Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 109
Filtrar
Más filtros

País/Región como asunto
Tipo del documento
País de afiliación
Intervalo de año de publicación
1.
J Surg Res ; 296: 18-28, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38215673

RESUMEN

INTRODUCTION: Ventricular septal defect (VSD) is the most common congenital heart malformation in children. This study aimed to investigate potential pathogenic genes associated with Tibetan familial VSD. METHODS: Whole genomic DNA was extracted from eight Tibetan children with VSD and their healthy parents (a total of 16 individuals). Whole-exome sequencing was performed using the Illumina HiSeq platform. After filtration, detection, and annotation, single nucleotide variations and insertion-deletion markers were examined. Comparative evaluations using the Sorting Intolerant from Tolerant, PolyPhen V2, Mutation Taster, and Combined Annotation Dependent Depletion databases were conducted to predict harmful mutant genes associated with the etiology of Tibetan familial VSD. RESULTS: A total of six missense mutations in genetic disease-causing genes associated with the development of Tibetan familial VSD were identified: activin A receptor type II-like 1 (c.652 C > T: p.R218 W), ATPase cation transporting 13A2 (c.1363 C > T: p.R455 W), endoplasmic reticulum aminopeptidase 1 (c.481 G > A: p.G161 R), MRI1 (c.629 G > A: p.R210Q), tumor necrosis factor receptor-associated protein 1 (c.224 G > A: p.R75H), and FBN2 (c.2260 G > A: p.G754S). The Human Gene Mutation Database confirmed activin A receptor type II-like 1, MRI1, and tumor necrosis factor receptor-associated protein 1 as pathogenic mutations, while FBN2 was classified as a probable pathogenic mutation. CONCLUSIONS: This novel study directly screens genetic variations associated with Tibetan familial VSD using whole-exome sequencing, providing new insights into the pathogenesis of VSD.


Asunto(s)
Cardiopatías Congénitas , Defectos del Tabique Interventricular , Niño , Humanos , Secuenciación del Exoma , Tibet , Defectos del Tabique Interventricular/genética , Defectos del Tabique Interventricular/metabolismo , Receptores del Factor de Necrosis Tumoral/genética
2.
J Org Chem ; 89(14): 10093-10098, 2024 Jul 19.
Artículo en Inglés | MEDLINE | ID: mdl-38935753

RESUMEN

A series of amides, including α-bromo hydroxamates, N-alkoxyamides, and N-aryloxyamides, were subjected to phosphine-catalyzed ring-opening O-selective addition with cyclopropenones, producing various special α,ß-unsaturated esters containing oxime ether motif, in moderate to excellent yields, with high regioselectivity, and exclusive O-selectivity. The methodology is highly atom-economical, with simple operation procedures, and compatible with a wide substrate scope (more than 44 examples).

3.
Plant Cell Rep ; 43(5): 114, 2024 Apr 08.
Artículo en Inglés | MEDLINE | ID: mdl-38587681

RESUMEN

KEY MESSAGE: SmZHDs was highly expressed in anthocyanin-rich parts of eggplant. SmZHD12 can activate the expression of SmCHS, SmANS, SmDFR and SmF3H. Overexpression of SmZHD12 promotes anthocyanin biosynthesis in Arabidopsis. The Zinc finger-homeodomain (ZHD) proteins family genes are known to play a significant role in plant development and physiological processes. However, the evolutionary history and function of the ZHD gene family in eggplant remain largely unexplored. This study categorizes a total of 15 SmZHD genes into SmMIF and SmZHD subfamilies based on conserved domains. The phylogeny, gene structure, conserved motifs, promoter elements, and chromosomal locations of the SmZHD genes were comprehensively analyzed. Tissue expression profiles indicate that the majority of SmZHD genes are expressed in anthocyanin-rich areas. qRT-PCR assays revealed distinct expression patterns of SmZHD genes in response to various treatments, indicating their potential involvement in multiple signaling pathways. Analysis of transcriptomic data from light-treated eggplant peel identified SmZHD12 as the most light-responsive gene among the 15 SmZHD genes. Consequently, this study provides further evidence that SmZHD12 facilitates anthocyanin accumulation in Arabidopsis leaves by upregulating the expression of anthocyanin biosynthesis structural genes, as confirmed by dual-luciferase assays and Arabidopsis genetic transformation. Our study will lay a solid foundation for the in-depth study of the involvement of SmZHD genes in the regulation of anthocyanin biosynthesis.


Asunto(s)
Arabidopsis , Solanum melongena , Solanum melongena/genética , Antocianinas , Arabidopsis/genética , Evolución Biológica , Perfilación de la Expresión Génica
4.
Biochem Genet ; 2024 Apr 20.
Artículo en Inglés | MEDLINE | ID: mdl-38642176

RESUMEN

In this cohort of 217 bladder cancer patients and 484 healthy controls, we explored the association between CYP24A1 variants (rs2762934, rs1570669, rs6068816, rs2296241) and bladder cancer risk in the Chinese Han population. Utilizing the Agena MassARRAY system, we genotyped four selected CYP24A1 polymorphisms. Logistic regression revealed a significant association of rs2762934 and rs1570669 with elevated bladder cancer risk, while rs6068816 exhibited a protective effect. Bioinformatics analysis of CYP24A1 expression in normal and cancerous bladder tissues indicated higher expression in normal tissue. In conclusion, our findings highlight the potential role of CYP24A1 variants in bladder cancer susceptibility.

5.
J Org Chem ; 88(21): 15282-15287, 2023 Nov 03.
Artículo en Inglés | MEDLINE | ID: mdl-37824681

RESUMEN

We report herein a general and effective system achieving cyclization of ß-trifluoromethyl enones with amidines in the presence of 1,3-diiodo-5,5-dimethylhydantoin (DIH), which affords a range of trifluoromethylated 2-imidazolines in synthetically useful yields with good diastereoselectivities (up to 95% yield, up to 98:2 dr) and good functional group tolerance. Furthermore, the one-pot synthesis of trifluoromethylated imidazoles via sequential cyclization and oxidation is demonstrated. More significantly, the reaction mechanism was verified by ESI-MS studies of possible intermediates, and a reasonable reaction mechanism was proposed.

6.
Water Sci Technol ; 88(11): 3009-3023, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-38096085

RESUMEN

To solve the problem of liquid-liquid extraction of La(III), the oil-in-water Pickering emulsions were prepared by utilizing the aqueous solution of sodium alginate as the continuous phase, kerosene-diluted extractant di-(2-ethylhexyl) phosphate (P204) as the dispersed phase, and modified silica as an emulsifier. Then the emulsions were added to a calcium chloride solution to prepare the Pickering emulsion hydrogels (PEHGs) to better remove La(III). The PEHGs were characterized using Fourier transform infrared, thermogravimetric analysis, and scanning electron microscopy. The adsorption properties of PEHGs for La(III) in the aqueous solution were investigated using a UV-vis spectrophotometer. The study found that P204 was successfully coated by hydrogels and reached the highest adsorption capacity of 48 mg/g at pH 4. The amount of adsorption increased with the rise in temperature from 298 to 318 K. La(III) adsorption experimental data were more consistent with the pseudo-second-order kinetic model and the Langmuir isotherm model. Thermodynamic parameters showed that the adsorption of La(III) by PEHGs was a spontaneous endothermic process. The internal diffusion model revealed a linear relationship, indicating that internal diffusion played a role in the adsorption process. The encapsulating property of PEHGs indicated its potential usefulness in industrial wastewater for treating La(III).


Asunto(s)
Lantano , Contaminantes Químicos del Agua , Lantano/química , Emulsiones , Agua , Iones , Fosfatos/química , Termodinámica , Adsorción , Cinética , Contaminantes Químicos del Agua/análisis , Concentración de Iones de Hidrógeno , Espectroscopía Infrarroja por Transformada de Fourier
7.
Water Sci Technol ; 87(2): 454-468, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-36706293

RESUMEN

Traditional liquid-solid extraction methods for the removal of zinc ions (Zn(II)) were generally limited by the leakage of extractant and low extraction capacity. The two-component Pickering emulsion hydrogels (PEHGs) in which the synergistic 2-ethylhexyl hydrogen-2-ethylhexylphosphate/tributyl phosphate (EHEHPA/TBP) was encapsulated in a semi-penetrating polymer network (SIPN) structured hydrogels polyacrylamide/sodium alginate (PAM/SA) were prepared by the Pickering emulsions polymerization route. The PEHGs were characterized by FTIR, SEM, TGA, and tensile mechanical measurements, and their self-healing properties were explored. The adsorption performance of PEHGs on Zn(II) was investigated. The results showed that the encapsulation of the extractant reached 95% due to the hydrogels network and nano-silica (nano-SiO2) particle network in PEHGs-15. The critical crashing pressure of PEHGs-15 was 0.084 MPa, and the adsorption after 3 h of healing was only 86% of the original amount. The maximum adsorption capacity of PEHGs-15 on Zn(II) was 76.51 mg/g at pH 5. The functional groups of SA and EHEHPA/TBP enhanced the adsorption capacity of PEHGs-15 by chelating with Zn(II). After five adsorption-desorption cycles, the adsorption capacity of PEHGs-15 exceeded 85% of the initial one. The excellent mechanical properties, self-healing, and regenerative properties of PEHGs-15 offer the potential to remove Zn(II) from the solution.


Asunto(s)
Hidrogeles , Zinc , Hidrogeles/química , Emulsiones , Polímeros , Iones , Adsorción , Concentración de Iones de Hidrógeno
8.
Theor Appl Genet ; 135(7): 2187-2196, 2022 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-35668203

RESUMEN

KEY MESSAGE: A candidate non photosensitive gene S m F TS H10 was identified by combining bulked segregant analysis and map­based cloning. Low light condition often leads to poor coloration of photosensitive eggplant. Here, we obtained a non-photosensitive eggplant that can synthesize large amount of anthocyanin under shading conditions. Genetic analysis of F1 and F2 populations revealed that the phenotype of non-photosensitivity was regulated by a single dominant nuclear gene, herein temporarily designated SmFTSH10. Through Bulked segregant analysis (BSA), SNP haplotyping and fine genetic mapping delimited SmFTSH10 to a 290 kb region of eggplant chromosome 10 flanking by markers dCAPS21 and dCAPS32. Sequence analysis revealed C-base deletion in the fourth exon of SmFTSH10 resulted in premature termination of translation. The expression level of SmFTSH10 decreased significantly in anthocyanin-rich parts of mutant '145' compared with the wild-type 'LSHX'. Sequencing of 10 recombinants revealed that the C-base deletion in the 4th exon of SmFTSH10 was co-segregated with the non-photosensitive phenotype, and the sequencing analysis of the natural population of eggplant also showed that the Indel in SmFTSH10 had a high accuracy in the identification of the photosensitivity of eggplant. Light-responsive expression patterns analysis suggests that it has the same expression trend as the genes involved in eggplant anthocyanin biosynthesis, which supports SmFTSH10 as the most possible candidate gene of non-photosensitivity. These findings provide a new insight into understanding the molecular mechanisms of anthocyanin biosynthesis in non-photosensitive eggplant.


Asunto(s)
Solanum melongena , Antocianinas , Mapeo Cromosómico , Genes Dominantes , Mutación INDEL , Solanum melongena/genética , Solanum melongena/metabolismo
9.
Macromol Rapid Commun ; 43(9): e2200031, 2022 May.
Artículo en Inglés | MEDLINE | ID: mdl-35307894

RESUMEN

Here, a multifunctional film (MFF) as an alternative tissue adhesive in the form of an interpenetrating network consisting of self-crosslinked aldehyde-functionalized chitosan (AC) and crosslinked poly(acrylic acid) (PAA) further coordinated with Ag+ is reported. The MFF combines enhanced toughness and stretchability, which is attributed to the synergistic effects of the double-network design. Covalent crosslinking maintains the overall integrity of the MFF matrix, while noncovalent crosslinking dissipates energy under deformation. Upon contact, the MFF quickly dries the tissue surface followed by instant physical crosslinking to the tissue. Subsequent covalent crosslinking between the aldehyde groups of the MFF and the primary amine groups on the surface of the tissue further stabilizes the adhesion. Meanwhile, Ag+ provides strong antibacterial properties to the MFF. Notably, in vivo studies demonstrate that the MFF allows facile and tough attachment to the wet and dynamic surface of rabbit liver and presents superior hemostasis and sealing properties. Furthermore, the MFF can be safely degraded without causing abnormal defects in vivo. The outstanding physicochemical properties of the MFF can potentially be a good alternative to existing sutures or staples and has potential for use in clinical practice.


Asunto(s)
Quitosano , Adhesivos Tisulares , Adhesivos , Aldehídos , Animales , Quitosano/química , Hemostasis , Hidrogeles/química , Conejos , Adhesivos Tisulares/química , Adhesivos Tisulares/farmacología
10.
Plant Cell Physiol ; 62(6): 1001-1011, 2021 Oct 11.
Artículo en Inglés | MEDLINE | ID: mdl-34043001

RESUMEN

Eggplant is rich in anthocyanins, which are thought to be highly beneficial for human health. It has been reported that blue light inhibitors of cryptochromes (BICs) act as negative regulators in light signal transduction, but little is known about their role in anthocyanin biosynthesis. In this study, yeast one-hybrid analysis showed that SmBICs could bind to the promoter of SmCHS, indicating that they could directly participate in eggplant anthocyanin biosynthesis. In SmBICs-silenced eggplants, more anthocyanins were accumulated, while SmBIC1-overexpression (OE) and SmBIC2-OE Arabidopsis and eggplants synthesized less anthocyanin. Quantitative real-time polymerase chain reaction also revealed that the anthocyanin structural genes, which were downregulated in SmBIC1-OE and SmBIC2-OE lines, were upregulated in SmBICs-silenced eggplants. In addition, transcriptome analysis further confirmed that differentially expressed genes of SmBICs-OE plants were enriched mainly in the pathways related to anthocyanin biosynthesis and the key transcription factors and structural genes for anthocyanin biosynthesis, such as SmMYB1, SmTT8, SmHY5, SmCHS, SmCHI, SmDFR and SmANS, were suppressed significantly. Finally, bimolecular fluorescence complementation and blue-light-dependent degradation assay suggested that SmBICs interacted with photo-excited SmCRY2 to inhibit its photoreaction, thereby inhibiting the expression of genes related to anthocyanin biosynthesis and reducing anthocyanin accumulation. Collectively, our study suggests that SmBICs repress anthocyanin biosynthesis by inhibiting photoactivation of SmCRY2. This study provides a new working model for anthocyanin biosynthesis in eggplant.


Asunto(s)
Antocianinas/biosíntesis , Proteínas de Plantas/metabolismo , Solanum melongena/metabolismo , Arabidopsis/genética , Arabidopsis/metabolismo , Criptocromos/genética , Criptocromos/metabolismo , Regulación de la Expresión Génica de las Plantas , Luz , Fototransducción , Proteínas de Plantas/genética , Plantas Modificadas Genéticamente , Solanum melongena/fisiología , Activación Transcripcional
11.
Clin Exp Pharmacol Physiol ; 48(5): 668-678, 2021 05.
Artículo en Inglés | MEDLINE | ID: mdl-32311112

RESUMEN

Personalized medicine, the treatment best suited for an individual, is a hot field of clinical research in the world. Many recent studies have shown that genetic variations have a great influence on the treatment. This study aimed to identify the distribution differences of very important pharmacogene (VIP) variants between the Tibetan population and the other 26 populations from the 1000 Genomes project. Based on the PharmGKB database, we successfully genotyped 50 VIP variants located in 27 genes in the Tibetan population. We also compared the genotype frequencies of VIP variants between Tibetan population and the other 26 populations. Without adjustment, the Chi-square test showed that the only significant variant between Tibetans and every other group was rs1801159 in dihydropyrimidine dehydrogenase (DPYD), followed by rs1800566 in NAD(P)H quinone dehydrogenase 1 (NQO1) and rs1051296 in solute carrier family 19 member 1 (SLC19A1). After Bonferroni's multiple adjustments, the genotype frequencies distribution of DPYD rs1801159 was found to be different in Tibetans compared to the other 26 groups, apart from ACB and ASW. Moreover, genetic structure/F-statistics (Fst) analysis and the phylogenetic tree illustrated that Tibetans had a closer affinity with CDX, CHB, CHS, JPT and KHV. Our data will complement pharmacogenomics information of the Tibetan population and provide theoretical support for the realization of individualized medical treatment for Tibetans in the future.


Asunto(s)
Frecuencia de los Genes , Filogenia , Pueblo Asiatico , Genotipo , Humanos , Tibet
12.
Biophys J ; 119(6): 1078-1090, 2020 09 15.
Artículo en Inglés | MEDLINE | ID: mdl-32857960

RESUMEN

Interactions between amyloid-ß peptide (Aß) and the cell membrane include interaction with membrane lipids and binding to membrane receptors, both of which are considered to be the toxicity mechanisms of Aß. However, it is unclear whether both mechanisms lead to cytotoxicity. Thus, we aimed to analyze these two mechanisms of Aß42 interaction with cell membranes under different Aß aggregation states. To this end, model membrane experiments were conducted. Quantitative analysis of Aß42 monomers or oligomers bound to the membrane of neuro-2a cells was also performed, and laser confocal microscopy was employed to assess endocytosis of FITC-Aß42 monomers or oligomers by neuro-2a cells. We found that the binding capacity of Aß42 to membrane lipids was weak and that the amount of Aß42 bound to membrane lipids was low. Moreover, clathrin-mediated endocytosis of Aß42 oligomers by neuro-2a cells was observed. Endocytosis serves as a key mode of interaction between extracellular Aß42 and neurons. These findings provide insights into the mechanisms underlying Aß oligomer metabolism.


Asunto(s)
Péptidos beta-Amiloides , Neuronas , Membrana Celular , Endocitosis , Fragmentos de Péptidos
13.
Plant Cell Physiol ; 61(2): 416-426, 2020 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-31725150

RESUMEN

Eggplant is rich in anthocyanins. R2R3-MYB transcription factors play a key role in the anthocyanin pathway. Low temperature is vital abiotic stress that affects the anthocyanin biosynthesis in plants. CBFs (C-repeat binding factors) act as central regulators in cold response. In this study, we found that SmCBF1, SmCBF2 and SmCBF3, via their C-terminal, physically interacted with SmMYB113, a key regulator of anthocyanin biosynthesis in eggplant. SmCBF2 and SmCBF3 upregulated the expression of SmCHS and SmDFR via a SmMYB113-dependent pathway. In addition, the transient expression assays demonstrated that co-infiltrating SmCBFs and SmMYB113 significantly improved the contents of anthocyanin and the expression levels of anthocyanin structural genes in tobacco. When SmTT8, a bHLH partner of SmMYB113, coexpressed with SmCBFs and SmMYB113, the anthocyanin contents were significantly enhanced compared with SmCBFs and SmMYB113. Furthermore, overexpression of SmCBF2 and SmCBF3 could facilitate the anthocyanin accumulation under cold conditions in Arabidopsis. Taken together, these results shed light on the functions of SmCBFs and potential mechanisms of low-temperature-induced anthocyanin biosynthesis in eggplant.


Asunto(s)
Antocianinas/biosíntesis , Antocianinas/genética , Solanum melongena/genética , Solanum melongena/metabolismo , Factores de Transcripción/genética , Factores de Transcripción/metabolismo , Arabidopsis/genética , Arabidopsis/metabolismo , Proteínas de Arabidopsis , Factores de Transcripción con Motivo Hélice-Asa-Hélice Básico/metabolismo , Regulación de la Expresión Génica de las Plantas , Hojas de la Planta/metabolismo , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo , Plantas Modificadas Genéticamente/genética , Estrés Fisiológico , Nicotiana/genética , Transactivadores/metabolismo , Activación Transcripcional , Transcriptoma
14.
J Cardiovasc Pharmacol ; 75(4): 344-350, 2020 04.
Artículo en Inglés | MEDLINE | ID: mdl-31895872

RESUMEN

OBJECTIVE: This study aimed to explore the association between genetic variations of CYP19A1 and stroke susceptibility in the Chinese Han population. METHODS: A total of 477 stroke patients and 480 healthy controls were recruited in this study. The genotyping of CYP19A1 polymorphisms (rs4646, rs6493487, rs1062033, rs17601876, and rs3751599) was performed by the Agena MassARRAY platform. Under logistic regression models, we evaluated the associations of CYP19A1 polymorphisms and stroke susceptibility by odds ratio and 95% confidence interval. RESULTS: Our study showed that rs4646 (codominant: P = 0.020; recessive: P = 0.016) and rs17601876 (allele: P = 0.044; codominant: P = 0.011; dominant: P = 0.009; recessive: P = 0.046) significantly decreased the risk of stroke. In the stratification analysis, rs4646 is associated with decreased stroke risk among the individuals older than 64 years (codominant: P = 0.028; recessive: P = 0.010) and women (codominant: P = 0.029; recessive: P = 0.029), whereas rs1062033 increased stroke risk in the subgroup of age 64 years and younger (recessive: P = 0.042). The rs17601876 polymorphism has a strong relationship with stroke susceptibility, which is age and gender dependent. In haplotype analysis, we found a block (rs17601876 and rs3751599), and Ars17601876Grs3751599 haplotype is related to an increased stroke risk (P < 0.05). In addition, CYP19A1 variations had effects on clinical characteristics. CONCLUSION: CYP19A1 polymorphisms were significantly associated with stroke susceptibility in the Chinese Han population.


Asunto(s)
Aromatasa/genética , Polimorfismo de Nucleótido Simple , Accidente Cerebrovascular/genética , Anciano , Pueblo Asiatico , Estudios de Casos y Controles , China/epidemiología , Femenino , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Haplotipos , Humanos , Masculino , Persona de Mediana Edad , Fenotipo , Medición de Riesgo , Factores de Riesgo , Accidente Cerebrovascular/diagnóstico , Accidente Cerebrovascular/enzimología , Accidente Cerebrovascular/etnología
15.
BMC Genomics ; 20(1): 678, 2019 Aug 28.
Artículo en Inglés | MEDLINE | ID: mdl-31455222

RESUMEN

BACKGROUND: Light is a key environmental factor in regulation of anthocyanin biosynthesis. Through a large number of bagging screenings, we obtained non-photosensitive eggplants that still have decent amount of anthocyanin synthesized after bagging. In the present study, transcriptome was made to explore the molecular mechanism of dark-regulated anthocyanin synthesis in non-photosensitive eggplant. RESULTS: The transcriptome of the pericarp at 0 h, 0.5 h, 4 h, and 8 h after bag removal were sequenced and analyzed. Comparison of the sequencing data with those of photosensitive eggplant for the same time period showed that anthocyanin synthesis genes had different expression trends. Based on the expression trends of the structural genes, it was discovered that 22 transcription factors and 4 light signal transduction elements may be involved in the anthocyanin synthesis in two types of eggplants. Through transcription factor target gene prediction and yeast one-hybrid assay, SmBIM1, SmAP2, SmHD, SmMYB94, SmMYB19, SmTT8, SmYABBY, SmTTG2, and SmMYC2 were identified to be directly or indirectly bound to the promoter of the structural gene SmCHS. These results indicate that the identified 9 genes participated in the anthocyanin synthesis in eggplant peel and formed a network of interactions among themselves. CONCLUSIONS: Based on the comparative transcription, the identified 22 transcription factors and 4 light signal transduction elements may act as the key factors in dark regulated anthocyanin synthesis in non-photosensitive eggplant. The results provided a step stone for further analysis of the molecular mechanism of dark-regulated anthocyanin synthesis in non-photosensitive eggplant.


Asunto(s)
Antocianinas/biosíntesis , Fototransducción , Solanum melongena/genética , Regulación de la Expresión Génica de las Plantas , RNA-Seq , Transducción de Señal , Solanum melongena/metabolismo , Factores de Transcripción/metabolismo , Transcriptoma
16.
J Gene Med ; 21(10): e3123, 2019 10.
Artículo en Inglés | MEDLINE | ID: mdl-31433532

RESUMEN

BACKGROUND: Kashin-Beck disease (KBD) is a local, multiple and deformable osteoarthropathy, mostly occurring in Tibet. Type 2 iodothyronine deiodinase (DIO2) is implicated in the activation of thyroid hormones to which the bones are very sensitive. Therefore, it is necessary to explore the association between KBD and DIO2 in the Tibetan population. METHODS: We carried out a case-control study among 316 cases and 320 controls from a Tibetan population. Seven single nucleotide polymorphisms in DIO2 were selected and genotyped using the Agena MassARRAY platform (Agena Bioscience, San Diego, CA, USA). Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated by logistic regression analysis. HaploReg (https://pubs.broadinstitute.org/mammals/haploreg/haploreg.php) and GTEx (http://www.gtexportal.org) databases were applied for functional assessment of the polymorphisms. RESULTS: The "A/C" genotype of rs1352815 (OR = 3.18, 95% CI = 1.14-8.85, p = 0.027) and the "A/G" genotype of rs1388382 (OR = 3.80, 95% CI = 1.30-11.11, p = 0.015) were associated with the susceptibility of KBD under the co-dominant model. With gender stratification analysis, rs1388382 showed obvious evidence for correlation with an elevated risk of KBD in females under the co-dominant model (OR = 3.32, 95% CI = 1.06-10.41, p = 0.039). CONCLUSIONS: The results obtained in the present study indicate that DIO2 polymorphisms rs1352815 and rs1388382 were correlated with KBD susceptibility among Tibetans, which also sheds new light on the role of DIO2 in the development of KBD.


Asunto(s)
Pueblo Asiatico/genética , Predisposición Genética a la Enfermedad , Yoduro Peroxidasa/genética , Enfermedad de Kashin-Beck/epidemiología , Enfermedad de Kashin-Beck/genética , Polimorfismo de Nucleótido Simple , Alelos , Estudios de Casos y Controles , Biología Computacional/métodos , Femenino , Frecuencia de los Genes , Estudios de Asociación Genética , Ligamiento Genético , Genotipo , Humanos , Desequilibrio de Ligamiento , Masculino , Vigilancia de la Población , Tibet/epidemiología , Yodotironina Deyodinasa Tipo II
18.
BMC Genomics ; 19(1): 201, 2018 03 20.
Artículo en Inglés | MEDLINE | ID: mdl-29554865

RESUMEN

BACKGROUND: The anthocyanins are highly enriched in eggplants (Solanum melongena L.) with purple peel. However, our previous study showed that anthocyanins biosynthesis in eggplant cultivar 'Lanshan Hexian' was completely regulated by light and color becomes evident at most 2 days after exposure to light. In the present investigation, transcriptome study was made to explore the underlying molecular mechanisms of light-induced anthocyanin biosynthesis in eggplant (Solanum melongena L.) before color becomes evident. RESULTS: RNA-Seq was performed for four time points (0, 0.5, 4 and 8 h after bags removal) where concerted changes happened. A total of 32,630 genes or transcripts were obtained by transcriptome sequencing, from which 1956 differentially expressed genes (DEGs) were found. Gene Ontology analysis showed that the 1956 DEGs covered a wide range of cellular components, molecular functions and biological processes. All the DEGs were further divided into 26 clusters based on their distinct expression patterns. Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis found out 24 structural anthocyanin biosynthesis genes which distributing in seven clusters. In addition, 102 transcription factors, which exhibited highly dynamic changes in response to light, were found in the seven clusters. Three photoreceptors, UV Resistance Locus 8 (UVR8), Cryptochrome 3 (CRY3) and UVR3, were identified as DEGs. The light signal transduction elements, COP1 and two SPAs, might be responsible for anthocyanin biosynthesis regulation. CONCLUSION: Based on the transcriptome data, the anthocyanin biosynthesis structural genes, transcription factors, photoreceptors and light signal transduction elements were quickly screened which may act as the key regulatory factors in anthocyanin biosynthesis pathway. By comparing the transcriptome data with our previous studies, 869 genes were confirmed to participate in the light-induced anthocyanin biosynthesis. These results expand our knowledge of light-induced anthocyanin biosynthesis in plants, which allowing for fruit coloration to be improved under low-light conditions in future.


Asunto(s)
Antocianinas/metabolismo , Perfilación de la Expresión Génica/métodos , Regulación del Desarrollo de la Expresión Génica , Proteínas de Plantas/genética , Solanum melongena/genética , Frutas/genética , Frutas/metabolismo , Frutas/efectos de la radiación , Regulación de la Expresión Génica de las Plantas , Luz , Pigmentación , Solanum melongena/metabolismo , Solanum melongena/efectos de la radiación , Transcriptoma/efectos de la radiación
19.
BMC Genomics ; 19(1): 324, 2018 05 04.
Artículo en Inglés | MEDLINE | ID: mdl-29728058

RESUMEN

After publication of the original article [1] it was noted that in Additional file 1: Table S1, and Fig. 1, specific primer sequences were incorrect, and taken from Sme2.5_02154.1_g00001.1 rather than Sme2.5_13923.1_g00001.1.

20.
Plant Cell Environ ; 40(12): 3069-3087, 2017 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-28940206

RESUMEN

Light is a key environmental factor affecting anthocyanin biosynthesis. Our previous study demonstrated that "Lanshan Hexian" is a light-sensitive eggplant cultivar, but its regulatory mechanism is unknown. Here, delphinidin-3-[4-(cis-p-coumaroyl)-rhamnosyl-glucopyranoside]-5-glucopyranoside and delphinidin-3-[4-(trans-p-coumaroyl)-rhamnosyl-glucopyranoside]-5-glucopyranoside were identified as the main anthocyanin components in Lanshan Hexian by ultra-performance liquid chromatography-tandem mass spectrometry. Three time points of anthocyanin accumulation, including the start point (0 day), fastest point (5 days), and highest point (12 day), were investigated by using ribonucleic acid sequencing and iTRAQ technology. The corresponding correlation coefficients of differentially expressed genes, and differentially expressed proteins were 0.6936, 0.2332, and 0.6672. Anthocyanin biosynthesis was a significantly enriched pathway, and CHI, F3H, 3GT, 5GT, and HY5 were regulated at both transcriptional and translational levels. Moreover, some transcription factors and photoreceptors may participate in light-induced anthocyanin biosynthesis like the known transcription factors MYB113 and TT8. The transient expression assay indicated that SmMYB35, SmMYB44, and a SmMYB86 isoform might involve in the light-induced anthocyanin biosynthesis pathway. Finally, a regulatory model for light-induced anthocyanin biosynthesis in eggplant was constructed. Our work provides a new direction for the study of the molecular mechanisms of light-induced anthocyanin biosynthesis in eggplant.


Asunto(s)
Antocianinas/metabolismo , Perfilación de la Expresión Génica , Proteómica , Solanum melongena/genética , Análisis por Conglomerados , Modelos Biológicos , Filogenia , Solanum melongena/metabolismo , Solanum melongena/efectos de la radiación
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA