. This will require continued multidisciplinary collaboration between experts with background of genetics, physiology, ethics and clinical reproductive medicine.
PubMed: 38785325
DOI: 10.1093/biolre/ioae076