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1.
BMC Genomics ; 25(1): 296, 2024 Mar 20.
Artigo em Inglês | MEDLINE | ID: mdl-38509464

RESUMO

BACKGROUND: Body weight and size are important economic traits in chickens. While many growth-related quantitative trait loci (QTLs) and candidate genes have been identified, further research is needed to confirm and characterize these findings. In this study, we investigate genetic and genomic markers associated with chicken body weight and size. This study provides new insights into potential markers for genomic selection and breeding strategies to improve meat production in chickens. METHODS: We performed whole-genome resequencing of and Wenshang Barred (WB) chickens (n = 596) and three additional breeds with varying body sizes (Recessive White (RW), WB, and Luxi Mini (LM) chickens; (n = 50)). We then used selective sweeps of mutations coupled with genome-wide association study (GWAS) to identify genomic markers associated with body weight and size. RESULTS: We identified over 9.4 million high-quality single nucleotide polymorphisms (SNPs) among three chicken breeds/lines. Among these breeds, 287 protein-coding genes exhibited positive selection in the RW and WB populations, while 241 protein-coding genes showed positive selection in the LM and WB populations. Genomic heritability estimates were calculated for 26 body weight and size traits, including body weight, chest breadth, chest depth, thoracic horn, body oblique length, keel length, pelvic width, shank length, and shank circumference in the WB breed. The estimates ranged from 0.04 to 0.67. Our analysis also identified a total of 2,522 genome-wide significant SNPs, with 2,474 SNPs clustered around two genomic regions. The first region, located on chromosome 4 (7.41-7.64 Mb), was linked to body weight after ten weeks and body size traits. LCORL, LDB2, and PPARGC1A were identified as candidate genes in this region. The other region, located on chromosome 1 (170.46-171.53 Mb), was associated with body weight from four to eighteen weeks and body size traits. This region contained CAB39L and WDFY2 as candidate genes. Notably, LCORL, LDB2, and PPARGC1A showed highly selective signatures among the three breeds of chicken with varying body sizes. CONCLUSION: Overall this study provides a comprehensive map of genomic variants associated with body weight and size in chickens. We propose two genomic regions, one on chromosome 1 and the other on chromosome 4, that could helpful for developing genome selection breeding strategies to enhance meat yield in chickens.


Assuntos
Galinhas , Estudo de Associação Genômica Ampla , Animais , Galinhas/genética , Locos de Características Quantitativas , Genômica , Peso Corporal/genética , Fenótipo , Polimorfismo de Nucleotídeo Único , China
2.
BMC Genomics ; 24(1): 686, 2023 Nov 16.
Artigo em Inglês | MEDLINE | ID: mdl-37968610

RESUMO

BACKGROUND: Egg laying rate (LR) is associated with a clutch, which is defined as consecutive days of oviposition. The clutch trait can be used as a selection indicator to improve egg production in poultry breeding. However, little is known about the genetic basis of clutch traits. In this study, our aim was to estimate genetic parameters and identify quantitative trait single nucleotide polymorphisms for clutch traits in 399 purebred Laiwu Black chickens (a native Chinese breed) using a genome-wide association study (GWAS). METHODS: In this work, after estimating the genetic parameters of age at first egg, body weight at first egg, LR, longest clutch until 52 week of age, first week when the longest clutch starts, last week when the longest clutch ends, number of clutches, and longest number of days without egg-laying until 52 week of age, we identified single nucleotide polymorphisms (SNPs) and potential candidate genes associated with clutch traits in Laiwu Black chickens. The restricted maximum likelihood method was used to estimate genetic parameters of clutch pattern in 399 Laiwu Black hens, using the GCTA software. RESULTS: The results showed that SNP-based heritability estimates of clutch traits ranged from 0.06 to 0.59. Genotyping data were obtained from whole genome re-sequencing data. After quality control, a total of 10,810,544 SNPs remained to be analyzed. The GWAS revealed that 421 significant SNPs responsible for clutch traits were scattered on chicken chromosomes 1-14, 17-19, 21-25, 28 and Z. Among the annotated genes, NELL2, SMYD9, SPTLC2, SMYD3 and PLCL1 were the most promising candidates for clutch traits in Laiwu Black chickens. CONCLUSION: The findings of this research provide critical insight into the genetic basis of clutch traits. These results contribute to the identification of candidate genes and variants. Genes and SNPs potentially provide new avenues for further research and would help to establish a framework for new methods of genomic prediction, and increase the accuracy of estimated genetic merit for egg production and clutch traits.


Assuntos
Galinhas , Tamanho da Ninhada , Estudo de Associação Genômica Ampla , Animais , Feminino , Galinhas/genética , Genoma , Estudo de Associação Genômica Ampla/veterinária , Fenótipo , Polimorfismo de Nucleotídeo Único
3.
BMC Genomics ; 24(1): 738, 2023 Dec 05.
Artigo em Inglês | MEDLINE | ID: mdl-38049727

RESUMO

BACKGROUND: In this study, we explored the characteristics and causes of freckle formation. We collected 15 normal and freckled eggs each for eggshell index testing and hypothesized that the structure and function of the uterus would have a direct effect on freckled egg production given that eggshells are formed in the uterus. To test this hypothesis, we collected uterine tissue from laying hens (418 days of age) that laid normal (Group C, n = 13) and freckled (Group T, n = 16) eggs for 7 consecutive days. RESULTS: When we examined the eggshell quality, we found that the L value was significantly lower (P < 0.05) in the freckled site group of freckled eggs compared to the normal egg group during the detection of blunt pole, equator, and sharp pole of the eggshell color. The a-values of the three positions were significantly higher (P < 0.05) in the freckled site group of freckled eggs, and the a-values of the blunt pole were significantly lower (P < 0.05) in the background site group of freckled eggs, compared to the normal egg group. The b-values were significantly higher (P < 0.05) at three locations in the freckled site group of freckled eggs compared to the normal egg group. During the detection of eggshell thickness, the blunt pole was significantly higher (P < 0.05) in the freckled egg site group of freckled eggs compared to the normal egg group, and there was no significant difference between the other groups (P > 0.05). There was no significant difference (P > 0.05) between the transverse and longitudinal diameters of the eggs in each group.We then performed histopathology and transcriptome analyses on the collected tissue. When compared with group C, uterine junctional epithelial cells in group T showed significant defects and cilia loss, and epithelial tissue was poorly intact. From transcriptomics, genes that met (|log2FC|) ≥ 1 and P < 0.05 criteria were screened as differentially expressed genes (DEGs). We identified a total of 136 DEGs, with 101 up- and 35 down-regulated genes from our RNA-seq data. DEGs identified by enrichment analyses, which were potentially associated with freckled egg production were: IFI6, CCL19, AvBD10, AvBD11, S100A12, POMC, and UCN3. Gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analyses showed that pathways were associated with immunoreaction and stress stimulation, e.g., complement activation, interleukin-1 cell reactions, viral responses, cell reactions stimulated by corticotropin releasing hormone, steroid hormone mediated signaling pathways, staphylococcal infections, B cell receptor signaling pathways, and natural killer cell mediated cytotoxicity. CONCLUSIONS: From these data, freckled areas deepen freckled eggshell color, but background areas are not affected. At the same time,we reasoned that freckle eggs may result from abnormal immune responses and impaired uterine functions induced by stress. Therefore, the uterus of laying hens in a state of stress and abnormal immune function can cause the appearance of freckled eggs.


Assuntos
Galinhas , Transcriptoma , Animais , Feminino , Galinhas/genética , Perfilação da Expressão Gênica , Ovos/análise , Útero/metabolismo , Casca de Ovo/metabolismo
5.
J Org Chem ; 88(8): 5059-5068, 2023 Apr 21.
Artigo em Inglês | MEDLINE | ID: mdl-36343284

RESUMO

Phosphine-containing porous organic polymers (phosphine-POPs) are a kind of potential catalyst support for alkene hydroformylation. However, the synthesis of phosphine-POPs with strong π-acceptor is still a challenge. Herein, we report the synthesis of phosphine-POPs with different π-acceptor properties [POL-P(Pyr)3, CPOL-BPa&PPh3-15, and CPOL-BP&PPh3-15] and evaluated their performances as ligands to coordinate with Rh(acac)(CO)2 for hydroformylation of alkenes. We found that the Rh center with stronger π-acceptor phosphine-POPs showed better catalytic performance. Rh/CPOL-BPa&PPh3-15 with strong π-acceptor bidentate phosphoramidites showed obviously higher activity and regioselectivity (TON = 7.5 × 103, l/b = 26.1) than Rh/CPOL-BP&PPh3-15 (TON = 5.3 × 103, l/b = 5.0) with weaker π-acceptor bidentate phosphonites. Particularly, the TON of the hydroformylation reached 27.7 × 103 upon using Rh/POL-P(Pyr)3 which possessed tris(1-pyrrolyl)phosphane coordination sites. Overall, our study provides an orientation to design phosphine-POPs for hydroformylation reactions.

6.
Angew Chem Int Ed Engl ; 62(42): e202311335, 2023 Oct 16.
Artigo em Inglês | MEDLINE | ID: mdl-37646093

RESUMO

Ni-based catalysts have been widely studied in the hydrogenation of CO2 to CH4 , but selective and efficient synthesis of higher alcohols (C2+ OH) from CO2 hydrogenation over Ni-based catalyst is still challenging due to successive hydrogenation of C1 intermediates leading to methanation. Herein, we report an unprecedented synthesis of C2+ OH from CO2 hydrogenation over K-modified Ni-Zn bimetal catalyst with promising activity and selectivity. Systematic experiments (including XRD, in situ spectroscopic characterization) and computational studies reveal the in situ generation of an active K-modified Ni-Zn carbide (K-Ni3 Zn1 C0.7 ) by carburization of Zn-incorporated Ni0 , which can significantly enhance CO2 adsorption and the surface coverage of alkyl intermediates, and boost the C-C coupling to C2+ OH rather than conventional CH4 . This work opens a new catalytic avenue toward CO2 hydrogenation to C2+ OH, and also provides an insightful example for the rational design of selective and efficient Ni-based catalysts for CO2 hydrogenation to multiple carbon products.

7.
BMC Genomics ; 23(1): 342, 2022 May 03.
Artigo em Inglês | MEDLINE | ID: mdl-35505302

RESUMO

BACKGROUND: The growth and development of skeletal muscle are regulated by protein-coding genes and non-coding RNA. Circular RNA (circRNA) is a type of non-coding RNA involved in a variety of biological processes, especially in post-transcriptional regulation. To better understand the regulatory mechanism of circRNAs during the development of muscle in chicken, we performed RNA-seq with linear RNA depletion for chicken breast muscle in 12 (E 12) and17 (E 17) day embryos, and 1 (D 1), 14 (D 14), 56 (D 56), and 98 (D 98) days post-hatch. RESULTS: We identified 5755 differentially expressed (DE)-circRNAs during muscle development. We profiled the expression of DE-circRNAs and mRNAs (identified in our previous study) at up to six time points during chicken muscle development and uncovered a significant profile (profile 16) for circRNA upregulation during aging in muscle tissues. To investigate competing endogenous RNA (ceRNA) regulation in muscle and identify muscle-related circRNAs, we constructed a circRNA-miRNA-mRNA regulatory network using the circRNAs and mRNAs from profile 16 and miRNAs identified in our previous study, which included 361 miRNAs, 68 circRNAs, 599 mRNAs, and 31,063 interacting pairs. Functional annotation showed that upregulated circRNAs might contribute to glycolysis/gluconeogenesis, biosynthesis of amino acids, pyruvate metabolism, carbon metabolism, glycogen and sucrose metabolism through the ceRNA network, and thus affected postnatal muscle development by regulating muscle protein deposition. Of them, circRNA225 and circRNA226 from the same host gene might be key circRNAs that could regulate muscle development by interacting with seven common miRNAs and 207 mRNAs. Our experiments also demonstrated that there were interactions among circRNA225, gga-miR-1306-5p, and heat shock protein alpha 8 (HSPA8). CONCLUSIONS: Our results suggest that adequate supply of nutrients such as energy and protein after hatching may be a key factor in ensuring chicken yield, and provide several candidate circRNAs for future studies concerning ceRNA regulation during chicken muscle development.


Assuntos
MicroRNAs , RNA Circular , Animais , Galinhas/genética , Galinhas/metabolismo , MicroRNAs/genética , MicroRNAs/metabolismo , Desenvolvimento Muscular/genética , RNA Mensageiro/genética , RNA Mensageiro/metabolismo
8.
BMC Genomics ; 22(1): 64, 2021 Jan 19.
Artigo em Inglês | MEDLINE | ID: mdl-33468053

RESUMO

BACKGROUND: miRNAs play critical roles in growth and development. Various studies of chicken muscle development have focused on identifying miRNAs that are important for embryo or adult muscle development. However, little is known about the role of miRNAs in the whole muscle development process from embryonic to post-hatching periods. Here, we present a comprehensive investigation of miRNA transcriptomes at 12-day embryo (E12), E17, and day 1 (D1), D14, D56 and D98 post-hatching stages. RESULTS: We identified 337 differentially expressed miRNAs (DE-miRNAs) during muscle development. A Short Time-Series Expression Miner analysis identified two significantly different expression profiles. Profile 4 with downregulated pattern contained 106 DE-miRNAs, while profile 21 with upregulated pattern contained 44 DE-miRNAs. The DE-miRNAs with the upregulated pattern mainly played regulatory roles in cellular turnover, such as pyrimidine metabolism, DNA replication, and cell cycle, whereas DE-miRNAs with the downregulated pattern directly or indirectly contributed to protein turnover metabolism such as glycolysis/gluconeogenesis, pyruvate metabolism and biosynthesis of amino acids. CONCLUSIONS: The main functional miRNAs during chicken muscle development differ between embryonic and post-hatching stages. miRNAs with an upregulated pattern were mainly involved in cellular turnover, while miRNAs with a downregulated pattern mainly played a regulatory role in protein turnover metabolism. These findings enrich information about the regulatory mechanisms involved in muscle development at the miRNA expression level, and provide several candidates for future studies concerning miRNA-target function in regulation of chicken muscle development.


Assuntos
MicroRNAs , Transcriptoma , Animais , Galinhas/genética , Perfilação da Expressão Gênica , MicroRNAs/genética , Desenvolvimento Muscular/genética , Músculos
9.
Chem Rev ; 118(19): 9843-9929, 2018 Oct 10.
Artigo em Inglês | MEDLINE | ID: mdl-29847935

RESUMO

With the continuous development of N-heterocyclic carbene (NHC) chemistry during the past decade, NHC metal complexes have gained wide applications in the research field of organometallic catalysis. The recycling and reuse of NHC metal complexes, which have undergone continuous expansion and diversification, can enhance their catalytic performance, extend their range of application, and afford new routes to green chemistry. Taking NHC metal complex catalysts as the main topic, this review intends to present a comprehensive study of recycling strategies of organometallic catalysts. By an elaborative summarization and classification of recycling strategies, a clear picture of all available of recycling strategies for organometallic catalysts is presented and the advantages and disadvantages of various recycling strategies for specific reactions are discussed in detail. This review is written with the hope of serving as a modest spur to induce other scientists' further contributions in the fields of catalyst recycling and sustainable catalysis.

10.
Angew Chem Int Ed Engl ; 58(13): 4271-4275, 2019 Mar 22.
Artigo em Inglês | MEDLINE | ID: mdl-30730605

RESUMO

Incorporating atomically dispersed metal species into functionalized metal-organic frameworks (MOFs) can integrate their respective merits for catalysis. A cage-controlled encapsulation and reduction strategy is used to fabricate single Ru atoms and triatomic Ru3 clusters anchored on ZIF-8 (Ru1 @ZIF-8, Ru3 @ZIF-8). The highly efficient and selective catalysis for semi-hydrogenation of alkyne is observed. The excellent activity derives from high atom-efficiency of atomically dispersed Ru active sites and hydrogen enrichment by the ZIF-8 shell. Meanwhile, ZIF-8 shell serves as a novel molecular sieve for olefins to achieve absolute regioselectivity of catalyzing terminal alkynes but not internal alkynes. Moreover, the size-dependent performance between Ru3 @ZIF-8 and Ru1 @ZIF-8 is detected in experiment and understood by quantum-chemical calculations, demonstrating a new and promising approach to optimize catalysts by controlling the number of atoms.

11.
Chemistry ; 24(62): 16588-16594, 2018 Nov 07.
Artigo em Inglês | MEDLINE | ID: mdl-30136747

RESUMO

A series of porous organic polymers (POPs) based on N-heterocyclic carbene (NHC) building blocks has been prepared through an octacarbonyldicobalt complex [Co2 (CO)8 ]-catalyzed trimerization of terminal alkyne groups. By changing the monomer ratio in the copolymerization, cross-linked POPs with tunable surface areas of 485-731 m2 g-1 and pore volumes of 0.31-0.51 cm3 g-1 were easily prepared. Compared with the analogues homogeneous NHC (SIPr) catalysts, the POPs exhibited an enhanced catalytic activity and high selectivity in the reductive functionalization of CO2 with amines. The extraordinary performance of the sample could be attributed to the combination of the gas enrichment (or storage) effect, enhanced in-pore concentrations of other substrates, and advantageous micropore structures of the porous polymers. Meanwhile, these catalysts can easily be separated and recycled from the reaction systems with only a slight loss of activity. This excellent catalytic performance and facile recycling of heterogeneous catalysts make them very attractive. These NHC-containing POPs may provide a new platform for catalytic transformations of CO2 .

12.
Water Sci Technol ; 2017(3): 770-781, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30016295

RESUMO

A magnetic cation-exchange resin (MCER) was prepared by copolymerization of oleic acid-grafted magnetite with styrene, divinylbenzene (DVB), and triallylisocyanurate (TAIC) for removing Cd(II) from wastewater. A non-magnetic cation-exchange polystyrene resin (CEPR) was also prepared as a reference. Structural and morphological analyses revealed that the MCER and CEPR were mesoporous microspheres; the MCER contained about 25% Fe3O4. The influence of temperature, pH, contact time, and the initial concentration of Cd(II) on the adsorption of Cd(II) was investigated. The maximum adsorption capacity of the MCER reached 88.56 mg/g, which was achieved at 343 K using a Cd(II) initial concentration of 200 mg/L. The adsorption processes attained equilibrium within 120 min for the MCER and 300 min for the CEPR, and were well described by a pseudo-second-order kinetic model. Furthermore, the equilibrium adsorption data fitted the Freundlich isotherm model better than the Langmuir model. The superior magnetic response and regeneration of the MCER make it a good candidate as an adsorbent for removing Cd(II) from wastewater.


Assuntos
Cádmio/química , Resinas de Troca de Cátion/química , Poliestirenos/química , Águas Residuárias/química , Poluentes Químicos da Água/química , Adsorção , Cátions/análise , Óxido Ferroso-Férrico , Concentração de Íons de Hidrogênio , Cinética , Temperatura , Purificação da Água/métodos
13.
J Org Chem ; 82(9): 4569-4577, 2017 05 05.
Artigo em Inglês | MEDLINE | ID: mdl-28382819

RESUMO

A novel and efficient synthesis of functionalized oxazoles from 2-amidodihydrofurans has been achieved by alkali-induced intramolecular C-O bond cleavage and formation using air as a green oxidant. Moreover, these functionalized oxazoles could be readily transformed into the corresponding oxazole-substituted pyrazoles and 2H-azirines.

14.
Angew Chem Int Ed Engl ; 55(27): 7665-70, 2016 06 27.
Artigo em Inglês | MEDLINE | ID: mdl-27331787

RESUMO

Heterobimetallic molecular complexes or strictly alternating metallated polymers are obtained by a click reaction between mononuclear metal complexes (secondary building units, SBUs) bearing NHCs functionalized with either p-azidophenyl or p-ethynylphenyl wingtips. With a copper-NHC complex as SBU the formation of molecular or polymeric compounds did not require any additives as the copper complex catalyzes the click reaction. Transmetallation from heterobimetallic Cu/Ag derivatives to Cu/Pd derivatives was achieved. The linker between the SBUs (flexible or rigid) influences the catalytic activity of the heterobimetallic compounds. The polymer with alternating copper-NHC and silver-NHC units and a flexible methylene-triazole bridge between them shows the highest activity in the catalytic alkynylation of trifluoromethyl ketones to give fluorinated propargylic alcohols.

15.
Chemistry ; 21(46): 16383-6, 2015 Nov 09.
Artigo em Inglês | MEDLINE | ID: mdl-26428275

RESUMO

A mild and convenient synthesis of carbazoles by TfOTMS (trimethylsilyl trifluoromethanesulfonate)-catalyzed ring-opening annulation of 2-amidodihydrofurans is presented with a high degree of chemoselectivity and regioselectivity. This procedure was also scaled up to a gram-scale synthesis. The reaction could involve an iminonium intermediate through a series of C-O, C-N bond cleavages, C-C bond formations, and a 1,2-migration process.

16.
Chemistry ; 21(23): 8591-6, 2015 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-25940404

RESUMO

A copper-catalyzed C-C bond cleavage reaction of 1,3-dicarbonyl compounds with 2-iodoanilines was developed. In this process, the ortho effect played an important role in the reactivity and a new reaction pathway that involved a (2-aminophenyl)-bis-(1,3-dicarbonyl) copper species was clearly observed by a time-course HRMS analysis of the reaction mixture. Unlike the previous reports, both the nucleophilic and electrophilic parts of the 1,3-dicarbonyl compound were coupled with 2-iodoaniline by C-C bond cleavage to form o-(N-acylamino)aryl ketones, which could be efficiently converted into multisubstituted indoles.

17.
J Org Chem ; 80(12): 6213-21, 2015 Jun 19.
Artigo em Inglês | MEDLINE | ID: mdl-25985116

RESUMO

An efficient nickel catalyst system for the direct ortho C-H alkynylation of the amides has been successfully developed with the directing assistance of 8-aminoquinoline. It was found that the flexible bis(2-dimethylaminoethyl) ether (BDMAE) ligand was critical to achieve the optimized reactivity. This protocol showed good tolerance toward not only a wide range of (hetero)aryl amides but also the rarely studied α,ß-unsaturated alkenyl amide. The directing amide group could be easily transformed to aldehyde or ester in high yields. Meanwhile, the removable TIPS substituent on the resultant aryl/alkenyl alkynes could be further converted to an aryl moiety through a Sila-Sonogashira coupling reaction. This Ni-catalyzed alkynylation procedure provides an alternative approach to construct a C(sp(2))-C(sp) bond.

18.
Angew Chem Int Ed Engl ; 54(5): 1494-8, 2015 Jan 26.
Artigo em Inglês | MEDLINE | ID: mdl-25504819

RESUMO

A ferrocene-based ionic liquid (Fe-IL) is used as a metal-containing feedstock with a nitrogen-enriched ionic liquid (N-IL) as a compatible nitrogen content modulator to prepare a novel type of non-precious-metal-nitrogen-carbon (M-N-C) catalysts, which feature ordered mesoporous structure consisting of uniform iron oxide nanoparticles embedded into N-enriched carbons. The catalyst Fe(10) @NOMC exhibits comparable catalytic activity but superior long-term stability to 20 wt % Pt/C for ORR with four-electron transfer pathway under alkaline conditions. Such outstanding catalytic performance is ascribed to the populated Fe (Fe3 O4 ) and N (N2) active sites with synergetic chemical coupling as well as the ordered mesoporous structure and high surface area endowed by both the versatile precursors and the synthetic strategy, which also open new avenues for the development of M-N-C catalytic materials.

19.
Mol Genet Genomic Med ; 12(1): e2309, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37877458

RESUMO

BACKGROUND: COPA syndrome is a recently described and rare monogenic autosomal dominant disease caused by heterozygous missense mutations in the Coatomer Protein Subunit alpha (COPA) gene that encodes the alpha subunit of coat protein complex I (COPI). Its main clinical manifestations are inflammatory lung disease, arthritis, and renal disease. The development of inflammation in COPA syndrome maybe due to abnormal autophagic response and abnormal activation of type I interferon pathway. To date, 59 cases of COPA have been reported worldwide. METHODS: In this case, Trio-whole exome sequencing was employed in the proband and her parents to identify the underlying genetic cause. COPA variant were detected and the clinical presentation of the patient was described. RESULTS: Herein, we report a case of a 5-year-old girl with COPA syndrome who presented with symptoms of arthritis combined with Anti-neutrophil Cytoplasmic Antibody (ANCA) associated vasculitis (AAV), and progressive renal decline with minimal pulmonary involvement. Trio-whole exome sequencing was performed which revealed a novel heterozygous likely pathogenic variation in the COPA gene (c.679C>T,p.Arg227Cys), which was maternally inherited. Her mother was a heterozygote, but she had no phenotypic manifestations. No other mutations associated with the clinical phenotype were identified. CONCLUSION: The present identification and characterization of a novel mutation expands the genotypic spectra of the COPA syndrome and provide reference data to guide future clinical diagnosis and treatment of COPA syndrome.


Assuntos
Artrite , Nefropatias , Humanos , Feminino , Pré-Escolar , Proteína Coatomer/genética , Síndrome , Mutação de Sentido Incorreto , Nefropatias/genética , Artrite/genética
20.
Poult Sci ; 103(5): 103620, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38492249

RESUMO

Chicken ovarian follicle development is regulated by complex and dynamic gene expression. Nuclear receptor 5A1 and 5A2 (NR5A1 and NR5A2, respectively) are key genes that regulate steroid hormone production and gonadal development in mammals; however, studies on follicular development in the chicken ovary are scarce. In this study, we investigated the functions of NR5A1 and NR5A2 on follicle development in chickens. The results showed that the expression of NR5A1 and NR5A2 was significantly higher in small yellow follicles and F5. Furthermore, the expression of NR5A1 and NR5A2 was significantly higher in follicular tissues of peak-laying hens (30 wk) than in follicular tissues of late-laying hens (60 wk), with high expression abundance in granulosa cells (GC). The overexpression of NR5A1 and NR5A2 significantly promoted proliferation and inhibited apoptosis of cultured GC; upregulated STAR, CYP11A1, and CYP19A1 expression and estradiol (E2) and progesterone (P4) synthesis in GC from preovulatory follicles (po-GC); and increased STAR, CYP11A1, and CYP19A1 promoter activities. In addition, follicle-stimulating hormone treatment significantly upregulated NR5A1 and NR5A2 expression in po-GC and significantly promoted FSHR, CYP11A1, and HSD3B1 expression in GC from pre-hierarchical follicles and po-GC. The core promoter region of NR5A1 was identified at the -1,095- to -483-bp and -2,054- to -1,536-bp regions from the translation start site (+1), and the core promoter region of NR5A2 was at -998 to -489 bp. Two single nucleotide polymorphisms (SNP) were identified in the core promoter region of the NR5A1 gene, which differed between high- and low-yielding chicken groups. Our study suggested that NR5A1 and NR5A2 promoted chicken follicle development by promoting GC proliferation and E2 and P4 hormone synthesis and inhibiting apoptosis. Moreover, we identified the promoter core region or functional site that regulates NR5A1 and NR5A2 expression.


Assuntos
Apoptose , Proteínas Aviárias , Proliferação de Células , Galinhas , Células da Granulosa , Folículo Ovariano , Animais , Feminino , Galinhas/genética , Células da Granulosa/fisiologia , Células da Granulosa/metabolismo , Folículo Ovariano/fisiologia , Folículo Ovariano/metabolismo , Proteínas Aviárias/genética , Proteínas Aviárias/metabolismo , Fator Esteroidogênico 1/genética , Fator Esteroidogênico 1/metabolismo , Hormônios Esteroides Gonadais/metabolismo , Hormônios Esteroides Gonadais/biossíntese
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