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1.
Yi Chuan ; 46(5): 421-430, 2024 May 20.
Artículo en Inglés | MEDLINE | ID: mdl-38763776

RESUMEN

Inner Mongolia cashmere goat is an excellent livestock breed formed through long-term natural selection and artificial breeding, and is currently a world-class dual-purpose breed producing cashmere and meat. Multi trait animal model is considered to significantly improve the accuracy of genetic evaluation in livestock and poultry, enabling indirect selection between traits. In this study, the pedigree, genotype, environment, and phenotypic records of early growth traits of Inner Mongolia cashmere goats were used to build multi trait animal model., Then three methods including ABLUP, GBLUP, and ssGBLUP wereused to estimate the genetic parameters and genomic breeding values of early growth traits (birth weight, weaning weight, average daily weight gain before weaning, and yearling weight). The accuracy and reliability of genomic estimated breeding value are further evaluated using the five fold cross validation method. The results showed that the heritability of birth weight estimated by three methods was 0.13-0.15, the heritability of weaning weight was 0.13-0.20, heritability of daily weight gain before weaning was 0.11-0.14, and the heritability of yearling weight was 0.09-0.14, all of which belonged to moderate to low heritability. There is a strong positive genetic correlation between weaning weight and daily weight gain before weaning, daily weight gain before weaning and yearling weight, with correlation coefficients of 0.77-0.79 and 0.56-0.67, respectively. The same pattern was found in phenotype correlation among traits. The accuracy of the estimated breeding values by ABLUP, GBLUP, and ssGBLUP methods for birth weight is 0.5047, 0.6694, and 0.7156, respectively; the weaning weight is 0.6207, 0.6456, and 0.7254, respectively; the daily weight gain before weaning was 0.6110, 0.6855, and 0.7357 respectively; and the yearling weight was 0.6209, 0.7155, and 0.7756, respectively. In summary, the early growth traits of Inner Mongolia cashmere goats belong to moderate to low heritability, and the speed of genetic improvement is relatively slow. The genetic improvement of other growth traits can be achieved through the selection of weaning weight. The ssGBLUP method has the highest accuracy and reliability in estimating genomic breeding value of early growth traits in Inner Mongolia cashmere goats, and is significantly higher than that from ABLUP method, indicating that it is the best method for genomic breeding of early growth weight in Inner Mongolia cashmere goats.


Asunto(s)
Cruzamiento , Cabras , Animales , Cabras/genética , Cabras/crecimiento & desarrollo , Fenotipo , Genómica/métodos , Femenino , Masculino , Peso al Nacer/genética , Modelos Genéticos
2.
Angew Chem Int Ed Engl ; 63(11): e202318989, 2024 Mar 11.
Artículo en Inglés | MEDLINE | ID: mdl-38221223

RESUMEN

As bulky pollutants in industrial and agricultural wastewater, nitrate and formaldehyde pose serious threats to the human health and ecosystem. Current purification technologies including chemical and bio-/photo-/electro-chemical methods, are generally high-cost, time-consuming, or energy-intensive. Here, we report a novel formaldehyde-nitrate battery by pairing anodic formaldehyde oxidation with cathodic nitrate reduction, which simultaneously enables wastewater purification, electricity generation, and the production of high-value-added ammonia and formate. As a result, the formaldehyde-nitrate battery remarkably exhibits an open-circuit voltage of 0.75 V, a peak power density of 3.38 mW cm-2 and the yield rates of 32.7 mg h-1 cm-2 for ammonia and 889.4 mg h-1 cm-2 for formate. In a large-scale formaldehyde-nitrate battery (25 cm2 ), 99.9 % of nitrate and 99.8 % of formaldehyde are removed from simulated industrial wastewater and the electricity of 2.03 W⋅h per day is generated. Moreover, the design of such a multi-functional battery is universally applicable to the coupling of NO3 - or NO2 - reduction with various aldehyde oxidization, paving a new avenue for wastewater purification and chemical manufacturing.

3.
J Magn Reson Imaging ; 58(5): 1638-1648, 2023 11.
Artículo en Inglés | MEDLINE | ID: mdl-36929220

RESUMEN

BACKGROUND: As lymphovascular space invasion (LVSI) was closely related to lymph node metastasis and prognosis, the preoperative assessment of LVSI in early-stage cervical cancer is crucial for patients. PURPOSE: To develop and validate nomogram based on multimodal MR radiomics to assess LVSI status in cervical cancer patients. STUDY TYPE: Retrospective. POPULATION: The study included 168 cervical cancer patients, of whom 129 cases (age 51.36 ± 9.99 years) from institution 1 were included as the training cohort and 39 cases (age 52.59 ± 10.23 years) from institution 2 were included as the external test cohort. FIELD STRENGTH/SEQUENCE: There were 1.5 T and 3.0 T MRI scans (T1-weighted imaging [T1WI], fat-saturated T2-weighted imaging [FS-T2WI], and contrast-enhanced [CE]). ASSESSMENT: Six machine learning models were built and selected to construct the radiomics signature. The nomogram model was constructed by combining the radiomics signature with the clinical signature, which was then validated for discrimination, calibration, and clinical usefulness. STATISTICAL TESTS: The clinical characteristics were compared using t-tests, Mann-Whitney U tests, or chi-square tests. The Spearman and LASSO methods were used to select radiomics features. The receiver operating characteristic (ROC) analysis was performed, and the area under the curve (AUC), accuracy, sensitivity, and specificity were calculated. RESULTS: The logistic regression (LR) model performed best in each sequence. The AUC of CE-T1-T2WI-combined was the highest in the LR model, with an AUC of 0.775 (95% CI: 0.570-0.979) in external test cohort. The nomogram showed high predictive performance in the training (AUC: 0.883 [95% CI: 0.823-0.943]) and test cohort (AUC: 0.830 [95% CI: 0.657-1.000]) for predicting LVSI. Decision curve analysis demonstrated that the nomogram was clinically useful. DATA CONCLUSION: Our findings suggest that the proposed nomogram model based on multimodal MRI of CE T1WI-T2WI-combined could be used to assess LVSI status in early cervical cancer. EVIDENCE LEVEL: 4. TECHNICAL EFFICACY: Stage 2.


Asunto(s)
Neoplasias del Cuello Uterino , Femenino , Humanos , Adulto , Persona de Mediana Edad , Estudios Retrospectivos , Neoplasias del Cuello Uterino/diagnóstico por imagen , Neoplasias del Cuello Uterino/cirugía , Neoplasias del Cuello Uterino/patología , Imagen por Resonancia Magnética/métodos , Cuello del Útero/patología , Nomogramas
4.
World J Surg Oncol ; 21(1): 239, 2023 Aug 05.
Artículo en Inglés | MEDLINE | ID: mdl-37542314

RESUMEN

BACKGROUND: As digital medicine has exerted profound influences upon diagnosis and treatment of hepatobiliary diseases, our study aims to investigate the accuracy of three-dimensional visualization and evaluation (3DVE) system in assessing the resectability of hilar cholangiocarcinoma (hCCA), and explores its potential clinical value. MATERIALS AND METHODS: The discovery cohort, containing 111 patients from April 2013 to December 2019, was retrospectively included to determine resectability according to revised criteria for unresectability of hCCA. 3D visualization models were reconstructed to evaluate resectability parameters including biliary infiltration, vascular involvement, hepatic atrophy and metastasis. Evaluation accuracy were compared between contrast-enhanced CT and 3DVE. Logistic analysis was performed to identify independent risk factors of R0 resection. A new comprehensive 3DVE classification of hCCA based on factors influencing resectability was proposed to investigate its role in predicting R0 resection and prognosis. The main outcomes were also analyzed in cohort validation, including 34 patients from January 2020 to August 2022. RESULTS: 3DVE showed an accuracy rate of 91% (95%CI 83.6-95.4%) in preoperatively evaluating hCCA resectability, significantly higher than 81% (95%CI 72.8-87.7%) of that of CT (p = 0.03). By multivariable analysis, hepatic artery involvement in 3DVE was identified an independent risk factor for R1 or R2 resection (OR = 3.5, 95%CI 1.4,8.8, P < 0.01). New 3DVE hCCA classification was valuable in predicting patients' R0 resection rate (p < 0.001) and prognosis (p < 0.0001). The main outcomes were internally validated. CONCLUSIONS: 3DVE exhibited a better efficacy in evaluating hCCA resectability, compared with contrast-enhanced CT. Preoperative 3DVE demonstrated hepatic artery involvement was an independent risk factor for the absence of R0 margin. 3DVE classification of hCCA was valuable in clinical practice.


Asunto(s)
Neoplasias de los Conductos Biliares , Colangiocarcinoma , Tumor de Klatskin , Humanos , Tumor de Klatskin/diagnóstico por imagen , Tumor de Klatskin/cirugía , Tumor de Klatskin/patología , Colangiocarcinoma/diagnóstico por imagen , Colangiocarcinoma/cirugía , Colangiocarcinoma/patología , Imagenología Tridimensional , Estudios Retrospectivos , Neoplasias de los Conductos Biliares/diagnóstico por imagen , Neoplasias de los Conductos Biliares/cirugía , Neoplasias de los Conductos Biliares/patología , Conductos Biliares Intrahepáticos/diagnóstico por imagen , Conductos Biliares Intrahepáticos/cirugía , Conductos Biliares Intrahepáticos/patología
5.
Zhongguo Zhong Yao Za Zhi ; 48(9): 2298-2306, 2023 May.
Artículo en Zh | MEDLINE | ID: mdl-37282858

RESUMEN

Tanshinones are one of the main effective components of Salvia miltiorrhiza, which play important roles in the treatment of cardiovascular diseases. Microbial heterogony production of tanshinones can provide a large number of raw materials for the production of traditional Chinese medicine(TCM) preparations containing S. miltiorrhiza, reduce the extraction cost, and relieve the pressure of clinical medication. The biosynthetic pathway of tanshinones contains multiple P450 enzymes, and the catalytic element with high efficiency is the basis of microbial production of tanshinones. In this study, the protein modification of CYP76AK1, a key P450-C20 hydroxylase in tanshinone pathway, was researched. The protein modeling methods SWISS-MODEL, Robetta, and AlphaFold2 were used, and the protein model was analyzed to obtain the reliable protein structure. The semi-rational design of mutant protein was carried out by molecular docking and homologous alignment. The key amino acid sites affecting the oxidation activity of CYP76AK1 were identified by molecular docking. The function of the obtained mutations was studied with yeast expression system, and the CYP76AK1 mutations with continuous oxidation function to 11-hydroxysugiol were obtained. Four key amino acid sites that affected the oxidation acti-vity were analyzed, and the reliability of three protein modeling methods was analyzed according to the mutation results. The effective protein modification sites of CYP76AK1 were reported for the first time in this study, which provides a catalytic element for different oxidation activities at C20 site for the study of the synthetic biology of tanshinones and lays a foundation for the analysis of the conti-nuous oxidation mechanism of P450-C20 modification.


Asunto(s)
Oxidorreductasas , Salvia miltiorrhiza , Vías Biosintéticas , Simulación del Acoplamiento Molecular , Reproducibilidad de los Resultados , Salvia miltiorrhiza/química , Aminoácidos/metabolismo , Raíces de Plantas/genética
6.
Cell Biochem Funct ; 40(8): 888-902, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-36121195

RESUMEN

Two yeast forkhead transcription factors Fkh1 and Fkh2 regulate the transcription of CLB2 cluster genes important for mitosis. Both proteins contain a DNA-binding domain (DBD) and a forkhead-associated domain (FHAD), which are essential for ternary complex formation with transcription factor Mcm1, the transcription of CLB2 cluster genes and the physical interaction with Ndd1 and Clb2. Fkh2 also contains an additional C' domain that contains six consensus Cdk phosphorylation sites, but the function of this domain is dispensable. Here, we found new roles of the DBD, the FHAD, and the C' domain of Fkh1 and Fkh2 in cellular functions. The Fkh2 DBD determines the genetic interaction with NDD1, while both the FHAD and DBD of Fkh1 or Fkh2 determine cell morphology and stability of their own transcripts. Both HFADs, but not DBDs, also mediate physical interaction between Fkh1 and Fkh2. DBD and HFAD of Fkh1 and DBD, but not HFAD, of Fkh2 are also fundamental for nuclear localization. However, the Fkh2-specific C' domain has no role in these aspects except in the stability of some fkh mutant transcripts, which is either increased or decreased in the presence of this domain. These findings reveal that Fkh1 and Fkh2 have multiple cellular functions and function mainly via their DBD and FHAD through a domain-controlled feedback regulation mechanism.


Asunto(s)
Proteínas de Saccharomyces cerevisiae , Proteínas de Saccharomyces cerevisiae/genética , Proteínas de Saccharomyces cerevisiae/metabolismo , Proteínas de Ciclo Celular/metabolismo , Saccharomyces cerevisiae/genética , Saccharomyces cerevisiae/metabolismo , Factores de Transcripción Forkhead/genética , ADN/metabolismo
7.
Minim Invasive Ther Allied Technol ; 31(2): 230-237, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-32940092

RESUMEN

OBJECTIVE: To investigate the effect of laparoscopic surgery in colorectal cancer (CRC) patients with natural orifice specimen extraction (NOSE) on the recovery and quality of life (QOL) of patients. MATERIAL AND METHODS: Ninety-two eligible patients were randomly assigned into two groups: the traditional laparoscopy group (L group, n = 46) and the laparoscopic transanal specimen extraction group (NL group, n = 46). General data, surgery-related indicators, postoperative recovery, and prognosis were compared and analyzed between the two groups. RESULTS: A total of 46 patients in each group were enrolled in this study. The general data and surgery-related indicators were comparable between the two groups (all p > .05). There were no significant differences in the time of first flatus, bleeding, obstruction, constipation, and infectious complications between the two groups (all p > .05). The differences in the incidence of postoperative diarrhea, pain degree, and satisfaction on the aesthetics of the abdominal wall showed significant differences (χ2 = 6.133, p = .013; χ2 = 12.116, p = .017; χ2 = 13.463, p = .004). The postoperative follow-up time was 3-53 months. There were no significant differences in the postoperative hospital stay, medical costs, hospital readmission rate, incidence of incisional hernia, overall survival, disease-free survival, and QOL between the two groups (all p > .05). Conclusion: Laparoscopic surgery with NOSE for eligible patients with CRC was a feasible choice.


Asunto(s)
Neoplasias Colorrectales , Laparoscopía , Cirugía Endoscópica por Orificios Naturales , Neoplasias Colorrectales/cirugía , Humanos , Tiempo de Internación , Complicaciones Posoperatorias/epidemiología , Pronóstico , Calidad de Vida , Resultado del Tratamiento
8.
Zhongguo Zhong Yao Za Zhi ; 47(16): 4347-4357, 2022 Aug.
Artículo en Zh | MEDLINE | ID: mdl-36046861

RESUMEN

Paeoniflorin, a representative pinane monoterpene glycoside, is the main active component and quality index of Paeoniae Radix Alba and Paeoniae Radix Rubra.The possible biosynthesis of paeoniflorin is as follows: GPP is derived from mevalonate(MVA) and/or 2-C-methyl-D-erythritol 4-phosphate(MEP) pathway(s) followed by the catalysis with terpene synthase, cytochrome P450(CYP450), UDP-glucuronosyltransferase(UGT), and acyltransferase(AT), respectively.This study aims to explore the genes rela-ted to the biosynthesis of paeoniflorin.To be specific, the cDNA libraries for flowers, leaves, and roots of Paeonia lactiflora were established and sequenced.A total of 30 609 open reading frames(ORFs) were yielded.Through functional annotation and expression analysis of all CYP450 genes in the transcriptome, 11 CYP450 genes belonging to CYP71 A and CYP71 D subfamilies and showing expression trend consistent with monoterpene synthase PlPIN that may be involved in paeoniflorin biosynthesis were screened out.Subsequently, 7 UGT genes and 9 AT genes demonstrating the expression trend consistent with PlPIN which were possibly involved in paeoniflorin biosynthesis were further screened by functional annotation analysis, full-length sequence analysis, expression analysis, and phylogeny analysis.This study provided a systematic screening method with smaller number of candidate genes, thus reducing the workload of functional gene verification.The result laid a foundation for analyzing the biosynthesis pathway of paeoniflorin and the formation mechanism.


Asunto(s)
Paeonia , Hidrocarburos Aromáticos con Puentes , Perfilación de la Expresión Génica , Glucósidos/genética , Glucósidos/metabolismo , Monoterpenos/metabolismo , Paeonia/genética
9.
Angew Chem Int Ed Engl ; 61(12): e202116370, 2022 Mar 14.
Artículo en Inglés | MEDLINE | ID: mdl-35001470

RESUMEN

The available processes for removing acetylene impurities from crude ethylene are tremendously energy-intensive. Herein, we demonstrate a novel aqueous Zn-C2 H2 battery, which not only switches energy-consuming acetylene removal to electricity generation, but also reduces acetylene to ethylene through a unique discharge mechanism: C2 H2 +Zn+H2 O→C2 H4 +ZnO. Under a pure acetylene stream, this Zn-C2 H2 battery exhibits an open circuit potential of 1.14 V and a peak power density of 2.2 mW cm-2 , which exceed those of reported Zn-CO2 batteries. Even for simulated crude ethylene, the Zn-C2 H2 battery manifests an acetylene conversion of 99.97 % and continuously produces polymer-grade ethylene with only ≈3 ppm acetylene during a long-term discharge operation. Such a functional battery is universally appliable for reducing other alkynes and generating electricity. Therefore, this work provides an effective strategy for green ethylene purification and the design of functional batteries.

10.
Biotechnol Bioeng ; 118(8): 3105-3116, 2021 08.
Artículo en Inglés | MEDLINE | ID: mdl-34002369

RESUMEN

Many microRNAs (miRNAs) have been predicted from small RNA sequencing data, but little was experimentally verified due to the lack of effective methods. Here, we developed a simple and reliable dual gene expression cassette vector-based method to verify predicted plant miRNAs. We cloned osa-miR528 as a known miRNA, hvu-miRX as a predicted miRNA and TaDREB3 open reading frame as a non-miRNA into the first gene expression cassette and fused their complementary or noncomplementary sequences as predicted target or nontarget sequences with the 3' untranslated region of green fluorescent protein (GFP) in the second one. When these constructs were bombarded into plant cells, only the construct containing both osa-miR528 or hvu-miRX and its complementary sequence did not generate green fluorescence. Stem-loop reverse-transcription polymerase chain reaction detected mature osa-miR528 or mature hvu-miRX in the cells, while northern analysis showed that GFP messenger RNA from the construct containing both osa-miR528 or hvu-miRX and its complementary sequence was degraded. Taken together, the results indicate that hvu-miRX is an authentic miRNA like osa-miR528, miRNA's complementary sequence is its target sequence, and both osa-miR528 and hvu-miRX silenced the GFP expression via a cleavage mode. Our method thus facilitates the verification of predicted plant miRNAs, target sequences, and function modes.


Asunto(s)
Vectores Genéticos , Hordeum/genética , MicroARNs/genética , Nicotiana/genética , ARN de Planta/genética , Análisis de Secuencia de ARN , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa
11.
Zhongguo Zhong Yao Za Zhi ; 44(5): 927-934, 2019 Mar.
Artículo en Zh | MEDLINE | ID: mdl-30989851

RESUMEN

The dynamic accumulation rule of active substances in medicinal plants is of great value not only for medicinal material production and application,but also for the genetic mechanism study on the formation of medicinal ingredients,especially vital to guide medicinal material collection as well as experiment material selection and candidate gene screening in the analysis of biosynthesis pathway. This study investigated the accumulation of curcumins and terpenoids,and the biosynthesis of these metabolites,which are the active metabolites in Curcuma longa,a commonly used traditional Chinese medicine. Rhizoma of C. longa from leaf growing period,rhizome swelling period and dry matter accumulating period were used as experimental materials,to analyze the changes of metabolites and biosynthesis in the three periods by comparative transcriptome and metabolomes analysis.The results indicated that terpenoids accumulation and biosynthesis mainly occurred in leaf growing period,while curcumin accumulation and biosynthesis mainly occurred in dry matter accumulating period. Therefore,we suggested that turmeric rhizomes in leaf growth period were suitable for terpenoids biosynthetic pathway characterization,and rhizome in accumulation of dry matter period was suitable for curcuminoid biosynthesis pathway characterization. This study provides references for medicinal materialproduction and application,as well as biopathway analysis of active compounds for C. longa.


Asunto(s)
Curcuma/química , Curcumina/análisis , Rizoma/química , Terpenos/análisis , Fitoquímicos/análisis , Plantas Medicinales/química
12.
J Magn Reson Imaging ; 48(6): 1602-1609, 2018 12.
Artículo en Inglés | MEDLINE | ID: mdl-29734489

RESUMEN

BACKGROUND: Acute myocardial infarction (AMI) is a major cause of morbidity and mortality worldwide and places a significant financial burden on our society. PURPOSE: To determine the feasibility of cardiac intravoxel incoherent motion (IVIM) in the consecutive evaluation of myocardial perfusion in myocardial infarction patients postpercutaneous coronary intervention (PCI) and to investigate the dynamic biological phenomena in myocardial perfusion after AMI. STUDY TYPE: Prospective observational study. POPULATION: Twenty ST-segment elevation myocardial infarction (STEMI) patients after reperfusion therapy and 12 healthy volunteers served as controls. FIELD STRENGTH/SEQUENCE: Cardiac MRI at 3T, including steady-state free precession (SSFP) cine imaging, T2 -short time inversion recovery (T2 -STIR), late gadolinium enhancement (LGE), T2 mapping, and IVIM diffusion-weighted imaging (DWI) were performed. ASSESSMENT: Myocardial T2 value and IVIM-DWI-associated parameters (ADCfast , ADCslow , and f value) of the infarcted myocardium at different timepoints, remote myocardium, and normal myocardium were analyzed by two experienced radiologists. STATISTICAL TESTS: Independent sample's t-test, Pearson's, and Spearman's correlation and interobserver variability were applied. P ≤ 0.05 was considered significant. RESULTS: The T2 value in ischemic myocardium measured on day 3 (73.58 ± 4.37 msec) was greater than at any other timepoint (24 hours, day 7, day 30; 66.66 ± 4.71 msec, 68.36 ± 4.18 msec, 64.98 ± 5.39 msec, respectively, P < 0.001). ADCfast and f values were significantly lower in ischemic myocardium than in the remote myocardium as well. The f value in ischemic myocardium at day 3 (0.0989 ± 0.02) was lower than at any other timepoint (24 hours, 7 day, 30 day; 0.1203 ± 0.02, 0.1109 ± 0.02, 0.1213 ± 0.02, respectively, P < 0.001. DATA CONCLUSION: This preliminary study demonstrated that a dynamic process exists in the status of myocardial edema and myocardial perfusion in MI patients after PCI. The findings suggest myocardial perfusion would be best evaluated between day 3 and day 7. LEVEL OF EVIDENCE: 2 Technical Efficacy: Stage 2 J. Magn. Reson. Imaging 2018;48:1602-1609.


Asunto(s)
Imagen de Difusión por Resonancia Magnética , Corazón/diagnóstico por imagen , Infarto del Miocardio/diagnóstico por imagen , Imagen de Perfusión Miocárdica , Adulto , Anciano , Medios de Contraste , Edema , Femenino , Gadolinio , Humanos , Imagen por Resonancia Cinemagnética , Masculino , Persona de Mediana Edad , Movimiento (Física) , Isquemia Miocárdica/diagnóstico por imagen , Miocardio/patología , Intervención Coronaria Percutánea , Estudios Prospectivos
13.
J Clin Lab Anal ; 32(2)2018 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-28444906

RESUMEN

BACKGROUND: Carbamoyl Phosphate Synthetase 1 deficiency (CPS1D) is a rare autosomal recessive inborn metabolic disease characterized mainly by hyperammonemia. The fatal nature of CPS1D and its similar symptoms with other urea cycle disorders (UCDs) make its diagnosis difficult, and the molecular diagnosis is hindered due to the large size of the causative gene CPS1. Therefore, the objective of the present study was to investigate the clinical applicability of exome sequencing in molecular diagnosis of CPS1D in Chinese population. METHODS: We described two Chinese neonates presented with unconsciousness and drowsiness due to deepening encephalopathy with hyperammonemia. Whole exome sequencing was performed. Candidate mutations were validated by Sanger sequencing. In-silicon analysis was processed for the pathogenicity predictions of the identified mutations. RESULTS: Two compound heterozygous mutations in the gene carbamoyl phosphate synthetase 1(CPS1) were identified. One is in Case 1 with two novel missense mutations (c.2537C>T, p. Pro846Leu and c.3443T>A, p.Met1148Lys), and the other one is in Case 2 with a novel missense mutation (c.1799G>A, p.Cys600Tyr) and a previously reported 12-bp deletion (c.4088_4099del, p.Leu 1363_Ile1366del). Bioinformatics deleterious predictions indicated pathogenicity of the missense mutations. Conversation analysis and homology modeling showed that the substituted amino acids were highly evolutionary conserved and necessary for enzyme stability or function. CONCLUSION: The present study initially and successfully applied whole exome sequencing to the molecular diagnosis of CPS1D in Chinese neonates, indicating its applicability in cost-effective molecular diagnosis of CPS1D. Three novel pathogenic missense mutations were identified, expanded the mutational spectrum of the CPS1 gene.


Asunto(s)
Carbamoil-Fosfato Sintasa (Amoniaco)/genética , Enfermedad por Deficiencia de Carbamoil-Fosfato Sintasa I/diagnóstico , Enfermedad por Deficiencia de Carbamoil-Fosfato Sintasa I/genética , Secuenciación del Exoma/métodos , Técnicas de Diagnóstico Molecular/métodos , Femenino , Humanos , Recién Nacido , Masculino , Modelos Moleculares , Mutación/genética
14.
Biochem J ; 473(21): 3855-3869, 2016 Nov 01.
Artículo en Inglés | MEDLINE | ID: mdl-27555611

RESUMEN

Forkhead transcription factors play a key role in embryonic patterning during development. In Saccharomyces cerevisiae, two forkhead transcription factors, Fkh1 and Fkh2, regulate the transcription of CLB2 cluster genes important for mitosis. Fkh1 reduces, whereas Fkh2 elevates, the transcription of CLB2 cluster genes. However, the mechanism for this observation remains unclear. Fkh1 and Fkh2 each contain a forkhead domain (DNA-binding domain, DBD) and a forkhead-associated domain (FHAD), whereas Fkh2 possesses an extra C' domain containing six consensus cyclin-dependent kinase phosphorylation sites. In the present study, roles of these domains in protein complexes, the regulation of cell growth and CLB2 cluster genes and protein interactions were investigated using various domain mutants. The result showed that the DBD was vital for ternary complex formation with Mcm1, whereas the FHAD was central for the regulation of cell growth and CLB2 cluster transcription and for interactions with Ndd1 and Clb2. However, the Fkh2 C' domain was dispensable for the above functions. Both DBDs and FHADs had functional divergences in the cell, and Ndd1 functioned via its phosphorylated form. These data provide important insights into the functional mechanism of Fkh1 and Fkh2 in cell cycle control.


Asunto(s)
Proteínas de Ciclo Celular/metabolismo , Factores de Transcripción Forkhead/metabolismo , Proteínas de Saccharomyces cerevisiae/metabolismo , Northern Blotting , Western Blotting , Ciclo Celular/genética , Ciclo Celular/fisiología , Proteínas de Ciclo Celular/genética , Ciclina B/genética , Ciclina B/metabolismo , Factores de Transcripción Forkhead/genética , Inmunoprecipitación , Proteína 1 de Mantenimiento de Minicromosoma/genética , Proteína 1 de Mantenimiento de Minicromosoma/metabolismo , Plásmidos , Proteínas de Saccharomyces cerevisiae/genética , Factores de Transcripción/genética , Factores de Transcripción/metabolismo
15.
BMC Genomics ; 17(1): 735, 2016 09 15.
Artículo en Inglés | MEDLINE | ID: mdl-27633252

RESUMEN

BACKGROUND: Various small RNA (sRNA) sizes and varieties have been identified, but their relationship as well as relationship with their origins and allocations have not been well understood or investigated. RESULTS: By comparing sRNAs generated from two barley cultivars, Golden Promise (GP) and Pallas, we identified that the generation of different sizes and types of sRNAs in barley was locus-, chromosome- and/or cultivar-dependent. 20-nt sRNAs mainly comprising miRNAs and chloroplast-derived sRNAs were significantly over-expressed in Pallas vs. GP on chromosomes 3H and 6H. MiRNAs-enriched 21-nt sRNAs were significantly over-expressed in Pallas vs. GP only on chromosome 4H. On chromosome 5H this size of sRNAs was significantly under-expressed in Pallas, so were 22-nt sRNAs mainly comprising miRNAs and repeat-derived sRNAs. 24-nt sRNAs mostly derived from repeats were evenly distributed in all chromosomes and expressed similarly between GP and Pallas. Unlike other sizes of sRNAs, 24-nt sRNAs were little conserved in other plant species. Abundant sRNAs were mostly generated from 3' terminal regions of chromosome 1H and 5' terminal regions of chromosome 5H. Over-expressed miRNAs in GP vs. Pallas primarily function in stress responses and iron-binding. CONCLUSIONS: Our study indicates that 23-24-nt sRNAs may be linked to repressive chromatin modifications and function in genome stability while 20-21-nt sRNAs may be important for the cultivar specificity. This study provides a novel insight into the mechanism of sRNA expression and function in barley.


Asunto(s)
Cromosomas de las Plantas , Sitios Genéticos , Hordeum/genética , ARN de Planta/genética , ARN Pequeño no Traducido/genética , Evolución Molecular , Regulación de la Expresión Génica de las Plantas , Genoma de Planta , Estudio de Asociación del Genoma Completo , Genómica/métodos , MicroARNs/genética
16.
Plant Biotechnol J ; 13(3): 293-305, 2015 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-25583362

RESUMEN

Drought is a normal and recurring climate feature in most parts of the world and plays a major role in limiting crop productivity. However, plants have their own defence systems to cope with adverse climatic conditions. One of these defence mechanisms is the reprogramming of gene expression by microRNAs (miRNAs). miRNAs are small noncoding RNAs of approximately 22 nucleotides length, which have emerged as important regulators of genes at post-transcriptional levels in a range of organisms. Some miRNAs are functionally conserved across plant species and are regulated by drought stress. These properties suggest that miRNA-based genetic modifications have the potential to enhance drought tolerance in cereal crops. This review summarizes the current understanding of the regulatory mechanisms of plant miRNAs, involvement of plant miRNAs in drought stress responses in barley (Hordeum vulgare L.), wheat (Triticum spp.) and other plant species, and the involvement of miRNAs in plant-adaptive mechanisms under drought stress. Potential strategies and directions for future miRNA research and the utilization of miRNAs in the improvement of cereal crops for drought tolerance are also discussed.


Asunto(s)
Regulación de la Expresión Génica de las Plantas , Hordeum/genética , MicroARNs/genética , Plantas/genética , Triticum/genética , Sequías , ARN de Planta/genética , Estrés Fisiológico
17.
Plant Biotechnol J ; 13(1): 2-13, 2015 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-24975557

RESUMEN

Drought is a major constraint to crop production, and microRNAs (miRNAs) play an important role in plant drought tolerance. Analysis of miRNAs and other classes of small RNAs (sRNAs) in barley grown under water and drought conditions reveals that drought selectively regulates expression of miRNAs and other classes of sRNAs. Low-expressed miRNAs and all repeat-associated siRNAs (rasiRNAs) tended towards down-regulation, while tRNA-derived sRNAs (tsRNAs) had the tendency to be up-regulated, under drought. Antisense sRNAs (putative siRNAs) did not have such a tendency under drought. In drought-tolerant transgenic barley overexpressing DREB transcription factor, most of the low-expressed miRNAs were also down-regulated. In contrast, tsRNAs, rasiRNAs and other classes of sRNAs were not consistently expressed between the drought-treated and transgenic plants. The differential expression of miRNAs and siRNAs was further confirmed by Northern hybridization and quantitative real-time PCR (qRT-PCR). Targets of the drought-regulated miRNAs and siRNAs were predicted, identified by degradome libraries and confirmed by qRT-PCR. Their functions are diverse, but most are involved in transcriptional regulation. Our data provide insight into the expression profiles of miRNAs and other sRNAs, and their relationship under drought, thereby helping understand how miRNAs and sRNAs respond to drought stress in cereal crops.


Asunto(s)
Sequías , Perfilación de la Expresión Génica , Regulación de la Expresión Génica de las Plantas , Hordeum/genética , MicroARNs/genética , Agua/metabolismo , Secuencia de Bases , Cloroplastos/genética , Secuenciación de Nucleótidos de Alto Rendimiento , MicroARNs/metabolismo , Datos de Secuencia Molecular , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo , ARN sin Sentido/genética , ARN sin Sentido/metabolismo , ARN de Planta/genética , ARN de Planta/metabolismo , ARN Interferente Pequeño/genética , ARN Interferente Pequeño/metabolismo , ARN no Traducido/genética , ARN no Traducido/metabolismo , Secuencias Repetitivas de Ácidos Nucleicos/genética , Reproducibilidad de los Resultados
18.
Nat Chem ; 16(6): 893-900, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38641678

RESUMEN

Metal-free catalysts offer a desirable alternative to traditional metal-based electrocatalysts. However, metal-free catalysts, featuring defined active sites, rarely show activities as promising as metal-based materials. Here we report 2-thiolimidazole as an efficient metal-free catalyst for selective electrocatalytic hydrogenation of acetylene into ethylene. Under alkaline conditions, the sulfhydryl and imino groups of 2-thiolimidazole are spontaneously deprotonated into dianions. Deprotonation thus enriches the negative charges of pyridinic N sites in 2-thiolimidazole to enhance the adsorption of electrophilic acetylene through the σ-configuration. Ethylene partial current densities show a volcano relationship with the negative charges of the pyridinic N sites in various imidazole derivatives. Consequently, the deprotonated 2-thiolimidazole exhibits an ethylene partial current density and faradaic efficiency competitive with metal-based catalysts like Cu and Pd. This work highlights the tunability and promising potential of metal-free molecules in electrocatalysis.

19.
BMC Plant Biol ; 13: 214, 2013 Dec 13.
Artículo en Inglés | MEDLINE | ID: mdl-24330740

RESUMEN

BACKGROUND: miR399 and miR827 are both involved in conserved phosphorus (P) deficiency signalling pathways. miR399 targets the PHO2 gene encoding E2 enzyme that negatively regulates phosphate uptake and root-to-shoot allocation, while miR827 targets SPX-domain-containing genes that negatively regulate other P-responsive genes. However, the response of miR399 and miR827 to P conditions in barley has not been investigated. RESULTS: In this study, we investigated the expression profiles of miR399 and miR827 in barley (Hordeum vulagre L.) under P-deficient and P-sufficient conditions. We identified 10 members of the miR399 family and one miR827 gene in barley, all of which were significantly up-regulated under deficient P. In addition, we found many isomirs of the miR399 family and miR827, most of which were also significantly up-regulated under deficient P. Several isomirs of miR399 members were found to be able to cleave their predicted targets in vivo. Surprisingly, a few small RNAs (sRNAs) derived from the single-stranded loops of the hairpin structures of MIR399b and MIR399e-1 were also found to be able to cleave their predicted targets in vivo. Many antisense sRNAs of miR399 and a few for miR827 were also detected, but they did not seem to be regulated by P. Intriguingly, the lowest expressed member, hvu-miR399k, had four-fold more antisense sRNAs than sense sRNAs, and furthermore under P sufficiency, the antisense sRNAs are more frequent than the sense sRNAs. We identified a potential regulatory network among miR399, its target HvPHO2 and target mimics HvIPS1 and HvIPS2 in barley under P-deficient and P-sufficient conditions. CONCLUSIONS: Our data provide an important insight into the mechanistic regulation and function of miR399, miR827 and their isomirs in barley under different P conditions.


Asunto(s)
Regulación de la Expresión Génica de las Plantas , Hordeum/genética , MicroARNs/genética , Fósforo/deficiencia , Fósforo/metabolismo , ARN de Planta/genética , Hordeum/metabolismo
20.
Nat Commun ; 14(1): 1533, 2023 Mar 20.
Artículo en Inglés | MEDLINE | ID: mdl-36941296

RESUMEN

Alkynols semi-hydrogenation is a critical industrial process as the product, alkenols, have extensive applications in chemistry and life sciences. However, this class of reactions is plagued by the use of high-pressure hydrogen, Pd-based catalysts, and low efficiency of the contemporary thermocatalytic process. Here, we report an electrocatalytic approach for selectively hydrogenating alkynols to alkenols under ambient conditions. For representative 2-methyl-3-butene-2-ol, Cu nanoarrays derived electrochemically from CuO, achieve a high partial current density of 750 mA cm-2 and specific selectivity of 97% at -0.88 V vs. reversible hydrogen electrode in alkaline solution. Even in a large two-electrode flow electrolyser, the Cu nanoarrays deliver a single-pass alkynol conversion of 93% with continuous production of 2-methyl-3-butene-2-ol at a rate of ~169 g gCu-1 h-1. Theoretical and in situ electrochemical infrared investigations reveal that the semi-hydrogenation performance is enhanced by exothermic alkynol adsorption and alkenol desorption on the Cu surfaces. Furthermore, this electrocatalytic semi-hydrogenation strategy is shown to be applicable to a variety of alkynol substrates.

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