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1.
Stem Cell Res ; 77: 103391, 2024 Mar 14.
Artigo em Inglês | MEDLINE | ID: mdl-38531230

RESUMO

Presenilin-2 (PSEN2) mutation is one of the pathogenic factors of autosomal dominant early-onset Alzheimer's disease (EOAD). We generated a human induced pluripotent stem cell (iPSC) line from fibroblasts of an EOAD patient carrying PSEN2 mutation (c.716 T > C) utilizing Sendai reprogramming kit. The resulting iPSC line carried patient-specific point mutation, exhibited typical iPSC morphology, retained a normal karyotype, expressed pluripotency markers, and could form embryoid bodies. Established iPSC line serve as valuable resource for EOAD disease pathogenesis modelling and drug screening.

2.
Front Plant Sci ; 15: 1346591, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38476680

RESUMO

Gardeniae Fructus (Zhizi) serves as both a medicinal and edible substance and finds widespread use in various industries. There are often two kinds of medicinal materials in the market: Zhizi and Shuizhizi. Typically, Zhizi with small, round fruit is used for medicinal purposes, while Shuizhizi, characterized by large, elongated fruit, is employed for dyeing. Market surveys have revealed a diverse range of Zhizi types, and modern research indicates that Shuizhizi contains rich chemical components and pharmacological activities. In this study, we collected 25 batches of Zhizi and Shuizhizi samples, categorizing them based on appearance into obovate and round fruits, with seven length grades (A-G). Using the ultra-high performance liquid chromatography coupled with triple quadrupole mass spectrometry (UHPLC-QQQ-MS/MS) method, we simultaneously quantified 13 main chemical components in fruits of Gardenia species. In addition, we compared the weight percentage of the pericarp, flesh, and seeds parts of samples with different traits, and quantified 13 chemical components in different parts. Results indicated that, aside from a few instances of overlapping fruit size ranges, Shuizhizi generally exhibits larger and longer dimensions than Zhizi. The weight proportion of the Shuizhizi pericarp is often higher than that of the Zhizi pericarp. Quantitative results highlighted significant differences in the chemical component content between Zhizi and Shuizhizi, with Shuizhizi generally containing higher levels of iridoids. The PCA and OPLS-DA analysis distinctly divided Shuizhizi and Zhizi, among which three iridoids, two organic acids, and one flavonoid made significant contributions to their classification. Cluster heatmap analysis also demonstrated complete separation between Zhizi and Shuizhizi, with clear distinctions among Zhizi samples from different origins. The distribution of the 13 chemical components in different Zhizi and Shuizhizi parts remained consistent, with iridoids and pigments concentrated in the seeds and flesh, and two organic acids and one flavonoid enriched in the pericarp. In summary, this study contributes valuable insights for classifying Zhizi and offers guidance on the rational use of Shuizhizi and the different parts of Zhizi.

3.
Plant Cell ; 36(6): 2176-2200, 2024 May 29.
Artigo em Inglês | MEDLINE | ID: mdl-38345432

RESUMO

Phosphorus is indispensable in agricultural production. An increasing food supply requires more efficient use of phosphate due to limited phosphate resources. However, how crops regulate phosphate efficiency remains largely unknown. Here, we identified a major quantitative trait locus, qPE19, that controls 7 low-phosphate (LP)-related traits in soybean (Glycine max) through linkage mapping and genome-wide association studies. We identified the gene responsible for qPE19 as GLYCEROPHOSPHORYL DIESTER PHOSPHODIESTERASE2 (GmGDPD2), and haplotype 5 represents the optimal allele favoring LP tolerance. Overexpression of GmGDPD2 significantly affects hormone signaling and improves root architecture, phosphate efficiency and yield-related traits; conversely, CRISPR/Cas9-edited plants show decreases in these traits. GmMyb73 negatively regulates GmGDPD2 by directly binding to its promoter; thus, GmMyb73 negatively regulates LP tolerance. GmGDPD2 physically interacts with GA 2-oxidase 1 (GmGA2ox1) in the plasma membrane, and overexpressing GmGA2ox1 enhances LP-associated traits, similar to GmGDPD2 overexpression. Analysis of double mutants for GmGDPD2 and GmGA2ox1 demonstrated that GmGDPD2 regulates LP tolerance likely by influencing auxin and gibberellin dose-associated cell division in the root. These results reveal a regulatory module that plays a major role in regulating LP tolerance in soybeans and is expected to be utilized to develop phosphate-efficient varieties to enhance soybean production, particularly in phosphate-deficient soils.


Assuntos
Regulação da Expressão Gênica de Plantas , Glycine max , Fosfatos , Proteínas de Plantas , Glycine max/genética , Glycine max/metabolismo , Fosfatos/metabolismo , Fosfatos/deficiência , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo , Fatores de Transcrição/genética , Fatores de Transcrição/metabolismo , Locos de Características Quantitativas/genética , Plantas Geneticamente Modificadas , Estudo de Associação Genômica Ampla
4.
J Alzheimers Dis ; 97(3): 1313-1322, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38217604

RESUMO

BACKGROUND: Comorbidities reduce quality of life for people with dementia and caregivers. Some comorbidities share a genetic basis with dementia. OBJECTIVE: The objective of this study is to assess comorbidity in patients with different dementia subtypes in order to better understand the pathogenesis of dementias. METHODS: A total of 298 patients with dementia were included. We collected some common comorbidities. We analyzed the differences in comorbidities among patients with dementia according to clinical diagnosis, age of onset (early-onset: < 65 and late-onset: ≥65 years old) and apolipoprotein (APOE) genotypes by using the univariate and multivariate approaches. RESULTS: Among 298 participants, there were 183 Alzheimer's disease (AD), 40 vascular dementia (VaD), 37 frontotemporal dementia (FTLD), 20 Lewy body dementia (LBD), and 18 other types of dementia. Based on age of onset, 156 cases had early-onset dementia and 142 cases had late-onset dementia. The most common comorbidities observed in all dementia patients were hyperlipidemia (68.1%), hypertension (39.9%), insomnia (21.1%), diabetes mellitus (19.5%), and hearing impairment (18.1%). The prevalence of hypertension and cerebrovascular disease was found to be higher in patients with VaD compared to those with AD (p = 0.002, p < 0.001, respectively) and FTLD (p = 0.028, p = 0.004, respectively). Additionally, patients with late-onset dementia had a higher burden of comorbidities compared to those with early-onset dementia. It was observed that APOE ɛ4/ɛ4 carriers were less likely to have insomnia (p = 0.031). CONCLUSIONS: Comorbidities are prevalent in patients with dementia, with hyperlipidemia, hypertension, insomnia, diabetes, and hearing impairment being the most commonly observed. Comorbidity differences existed among different dementia subtypes.


Assuntos
Doença de Alzheimer , Demência Vascular , Degeneração Lobar Frontotemporal , Perda Auditiva , Hiperlipidemias , Hipertensão , Distúrbios do Início e da Manutenção do Sono , Humanos , Idoso , Estudos Transversais , Distúrbios do Início e da Manutenção do Sono/epidemiologia , Qualidade de Vida , Doença de Alzheimer/patologia , Demência Vascular/epidemiologia , Comorbidade , Hipertensão/epidemiologia , Apolipoproteína E4/genética , Degeneração Lobar Frontotemporal/epidemiologia , Hiperlipidemias/epidemiologia , Perda Auditiva/epidemiologia
5.
J Med Genet ; 61(6): 543-548, 2024 May 21.
Artigo em Inglês | MEDLINE | ID: mdl-38228392

RESUMO

BACKGROUND: METHODS: The GRN mutations, especially of the loss of function type, are causative of frontotemporal dementia (FTD). However, several GRN variants can be found in other neurodegenerative diseases, such as Alzheimer's disease (AD) and Parkinson's disease. So far, there have been over 300 GRN mutations reported globally. However, the genetic spectrum and phenotypic characteristics have not been fully elucidated in Chinese population.The participants were from the dementia cohort of Peking Union Medical College Hospital (n=1945). They received history inquiry, cognitive evaluation, brain imaging and exome sequencing. The dementia subjects carrying the rare variants of the GRN were included in this study. Those with the pathogenic or likely pathogenic variants of other dementia-related genes were excluded. RESULTS: 14 subjects carried the rare variants of GRN. They were clinically diagnosed with behavioural variant of FTD (n=2), non-fluent/agrammatic variant primary progressive aphasia (PPA, n=3), semantic variant PPA (n=1), AD (n=6) and mixed dementia (n=2). 13 rare variants of GRN were found, including 6 novel variants (W49X, S226G, M152I, A91E, G79E and A303S). The most prevalent symptom was amnesia (85.7%, 12/14), followed by psychiatric and behavioural disorder (78.6%, 11/14). In terms of lobar atrophy, temporal atrophy/hypometabolism was the most common (85.7%, 12/14), followed by parietal atrophy/hypometabolism (78.6%, 11/14). CONCLUSION: The novel GRN variants identified in this study contribute to enrich the GRN mutation repertoire. There is phenotypic similarity and diversity among Chinese patients with the GRN mutations.


Assuntos
Demência Frontotemporal , Estudos de Associação Genética , Mutação , Progranulinas , Humanos , Progranulinas/genética , Masculino , Feminino , Idoso , Pessoa de Meia-Idade , Demência Frontotemporal/genética , Demência Frontotemporal/patologia , Estudos de Coortes , Demência/genética , Demência/patologia , Demência/epidemiologia , Povo Asiático/genética , Sequenciamento do Exoma , Fenótipo , China/epidemiologia , Predisposição Genética para Doença , População do Leste Asiático
6.
Int J Biol Macromol ; 255: 128218, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37992933

RESUMO

Peucedanum praeruptorum Dunn, a traditional Chinese medicine rich in coumarin, belongs to the Apiaceae family. A high-quality assembled genome of P. praeruptorum is lacking, which has posed obstacles to functional identification and molecular evolution studies of genes associated with coumarin production. Here, a chromosome-scale reference genome of P. praeruptorum, an important medicinal and aromatic plant, was first sequenced and assembled using Oxford Nanopore Technologies and Hi-C sequencing. The final assembled genome size was 1.83 Gb, with a contig N50 of 11.12 Mb. The entire BUSCO evaluation and second-generation read comparability rates were 96.0 % and 99.31 %, respectively. Furthermore, 99.91 % of the genome was anchored to 11 pseudochromosomes. The comparative genomic study revealed the presence of 18,593 orthogroups, which included 476 species-specific orthogroups and 1211 expanded gene families. Two whole-genome duplication (WGD) events and one whole-genome triplication (WGT) event occurred in P. praeruptorum. In addition to the γ-WGT shared by core eudicots or most eudicots, the first WGD was shared by Apiales, while the most recent WGD was unique to Apiaceae. Our study demonstrated that WGD events that occurred in Apioideae highlighted the important role of tandem duplication in the biosynthesis of coumarins and terpenes in P. praeruptorum. Additionally, the expansion of the cytochrome P450 monooxygenase, O-methyltransferase, ATP-binding cassette (ABC) transporter, and terpene synthase families may be associated with the abundance of coumarins and terpenoids. Moreover, we identified >170 UDP-glucosyltransferase members that may be involved in the glycosylation post-modification of coumarins. Significant gene expansion was observed in the ABCG, ABCB, and ABCC subgroups of the ABC transporter family, potentially facilitating the transmembrane transport of coumarins after bolting. The P. praeruptorum genome provides valuable insights into the machinery of coumarin biosynthesis and enhances our understanding of Apiaceae evolution.


Assuntos
Apiaceae , Cumarínicos , Cumarínicos/química , Sistema Enzimático do Citocromo P-450/genética , Apiaceae/genética , Apiaceae/química , Metiltransferases/genética , Cromossomos
7.
J Mol Neurosci ; 73(11-12): 1010-1016, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38135866

RESUMO

The disproportionate cortical atrophy is an established biomarker for the pathophysiological process of Alzheimer's disease (AD). However, the genetic basis underlying the cortical atrophy remains poorly defined. Herein, we aim to illustrate the effect of the Wnt target genes on the cortical volumes of AD patients. 82 sporadic AD patients were recruited. All the subjects had history survey, blood biochemical examination, cognitive assessment, MRI morphometry and whole exome sequencing. This report focused on 84 common variants (minor allele frequency > 0.01) of 32 Wnt target genes, including the APC, DAAM1, DACT1, DISC1, LATS2, TLR2, WDR61, and the AXIN, DVL, FZD, LRP, TCF/LEF, WNT family genes. The Wnt target genes showed asymmetric effects on the cortical volumes of AD patients. The right temporal/parietal/occipital cortices were more affected than left temporal/parietal/occipital cortices. Nevertheless, the reverse applied to the frontal cortex. The DACT1 affected the cortical thickness most, followed by the TCF3 and APC. The DACT1 rs698025-GG genotype displayed greater right temporal pole and left medial orbito-frontal gyrus than rs698025-GA genotype (2.4 ± 0.4 vs. 2.0 ± 0.6, P = 0.005; 5.2 ± 0.6 vs. 5.0 ± 0.6, P = 0.001). The brain region most influenced by the Wnt target genes was the right calcarine cortex. In conclusion, the common variants of the Wnt target genes exert asymmetric effects on the cortical volumes of AD patients. The Wnt signaling pathway may play a role in the cortical atrophy of AD patients.


Assuntos
Doença de Alzheimer , Humanos , Doença de Alzheimer/diagnóstico por imagem , Doença de Alzheimer/genética , Doença de Alzheimer/patologia , Encéfalo/patologia , Lobo Temporal , Lobo Frontal , Imageamento por Ressonância Magnética , Atrofia , Proteínas Serina-Treonina Quinases , Proteínas Supressoras de Tumor , Proteínas Nucleares , Proteínas Adaptadoras de Transdução de Sinal
8.
Ital J Pediatr ; 49(1): 155, 2023 Nov 19.
Artigo em Inglês | MEDLINE | ID: mdl-37981684

RESUMO

BACKGROUND: The pediatric genetic white matter disorders are characterized by a broad disease spectrum. Genetic testing is valuable in the diagnosis. However, there are few studies on the clinical and genetic spectrum of Chinese pediatric genetic white matter disorders. METHODS: The participants were enrolled from the cohort of Peking Union Medical College Hospital. They all received history collection, brain MRI and gene sequencing. Their neurologic complaints which were related to white matter disorders occurred before 18. Brain MRI indicated periventricular and/or deep white matter lesions, fazekas grade 2-3. RESULTS: Among the 13 subjects, there were 11 males and two females. The average age of onset was 10.0 ± 5.5 years old. The potential genetic variants were found in 84.6% (11/13) subjects. The ABCD1 showed the greatest mutation frequency (30.8%, 4/13). The EIF2B3 A151fs, EIF2B4 c.885 + 2T > G, EIF2B5 R129X and MPV17 Q142X were novel pathogenic/likely pathogenic variants. 100% (4/4) ABCD1 carriers were accompanied by visual impairment, whereas 100% (3/3) EIF2B carriers developed dysuria. 100% (4/4) ABCD1 carriers exhibited diffuse white matter hyperintensities mainly in the posterior cortical regions, while the EIF2B4 and EIF2B5 carriers were accompanied by cystic degeneration. CONCLUSION: There is genotypic and phenotypic heterogeneity among Chinese subjects with pediatric genetic white matter disorders. The knowledge of these clinical and genetic characteristics facilitates an accurate diagnosis of these diseases.


Assuntos
Leucoencefalopatias , Substância Branca , Masculino , Feminino , Humanos , Criança , Pré-Escolar , Adolescente , Substância Branca/diagnóstico por imagem , Substância Branca/patologia , População do Leste Asiático , Mutação , Leucoencefalopatias/diagnóstico por imagem , Leucoencefalopatias/genética , Imageamento por Ressonância Magnética
9.
Mol Biotechnol ; 2023 Oct 24.
Artigo em Inglês | MEDLINE | ID: mdl-37875653

RESUMO

Liver cirrhosis is one of the most prevalent chronic liver disorders with high mortality. We aimed to explore changed gut microbiome and urine metabolome in compensatory liver cirrhosis (CLC) patients, thus providing novel diagnostic biomarkers for CLC. Forty fecal samples from healthy volunteers (control: 19) and CLC patients (patient: 21) were undertaken 16S rDNA sequencing. Chromatography-mass spectrometry was performed on 40 urine samples (20 controls and 20 patients). Microbiome and metabolome data were separately analyzed using corresponding bioinformatics approaches. The diagnostic model was constructed using the least absolute shrinkage and selection operator regression. The optimal diagnostic model was determined by five-fold cross-validation. Pearson correlation analysis was applied to clarify the relations among the diagnostic markers. 16S rDNA sequencing analyses showed changed overall alpha diversity and beta diversity in patient samples compared with those of controls. Similarly, we identified 841 changed metabolites. Pathway analysis revealed that the differential metabolites were mainly associated with pathways, such as tryptophan metabolism, purine metabolism, and steroid hormone biosynthesis. A 9-maker diagnostic model for CLC was determined, including 7 microorganisms and 2 metabolites. In this model, there were multiple correlations between microorganisms and metabolites. Subdoligranulum, Agathobacter, norank_f_Eubacterium_coprostanoligenes_group, Butyricicoccus, Lachnospiraceae_UCG_004, and L-2,3-Dihydrodipicolinate were elevated in CLC patients, whereas Blautia, Monoglobus, and 5-Acetamidovalerate were reduced. A novel diagnostic model for CLC was constructed and verified to be reliable, which provides new strategies for the diagnosis and treatment of CLC.

10.
Front Plant Sci ; 14: 1179915, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37600207

RESUMO

The genus Peucedanum L. (Apiaceae) is a large group comprising more than 120 species distributed worldwide. Many plants of the genus Peucedanum have been studied and used in traditional Chinese medicine. In 2020, a new species, Peucedanum huangshanense Lu Q. Huang, H. S. Peng & S. S. Chu, was found in the Huangshan Mountains of Anhui Province, China. However, little is known about its medicinal properties. Thus, the objective of this study is to explore the potential medicinal value of P. huangshanense and its relationship with other Peucedanum species. Through textual research on illustrations of Qianhu in Bencao literature, it can be inferred that at least five species of genus Peucedanum have been used in Chinese medicine. Therefore, we chose these five species of Peucedanum and P. huangshanense together for subsequent research. We conducted morphological, chloroplast genome, and chemical analyses of six Peucedanum species, including the newly discovered P. huangshanense. The chloroplast genomes of Peucedanum showed a typical tetrad structure, and the gene structure and content were similar and conservative. There were significant differences in genome size and the expansion of the inverted repeat boundary. Through nucleotide polymorphism analysis, we screened 14 hotspot mutation regions that have the potential to be used as specific molecular markers for the taxonomy of Peucedanum. Our results showed an inversion of the trnD-trnY-trnE gene in the P. huangshanense chloroplast genome, which can be developed as a specific molecular marker for species identification. Phylogenetic analysis showed that the phylogenetic trees had high support and resolution, which strongly supports the view that Peucedanum is not a monophyletic group. P. huangshanense had the closest genetic relationship to P. ampliatum K. T. Fu, followed by P. harry-smithii Fedde ex Wolff. Furthermore, the main coumarins of P. huangshanense were most similar to those of P. japonicum Thunb. and P. harry-smithii. In summary, our research lays a foundation for the systematic classification of Peucedanum and sheds light on the medicinal value of P. huangshanense.

11.
BMC Genomics ; 24(1): 494, 2023 Aug 28.
Artigo em Inglês | MEDLINE | ID: mdl-37641045

RESUMO

BACKGROUND: Soybean is one of the most important oil crops in the world. The domestication of wild soybean has resulted in significant changes in the seed oil content and seed size of cultivated soybeans. To better understand the molecular mechanisms of seed formation and oil content accumulation, WDD01514 (E1), ZYD00463 (E2), and two extreme progenies (E23 and E171) derived from RILs were used for weighted gene coexpression network analysis (WGCNA) combined with transcriptome analysis. RESULTS: In this study, both seed weight and oil content in E1 and E171 were significantly higher than those in E2 and E23, and 20 DAF and 30 DAF may be key stages of soybean seed oil content accumulation and weight increase. Pathways such as "Photosynthesis", "Carbon metabolism", and "Fatty acid metabolism", were involved in oil content accumulation and grain formation between wild and cultivated soybeans at 20 and 30 DAF according to RNA-seq analysis. A total of 121 oil content accumulation and 189 seed formation candidate genes were screened from differentially expressed genes. WGCNA identified six modules related to seed oil content and seed weight, and 76 candidate genes were screened from modules and network. Among them, 16 genes were used for qRT-PCR and tissue specific expression pattern analysis, and their expression-levels in 33-wild and 23-cultivated soybean varieties were subjected to correlation analysis; some key genes were verified as likely to be involved in oil content accumulation and grain formation. CONCLUSIONS: Overall, these results contribute to an understanding of seed lipid metabolism and seed size during seed development, and identify potential functional genes for improving soybean yield and seed oil quantity.


Assuntos
Fabaceae , Glycine max , Glycine max/genética , Sementes/genética , Perfilação da Expressão Gênica , Grão Comestível , Óleos de Plantas
12.
Plant Commun ; 4(6): 100675, 2023 Nov 13.
Artigo em Inglês | MEDLINE | ID: mdl-37608548

RESUMO

Heat stress caused by global warming requires the development of thermotolerant crops to sustain yield. It is necessary to understand the molecular mechanisms that underlie heat tolerance in plants. Strigolactones (SLs) are a class of carotenoid-derived phytohormones that regulate plant development and responses to abiotic or biotic stresses. Although SL biosynthesis and signaling processes are well established, genes that directly regulate SL biosynthesis have rarely been reported. Here, we report that the MYB-like transcription factor AtMYBS1/AtMYBL, whose gene expression is repressed by heat stress, functions as a negative regulator of heat tolerance by directly inhibiting SL biosynthesis in Arabidopsis. Overexpression of AtMYBS1 led to heat hypersensitivity, whereas atmybs1 mutants displayed increased heat tolerance. Expression of MAX1, a critical enzyme in SL biosynthesis, was induced by heat stress and downregulated in AtMYBS1-overexpression (OE) plants but upregulated in atmybs1 mutants. Overexpression of MAX1 in the AtMYBS1-OE background reversed the heat hypersensitivity of AtMYBS1-OE plants. Loss of MAX1 function in the atmyb1 background reversed the heat-tolerant phenotypes of atmyb1 mutants. Yeast one-hybrid assays, chromatin immunoprecipitation‒qPCR, and transgenic analyses demonstrated that AtMYBS1 directly represses MAX1 expression through the MYB binding site in the MAX1 promoter in vivo. The atmybs1d14 double mutant, like d14 mutants, exhibited hypersensitivity to heat stress, indicating the necessary role of SL signaling in AtMYBS1-regulated heat tolerance. Our findings provide new insights into the regulatory network of SL biosynthesis, facilitating the breeding of heat-tolerant crops to improve crop production in a warming world.


Assuntos
Arabidopsis , Termotolerância , Arabidopsis/metabolismo , Compostos Heterocíclicos com 3 Anéis/metabolismo , Lactonas/metabolismo , Plantas/metabolismo , Termotolerância/genética
13.
Semin Arthritis Rheum ; 63: 152235, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37385915
14.
Hortic Res ; 10(5): uhad047, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37213683

RESUMO

Fallopia multiflora (Thunb.) Harald, a vine belonging to the Polygonaceae family, is used in traditional medicine. The stilbenes contained in it have significant pharmacological activities in anti-oxidation and anti-aging. This study describes the assembly of the F. multiflora genome and presents its chromosome-level genome sequence containing 1.46 gigabases of data (with a contig N50 of 1.97 megabases), 1.44 gigabases of which was assigned to 11 pseudochromosomes. Comparative genomics confirmed that F. multiflora shared a whole-genome duplication event with Tartary buckwheat and then underwent different transposon evolution after separation. Combining genomics, transcriptomics, and metabolomics data to map a network of associated genes and metabolites, we identified two FmRS genes responsible for the catalysis of one molecule of p-coumaroyl-CoA and three molecules of malonyl-CoA to resveratrol in F. multiflora. These findings not only serve as the basis for revealing the stilbene biosynthetic pathway but will also contribute to the development of tools for increasing the production of bioactive stilbenes through molecular breeding in plants or metabolic engineering in microbes. Moreover, the reference genome of F. multiflora is a useful addition to the genomes of the Polygonaceae family.

15.
J Alzheimers Dis ; 93(2): 509-519, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37038812

RESUMO

BACKGROUND: Arterial spin labeling (ASL) is helpful in early diagnosis and differential diagnosis of Alzheimer's disease (AD), with advantages including no exposure to radioactivity, no injection of a contrast agent, more accessible, and relatively less expensive. OBJECTIVE: To establish the perfusion pattern of different dementia in Chinese population and evaluate the effectiveness of ASL in differentiating AD from cognitive unimpaired (CU), mild cognitive impairment (MCI), and frontotemporal dementia (FTD). METHODS: Four groups of participants were enrolled, including AD, FTD, MCI, and CU based on clinical diagnosis from PUMCH dementia cohort. ASL image was collected using 3D spiral fast spin echo-based pseudo-continuous ASL pulse sequence with background suppression and a high resolution T1-weighted scan covering the whole brain. Data processing was performed using Dr. Brain Platform to get cerebral blood flow (ml/100g/min) in every region of interest cortices. RESULTS: Participants included 66 AD, 26 FTD, 21 MCI, and 21 CU. Statistically, widespread hypoperfusion neocortices, most significantly in temporal-parietal-occipital cortices, but not hippocampus and subcortical nucleus were found in AD. Hypoperfusion in parietal lobe was most significantly associated with cognitive decline in AD. Hypoperfusion in parietal lobe was found in MCI and extended to adjacent temporal, occipital and posterior cingulate cortices in AD. Significant reduced perfusion in frontal and temporal cortices, including subcortical nucleus and anterior cingulate cortex were found in FTD. Hypoperfusion regions were relatively symmetrical in AD and left predominant especially in FTD. CONCLUSION: Specific patterns of ASL hypoperfusion were helpful in differentiating AD from CU, MCI, and FTD.


Assuntos
Doença de Alzheimer , Disfunção Cognitiva , Demência Frontotemporal , Humanos , Doença de Alzheimer/diagnóstico , Circulação Cerebrovascular/fisiologia , Estudos Transversais , Demência Frontotemporal/diagnóstico , Imageamento por Ressonância Magnética/métodos , Espectroscopia de Ressonância Magnética , Marcadores de Spin
16.
Food Res Int ; 164: 112314, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36737903

RESUMO

Chaenomeles speciosa fruit is a homologous medicine and food plant with a long history of multiple uses. It could be harvested near maturity and last for a long time. However, the optimal harvest strategy of Chaenomeles speciosa for various uses is currently unavailable. Here, untargeted metabolome at different harvest times during maturation was investigated for the first time, and 896 metabolites, including sugars, organic acids, amino acids, and phenylpropanoids, were identified. Optimal harvesting methods were proposed for different purposes. During the early maturation stages (before 105 days after full bloom), Ch. speciosa fruit could be harvested as Chinesemedicine. Whereas as snacks and food, Ch. speciosa fruit might be harvested at late maturity (after 120 days after full bloom). In addition, the overall network was revealed by integrating full-length Iso-seq and transcriptomics (RNA-seq) to investigate the association between quality-associated metabolites and Chaenomeles speciosa fruit gene expression during maturation. A few putative genes were captured via screening, dissecting and correlation analysis with the quality-associated metabolites (including d-glucose, catechin, gallocatechin, and succinic acid). Overall, in addition to providing a harvesting strategy for food and medicine, we also investigated the metabolism and gene expression pattern of Chaenomeles speciosa fruit during maturation. This comprehensive data and analyses laid the foundation for further investigating potential regulatory mechanisms during harvest and provided a new possibility for its development and utilization.


Assuntos
Frutas , Rosaceae , Frutas/química , Perfilação da Expressão Gênica , Ácidos/análise , Metaboloma , Rosaceae/genética , Rosaceae/química
18.
Plant Cell Environ ; 46(2): 592-606, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36419232

RESUMO

Phosphorus (P) deficiency seriously affects plant growth and development and ultimately limits the quality and yield of crops. Here, a new P efficiency-related major quantitative trait locus gene, GmEIL4 (encoding an ethylene-insensitive 3-like 1 protein), was cloned at qP2, which was identified by linkage analysis and genome-wide association study across four environments. Overexpressing GmEIL4 significantly improved the P uptake efficiency by increasing the number, length and surface area of lateral roots of hairy roots in transgenic soybeans, while interfering with GmEIL4 resulted in poor root phenotypic characteristics compared with the control plants under low P conditions. Interestingly, we found that GmEIL4 interacted with EIN3-binding F box protein 1 (GmEBF1), which may regulate the root response to low P stress. We conclude that the expression of GmEIL4 was induced by low-P stress and that overexpressing GmEIL4 improved P accumulation by regulating root elongation and architecture. Analysis of allele variation of GmEIL4 in 894 soybean accessions suggested that GmEIL4 is undergoing artificial selection during soybean evolution, which will benefit soybean production. Together, this study further elucidates how plants respond to low P stress by modifying root structure and provides insight into the great potential of GmEIL4 in crop P-efficient breeding.


Assuntos
Glycine max , Raízes de Plantas , Estudo de Associação Genômica Ampla , Fósforo/metabolismo , Raízes de Plantas/metabolismo , Locos de Características Quantitativas/genética , Glycine max/metabolismo , Proteínas de Plantas/metabolismo
19.
Int J Biol Macromol ; 225: 1543-1554, 2023 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-36436603

RESUMO

Atractylodes lancea (Thunb.) DC. is an important medicinal plant mainly distributed in China. A. lancea is rich in volatile oils and has a significant effect on various diseases, including coronavirus disease 2019 (COVID-19). Based on the signature constituents of volatile oils, A. lancea is divided into two chemotypes: the Dabieshan and Maoshan chemotype. Gas chromatography-mass spectrometry (GC-MS) results revealed that the hinesol and ß-eudesmol contents in the Dabieshan chemotype were higher than those in the Maoshan chemotype. Next-generation sequencing (NGS) and single-molecule real-time (SMRT) sequencing technologies were combined to investigate the molecular mechanisms of sesquiterpenoid biosynthesis in A. lancea. A total of 42 differentially expressed genes (DEGs) for terpenoid biosynthesis were identified in the two chemotype groups, and nine full-length terpene synthase (TPS) genes were identified. Subcellular localization revealed that AlTPS1 and AlTPS2 proteins were localized in the nucleus and endoplasmic reticulum. They use FPP as a substrate to generate sesquiterpenoids. AlTPS1 catalyzes biosynthesis of elemol while AlTPS2 is observed to perform ß-farnesene synthase activity. This study provides information for understanding the differences in the accumulation of terpenoids in two chemotypes of A. lancea and lays a foundation for further elucidation of the molecular mechanism of sesquiterpenoid biosynthesis.


Assuntos
Atractylodes , COVID-19 , Óleos Voláteis , Sesquiterpenos , Atractylodes/química , Sesquiterpenos/metabolismo , Óleos Voláteis/química , Perfilação da Expressão Gênica
20.
Plant Genome ; 16(1): e20281, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36345561

RESUMO

Increasing soybean [Glycine max (L.) Merr.] yield has become a worldwide scientific problem in the world. Many studies have shown that ubiquitination plays a key role in stress response and yield formation. In the UniProtKB database, 2,429 ubiquitin-related proteins were predicted in soybean, however, <20 were studied. One key way to address this lack of progress in increasing soybean yield will be a deeper understanding of the ubiquitin-proteasome system (UPS) in soybean. In this review, we summarized the current knowledge about soybean ubiquitin-related proteins and discussed the method of combining phenotype, mutant library, transgenic system, genomics, and proteomics approaches to facilitate the exploration of the soybean UPS. We also proposed the strategy of applying the UPS in soybean improvement based on related studies in model plants. Our review will be helpful for soybean scientists to learn current research progress of the soybean UPS and further lay a theoretical reference for the molecular improvement of soybean in future research by use of this knowledge.


Assuntos
Glycine max , Ubiquitina , Glycine max/genética , Ubiquitina/metabolismo , Complexo de Endopeptidases do Proteassoma/metabolismo , Genômica , Citoplasma
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