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1.
PLoS Genet ; 19(6): e1010820, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-37339141

RESUMEN

BACKGROUND: The lack of integrated analysis of genome-wide association studies (GWAS) and 3D epigenomics restricts a deep understanding of the genetic mechanisms of meat-related traits. With the application of techniques as ChIP-seq and Hi-C, the annotations of cis-regulatory elements in the pig genome have been established, which offers a new opportunity to elucidate the genetic mechanisms and identify major genetic variants and candidate genes that are significantly associated with important economic traits. Among these traits, loin muscle depth (LMD) is an important one as it impacts the lean meat content. In this study, we integrated cis-regulatory elements and genome-wide association studies (GWAS) to identify candidate genes and genetic variants regulating LMD. RESULTS: Five single nucleotide polymorphisms (SNPs) located on porcine chromosome 17 were significantly associated with LMD in Yorkshire pigs. A 10 kb quantitative trait locus (QTL) was identified as a candidate functional genomic region through the integration of linkage disequilibrium and linkage analysis (LDLA) and high-throughput chromosome conformation capture (Hi-C) analysis. The BMP2 gene was identified as a candidate gene for LMD based on the integrated results of GWAS, Hi-C meta-analysis, and cis-regulatory element data. The identified QTL region was further verified through target region sequencing. Furthermore, through using dual-luciferase assays and electrophoretic mobility shift assays (EMSA), two SNPs, including SNP rs321846600, located in the enhancer region, and SNP rs1111440035, located in the promoter region, were identified as candidate SNPs that may be functionally related to the LMD. CONCLUSIONS: Based on the results of GWAS, Hi-C, and cis-regulatory elements, the BMP2 gene was identified as an important candidate gene regulating variation in LMD. The SNPs rs321846600 and rs1111440035 were identified as candidate SNPs that are functionally related to the LMD of Yorkshire pigs. Our results shed light on the advantages of integrating GWAS with 3D epigenomics in identifying candidate genes for quantitative traits. This study is a pioneering work for the identification of candidate genes and related genetic variants regulating one key production trait (LMD) in pigs by integrating genome-wide association studies and 3D epigenomics.


Asunto(s)
Epigenómica , Estudio de Asociación del Genoma Completo , Porcinos/genética , Animales , Estudio de Asociación del Genoma Completo/métodos , Sitios de Carácter Cuantitativo/genética , Músculos , Fenotipo , Polimorfismo de Nucleótido Simple
2.
Plant J ; 2024 May 11.
Artículo en Inglés | MEDLINE | ID: mdl-38733630

RESUMEN

Skin color is an important trait that determines the cosmetic appearance and quality of fruits. In cucumber, the skin color ranges from white to brown in mature fruits. However, the genetic basis for this important trait remains unclear. We conducted a genome-wide association study of natural cucumber populations, along with map-based cloning techniques, on an F2 population resulting from a cross between Pepino (with yellow-brown fruit skin) and Zaoer-N (with creamy fruit skin). We identified CsMYB60 as a candidate gene responsible for skin coloration in mature cucumber fruits. In cucumber accessions with white to pale yellow skin color, a premature stop mutation (C to T) was found in the second exon region of CsMYB60, whereas light yellow cucumber accessions exhibited splicing premature termination caused by an intronic mutator-like element insertion in CsMYB60. Transgenic CsMYB60c cucumber plants displayed a yellow-brown skin color by promoting accumulation of flavonoids, especially hyperoside, a yellow-colored flavonol. CsMYB60c encodes a nuclear protein that primarily acts as a transcriptional activator through its C-terminal activation motif. RNA sequencing and DNA affinity purification sequencing assays revealed that CsMYB60c promotes skin coloration by directly binding to the YYTACCTAMYT motif in the promoter regions of flavonoid biosynthetic genes, including CsF3'H, which encodes flavonoid 3'-hydroxylase. The findings of our study not only offer insight into the function of CsMYB60 as dominantly controlling fruit coloration, but also highlight that intronic DNA mutations can have a similar phenotypic impact as exonic mutations, which may be valuable in future cucumber breeding programs.

3.
Plant Physiol ; 2024 Jun 26.
Artículo en Inglés | MEDLINE | ID: mdl-38918826

RESUMEN

Waterlogging is a serious abiotic stress that drastically decreases crop productivity by damaging the root system. Jasmonic acid (JA) inhibits waterlogging-induced adventitious root (AR) formation in cucumber (Cucumis sativus L.). However, we still lack a profound mechanistic understanding of how JA governs AR formation under waterlogging stress. JAZ (JASMONATE ZIM-DOMAIN) proteins are responsible for repressing JA signaling in a transcriptional manner. In this study, we showed that overexpressing CsJAZ8 inhibited the formation of ARs triggered by waterlogging. Molecular analyses revealed that CsJAZ8 inhibited the activation of the R2R3-MYB transcription factor CsMYB6 via direct interaction. Additionally, silencing of CsMYB6 negatively impacted AR formation under waterlogging stress, as CsMYB6 could directly bind to the promoters of 1-aminocyclopropane-1-carboxylate oxidase2 gene CsACO2 and gibberellin 20-oxidases gene CsGA20ox2, facilitating the transcription of these genes. The overexpression of CsACO2 and CsGA20ox2 led to increased levels of ethylene and gibberellin, which facilitated AR formation under waterlogging conditions. On the contrary, silencing these genes resulted in contrasting phenotypes of AR formation. These results highlight that the transcriptional cascade of CsJAZ8 and CsMYB6 plays a critical role in regulating hormonal-mediated cucumber waterlogging-triggered AR formation by inhibiting ethylene and gibberellin accumulation. We anticipate that our findings will provide insights into the molecular mechanisms that drive the emergence of AR in cucumber plants under waterlogging stress.

4.
Nucleic Acids Res ; 51(D1): D816-D826, 2023 01 06.
Artículo en Inglés | MEDLINE | ID: mdl-36300636

RESUMEN

Single-nucleotide polymorphisms (SNPs) as the most important type of genetic variation are widely used in describing population characteristics and play vital roles in animal genetics and breeding. Large amounts of population genetic variation resources and tools have been developed in human, which provided solid support for human genetic studies. However, compared with human, the development of animal genetic variation databases was relatively slow, which limits the genetic researches in these animals. To fill this gap, we systematically identified ∼ 499 million high-quality SNPs from 4784 samples of 20 types of animals. On that basis, we annotated the functions of SNPs, constructed high-density reference panels and calculated genome-wide linkage disequilibrium (LD) matrixes. We further developed Animal-SNPAtlas, a user-friendly database (http://gong_lab.hzau.edu.cn/Animal_SNPAtlas/) which includes high-quality SNP datasets and several support tools for multiple animals. In Animal-SNPAtlas, users can search the functional annotation of SNPs, perform online genotype imputation, explore and visualize LD information, browse variant information using the genome browser and download SNP datasets for each species. With the massive SNP datasets and useful tools, Animal-SNPAtlas will be an important fundamental resource for the animal genomics, genetics and breeding community.


Asunto(s)
Bases de Datos Genéticas , Polimorfismo de Nucleótido Simple , Animales , Genoma , Genotipo , Desequilibrio de Ligamiento
5.
Nucleic Acids Res ; 51(D1): D1312-D1324, 2023 01 06.
Artículo en Inglés | MEDLINE | ID: mdl-36300629

RESUMEN

With the exponential growth of multi-omics data, its integration and utilization have brought unprecedented opportunities for the interpretation of gene regulation mechanisms and the comprehensive analyses of biological systems. IAnimal (https://ianimal.pro/), a cross-species, multi-omics knowledgebase, was developed to improve the utilization of massive public data and simplify the integration of multi-omics information to mine the genetic mechanisms of objective traits. Currently, IAnimal provides 61 191 individual omics data of genome (WGS), transcriptome (RNA-Seq), epigenome (ChIP-Seq, ATAC-Seq) and genome annotation information for 21 species, such as mice, pigs, cattle, chickens, and macaques. The scale of its total clean data has reached 846.46 TB. To better understand the biological significance of omics information, a deep learning model for IAnimal was built based on BioBERT and AutoNER to mine 'gene' and 'trait' entities from 2 794 237 abstracts, which has practical significance for comprehending how each omics layer regulates genes to affect traits. By means of user-friendly web interfaces, flexible data application programming interfaces, and abundant functional modules, IAnimal enables users to easily query, mine, and visualize characteristics in various omics, and to infer how genes play biological roles under the influence of various omics layers.


Asunto(s)
Bases de Datos Genéticas , Animales , Regulación de la Expresión Génica , Genoma , Bases del Conocimiento , Programas Informáticos , Multiómica
6.
Plant J ; 114(4): 824-835, 2023 05.
Artículo en Inglés | MEDLINE | ID: mdl-36871136

RESUMEN

The formation of adventitious roots (ARs) derived from hypocotyl is the most important morphological adaptation to waterlogging stress in Cucumis sativus (cucumber). Our previous study showed that cucumbers with the gene CsARN6.1, encoding an AAA ATPase domain-containing protein, were more tolerant to waterlogging through increased AR formation. However, the apparent function of CsARN6.1 remained unknown. Here, we showed that the CsARN6.1 signal was predominantly observed throughout the cambium of hypocotyls, where de novo AR primordia are formed upon waterlogging treatment. The silencing of CsARN6.1 expression by virus-induced gene silencing and CRISPR/Cas9 technologies adversely affects the formation of ARs under conditions of waterlogging. Waterlogging treatment significantly induced ethylene production, thus upregulating CsEIL3 expression, which encodes a putative transcription factor involved in ethylene signaling. Furthermore, yeast one-hybrid, electrophoretic mobility assay and transient expression analyses showed that CsEIL3 binds directly to the CsARN6.1 promoter to initiate its expression. CsARN6.1 was found to interact with CsPrx5, a waterlogging-responsive class-III peroxidase that enhanced H2 O2 production and increased AR formation. These data provide insights into understanding the molecular mechanisms of AAA ATPase domain-containing protein and uncover a molecular mechanism that links ethylene signaling with the formation of ARs triggered by waterlogging.


Asunto(s)
Cucumis sativus , Cucumis sativus/genética , Cucumis sativus/metabolismo , Etilenos/metabolismo , Hipocótilo/metabolismo , Regulación de la Expresión Génica de las Plantas , ATPasas Asociadas con Actividades Celulares Diversas/genética , Raíces de Plantas/genética , Raíces de Plantas/metabolismo
7.
Funct Integr Genomics ; 24(4): 116, 2024 Jun 24.
Artículo en Inglés | MEDLINE | ID: mdl-38910225

RESUMEN

Chloroplasts are not only critical photosynthesis sites in plants, but they also participate in plastidial retrograde signaling in response to developmental and environmental signals. MEcPP (2-C-Methyl-D-erythritol-2,4-cyclopyrophosphate) is an intermediary in the methylerythritol phosphate (MEP) pathway in chloroplasts. It is a critical precursor for the synthesis of isoprenoids and terpenoid derivatives, which play crucial roles in plant growth and development, photosynthesis, reproduction, and defense against environmental constraints. Accumulation of MEcPP under stressful conditions triggers the expression of IMPα-9 and TPR2, contributing to the activation of abiotic stress-responsive genes. In this correspondence, we discuss plastidial retrograde signaling in support of a recently published paper in Molecular Plant (Zeng et al. 2024). We hope that it can shed more insight on the retrograde signaling cascade.


Asunto(s)
Cloroplastos , Estrés Fisiológico , Cloroplastos/metabolismo , Regulación de la Expresión Génica de las Plantas , Transducción de Señal , Arabidopsis/genética , Arabidopsis/metabolismo , Eritritol/metabolismo , Eritritol/análogos & derivados , Proteínas de Arabidopsis/metabolismo , Proteínas de Arabidopsis/genética , Fosfatos de Azúcar/metabolismo , MAP Quinasa Quinasa Quinasa 5/metabolismo , MAP Quinasa Quinasa Quinasa 5/genética
8.
Plant Physiol ; 193(2): 1001-1015, 2023 09 22.
Artículo en Inglés | MEDLINE | ID: mdl-37394925

RESUMEN

Cucumber (Cucumis sativus L.) flesh is typically colorless or pale green. Flesh with yellow or orange pigment, determined mainly by carotenoid content and composition, is mostly found in semi-wild Xishuangbanna cucumber, which has a very narrow genetic background. Here, we identified a spontaneous cucumber mutant with yellow flesh (yf-343), which accumulated more ß-cryptoxanthin and less lutein than regular cultivated European glasshouse-type cucumbers. Genetic analysis revealed that the yellow flesh phenotype was controlled by a single recessive gene. Through fine mapping and gene sequencing, we identified the candidate gene C. sativus yellow flesh 2 (Csyf2), encoding an abscisic acid (ABA) 8'-hydroxylase. Overexpression and RNAi-silencing of Csyf2 in cucumber hairy roots produced lower and higher ABA contents than in non-transgenic controls, respectively. Further, RNA-seq analysis suggested that genes related to ABA signal transduction were differentially expressed in fruit flesh between yf-343 and its wild type, BY, with white flesh. The carotenoid biosynthesis pathway was specifically enriched in fruit flesh at 30 days after pollination when yf-343 fruit flesh turns yellow. Our findings highlight a promising target for gene editing to increase carotenoid content, expanding our genetic resources for pigmented cucumber flesh breeding for improving the nutritional quality of cucumber.


Asunto(s)
Cucumis sativus , Cucumis sativus/genética , Fitomejoramiento , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo , Carotenoides/metabolismo , Frutas/genética
9.
Lipids Health Dis ; 23(1): 191, 2024 Jun 22.
Artículo en Inglés | MEDLINE | ID: mdl-38909247

RESUMEN

BACKGROUND: Observational studies have indicated that the plasma lipid profiles of patients with atopic dermatitis show significant differences compared to healthy individuals. However, the causal relationship between these differences remains unclear due to the inherent limitations of observational studies. Our objective was to explore the causal effects between 179 plasma lipid species and atopic dermatitis, and to investigate whether circulating inflammatory proteins serve as mediators in this causal pathway. METHODS: We utilized public genome-wide association studies data to perform a bidirectional two-sample, two-step mendelian randomization study. The inverse variance-weighted method was adopted as the primary analysis technique. MR-Egger and the weighted median were used as supplementary analysis methods. MR-PRESSO, Cochran's Q test, and MR-Egger intercept test were applied for sensitivity analyses to ensure the robustness of our findings. RESULTS: The Mendelian randomization analysis revealed that levels of Phosphatidylcholine (PC) (18:1_20:4) (OR: 0.950, 95% CI: 0.929-0.972, p = 6.65 × 10- 6), Phosphatidylethanolamine (O-18:1_20:4) (OR: 0.938, 95% CI: 0.906-0.971, p = 2.79 × 10- 4), Triacylglycerol (TAG) (56:6) (OR: 0.937, 95% CI: 0.906-0.969, p = 1.48 × 10- 4) and TAG (56:8) (OR: 0.918, 95% CI: 0.876-0.961, p = 2.72 × 10- 4) were inversely correlated with the risk of atopic dermatitis. Conversely, PC (18:1_20:2) (OR: 1.053, 95% CI: 1.028-1.079, p = 2.11 × 10- 5) and PC (O-18:1_20:3) (OR: 1.086, 95% CI: 1.039-1.135, p = 2.47 × 10- 4) were positively correlated with the risk of atopic dermatitis. The results of the reverse directional Mendelian randomization analysis indicated that atopic dermatitis exerted no significant causal influence on 179 plasma lipid species. The level of circulating IL-18R1 was identified as a mediator for the increased risk of atopic dermatitis associated with higher levels of PC (18:1_20:2), accounting for a mediation proportion of 9.07%. CONCLUSION: Our research suggests that plasma lipids can affect circulating inflammatory proteins and may serve as one of the pathogenic factors for atopic dermatitis. Targeting plasma lipid levels as a treatment for atopic dermatitis presents a potentially novel approach.


Asunto(s)
Dermatitis Atópica , Estudio de Asociación del Genoma Completo , Análisis de la Aleatorización Mendeliana , Dermatitis Atópica/sangre , Dermatitis Atópica/genética , Humanos , Lípidos/sangre , Triglicéridos/sangre , Fosfatidiletanolaminas/sangre , Fosfatidilcolinas/sangre , Polimorfismo de Nucleótido Simple
10.
Anim Genet ; 55(2): 217-229, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38296601

RESUMEN

The establishment of high-quality pork breeds for improving meat quality in the pig industry is needed. The Chuxiang Black (CX) pig is a new breed developed from Chinese local pigs and Western lean pigs that has a high proportion of lean meat and excellent meat quality. However, the characteristics of cis-regulatory elements in CX pigs are still unknown. In this study, cis-regulatory elements of muscle and adipose tissues in CX pigs were investigated using ChIP-seq and RNA sequencing. Compared with the reported cis-regulatory elements of muscle and adipose tissues, 1768 and 1012 highly activated enhancers and 433 and 275 highly activated promoters in CX muscle and adipose tissues were identified, respectively. Motif analysis showed that transcription factors, such as MEF2A and MEF2C, were core regulators of highly activated enhancers and promoters in muscle. Similarly, the transcription factors JUNB and CUX1 were identified as essential for highly activated enhancers and promoters in CX adipose tissue. These results enrich the resources for the analysis of cis-regulatory elements in the pig genome and provide new basic data for further meat quality improvement through breeding in pigs.


Asunto(s)
Tejido Adiposo , Músculo Esquelético , Porcinos/genética , Animales , Músculo Esquelético/fisiología , Tejido Adiposo/fisiología , Secuencia de Bases , Secuencias Reguladoras de Ácidos Nucleicos , Factores de Transcripción/genética , Carne/análisis
11.
Eur Spine J ; 2024 Mar 25.
Artículo en Inglés | MEDLINE | ID: mdl-38526628

RESUMEN

BACKGROUND: Neurofibromatosis type 1 (NF 1) is an autosomal-dominant tumor predisposition genetic disease affecting approximately 1 in 3000 live births. The condition could present various manifestations ranging from skin abnormalities to neurological tumors. The musculoskeletal system could also be frequently affected, and scoliosis is the most common orthopedic manifestation. Characterized by the early-onset and rapid progression tendency, NF 1-related dystrophic scoliosis presented discrepancies from idiopathic scoliosis in terms of natural history, clinical features, and management outcomes and thus required special attention. In the current study, the authors conducted a systemic review to outline the body of evidence of the natural history, clinical characteristics, surgical outcomes, and surgical complications of NF 1-induced scoliosis, aiming to provide an elucidative insight into this condition. METHOD: Systemic review and meta-analysis were conducted according to the latest Preferred Reporting Items for Systematic Reviews Meta-Analyses (PRISMA) guidelines. The search was performed in Medline, Embase, and Web of Science Core Collection up to December 27, 2022, using related keywords. Clinical features such as frequencies, segmental involvement, and hereditary information were summarized and described qualitatively. Meta-analysis was conducted using R software and the 'meta' package to yield an overall outcome of efficacy and safety of surgical management, precisely, spinal fusion procedure and growing rods procedure. Corrective rate of Cobb angle, sagittal kyphosis angle, and T1-S1 length post-operative and at the last follow-up was used to evaluate the efficacy, and the occurrence of surgery-related complications was used to evaluate the safety. RESULT: A total of 37 articles involving 1023 patients were included. Approximately 26.6% of the NF 1 patients would present with scoliosis. Patients tend to develop scoliosis at an earlier age. The thoracic part turned out to be the most affected segment. No obvious correlation between scoliosis and genotype or hereditary type was observed. Both spinal fusion and growing rod surgery have shown acceptable treatment outcomes, with spinal fusion demonstrating better performance in terms of effectiveness and safety. The growing rods technique seemed to allow a better lengthening of the spine. The mainstay post-operative complications were implant-related complications but could be managed with limited revision surgery. Severe neurological deficits were rarely reported. CONCLUSION: Scoliosis, especially the subtype characterized by dystrophic bony changes, is a significant orthopedic manifestation of NF1. It has an early onset, a tendency to persistently and rapidly progress, and is challenging to deal with. The current review outlines the available evidence from the perspective of natural history, clinical features, and the treatment efficacy and safety of the mainstay surgical options. Patients with NF1 scoliosis will benefit from a better understanding of the disease and evidence based treatment strategies.

12.
Int J Mol Sci ; 25(10)2024 May 10.
Artículo en Inglés | MEDLINE | ID: mdl-38791235

RESUMEN

Climate change-induced weather events, such as extreme temperatures, prolonged drought spells, or flooding, pose an enormous risk to crop productivity. Studies on the implications of multiple stresses may vary from those on a single stress. Usually, these stresses coincide, amplifying the extent of collateral damage and contributing to significant financial losses. The breadth of investigations focusing on the response of horticultural crops to a single abiotic stress is immense. However, the tolerance mechanisms of horticultural crops to multiple abiotic stresses remain poorly understood. In this review, we described the most prevalent types of abiotic stresses that occur simultaneously and discussed them in in-depth detail regarding the physiological and molecular responses of horticultural crops. In particular, we discussed the transcriptional, posttranscriptional, and metabolic responses of horticultural crops to multiple abiotic stresses. Strategies to breed multi-stress-resilient lines have been presented. Our manuscript presents an interesting amount of proposed knowledge that could be valuable in generating resilient genotypes for multiple stressors.


Asunto(s)
Productos Agrícolas , Regulación de la Expresión Génica de las Plantas , Estrés Fisiológico , Productos Agrícolas/genética , Sequías , Cambio Climático , Horticultura/métodos
13.
Physiol Genomics ; 55(10): 415-426, 2023 10 01.
Artículo en Inglés | MEDLINE | ID: mdl-37519249

RESUMEN

Congenital heart disease is the most frequent congenital disorder, affecting a significant number of live births. Gaining insights into its genetic etiology could lead to a deeper understanding of this condition. Although the Nf1 gene has been identified as a potential causative gene, its role in congenital heart disease has not been thoroughly clarified. We searched and summarized evidence from cohort-based and experimental studies on the issue of Nf1 and heart development in congenital heart diseases from various databases. Available evidence demonstrates a correlation between Nf1 and congenital heart diseases, mainly pulmonary valvar stenosis. The mechanism underlying this correlation may involve dysregulation of epithelial-mesenchymal transition (EMT). The Nf1 gene affects the EMT process via multiple pathways, including directly regulating the expression of EMT-related transcription factors and indirectly regulating the EMT process by regulating the MAPK pathway. This narrative review provides a comprehensive account of the Nf1 involvement in heart development and congenital cardiovascular diseases in terms of epidemiology and potential mechanisms. RAS signaling may contribute to congenital heart disease independently or in cooperation with other signaling pathways. Efficient management of both NF1 and cardiovascular disease patients would benefit from further research into these issues.


Asunto(s)
Enfermedades Cardiovasculares , Cardiopatías Congénitas , Neurofibromatosis 1 , Humanos , Neurofibromatosis 1/genética , Neurofibromatosis 1/metabolismo , Genes de Neurofibromatosis 1 , Neurofibromina 1/genética , Neurofibromina 1/metabolismo , Corazón , Cardiopatías Congénitas/genética , Cardiopatías Congénitas/epidemiología , Enfermedades Cardiovasculares/genética
14.
Plant J ; 110(3): 627-645, 2022 05.
Artículo en Inglés | MEDLINE | ID: mdl-35218099

RESUMEN

Occupation of living space is one of the main driving forces of adaptive evolution, especially for aquatic plants whose leaves float on the water surface and thus have limited living space. Euryale ferox, from the angiosperm basal family Nymphaeaceae, develops large, rapidly expanding leaves to compete for space on the water surface. Microscopic observation found that the cell proliferation of leaves is almost completed underwater, while the cell expansion occurs rapidly after they grow above water. To explore the mechanism underlying the specific development of leaves, we performed sequences assembly and analyzed the genome and transcriptome dynamics of E. ferox. Through reconstruction of the three sub-genomes generated from the paleo-hexaploidization event in E. ferox, we revealed that one sub-genome was phylogenetically closer to Victoria cruziana, which also exhibits gigantic floating leaves. Further analysis revealed that while all three sub-genomes promoted the evolution of the specific leaf development in E. ferox, the genes from the sub-genome closer to V. cruziana contributed more to this adaptive evolution. Moreover, we found that genes involved in cell proliferation and expansion, photosynthesis, and energy transportation were over-retained and showed strong expression association with the leaf development stages, such as the expression divergence of SWEET orthologs as energy uploaders and unloaders in the sink and source leaf organs of E. ferox. These findings provide novel insights into the genome evolution through polyploidization, as well as the adaptive evolution regarding the leaf development accomplished through biased gene retention and expression sub-functionalization of multi-copy genes in E. ferox.


Asunto(s)
Nymphaeaceae , Nymphaeaceae/genética , Nymphaeaceae/metabolismo , Fotosíntesis/genética , Hojas de la Planta/genética , Transcriptoma/genética , Agua/metabolismo
15.
Circ Res ; 128(2): 232-245, 2021 01 22.
Artículo en Inglés | MEDLINE | ID: mdl-33176578

RESUMEN

RATIONALE: Over 50% of patients with heart failure have preserved ejection fraction (HFpEF), rather than reduced ejection fraction. Complexity of its pathophysiology and the lack of animal models hamper the development of effective therapy for HFpEF. OBJECTIVE: This study was designed to investigate the metabolic mechanisms of HFpEF and test therapeutic interventions using a novel animal model. METHODS AND RESULTS: By combining the age, long-term high-fat diet, and desoxycorticosterone pivalate challenge in a mouse model, we were able to recapture the myriad features of HFpEF. In these mice, mitochondrial hyperacetylation exacerbated while increasing ketone body availability rescued the phenotypes. The HFpEF mice exhibited overproduction of IL (interleukin)-1ß/IL-18 and tissue fibrosis due to increased assembly of NLPR3 inflammasome on hyperacetylated mitochondria. Increasing ß-hydroxybutyrate level attenuated NLPR3 inflammasome formation and antagonized proinflammatory cytokine-triggered mitochondrial dysfunction and fibrosis. Moreover, ß-hydroxybutyrate downregulated the acetyl-CoA pool and mitochondrial acetylation, partially via activation of CS (citrate synthase) and inhibition of fatty acid uptake. CONCLUSIONS: Therefore, we identify the interplay of mitochondrial hyperacetylation and inflammation as a key driver in HFpEF pathogenesis, which can be ameliorated by promoting ß-hydroxybutyrate abundance.


Asunto(s)
Antiinflamatorios/farmacología , Metabolismo Energético/efectos de los fármacos , Insuficiencia Cardíaca/tratamiento farmacológico , Mediadores de Inflamación/metabolismo , Inflamación/tratamiento farmacológico , Mitocondrias Cardíacas/efectos de los fármacos , Miocitos Cardíacos/efectos de los fármacos , Ácido 3-Hidroxibutírico , Células 3T3 , Acetilcoenzima A/metabolismo , Acetilación , Anciano , Animales , Citocinas/metabolismo , Modelos Animales de Enfermedad , Ácidos Grasos/metabolismo , Femenino , Fibrosis , Insuficiencia Cardíaca/metabolismo , Insuficiencia Cardíaca/patología , Insuficiencia Cardíaca/fisiopatología , Humanos , Inflamación/metabolismo , Inflamación/patología , Inflamación/fisiopatología , Masculino , Ratones , Ratones Endogámicos C57BL , Ratones Noqueados , Persona de Mediana Edad , Mitocondrias Cardíacas/metabolismo , Mitocondrias Cardíacas/patología , Miocitos Cardíacos/metabolismo , Miocitos Cardíacos/patología , Proteína con Dominio Pirina 3 de la Familia NLR/metabolismo , Células RAW 264.7 , Ratas , Sirtuina 3/genética , Sirtuina 3/metabolismo , Volumen Sistólico/efectos de los fármacos , Función Ventricular Izquierda/efectos de los fármacos
16.
Wound Repair Regen ; 31(5): 597-612, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37552080

RESUMEN

Chronic wounds have been confirmed as a vital health problem facing people in the global population aging process. While significant progress has been achieved in the study of chronic wounds, the treatment effect should be further improved. The number of publications regarding chronic wounds has been rising rapidly. In this study, bibliometric analysis was conducted to explore the hotspots and trends in the research on chronic wounds. All relevant studies on chronic wounds between 2013 and 2022 were collected from the PubMed database of the Web of Science (WOS) and the National Center for Biotechnology Information (NCBI). The data were processed and visualised using a series of software. On that basis, more insights can be gained into hotspots and trends of this research field. Wound Repair and Regeneration has the highest academic achievement in the field of chronic wound research. The United States has been confirmed as the most productive country, and the University of California System ranks high among other institutions. Augustin, M. is the author of the most published study, and Frykberg, RG et al. published the most cited study. Furthermore, the hotspots of wound research over the last decade were identified (e.g., bandages, infection and biofilms, pathophysiology and therapy). This study will help researchers gain insights into chronic wound research's hotspots and trends accurately and quickly. Moreover, the exploration of bacterial biofilm and the pathophysiological mechanism of the chronic wound will lay a solid foundation and clear direction for treating chronic wounds.


Asunto(s)
Bibliometría , Cicatrización de Heridas , Humanos , Envejecimiento , Vendajes , Biopelículas
17.
Genomics ; 114(2): 110276, 2022 03.
Artículo en Inglés | MEDLINE | ID: mdl-35104610

RESUMEN

Although large-scale and accurate identification of cis-regulatory elements on pig protein-coding and long non-coding genes has been reported, similar study on pig miRNAs is still lacking. Here, we systematically characterized the cis-regulatory elements of pig miRNAs in muscle and fat by adopting miRNAomes, ChIP-seq, ATAC-seq, RNA-seq and Hi-C data. In total, the cis-regulatory elements of 257 (85.95%) expressed miRNAs including 226 known and 31 novel miRNAs were identified. Especially, the miRNAs associated with super-enhancers, active promoters, and "A" compartment were significantly higher than those associated by typical enhancers, prompters without H3K27ac, and "B" compartment, respectively. The tissue specific transcription factors were the primary determination of core miRNA expression pattern in muscle and fat. Moreover, the miRNA promoters are more evolutionarily conserved than miRNA enhancers, like other type genes. Our study adds additional important information to existing pig epigenetic data and provides essential resource for future in-depth investigation of pig epigenetics.


Asunto(s)
Epigenómica , MicroARNs , Animales , Secuenciación de Inmunoprecipitación de Cromatina , MicroARNs/genética , Músculos , Secuencias Reguladoras de Ácidos Nucleicos , Porcinos/genética
18.
Molecules ; 28(12)2023 Jun 08.
Artículo en Inglés | MEDLINE | ID: mdl-37375192

RESUMEN

Lignin structure is an important factor affecting the cooking part of the pulping process. In this study, the effect of lignin side chain spatial configuration on cooking performance was analyzed, and the structural characteristics of eucalyptus and acacia during cooking were compared and studied by combining ozonation, GC-MS, NBO, and 2D NMR (1H-13C HSQC). In addition, the changes in the lignin content of four different raw materials during the cooking process were studied via ball milling and UV spectrum analysis. The results showed that the content of lignin in the raw material decreased continuously during the cooking process. Only in the late cooking stage, when the lignin removal reached its limit, did the lignin content tend to be stable due to the polycondensation reaction of lignin. At the same time, the E/T ratio and S/G ratio of the reaction residual lignin also followed a similar rule. At the beginning of cooking, the values of E/T and S/G decreased rapidly and then gradually rose when they reached a low point. The different initial E/T and S/G values of different raw materials lead to the disunity of cooking efficiency and the different transformation rules of different raw materials in the cooking process. Therefore, the pulping efficiency of different raw materials can be improved using different technological means.

19.
Int Wound J ; 20(9): 3628-3638, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37211352

RESUMEN

To develop a risk assessment scale for pathological scarring and validate its psychometric properties. This was a methodological study. Researchers developed the scale based on a literature review, qualitative study and Delphi expert consultation. Subsequently, 409 patients participated in the study to test the psychometric properties of the scale. We evaluated construct validity, content validity, internal consistency reliability, and interrater reliability. The researchers developed a scale consisting of three dimensions and 12 items. Factor analysis extracted a total of four common factors that accounted for 62.22% of the total variance. The results revealed that the item-content validity index (I-CVI) ranged from 0.67 to 1, while the scale-content validity index (S-CVI) was 0.82. Internal consistency reliability: Cronbach's α of the items ranged from 0.67 to 0.76, while Cronbach's α of the whole scale was 0.74. Interrater reliability: the Kappa number was 0.73. The final scale showed adequate construct validity, content validity, and reliability. It is appropriate for use in research and clinical practice settings to identify patients with a risk of pathological scarring. Further study is needed to confirm the scale's validity and reliability in other settings and populations.


Asunto(s)
Cicatriz , Medición de Riesgo , Humanos , Cicatriz/diagnóstico , Cicatriz/etiología , Análisis Factorial , Psicometría/métodos , Reproducibilidad de los Resultados , Encuestas y Cuestionarios , Medición de Riesgo/métodos
20.
Liver Int ; 42(12): 2713-2723, 2022 12.
Artículo en Inglés | MEDLINE | ID: mdl-36264137

RESUMEN

BACKGROUND AND AIMS: There is little epidemiological evidence linking the exposure of organophosphate pesticides (OPs) to liver function or liver injury in the general population. We used data from the National Health and Nutrition Examination Survey 1999-2012 to investigate the relationship of urinary OPs with biomarkers of liver function/liver injury. METHODS: The exposures were the concentrations of urinary OP metabolites (dimethyl phosphate [DMP], dimethyl thiophosphate [DMTP], diethyl phosphate [DEP] and diethyl thiophosphate [DETP]). The health outcomes were biomarkers of liver function/liver injury. The multivariable linear regression model, restricted cubic splines (RCSs) analysis and weighted quantile sum (WQS) regression were used to evaluate the relationship between individual or overall exposure of OPs and outcomes. RESULTS: Regressions of RCSs suggested linear and positive associations of OP metabolites with aspartate aminotransferase/alanine aminotransferase (AST/ALT) ratio (DMP and DEP) and fibrosis-4 (FIB-4) index (DMP, DEP and DMTP) (all p-non-linear values >.05). However, L-shaped relationships were found between OP metabolites (DMTP and DETP) and blood albumin and total protein (TP) concentrations (both p and non-linear values <.05). The positive associations of urinary DMP, DEP and DMTP with AST/ALT ratio, and with FIB-4 score were more pronounced among non-smokers than smokers, among alcohol drinkers than non-drinkers and among those with a body mass index (BMI) of ≥25 than participants with a BMI of <25. However, most of the interaction p values were more than .05, indicating no significant interactions between covariates and OPs on outcomes mainly including AST/ALT, FIB-4, ALB and TP levels. Finally, the WQS indices were positively associated with AST/ALT ratio (p = .014) and FIB-4 score (p = .002). CONCLUSIONS: Our study added novel evidence that exposures to OPs might be adversely associated with the biomarkers of liver function/liver injury. These findings indicated the potential toxic effect of OP exposures on the human liver.


Asunto(s)
Insecticidas , Plaguicidas , Humanos , Encuestas Nutricionales , Compuestos Organofosforados , Organotiofosfatos , Insecticidas/orina , Biomarcadores , Hígado , Exposición a Riesgos Ambientales , Plaguicidas/orina
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