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1.
Cytogenet Genome Res ; 2020 Jun 10.
Artigo em Inglês | MEDLINE | ID: mdl-32516773

RESUMO

Saccharum spontaneum is a wild germplasm resource of the genus Saccharum that has many valuable traits. Ty1-copia retrotransposons constitute a large proportion of plant genomes and affect genome sequence organization and evolution. This study aims to analyze the sequence heterogeneity, phylogenetic diversity, copy number, and chromosomal dispersion patterns of Ty1-copia retrotransposons in S. spontaneum. A total of 44 Ty1-copia reverse transcriptase subclones isolated from S. spontaneum showed a range of heterogeneity, and all sequences were A-T rich, averaging approximately 54.59%. Phylogenetic analysis divided the 44 reverse transcriptase sequences into 5 distinct lineages (Retrofit/Ale, Sire/Maximus, Bianca, Tork/TAR, and Ty1-copia like). Dot-blot hybridization revealed that Ty1-copia retrotransposons consisted of a significant component of approximately 38,900 copies and 16,300 copies per genome in the accessions YN82-114 (2n = 10x = 80) and AP85-441 (2n = 4x = 32), respectively. The results of a local blast analysis showed that there are 15,069 Ty1-copia retrotransposon copies in the genome of AP85-441, of which the Retrofit/Ale lineage had the highest copy number, followed by the Tork/TAR, Sire/Maximus, and Bianca lineages. Furthermore, both FISH and the local blast analysis with AP85-441 genomic data demonstrated that the Ty1-copia retrotransposons were unevenly distributed throughout the chromosomes. Taken together, this study provides insights into the role of Ty1-copia retrotransposons in the evolution and organization of the S. spontaneum genome.

2.
Cell Death Differ ; 2020 Jun 03.
Artigo em Inglês | MEDLINE | ID: mdl-32494025

RESUMO

Estrogen receptor α (ERα) is the crucial factor in ERα-positive breast cancer progression. Endocrine therapies targeting ERα signaling is one of the widely used therapeutic strategies for breast cancer. However, a large number of the patients become refractory to therapy. Abnormal expression of ERα co-regulator facilitates breast cancer development and tendency of endocrine resistance. Thus, it is necessary to discover the novel co-regulators modulating ERα action. Here, we demonstrate that histone deubiquitinase USP22 is highly expressed in breast cancer samples compared with that in the benign tissue, and high expression of USP22 was significantly associated with poorer overall survival in BCa samples. Moreover, USP22 associates with ERα to be involved in maintenance of ERα stability. USP22 enhances ERα-induced transactivation. We further provide the evidence that USP22 is recruited together with ERα to cis-regulatory elements of ERα target gene. USP22 promotes cell growth even under hypoxia condition and with the treatment of ERα antagonist in breast cancer cells. Importantly, the deubiquitination activity of USP22 is required for its functions on maintenance of ERα stability, thereby enhancing ERα action and conferring endocrine resistance in breast cancer.

3.
Opt Express ; 28(9): 13155-13176, 2020 Apr 27.
Artigo em Inglês | MEDLINE | ID: mdl-32403796

RESUMO

Using large amounts of bio-optical data collected in the South China Sea (SCS) from 2003 to 2016, this study checks the consistency between well-known semi-analytical algorithms (SAAs)-the quasi-analytical algorithm (QAA) and the default generalized inherent optical property (GIOP-DC)-in retrieving the non-water absorption coefficient (anw(λ)), phytoplankton absorption coefficient (aph(λ)) and particulate backscattering coefficient (bbp(λ)) from remote-sensing reflectance (Rrs(λ)) data at 412, 443, 490, 531, and 555 nm. The samples from the SCS are further separated into oligotrophic and mesotrophic water types for the comparison of the SAAs. Several findings are made: First, the values of anw(λ) derived from the two SAAs deliver similar performance, with R2 values ranging from 0.74 to 0.85 and 0.74 to 0.87, implying absolute percent error differences (APDs) from 37.93% to 74.88% and from 32.32% to 71.75% for the QAA and GIOP-DC, respectively. The QAA shows a value of R2 between 0.64 and 0.91 and APDs between 43.57% to 83.53%, while the GIOP-DC yields R2 between 0.76 to 0.89 and APDs between 44.65% to 79.46% when estimating aph(λ). The values of bbp(λ) derived from the QAA are closer to the in-situ bbp(λ) values, as indicated by the low values of the normalized centered root-mean-square deviation and normalized standard deviation, which are close to one. Second, a regionally tuned estimation of aph(λ) is proposed and recommended for the SCS. This consistency check of inherent optical properties products from SAAs can serve as reference for algorithm selection for further applications, including primary production, carbon, and biogeochemical models of the SCS, and can provide guidance for improving aph(λ) estimation.

4.
J Mater Chem B ; 8(20): 4469-4474, 2020 May 27.
Artigo em Inglês | MEDLINE | ID: mdl-32363372

RESUMO

Convenient strategies to transform regular liposomes or nano-micelles into multifunctional theranostics would be highly valuable in cancer therapy. Herein, we developed an amphiphilic fluorinated porphyrin dendrimer as a multifunctional "add-on" module which would self-assemble onto liposomal drug delivery systems and conveniently transform the liposomes into novel theranostics. Through cancer cells and murine xenograft tumor model assays, the theranostics showed valuable fluorescence/19F magnetic resonance dual modal imaging and highly efficient chemo-photodynamic therapy. The modular strategy facilitates the convenient and standardized preparation of multifunctional theranostics.

5.
J Colloid Interface Sci ; 572: 281-296, 2020 Mar 28.
Artigo em Inglês | MEDLINE | ID: mdl-32251907

RESUMO

Three-dimensionally macroporous (3DM) MnZrOx catalysts were fabricated to reveal the structure and Zr-doping effects on both physicochemical properties and propane combustion behaviors. The increasing addition of zirconium is favorable for the formation of 3DM structure and amorphous Mn-Zr solid solution, leading to tunable physicochemical properties. The significant activity improvement after zirconium addition was originally attributable to the superior redox ability, higher oxygen mobility and more abundant oxygen vacancy. The excellent catalytic activity, cycling stability and water resistant ability over 3DM Mn0.6Zr0.4Ox make it a promising material for hydrocarbons elimination. The comparative TPSR, in situ DRIFTs and kinetics study over 3DM and bulk catalysts emphasize the advantageous function of 3DM architecture on promoting propane adsorption, oxidation and lattice oxygen mobility.

6.
Cancer Sci ; 111(6): 2062-2077, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32279431

RESUMO

Absent, small or homeotic 2-like protein (ASH2L) is a core component of a multimeric histone methyltransferase complex that is involved in the maintenance of active transcription, participating in several cancers, however the biological function and molecular mechanism of ASH2L in endometrial cancer (ECa) are largely unknown. Endometrial cancer is a common malignant tumor in women and the incidence of this cancer is on the rise. Estrogen-ERα signaling, as an oncogenic pathway, plays a crucial role in endometrial carcinogenesis. Therefore, further exploration of the molecular mechanisms around ERα-mediated gene transcription in ECa would be helpful to the understanding of tumor development and to finding a new therapeutic target for ECa. Here, our study demonstrated that ASH2L was highly expressed in ECa samples, and higher expression of ASH2L was positively correlated with a poor prognosis. Moreover, we identified that ASH2L associated with ERα and that knockdown of ASH2L resulted in decreased expression of a subset of the estrogen-induced target genes, including paired box 2 (PAX2), an oncogenic gene in ECa. ASH2L was recruited to cis-regulatory elements in PAX2, thereby altering histone H3K4me3 and H3K27me3 levels, to enhance ERα-mediated transactivation. Finally, depletion of ASH2L suppressed endometrial cancer cell proliferation and migration. Our findings suggest that ASH2L participates in the promotion of ECa progression, if not totally at least partially, via upregulation of PAX2 transcription.


Assuntos
Carcinoma Endometrioide/patologia , Proteínas de Ligação a DNA/metabolismo , Neoplasias do Endométrio/patologia , Proteínas Nucleares/metabolismo , Fator de Transcrição PAX2/metabolismo , Fatores de Transcrição/metabolismo , Adulto , Idoso , Animais , Carcinoma Endometrioide/genética , Carcinoma Endometrioide/metabolismo , Linhagem Celular Tumoral , Proteínas de Ligação a DNA/genética , Progressão da Doença , Neoplasias do Endométrio/genética , Neoplasias do Endométrio/metabolismo , Feminino , Regulação Neoplásica da Expressão Gênica/genética , Xenoenxertos , Humanos , Camundongos , Camundongos Endogâmicos NOD , Camundongos SCID , Pessoa de Meia-Idade , Proteínas Nucleares/genética , Fator de Transcrição PAX2/genética , Fatores de Transcrição/genética , Ativação Transcricional , Regulação para Cima
7.
Sci Rep ; 10(1): 5016, 2020 Mar 19.
Artigo em Inglês | MEDLINE | ID: mdl-32193460

RESUMO

Modern sugarcane is an unusually complex heteroploid crop, and its genome comprises two or three subgenomes. To reduce the complexity of sugarcane genome research, the ploidy level and number of chromosomes can be reduced using flow chromosome sorting. However, a cell cycle synchronization (CCS) protocol for Saccharum spp. is needed that maximizes the accumulation of metaphase chromosomes. For flow cytometry analysis in this study, we optimized the lysis buffer, hydroxyurea(HU) concentration, HU treatment time and recovery time for sugarcane. We determined the mitotic index by microscopic observation and calculation. We found that WPB buffer was superior to other buffers for preparation of sugarcane nuclei suspensions. The optimal HU treatment was 2 mM for 18 h at 25 °C, 28 °C and 30 °C. Higher recovery treatment temperatures were associated with shorter recovery times (3.5 h, 2.5 h and 1.5 h at 25 °C, 28 °C and 30 °C, respectively). The optimal conditions for treatment with the inhibitor of microtubule polymerization, amiprophos-methyl (APM), were 2.5 µM for 3 h at 25 °C, 28 °C and 30 °C. Meanwhile, preliminary screening of CCS protocols for Badila were used for some main species of genus Saccharum at 25 °C, 28 °C and 30 °C, which showed that the average mitotic index decreased from 25 °C to 30 °C. The optimal sugarcane CCS protocol that yielded a mitotic index of >50% in sugarcane root tips was: 2 mM HU for 18 h, 0.1 X Hoagland's Solution without HU for 3.5 h, and 2.5 µM APM for 3.0 h at 25 °C. The CCS protocol defined in this study should accelerate the development of genomic research and cytobiology research in sugarcane.

8.
EBioMedicine ; 53: 102685, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32113162

RESUMO

BACKGROUND: As a reader of histone H3K4me3, BPTF associated protein of 18 kDa (BAP18) is involved in modulation of androgen receptor action in prostate cancer. However, the function of BAP18 on oral squamous cell carcinoma (OSCC) and its molecular mechanism remains to be elusive. METHODS: OSCC-derived cell lines carrying silenced BAP18 were established by Lentiviral infection. Quantitative PCR (qPCR), western blot, and ChIP assay were performed to detect gene transcription regulation and the possible mechanism. Colony formation, cell growth curve and xenograft tumor experiments were performed to examine cell growth and proliferation. FINDINGS: Our study demonstrated that BAP18 was highly expressed in OSCC samples compared with that in benign. BAP18 depletion obviously influenced the expression of a series of genes, including cell cycle-related genes. We thus provided the evidence to demonstrate that BAP18 depletion significantly decreases CCND1 and CCND2 (CCND1/2) transcription. In addition, BAP18 is recruited to the promoter regions of CCND1/2, thereby facilitating the recruitment of the core subunits of MLL1 complex to the same regions, to increase histone H3K4me3 levels. Furthermore, BAP18 depletion delayed G1-S phase transition and inhibited cell growth in OSCC-derived cell lines. INTERPRETATION: This study suggests that BAP18 is involved in modulation of CCND1/2 transcription and promotes OSCC progression. BAP18 could be a potential target for OSCC treatment and diagnosis. FUND: This work was funded by National Natural Science Foundation of China (31871286, 81872015, 31701102, 81702800, 81902889), Foundation for Special Professor of Liaoning Province, and Supported project for young technological innovation-talents in Shenyang (No. RC170541).

9.
Genome Biol Evol ; 12(3): 210-222, 2020 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-32119100

RESUMO

Sex chromosomes contribute substantially to key evolutionary processes such as speciation and adaptation. Several theories suggest that evolution could occur more rapidly on sex chromosomes, but currently our understanding of whether and how this occurs is limited. Here, we present an analysis of the great tit (Parus major) genome, aiming to detect signals of faster-Z evolution. We find mixed evidence of faster divergence on the Z chromosome than autosomes, with significantly higher divergence being found in ancestral repeats, but not at 4- or 0-fold degenerate sites. Interestingly, some 4-fold sites appear to be selectively constrained, which may mislead analyses that use these sites as the neutral reference (e.g., dN/dS). Consistent with other studies in birds, the mutation rate is significantly higher in males than females, and the long-term Z-to-autosome effective population size ratio is only 0.5, significantly lower than the expected value of 0.75. These are indicative of male-driven evolution and high variance in male reproductive success, respectively. We find no evidence for an increased efficacy of positive selection on the Z chromosome. In contrast, the Z chromosome in great tits appears to be affected by increased genetic drift, which has led to detectable signals of weakened intensity of purifying selection. These results provide further evidence that the Z chromosome often has a low effective population size, and that this has important consequences for its evolution. They also highlight the importance of considering multiple factors that can affect the rate of evolution and effective population sizes of sex chromosomes.

10.
Cancer Biol Ther ; 21(4): 354-363, 2020 Apr 02.
Artigo em Inglês | MEDLINE | ID: mdl-31906774

RESUMO

Background: Transmembrane-4-L-six-family-1 (TM4SF1) functions to regulate cell growth and mobility and TM4SF1 expression was upregulated in pancreatic cancer. This study further investigated the role of TM4SF1 in regulating pancreatic cancer epithelial-mesenchymal transition (EMT) and angiogenesis and the underlying molecular events.Methods: Tissue specimens were collected from 90 pancreatic cancer patients for immunohistochemical and qRT-PCR analysis of miR-141 and TM4SF1 levels, respectively. Pancreatic cancer cell lines were used for in vitro assays, while nude mice were used for the in vivo assay.Results: TM4SF1 expression was upregulated, whereas miR-141 expression was lost in pancreatic cancer tissues, both of which was associated with advanced clinicopathological features and poor survival of pancreatic cancer patients. Furthermore, miR-141 was able to target and reduce TM4SF1 expression in pancreatic cancer cells and miR-141 expression inhibited pancreatic cancer cell EMT in vitro and Matrigel plug angiogenesis and lung metastasis in nude mice. At the gene level, miR-141 directly targeted and reduced TM4SF1 expression and in turn induced E-cadherin expression and reduced VEGF-A expression by suppressing activation of the AKT signaling pathway.Conclusions: This study demonstrated that upregulated TM4SF1 and lost miR-141 expression were associated with advanced clinicopathological features and poor survival of pancreatic cancer patients. Lost miR-141 expression but induced TM4SF1 expression altered expression of VEGF-A and E-cadherin and promoted pancreatic cancer cell EMT and angiogenesis via the AKT signaling pathway, suggesting that targeting of miR-141 and TM4SF1 may be a potential therapeutic strategy to control pancreatic cancer.

11.
J Cell Physiol ; 235(5): 4928-4940, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-31674013

RESUMO

MicroRNA-142-3p (miR-142-3p) was previously investigated in various cancers, whereas, it's role in breast cancer (BC) remains far from understood. In this study, we found that miR-142-3p was markedly decreased both in cell lines and BC tumor tissues. Elevated miR-142-3p expression suppressed growth and metastasis of BC cell lines via gain-of-function assay in vitro and in vivo. Mechanistically, miR-142-3p could regulate the ras-related C3 botulinum toxin substrate 1 (RAC1) expression in protein level, which simultaneously suppressed the epithelial-to-mesenchymal transition related protein levels and the activity of PAK1 phosphorylation, respectively. In addition, rescue experiments revealed RAC1 overexpression could reverse tumor-suppressive role of miR-142-3p. Our results showed miR-142-3p could function as a tumor suppressor via targeting RAC1/PAK1 pathway in BC, suggesting a potent therapeutic target for BC treatment.

12.
Plant Mol Biol ; 102(1-2): 109-122, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31820285

RESUMO

KEY MESSAGE: Drought tolerance level of 136 soybean genotypes, the correlations among traits were evaluated, and several important drought-tolerant genotypes, traits, SNPs and genes were possibly useful for soybean genetic breeding. Drought is an adverse environmental factor affecting crops growth, development, and yield. Promising genotypes and genes with improved tolerance to drought are probably effective ways to alleviate the situation. In this study, our main task was to determine drought tolerance level of 136 soybean genotypes, the correlations among physiological and agronomic traits under drought, and drought-tolerant single nucleotide polymorphism (SNPs) and genes. In this study, twenty-six varieties were identified as excellent tolerant genotypes to stress among which S14, S93 and S135 with high drought-tolerant index (DTI > 1.3) and yield (Y > 300 kg). Fourteen varieties were identified as drought-sensitive genotypes, such as S25, S45 and S58, with low drought-tolerant index (DTI < 0.5). 422 SNPs and 302 genes correlated with seed number per plant (SNPP), maturity (M), number of seeds per pod (NSPP), node number of main stem (NNMS), Stem diameter (SD) and pull stem (PS) were detected under well-watered and drought conditions by genome-wide association study (GWAS). Among them, we found SNPs (Chr 3:1758920-1958934) between drought-tolerant and sensitive genotypes. 13 genes (Glyma.03G017800, Glyma.03G018000, Glyma.03G018200, Glyma.03G018400, Glyma.03G018500, Glyma.03G018600, Glyma.03G018700, Glyma.03G018800, Glyma.03G018900, Glyma.03G019000, Glyma.03G019100, Glyma.03G019200, Glyma.03G019300) correlated with NNMS were detected. By qRT-PCR, the expression level of Glyma.03G018000 and Glyma.03G018900 in drought-tolerant varieties was significantly increased, but low or no expression in sensitive varieties under drought stress. This study provides important drought-tolerant genotypes, traits, SNPs and potential genes, possibly useful for soybean genetic breeding.


Assuntos
Secas , Genótipo , Fenótipo , Melhoramento Vegetal , Soja/fisiologia , Adaptação Fisiológica/genética , Regulação da Expressão Gênica de Plantas , Genes de Plantas/genética , Genoma de Planta/genética , Estudo de Associação Genômica Ampla , Polimorfismo de Nucleotídeo Único , Locos de Características Quantitativas , Sementes , Alinhamento de Sequência , Soja/genética
13.
Nat Nanotechnol ; 15(1): 67-72, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31844287

RESUMO

Topological insulators are materials that behave as insulators in the bulk and as conductors at the edge or surface due to the particular configuration of their bulk band dispersion. However, up to date possible practical applications of this band topology on materials' bulk properties have remained abstract. Here, we propose and experimentally demonstrate a topological bulk laser. We pattern semiconductor nanodisk arrays to form a photonic crystal cavity showing topological band inversion between its interior and cladding area. In-plane light waves are reflected at topological edges forming an effective cavity feedback for lasing. This band-inversion-induced reflection mechanism induces single-mode lasing with directional vertical emission. Our topological bulk laser works at room temperature and reaches the practical requirements in terms of cavity size, threshold, linewidth, side-mode suppression ratio and directionality for most practical applications according to Institute of Electrical and Electronics Engineers and other industry standards. We believe this bulk topological effect will have applications in near-field spectroscopy, solid-state lighting, free-space optical sensing and communication.

14.
Curr Biol ; 29(22): 3921-3927.e5, 2019 Nov 18.
Artigo em Inglês | MEDLINE | ID: mdl-31679927

RESUMO

Evidence of eukaryote-to-eukaryote lateral gene transfer (LGT) has accumulated in recent years [1-14], but the selective pressures governing the evolutionary fate of these genes within recipient species remain largely unexplored [15, 16]. Among non-parasitic plants, successful LGT has been reported between different grass species [5, 8, 11, 16-19]. Here, we use the grass Alloteropsis semialata, a species that possesses multigene LGT fragments that were acquired recently from distantly related grass species [5, 11, 16], to test the hypothesis that the successful LGT conferred an advantage and were thus rapidly swept into the recipient species. Combining whole-genome and population-level RAD sequencing, we show that the multigene LGT fragments were rapidly integrated in the recipient genome, likely due to positive selection for genes encoding proteins that added novel functions. These fragments also contained physically linked hitchhiking protein-coding genes, and subsequent genomic erosion has generated gene presence-absence polymorphisms that persist in multiple geographic locations, becoming part of the standing genetic variation. Importantly, one of the hitchhiking genes underwent a secondary rapid spread in some populations. This shows that eukaryotic LGT can have a delayed impact, contributing to local adaptation and intraspecific ecological diversification. Therefore, while short-term LGT integration is mediated by positive selection on some of the transferred genes, physically linked hitchhikers can remain functional and augment the standing genetic variation with delayed adaptive consequences.

15.
World J Clin Cases ; 7(20): 3194-3201, 2019 Oct 26.
Artigo em Inglês | MEDLINE | ID: mdl-31667169

RESUMO

BACKGROUND: Mesenchymal tumors such as perivascular epithelioid cell neoplasm (PEComa) and inflammatory pseudotumor-like follicular dendritic cell sarcoma (IPT-like FDC sarcoma) are relatively uncommon in the liver and are particularly rare in the caudate lobe. The clinical manifestations and available imaging tests lack specificity for hepatic mesenchymal tumors. To the best of our knowledge, no caudate PEComa or IPT-like FDC sarcoma has been completely resected by laparoscopy. The standard laparoscopic technique, surgical approaches, and tumor margins for potentially malignant or malignant caudate mesenchymal tumors are still being explored. AIM: To assess both the safety and feasibility of laparoscopic resection for rare caudate mesenchymal neoplasms. METHODS: Eleven patients who underwent isolated caudate lobe resection from 2003 to 2017 were identified from a prospective database. Three consecutive patients with rare caudate mesenchymal tumors underwent laparoscopic resection. Patient demographic data, intraoperative parameters, and postoperative outcomes were assessed and compared with the open surgery group. RESULTS: All procedures for the three resection patients with caudate mesenchymal tumors were completed using a total laparoscopic technique by two different approaches. The average operative time was 226 min, and the estimated blood loss was 133 mL. The average length of postoperative hospital stay was 6.3 ± 0.3 d for the laparoscopy group and 15.5 ± 2.3 d for the open surgery group (P < 0.05). There were no perioperative complications or patient deaths in this series. CONCLUSION: Laparoscopic isolated caudate lobe resection for rare mesenchymal neoplasms is a feasible and curative surgical option in selected patients.

16.
Gland Surg ; 8(5): 486-500, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31741879

RESUMO

Background: Breast carcinoma (BC) is a cancer with a high morbidity rate, but the mechanisms by which it develops are never clear. There has been speculation regarding the potential relationships between breast cancer and local HPV infections for some time, and although much clinical research supports this hypothesis, some research results disprove the association. Therefore, the association is still inconclusive. Methods: We performed the data collection by searching the database PubMed, Embase, Cochrane Library and Web of science. In addition, 22 sites were added manually. After carefully selection, the pooled odds rate of 37 included case control studies was calculated. Subgroup analysis, publication bias and trim & fill analysis were conducted to make the result more reliable. Results: The analysis of 37 case control studies containing 3,607 BC cases and 1,728 controls showed obviously increase of BC risk with human papillomavirus (HPV) positive [summary odds ratio (SOR) =6.22, 95% confidence interval 4.25 to 9.12; P=0.0002]. Subgroup analysis proved three high risk HPV types (HPV16, 18 and 33) were positively correlated to BC. Conclusions: This systemic review and meta-analysis provide the evidence for HPV infection as a potential risk factor in BC, while the mechanism of this hypothesis still needs further evaluation.

17.
Disabil Rehabil ; : 1-9, 2019 Aug 22.
Artigo em Inglês | MEDLINE | ID: mdl-31437066

RESUMO

Purpose: To describe the perceived participation and assess its determinants among young and middle-aged stroke patients following acute care one month after discharge in mainland China. Methods: Two hundred and twenty-three patients were consecutively recruited from two tertiary hospitals and were followed up 1 month after discharge in the outpatient department or their communities to assess their participation by using the Impact on Participation and Autonomy Questionnaire, with 23 patients lost to follow-up. Determinants (i.e., sociodemographic, diseased-related, physical, psychological, and social factors) of participation were identified in four domains: indoor autonomy; outdoor autonomy; family role; and social life. Results The overall perceived participation of our respondents was good to fair. Forty-six (23.0%), 32 (16.0%), 13 (6.5%), and 19 (9.5%) perceived their participation as "very good" in the domains of indoor autonomy, family role, outdoor autonomy and social life, respectively. Stroke severity, depressive symptoms, and social support were the common determinants of participation for all the domains, with stroke severity being the strongest correlate. Activities of daily living was associated with indoor autonomy, family role, and outdoor autonomy, but not associated with social life. Conclusions The perceived participation of our respondents is relatively optimistic. Physical health along with mental and social status can affect participation. Tailored strategies should be implemented early in the rehabilitation phase to promote stoke survivors' participation in all the domains. Implications for rehabilitation Although the overall perceived participation of young and middle-aged stroke patients was fair to good, attention should be paid to their family roles. The strategies should be mainly focused on reducing the stroke severity to improve patients' participation. Improving patients' depressive symptom and social support can also be helpful for improving their participation.

18.
Mol Med Rep ; 20(2): 1343-1352, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31173193

RESUMO

Pancreatic cancer is a highly malignant neoplastic disease of the digestive system. In the present study, the dataset GSE62165 was downloaded from the Gene Expression Omnibus (GEO) database. GSE62165 contained the data of 118 pancreatic ductal adenocarcinoma samples (38 early­stage tumors, 62 lymph node metastases and 18 advanced tumors) and 13 control samples. Differences in the expression levels of genes between normal tissues and early­stage tumors were investigated. A total of 240 differentially expressed genes (DEGs) were identified using R software 3.5 (137 upregulated genes and 103 downregulated genes). Then, the differentially expressed genes were subjected to Gene Ontology and Kyoto Encyclopedia of Genes and Genomes analysis. The following 18 core genes were identified using Cytoscape, based on the protein­interaction network of DEGs determined using the online tool STRING: EGF, ALB, COL17A1, FN1, TIMP1, PLAU, PLA2G1B, IGFBP3, PLAUR, VCAN, COL1A1, PNLIP, CTRL, PRSS3, COMP, CPB1, ITGA2 and CEL. The pathways of the core genes were primarily associated with pancreatic secretion, protein digestion and absorption, and focal adhesion. Finally, survival analyses of core genes in pancreatic cancer were conducted using the UALCAN online database. It was revealed that PLAU and COL17A1 were significantly associated with poor prognosis (P<0.05). The expression levels of genes in primary pancreatic cancer tissues were then compared; only one gene, COL17A1, was identified to be significantly differentially expressed. Finally, another dataset from GEO, GSE28735, was analyzed to verify the upregulated expression of COL17A1. Taken together, the results of the present study have indicated that the expression of COL17A1 gene may be associated with the occurrence and development of pancreatic cancer.


Assuntos
Biologia Computacional/métodos , Genes Neoplásicos , Neoplasias Pancreáticas/genética , Adenocarcinoma/genética , Carcinoma Ductal Pancreático/genética , Regulação para Baixo/genética , Regulação Neoplásica da Expressão Gênica , Ontologia Genética , Humanos , Estimativa de Kaplan-Meier , Estadiamento de Neoplasias , Neoplasias Pancreáticas/patologia , Mapas de Interação de Proteínas/genética , Resultado do Tratamento , Regulação para Cima/genética
19.
Nat Commun ; 10(1): 1852, 2019 04 23.
Artigo em Inglês | MEDLINE | ID: mdl-31015412

RESUMO

Colour polymorphisms play a key role in sexual selection and speciation, yet the mechanisms that generate and maintain them are not fully understood. Here, we use genomic and transcriptomic tools to identify the precise genetic architecture and evolutionary history of a sex-linked colour polymorphism in the Gouldian finch Erythrura gouldiae that is also accompanied by remarkable differences in behaviour and physiology. We find that differences in colour are associated with an ~72-kbp region of the Z chromosome in a putative regulatory region for follistatin, an antagonist of the TGF-ß superfamily genes. The region is highly differentiated between morphs, unlike the rest of the genome, yet we find no evidence that an inversion is involved in maintaining the distinct haplotypes. Coalescent simulations confirm that there is elevated nucleotide diversity and an excess of intermediate frequency alleles at this locus. We conclude that this pleiotropic colour polymorphism is most probably maintained by balancing selection.


Assuntos
Tentilhões/fisiologia , Pigmentação/genética , Seleção Genética/fisiologia , Caracteres Sexuais , Cromossomos Sexuais/genética , Animais , Cor , Feminino , Folistatina/genética , Perfilação da Expressão Gênica , Loci Gênicos/fisiologia , Especiação Genética , Estudo de Associação Genômica Ampla , Genômica , Haplótipos/genética , Masculino , Preferência de Acasalamento Animal/fisiologia , Polimorfismo Genético , Sequenciamento Completo do Genoma
20.
Genome Biol Evol ; 11(6): 1514-1524, 2019 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-30924871

RESUMO

Insertions and deletions (INDELs) remain understudied, despite being the most common form of genetic variation after single nucleotide polymorphisms. This stems partly from the challenge of correctly identifying the ancestral state of an INDEL and thus identifying it as an insertion or a deletion. Erroneously assigned ancestral states can skew the site frequency spectrum, leading to artificial signals of selection. Consequently, the selective pressures acting on INDELs are, at present, poorly resolved. To tackle this issue, we have recently published a maximum likelihood approach to estimate the mutation rate and the distribution of fitness effects for INDELs. Our approach estimates and controls for the rate of ancestral state misidentification, overcoming issues plaguing previous INDEL studies. Here, we apply the method to INDEL polymorphism data from ten high coverage (∼44×) European great tit (Parus major) genomes. We demonstrate that coding INDELs are under strong purifying selection with a small proportion making it into the population (∼4%). However, among fixed coding INDELs, 71% of insertions and 86% of deletions are fixed by positive selection. In noncoding regions, we estimate ∼80% of insertions and ∼52% of deletions are effectively neutral, the remainder show signatures of purifying selection. Additionally, we see evidence of linked selection reducing INDEL diversity below background levels, both in proximity to exons and in areas of low recombination.


Assuntos
Mutação INDEL , Passeriformes/genética , Seleção Genética , Animais , Éxons , Aptidão Genética , Estudo de Associação Genômica Ampla , Funções Verossimilhança , Taxa de Mutação , Polimorfismo de Nucleotídeo Único , Recombinação Genética
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