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1.
BMC Genomics ; 25(1): 577, 2024 Jun 10.
Artigo em Inglês | MEDLINE | ID: mdl-38858651

RESUMO

BACKGROUND: Several core breeding and supporting lines of the Qingyuan partridge chicken, a representative local chicken breed in China, have been developed over 20 years. Consequently, its economic traits related to growth and reproduction have been significantly improved by breeding selection and commercial utilization, but some characteristic traits, such as partridge feathers, high meat quality and sufficient flavor, have always been retained. However, effective methods for genetic assessment and functional gene exploration of similar trait groups are lacking. The presence of identical haplotype fragments transmitted from parent to offspring results in runs of homozygosity (ROH), which offer an efficient solution. In this study, genomes of 134 Qingyuan partridge chickens representing two breeding populations and one preserved population were re-sequenced to evaluate the genetic diversity and explore functional genes by analyzing the diversity, distribution, and frequency of ROH. RESULTS: The results showed a low level of genomic linkage and degree of inbreeding within both the bred and preserved populations, suggesting abundant genetic diversity and an adequate genetic potential of the Qingyuan partridge chicken. Throughout the long-term selection process, 21 genes, including GLI3, ANO5, BLVRA, EFNB2, SLC5A12, and SVIP, associated with breed-specific characteristics were accumulated within three ROH islands, whereas another 21 genes associated with growth traits including IRX1, IRX2, EGFR, TPK1, NOVA1, BDNF and so on were accumulated within five ROH islands. CONCLUSIONS: These findings provide new insights into the genetic assessment and identification of genes with breed-specific and selective characteristics, offering a solid genetic basis for breeding and protection of Qingyuan partridge chickens.


Assuntos
Cruzamento , Galinhas , Homozigoto , Animais , Galinhas/genética , Polimorfismo de Nucleotídeo Único , Fenótipo , Variação Genética , China , Genômica/métodos
2.
Anim Genet ; 55(3): 480-483, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38605544

RESUMO

Qingyuan partridge chicken is a renowned indigenous yellow broiler breed in China. Egg production traits are important economic traits for chickens. With the decreasing cost of whole genome resequencing, identifying candidate genes with more precision has become possible. In order to identify molecular markers and candidate genes associated with egg production traits, we conducted genome-wide association studies based on the resequencing data of 287 female Qingyuan partridge chickens. For each hen, age at first egg and egg laying rate were recorded and calculated, respectively. With a univariate linear mixed model, we detected one genome-wide significant single nucleotide polymorphism (SNP) and three chromosome-wide significant SNPs associated with egg laying rate. MTA2 is highly likely to be a functional gene for egg laying rate. Our study identifies MTA2 as the first time to be associated with egg laying rate. Findings in our study will advance our understanding of the genetic basis of egg production and have the potential to improve the efficiency of genomic selection in chickens.


Assuntos
Galinhas , Estudo de Associação Genômica Ampla , Polimorfismo de Nucleotídeo Único , Animais , Galinhas/genética , Galinhas/fisiologia , Feminino , Estudo de Associação Genômica Ampla/veterinária , China
3.
Toxicol Ind Health ; 40(1-2): 59-68, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38054809

RESUMO

As a common additive in cigarette filters, nanosilica has been implemented to reduce the release of harmful substances in cigarette smoke. However, the potential risk of occupational exposure for cigarette factory workers is unknown. We collected physical examination data from 710 cigarette factory workers to evaluate the adverse effects of cigarette filter silica exposure. We also established mouse models induced by cigarette filter silica and crystalline silica separately to compare the lung inflammation, pulmonary function, apoptosis, and fibrosis of the two models. Workers in the rolling and packing workshop exposed to cigarette filter silica had a higher rate of abnormal lung function (17.75%) than those in the cutting workshop (0.87%). Animal experiments showed that compared with the same dose of crystalline silica, cigarette filter silica resulted in higher levels of inflammatory factors in the bronchoalveolar lavage fluid (BALF) of mice at day 7, and lower levels of total lung capacity (TLC), inspiratory capacity (IC), vital capacity (VC), and forced vital capacity (FVC) in mice at day 28. Additionally, both exposed groups of mice showed increased levels of caspase 3, collagen I (Col-Ⅰ), α-smooth muscle actin (α-SMA) and hydroxyproline (HYP) in the lungs, as well as collagen accumulation and fibrous nodules at day 28, with no significant difference between the two groups. The results suggested that cigarette filter silica caused more severe early lung inflammation and late ventilation impairment than the same dose of crystalline silica. In the future, we need to pay more attention to nanosilica protection in cigarette factories to prevent pulmonary dysfunction in workers.


Assuntos
Pneumonia , Produtos do Tabaco , Camundongos , Animais , Dióxido de Silício/toxicidade , Pulmão , Líquido da Lavagem Broncoalveolar , Fibrose , Colágeno/farmacologia
4.
Lab Invest ; 103(2): 100024, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-37039148

RESUMO

Atractylenolide III (ATL-III) is a major active constituent of the natural plant Atractylodes rhizome. Our previous study has shown that ATL-III may alleviate alveolar macrophage apoptosis via the inhibition of the mammalian target of rapamycin (mTOR)-mediated autophagy of human silicosis. Therefore, we aimed to further explore the function of ATL-III in autophagy, apoptosis, and pulmonary fibrosis by establishing the ATL-III-intervened silicosis mouse model in this study. Meanwhile, we sought and then verified potential autophagy-related signaling pathways by matching differentially expressed genes (attained by RNA sequencing) and the autophagy database. In this study, RNA-sequencing results implied that the epidermal growth factor receptor, the crucial upstream activator of mTOR, was seen as a potential autophagy-regulatory molecule in the ATL-III-intervened silicosis mouse model. The finding of this study was that ATL-III might improve the disorder of autophagic degradation via the activation of epidermal growth factor receptor-mTOR signals in the pulmonary tissue of the silicosis mouse model. ATL-III also alleviated cell apoptosis and silicotic fibrosis. Overall, we supposed that ATL-III might be a potential protective medicine, which had a regulatory effect on autophagy, for the intervention of silicotic fibrosis. In the future, the therapeutic drugs for silicosis should be further focused on the development and application of such natural autophagy agents.


Assuntos
Silicose , Sirolimo , Serina-Treonina Quinases TOR , Animais , Humanos , Camundongos , Autofagia , Receptores ErbB , Fibrose , Silicose/tratamento farmacológico , Silicose/metabolismo , Sirolimo/metabolismo , Serina-Treonina Quinases TOR/metabolismo
5.
Chemphyschem ; 24(16): e202300141, 2023 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-37309720

RESUMO

Additional phase modulation (APM) is proposed to generally enhance the theoretical efficiency of homonuclear double-quantum (DQ) recoupling in solid-state NMR. APM applies an additional phase list to DQ recoupling in steps of an entire block. The sine-based phase list can enhance the theoretical efficiency by 15-30 %, from 0.52 to 0.68 (non-γ-encoded recoupling) or from 0.73 to 0.84 (γ-encoded recoupling), with doubled recoupling time. The genetic-algorithm (GA) optimized APM can adiabatically enhance the efficiency to ∼1.0 at longer times. The concept of APM has been tested on SPR-51 , BaBa, and SPR-31 , which represent γ-encoded recoupling, non-γ-encoded recoupling, and another kind beyond the former two, respectively. Simulations reveal that enhancements from APM are due to the activation of more crystallites in the powder. Experiments on 2,3-13 C labeled alanine are used to validate the APM recoupling. This new concept shall shed light on developing more efficient homonuclear recoupling methods.

6.
J Anim Breed Genet ; 140(2): 158-166, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36164750

RESUMO

Qingyuan partridge chicken is one of the most well-known Chinese indigenous yellow broilers. In breeding programmes, five traits are usually selected when the chickens are 105 days old, namely body weight (BW), comb height (CH), shank length (SL), shank girth (SG) and feather maturity (FM). The objective of this study was to estimate the genetic parameters of these five traits, especially direct additive genetic correlations, to lay the foundation for balanced selection of Qingyuan partridge chickens. Approximately 9600 records were used for estimation. Variance components for these five traits were estimated using three multi-trait models incorporating different effects via Gibbs sampling. Based on model 1 in which the random effects included direct additive genetic effects and residuals, the estimated direct heritabilities for BW, CH, SL, SG and FM were 0.29 ± 0.04, 0.53 ± 0.04, 0.47 ± 0.04, 0.43 ± 0.05 and 0.18 ± 0.03, respectively. The direct genetic correlations ranged from -0.08 to 0.46. When additionally considering maternal additive genetic effects (model 2), the estimates of direct heritabilities and absolute values of direct additive genetic correlations were smaller. The heritabilities were 0.14 ± 0.04, 0.40 ± 0.02, 0.34 ± 0.05, 0.27 ± 0.05 and 0.12 ± 0.03 for BW, CH, SL, SG and FM, respectively. The direct additive genetic correlations ranged from -0.33 to 0.36. More specifically, the direct additive genetic correlations between BW and CH, SL, SG and FM were 0.19 ± 0.13, 0.15 ± 0.15, 0.36 ± 0.15 and - 0.33 ± 0.21, respectively. The genetic correlations of FM with SL, SG and CH were - 0.15 ± 0.15, -0.08 ± 0.17 and 0.18 ± 0.15, respectively. The direct genetic correlations between CH and SG and SL were - 0.02 ± 0.11 and - 0.20 ± 0.11, respectively, and that between SL and SG was 0.19 ± 0.11. The total heritabilities and maternal additive genetic correlations ranged from 0.16 to 0.44 and from -0.13 to 0.61, respectively. The third model also included the maternal permanent environmental effect for BW. The estimates of direct heritability, direct additive genetic correlation, total heritability and maternal additive genetic correlation were only slightly different from those based on the second model. Therefore, the maternal additive genetic effect has a large effect on the estimation of genetic parameters, and it is better to consider this effect in the genetic evaluation of these five traits. Relatively high direct and maternal additive genetic correlations for most trait pairs suggested that it is better to jointly evaluate these five traits in breeding programmes.


Assuntos
Galinhas , Plumas , Animais , Feminino , Galinhas/genética , Peso Corporal/genética , Fenótipo , China
7.
Int J Mol Sci ; 24(9)2023 May 05.
Artigo em Inglês | MEDLINE | ID: mdl-37176040

RESUMO

Silicosis, characterized by irreversible pulmonary fibrosis, remains a major global public health problem. Nowadays, cumulative studies are focusing on elucidating the pathogenesis of silicosis in order to identify preventive or therapeutic antifibrotic agents. However, the existing research on the mechanism of silica-dust-induced pulmonary fibrosis is only the tip of the iceberg and lags far behind clinical needs. Idiopathic pulmonary fibrosis (IPF), as a pulmonary fibrosis disease, also has the same problem. In this study, we examined the relationship between silicosis and IPF from the perspective of their pathogenesis and fibrotic characteristics, further discussing current drug research and limitations of clinical application in silicosis. Overall, this review provided novel insights for clinical treatment of silicosis with the hope of bridging the gap between research and practice in silicosis.


Assuntos
Fibrose Pulmonar Idiopática , Pneumopatias , Silicose , Humanos , Silicose/tratamento farmacológico , Silicose/patologia , Fibrose Pulmonar Idiopática/tratamento farmacológico , Fibrose Pulmonar Idiopática/etiologia , Fibrose Pulmonar Idiopática/patologia , Fibrose , Dióxido de Silício/uso terapêutico
8.
BMC Genomics ; 22(1): 232, 2021 Apr 03.
Artigo em Inglês | MEDLINE | ID: mdl-33812382

RESUMO

BACKGROUND: A body distribution with high intramuscular fat and low abdominal fat is the ideal goal for broiler breeding. Preadipocytes with different origins have differences in terms of metabolism and gene expression. The transcriptome analysis performed in this study of intramuscular preadipocytes (DIMFPs) and adipose tissue-derived preadipocytes (DAFPs) aimed to explore the characteristics of lipid deposition in different chicken preadipocytes by dedifferentiation in vitro. RESULTS: Compared with DAFPs, the total lipid content in DIMFPs was reduced (P < 0.05). Moreover, 72 DEGs related to lipid metabolism were screened, which were involved in adipocyte differentiation, fatty acid transport and fatty acid synthesis, lipid stabilization, and lipolysis. Among the 72 DEGs, 19 DEGs were enriched in the PPAR signaling pathway, indicating its main contribution to the regulation of the difference in lipid deposition between DAFPs and DIMFPs. Among these 19 genes, the representative APOA1, ADIPOQ, FABP3, FABP4, FABP7, HMGCS2, LPL and RXRG genes were downregulated, but the ACSL1, FABP5, PCK2, PDPK1, PPARG, SCD, SCD5, and SLC27A6 genes were upregulated (P < 0.05 or P < 0.01) in the DIMFPs. In addition, the well-known pathways affecting lipid metabolism (MAPK, TGF-beta and calcium) and the pathways related to cell communication were enriched, which may also contribute to the regulation of lipid deposition. Finally, the regulatory network for the difference in lipid deposition between chicken DAFPs and DIMFPs was proposed based on the above information. CONCLUSIONS: Our data suggested a difference in lipid deposition between DIMFPs and DAFPs of chickens in vitro and proposed a molecular regulatory network for the difference in lipid deposition between chicken DAFPs and DIMFPs. The lipid content was significantly increased in DAFPs by the direct mediation of PPAR signaling pathways. These findings provide new insights into the regulation of tissue-specific fat deposition and the optimization of body fat distribution in broilers.


Assuntos
Galinhas , Perfilação da Expressão Gênica , Gordura Abdominal/metabolismo , Animais , Galinhas/genética , Metabolismo dos Lipídeos/genética , Lipídeos
9.
J Fluoresc ; 31(5): 1513-1523, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34297322

RESUMO

A novel fluorimetric and colorimetric chemosensor (1O) was synthesized with diarylethene-rhodamine unit and characterized by ESI-MS, 1H NMR, and 13C NMR. The chemosensor can selectively recognize extremely low concentrations of Hg2+ over a variety of metal ions with remarkable colorimetric and fluorescent responses. The colorimetric and fluorescent changes were ascribed the reaction between 1O and Hg2+ destructed the rhodamine hydrazide into open-ring form which was proved by mass spectrometry and nuclear magnetic titration analyses. The detection limits of the UV absorption and fluorescence methods for Hg2+ were found to be 0.708 µM and 24.6 nM, respectively. Moreover, the chemosensor exhibited excellent photochromism and outstanding fatigue resistance property under alternating UV and visible light irradiation. The application potential of the chemosensor was demonstrated with the qualitative detection of Hg2+ in real water samples.

10.
Genet Sel Evol ; 53(1): 66, 2021 Aug 16.
Artigo em Inglês | MEDLINE | ID: mdl-34399688

RESUMO

BACKGROUND: In broiler production, breast muscle weight and intramuscular fat (IMF) content are important economic traits. Understanding the genetic mechanisms that underlie these traits is essential to implement effective genetic improvement programs. To date, genome-wide association studies (GWAS) and gene expression analyses have been performed to identify candidate genes for these traits. However, GWAS mainly detect associations at the DNA level, while differential expression analyses usually have low power because they are typically based on small sample sizes. To detect candidate genes for breast muscle weight and IMF contents (intramuscular fat percentage and relative content of triglycerides, cholesterol, and phospholipids), we performed association analyses based on breast muscle transcriptomic data on approximately 400 Tiannong partridge chickens at slaughter age. RESULTS: First, by performing an extensive simulation study, we evaluated the statistical properties of association analyses of gene expression levels and traits based on the linear mixed model (LMM) and three regularized linear regression models, i.e., least absolute shrinkage and selection operator (LASSO), ridge regression (RR), and elastic net (EN). The results show that LMM, LASSO and EN with tuning parameters that are determined based on the one standard error rule exhibited the lowest type I error rates. Using results from all three models, we detected 43 candidate genes with expression levels that were associated with breast muscle weight. In addition, candidate genes were detected for intramuscular fat percentage (1), triglyceride content (2), cholesterol content (1), and phospholipid content (1). Many of the identified genes have been demonstrated to play roles in the development and metabolism of skeletal muscle or adipocyte. Moreover, weighted gene co-expression network analyses revealed that many candidate genes were harbored by gene co-expression modules, which were also significantly correlated with the traits of interest. The results of Gene Ontology and Kyoto Encyclopedia of Genes and Genomes enrichment analyses indicated that these modules are involved in muscle development and contraction, and in lipid metabolism. CONCLUSIONS: Our study provides valuable insight into the transcriptomic bases of breast muscle weight and IMF contents in Chinese indigenous yellow broilers. Our findings could be useful for the genetic improvement of these traits in broiler chickens.


Assuntos
Tecido Adiposo/metabolismo , Galinhas/anatomia & histologia , Galinhas/genética , Estudos de Associação Genética , Músculo Esquelético/metabolismo , Transcriptoma , Animais , Feminino , Perfilação da Expressão Gênica
11.
J Anim Breed Genet ; 138(4): 454-462, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33113588

RESUMO

Qingyuan partridge chicken is an important indigenous chicken in China. In its breeding schemes, chickens are usually selected at the age of 105-day-old for five traits, including body weight (BW), shank length (SL), shank girth (SG), comb height (CH) and feather maturity (FM). At present, genetic parameters of the aforementioned traits have still not been studied in Qingyuan partridge chickens. The objectives of this study were the following: (1) to investigate whether the optimal statistical models of these traits need to consider maternal genetic and permanent environmental effects in late-feathering Qingyuan partridge hens, and (2) to estimate genetic parameters for these traits based on the optimal models. The numbers of records for BW, SL, SG, CH and FM were 13,721, 13,671, 13,670, 13,669 and 13,672, respectively. Variance components were estimated using average information-restricted maximum likelihood method, and the optimal model was determined based on Bayesian information criterion. More specifically, the optimal model for BW considered maternal genetic and permanent environmental effects in addition to direct additive genetic effect; SL, SG and FM considered direct and maternal genetic effects; and CH considered direct and maternal genetic effects, and the covariance between them. The direct heritabilities of these traits estimated using the optimal models were 0.21 ± 0.04, 0.30 ± 0.05, 0.40 ± 0.05, 0.59 ± 0.09 and 0.09 ± 0.04, respectively; the maternal heritabilities were 0.01 ± 0.04, 0.05 ± 0.05, 0.04 ± 0.05, 0.09 ± 0.09 and 0.03 ± 0.04, respectively. Maternal genetic effect evidently played an important part in FM and maternal heritability accounted for 30 per cent of total heritability. Furthermore, the direct and maternal genetic effects for CH were estimated to be negatively and moderately correlated (-0.51 ± 0.11). For all traits, neglecting existent maternal effects biased the estimation of direct heritability. Therefore, to implement optimum breeding strategies for improvement of these traits in Qingyuan partridge hens, maternal effects should be taken into consideration.


Assuntos
Galinhas , Herança Materna , Animais , Teorema de Bayes , Peso Corporal , China , Plumas , Feminino , Modelos Genéticos
12.
Bioinformatics ; 35(23): 4879-4885, 2019 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-31070732

RESUMO

MOTIVATION: Current dynamic phenotyping system introduces time as an extra dimension to genome-wide association studies (GWAS), which helps to explore the mechanism of dynamical genetic control for complex longitudinal traits. However, existing methods for longitudinal GWAS either ignore the covariance among observations of different time points or encounter computational efficiency issues. RESULTS: We herein developed efficient genome-wide multivariate association algorithms for longitudinal data. In contrast to existing univariate linear mixed model analyses, the proposed method has improved statistic power for association detection and computational speed. In addition, the new method can analyze unbalanced longitudinal data with thousands of individuals and more than ten thousand records within a few hours. The corresponding time for balanced longitudinal data is just a few minutes. AVAILABILITY AND IMPLEMENTATION: A software package to implement the efficient algorithm named GMA (https://github.com/chaoning/GMA) is available freely for interested users in relevant fields. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.


Assuntos
Algoritmos , Estudo de Associação Genômica Ampla , Genoma , Humanos , Análise Multivariada , Software
13.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(2): 159-161, 2020 Feb 10.
Artigo em Zh | MEDLINE | ID: mdl-32034745

RESUMO

OBJECTIVE: To analyze INS gene variant in a patient with maturity-onset diabetes of the young type 10. METHODS: High-throughput sequencing was used to screen for the variants. Suspected variant was verified by Sanger sequencing. RESULTS: Genetic testing indicated that the patient and his mother have both carried a heterozygous c.130G>A (p.Gly44Arg) variant in exon 1 of the INS gene. Prediction of protein structure suggested the variant to be pathogenic. CONCLUSION: The c.130G>A (p.Gly44Arg) variant of the INS gene probably underlies the disease in this patient.


Assuntos
Diabetes Mellitus Tipo 2 , Insulina/genética , Adolescente , Feminino , Testes Genéticos , Heterozigoto , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Mutação
14.
Bioinformatics ; 34(11): 1817-1825, 2018 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-29342229

RESUMO

Motivation: Epistasis provides a feasible way for probing potential genetic mechanism of complex traits. However, time-consuming computation challenges successful detection of interaction in practice, especially when linear mixed model (LMM) is used to control type I error in the presence of population structure and cryptic relatedness. Results: A rapid epistatic mixed-model association analysis (REMMA) method was developed to overcome computational limitation. This method first estimates individuals' epistatic effects by an extended genomic best linear unbiased prediction (EG-BLUP) model with additive and epistatic kinship matrix, then pairwise interaction effects are obtained by linear retransformations of individuals' epistatic effects. Simulation studies showed that REMMA could control type I error and increase statistical power in detecting epistatic QTNs in comparison with existing LMM-based FaST-LMM. We applied REMMA to two real datasets, a mouse dataset and the Wellcome Trust Case Control Consortium (WTCCC) data. Application to the mouse data further confirmed the performance of REMMA in controlling type I error. For the WTCCC data, we found most epistatic QTNs for type 1 diabetes (T1D) located in a major histocompatibility complex (MHC) region, from which a large interacting network with 12 hub genes (interacting with ten or more genes) was established. Availability and implementation: Our REMMA method can be freely accessed at https://github.com/chaoning/REMMA. Contact: liujf@cau.edu.cn. Supplementary information: Supplementary data are available at Bioinformatics online.


Assuntos
Algoritmos , Epistasia Genética , Estudo de Associação Genômica Ampla/métodos , Modelos Genéticos , Polimorfismo de Nucleotídeo Único , Animais , Genômica/métodos , Humanos , Camundongos
15.
Biochem Biophys Res Commun ; 487(3): 672-677, 2017 06 03.
Artigo em Inglês | MEDLINE | ID: mdl-28442347

RESUMO

Mitochondria Ca2+ overload has long been recognized as a cell death trigger. Unexpectedly, we demonstrated a signaling complex composed of Calmodulin (CaM), Arabidopsis thaliana Bcl-2-associated athanogene 5 (AtBAG5) and Heat-shock cognate 70 protein (Hsc70) within Arabidopsis thaliana mitochondria which transduces mitochondria Ca2+ elevations to suppress leaf senescence. Gain- and loss-of-function AtBAG5 mutant plants revealed that, mitochondria Ca2+ elevation significantly increase chlorophyll retention and decrease H2O2 level in dark-induced leaf senescence assay. Based on our findings, we proposed a molecular mechanism in which chronic mitochondria Ca2+ elevation reduced ROS levels and thus inhibits leaf senescence.


Assuntos
Envelhecimento/fisiologia , Proteínas de Arabidopsis/metabolismo , Arabidopsis/fisiologia , Cálcio/metabolismo , Mitocôndrias/metabolismo , Folhas de Planta/fisiologia , Calmodulina/metabolismo , Proteínas de Choque Térmico HSC70/metabolismo , Proteínas Mitocondriais/metabolismo , Regulação para Cima/fisiologia
16.
Genomics ; 106(5): 286-94, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26296457

RESUMO

To enrich the map of genomic variations in swine, we randomly sequenced 13 domestic and wild individuals from China and Europe. We detected approximately 28.1 million single nucleotide variants (SNVs) and 3.6 million short insertions and deletions (INDELs), of which 2,530,248 SNVs and 3,456,626 INDELs were firstly identified compared with dbSNP 143. Moreover, 208,687 SNVs and 24,161 INDELs were uniquely observed in Chinese pigs, potentially accounting for phenotypic differences between Chinese and European pigs. Furthermore, significantly high correlation between SNV and INDEL was witnessed, which indicated that these two distinct variants may share similar etiologies. We also predicted loss of function genes and found that they were under weaker evolutionary constraints. This study gives interesting insights into the genomic features of the Chinese pig breeds. These data would be useful in the establishment of high-density SNP map and would lay a foundation for facilitating pig functional genomics study.


Assuntos
Análise Mutacional de DNA , Variação Genética , Genoma , Suínos/genética , Animais , Cruzamento , Feminino , Genômica , Masculino
17.
BMC Genomics ; 15: 593, 2014 Jul 14.
Artigo em Inglês | MEDLINE | ID: mdl-25023178

RESUMO

BACKGROUND: Copy number variations (CNVs) confer significant effects on genetic innovation and phenotypic variation. Previous CNV studies in swine seldom focused on in-depth characterization of global CNVs. RESULTS: Using whole-genome assembly comparison (WGAC) and whole-genome shotgun sequence detection (WSSD) approaches by next generation sequencing (NGS), we probed formation signatures of both segmental duplications (SDs) and individualized CNVs in an integrated fashion, building the finest resolution CNV and SD maps of pigs so far. We obtained copy number estimates of all protein-coding genes with copy number variation carried by individuals, and further confirmed two genes with high copy numbers in Meishan pigs through an enlarged population. We determined genome-wide CNV hotspots, which were significantly enriched in SD regions, suggesting evolution of CNV hotspots may be affected by ancestral SDs. Through systematically enrichment analyses based on simulations and bioinformatics analyses, we revealed CNV-related genes undergo a different selective constraint from those CNV-unrelated regions, and CNVs may be associated with or affect pig health and production performance under recent selection. CONCLUSIONS: Our studies lay out one way for characterization of CNVs in the pig genome, provide insight into the pig genome variation and prompt CNV mechanisms studies when using pigs as biomedical models for human diseases.


Assuntos
Variações do Número de Cópias de DNA , Sus scrofa/genética , Animais , Hibridização Genômica Comparativa , Dosagem de Genes , Genoma , Sequenciamento de Nucleotídeos em Larga Escala , Análise de Sequência de DNA
18.
J Magn Reson ; 365: 107730, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38981307

RESUMO

Solid-state nuclear magnetic resonance (NMR) is a potent tool for studying the structures and dynamics of insoluble proteins. It starts with signal assignment through multi-dimensional correlation experiments, where the aliphatic 13Cα-13Cß correlation is indispensable for identifying specific residues. However, developing efficient methods for achieving this correlation is a challenge in solid-state NMR. We present a simple band-selective zero-quantum (ZQ) recoupling method, named POST-C4161 (PC4), which enhances 13Cα-13Cß correlations under moderate magic-angle spinning (MAS) conditions. PC4 requires minimal 13C radio-frequency (RF) field and proton decoupling, exhibits high stability against RF variations, and achieves superior efficiency. Comparative tests on various samples, including the formyl-Met-Leu-Phe (fMLF) tripeptide, microcrystalline ß1 immunoglobulin binding domain of protein G (GB1), and membrane protein of mechanosensitive channel of large conductance from Methanosarcina acetivorans (MaMscL), demonstrate that PC4 selectively enhances 13Cα-13Cß correlations by up to 50 % while suppressing unwanted correlations, as compared to the popular dipolar-assisted rotational resonance (DARR). It has addressed the long-standing need for selective 13C-13C correlation methods. We anticipate that this simple but efficient PC4 method will have immediate applications in structural biology by solid-state NMR.


Assuntos
Isótopos de Carbono , Ressonância Magnética Nuclear Biomolecular , Proteínas , Ressonância Magnética Nuclear Biomolecular/métodos , Proteínas/química , Methanosarcina/química , Algoritmos
19.
Animals (Basel) ; 14(14)2024 Jul 22.
Artigo em Inglês | MEDLINE | ID: mdl-39061594

RESUMO

The liver of chickens is essential for maintaining physiological activities and homeostasis. This study aims to investigate the specific function and molecular regulatory mechanism of microRNA-122 (miR-122), which is highly expressed in chicken liver. A lentivirus-mediated overexpression vector of miR-122 was constructed and used to infect 12-day-old female Qingyuan Partridge chickens. Transcriptome sequencing analysis was performed to identify differentially expressed genes in the liver. Overexpression of miR-122 resulted in 776 differentially expressed genes (DEGs). Enrichment analyses, including Gene Ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG), and Gene Set Enrichment Analysis (GSEA) revealed associations with lipid metabolism, cellular senescence, cell adhesion molecules, and the MAPK signaling pathway. Eight potential target genes of miR-122 (ARHGAP32, CTSD, LBH, PLEKHB2, SEC14L1, SLC2A1, SLC6A14, and SP8) were identified through miRNA target prediction platforms and literature integration. This study provides novel insights into the molecular regulatory mechanisms of miR-122 in chicken liver, highlighting its role in key biological processes and signaling pathways. These discoveries enhance our understanding of miR-122's impact on chicken liver function and offer valuable information for improving chicken production performance and health.

20.
J Anim Sci Biotechnol ; 15(1): 70, 2024 May 11.
Artigo em Inglês | MEDLINE | ID: mdl-38730308

RESUMO

BACKGROUND: Carcass traits are crucial indicators of meat production efficiency. However, the molecular regulatory mechanisms associated with these traits remain unclear. RESULTS: In this study, we conducted comprehensive transcriptomic and genomic analyses on 399 Tiannong partridge chickens to identify key genes and variants associated with carcass traits and to elucidate the underlying regulatory mechanisms. Based on association analyses with the elastic net (EN) model, we identified 12 candidate genes (AMY1A, AP3B2, CEBPG, EEF2, EIF4EBP1, FGFR1, FOXD3, GOLM1, LOC107052698, PABPC1, SERPINB6 and TBC1D16) for 4 carcass-related traits, namely live weight, dressed weight, eviscerated weight, and breast muscle weight. SERPINB6 was identified as the only overlapping gene by 3 analyses, EN model analysis, weighted gene co-expression network analysis and differential expression analysis. Cell-level experiments confirmed that SERPINB6 promotes the proliferation of chicken DF1 cells and primary myoblasts. Further expression genome-wide association study and association analysis indicated that rs317934171 is the critical site that enhances SERPINB6 expression. Furthermore, a dual-luciferase reporter assay proved that gga-miR-1615 targets the 3'UTR of SERPINB6. CONCLUSIONS: Collectively, our findings reveal that SERPINB6 serves as a novel gene for chicken carcass traits by promoting fibroblast and myoblast proliferation. Additionally, the downstream variant rs317934171 regulates SERPINB6 expression. These results identify a new target gene and molecular marker for the molecular mechanisms of chicken carcass traits.

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