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Pesquisa : A11.284.430.106.279.345.175 [Categoria DeCS]
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[PMID]:29429165
[Au] Autor:Zhou JX; He XR; Song GX; Zou ZG; Wang LH; Hu R; Li HX
[Ad] Endereço:Department of Pathology, First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, China.
[Ti] Título:[Clinicopathologic features with collecting duct carcinoma of kidney: report of 10 cases].
[So] Source:Zhonghua Bing Li Xue Za Zhi;47(2):123-127, 2018 Feb 08.
[Is] ISSN:0529-5807
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:To study the pathological features, immunophenotypes, differential diagnoses and prognostic parameters of collecting duct carcinoma of the kidney (CDC). Clinical imaging, histopathology, immunohistochemistry, and survival data of 10 patients at First Affiliated Hospital of Nanjing Medical University from January 2009 to August 2017 were retrospectively analyzed along with a review of literatures. The clinical symptoms of CDC were not specific, and image examinations showed space-occupying mass lesions. Tumors were mainly located in renal medulla with grey and firm cut face and the presence of focal hemorrhage and necrosis. Microscopically, there were predominant tubular or tubular-papillary structures with associated focal sarcomatoid areas, desmoplastic stromal reaction and lymphoplasmacytic cells infiltration. Tumor cells had marked cytological atypia with high grade nuclei, conspicuous nucleolus and numerous mitoses. Immunohistochemically, tumor cells were strongly positive for CK19, E-cadherin, vimentin, HCK, CK7 and PAX8. The main treatment was radical nephrectomy in the patients. Seven cases died of CDC with median survival of 10 months. CDC is a rare, highly aggressive malignancy of kidney with poor prognosis. Definitive diagnosis should be made by histology and immunohistochemistry. Differential diagnoses include papillary renal cell carcinoma(type â…¡), renal medullary carcinoma, infiltrating high grade urothelial carcinoma, renal pelvis adenocarcinoma and metastatic adenocarcinomas.
[Mh] Termos MeSH primário: Carcinoma de Células Renais/patologia
Neoplasias Renais/patologia
Túbulos Renais Coletores/patologia
[Mh] Termos MeSH secundário: Caderinas/análise
Carcinoma de Células Renais/química
Carcinoma de Células de Transição/patologia
Nucléolo Celular
Núcleo Celular
Diagnóstico Diferencial
Seres Humanos
Imuno-Histoquímica
Neoplasias Renais/química
Túbulos Renais Coletores/química
Necrose/patologia
Vimentina/análise
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CDH1 protein, human); 0 (Cadherins); 0 (Vimentin)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180306
[Lr] Data última revisão:
180306
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180213
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.0529-5807.2018.02.009


  2 / 9694 MEDLINE  
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[PMID]:29190286
[Au] Autor:Tchelidze P; Benassarou A; Kaplan H; O'Donohue MF; Lucas L; Terryn C; Rusishvili L; Mosidze G; Lalun N; Ploton D
[Ad] Endereço:Faculty of Exact and Life Sciences, Department of Morphology, Tbilisi State University, Tbilisi, Georgia.
[Ti] Título:Nucleolar sub-compartments in motion during rRNA synthesis inhibition: Contraction of nucleolar condensed chromatin and gathering of fibrillar centers are concomitant.
[So] Source:PLoS One;12(11):e0187977, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The nucleolus produces the large polycistronic transcript (47S precursor) containing the 18S, 5.8S and 28S rRNA sequences and hosts most of the nuclear steps of pre-rRNA processing. Among numerous components it contains condensed chromatin and active rRNA genes which adopt a more accessible conformation. For this reason, it is a paradigm of chromosome territory organization. Active rRNA genes are clustered within several fibrillar centers (FCs), in which they are maintained in an open configuration by Upstream Binding Factor (UBF) molecules. Here, we used the reproducible reorganization of nucleolar components induced by the inhibition of rRNA synthesis by Actinomycin D (AMD) to address the steps of the spatiotemporal reorganization of FCs and nucleolar condensed chromatin. To reach that goal, we used two complementary approaches: i) time-lapse confocal imaging of cells expressing one or several GFP-tagged proteins (fibrillarin, UBF, histone H2B) and ii) ultrastructural identification of nucleolar components involved in the reorganization. Data obtained by time lapse confocal microscopy were analyzed through detailed 3D imaging. This allowed us to demonstrate that AMD treatment induces no fusion and no change in the relative position of the different nucleoli contained in one nucleus. In contrast, for each nucleolus, we observed step by step gathering and fusion of both FCs and nucleolar condensed chromatin. To analyze the reorganization of FCs and condensed chromatin at a higher resolution, we performed correlative light and electron microscopy electron microscopy (CLEM) imaging of the same cells. We demonstrated that threads of intranucleolar condensed chromatin are localized in a complex 3D network of vacuoles. Upon AMD treatment, these structures coalesce before migrating toward the perinucleolar condensed chromatin, to which they finally fuse. During their migration, FCs, which are all linked to ICC, are pulled by the latter to gather as caps disposed at the periphery of nucleoli.
[Mh] Termos MeSH primário: Compartimento Celular
Nucléolo Celular/metabolismo
Cromatina/metabolismo
RNA Ribossômico/antagonistas & inibidores
[Mh] Termos MeSH secundário: Linhagem Celular Tumoral
Dactinomicina/farmacologia
Seres Humanos
Microscopia Eletrônica de Transmissão
RNA Ribossômico/biossíntese
RNA Ribossômico/efeitos dos fármacos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Chromatin); 0 (RNA, Ribosomal); 1CC1JFE158 (Dactinomycin)
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171226
[Lr] Data última revisão:
171226
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171201
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0187977


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[PMID]:28457024
[Au] Autor:Golstein P
[Ad] Endereço:Centre d'Immunologie de Marseille-Luminy, Aix Marseille Université, Inserm, CNRS, France.
[Ti] Título:Conserved nucleolar stress at the onset of cell death.
[So] Source:FEBS J;284(22):3791-3800, 2017 Nov.
[Is] ISSN:1742-4658
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Cell death pervasiveness among multicellular eukaryotes suggested that some core steps of cell death may be conserved. This could be addressed by comparing the course of cell death in organisms belonging to distinct eukaryotic kingdoms. A search for early cell death events in a protist revealed nucleolar disorganization similar to the nucleolar stress often reported in dying animal cells. This indicated a conserved role for the nucleolus at the onset of eukaryotic cell death and leads one to consider the course of cell death as a succession of unequally conserved modules.
[Mh] Termos MeSH primário: Morte Celular
Nucléolo Celular/patologia
Proteínas Nucleares/metabolismo
Estresse Fisiológico
[Mh] Termos MeSH secundário: Animais
Nucléolo Celular/metabolismo
Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Nuclear Proteins)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171128
[Lr] Data última revisão:
171128
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170501
[St] Status:MEDLINE
[do] DOI:10.1111/febs.14095


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[PMID]:29065309
[Au] Autor:Liu Y; Mattila J; Ventelä S; Yadav L; Zhang W; Lamichane N; Sundström J; Kauko O; Grénman R; Varjosalo M; Westermarck J; Hietakangas V
[Ad] Endereço:Department of Biosciences, University of Helsinki, 00790 Helsinki, Finland; Institute of Biotechnology, University of Helsinki, 00790 Helsinki, Finland.
[Ti] Título:PWP1 Mediates Nutrient-Dependent Growth Control through Nucleolar Regulation of Ribosomal Gene Expression.
[So] Source:Dev Cell;43(2):240-252.e5, 2017 Oct 23.
[Is] ISSN:1878-1551
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Ribosome biogenesis regulates animal growth and is controlled by nutrient-responsive mTOR signaling. How ribosome biogenesis is regulated during the developmental growth of animals and how nutrient-responsive signaling adjusts ribosome biogenesis in this setting have remained insufficiently understood. We uncover PWP1 as a chromatin-associated regulator of developmental growth with a conserved role in RNA polymerase I (Pol I)-mediated rRNA transcription. We further observed that PWP1 epigenetically maintains the rDNA loci in a transcription-competent state. PWP1 responds to nutrition in Drosophila larvae via mTOR signaling through gene expression and phosphorylation, which controls the nucleolar localization of dPWP1. Our data further imply that dPWP1 acts synergistically with mTOR signaling to regulate the nucleolar localization of TFIIH, a known elongation factor of Pol I. Ribosome biogenesis is often deregulated in cancer, and we demonstrate that high PWP1 levels in human head and neck squamous cell carcinoma tumors are associated with poor prognosis.
[Mh] Termos MeSH primário: Carcinoma de Células Escamosas/patologia
Proteínas de Ciclo Celular/metabolismo
Nucléolo Celular/metabolismo
Alimentos
Regulação da Expressão Gênica
Neoplasias de Cabeça e Pescoço/patologia
Proteínas Nucleares/metabolismo
Ribossomos/genética
[Mh] Termos MeSH secundário: Animais
Carcinoma de Células Escamosas/genética
Carcinoma de Células Escamosas/metabolismo
Proteínas de Ciclo Celular/genética
Cromatina/genética
DNA Ribossômico/genética
Drosophila/genética
Drosophila/crescimento & desenvolvimento
Drosophila/metabolismo
Neoplasias de Cabeça e Pescoço/genética
Neoplasias de Cabeça e Pescoço/metabolismo
Seres Humanos
Proteínas Nucleares/genética
Fosforilação
Prognóstico
RNA Polimerase I/metabolismo
RNA Ribossômico/genética
Transdução de Sinais
Taxa de Sobrevida
Serina-Treonina Quinases TOR/metabolismo
Transcrição Genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Cell Cycle Proteins); 0 (Chromatin); 0 (DNA, Ribosomal); 0 (Nuclear Proteins); 0 (PWP1 protein, human); 0 (RNA, Ribosomal); EC 2.7.1.1 (TOR Serine-Threonine Kinases); EC 2.7.7.6 (RNA Polymerase I)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171031
[Lr] Data última revisão:
171031
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171025
[St] Status:MEDLINE


  5 / 9694 MEDLINE  
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[PMID]:28977560
[Au] Autor:Shen W; Sun H; De Hoyos CL; Bailey JK; Liang XH; Crooke ST
[Ad] Endereço:Department of Core Antisense Research, Ionis Pharmaceuticals, Inc., 2855 Gazelle Court, Carlsbad, CA 92010, USA.
[Ti] Título:Dynamic nucleoplasmic and nucleolar localization of mammalian RNase H1 in response to RNAP I transcriptional R-loops.
[So] Source:Nucleic Acids Res;45(18):10672-10692, 2017 Oct 13.
[Is] ISSN:1362-4962
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:An R-loop is a DNA:RNA hybrid formed during transcription when a DNA duplex is invaded by a nascent RNA transcript. R-loops accumulate in nucleoli during RNA polymerase I (RNAP I) transcription. Here, we report that mammalian RNase H1 enriches in nucleoli and co-localizes with R-loops in cultured human cells. Co-migration of RNase H1 and R-loops from nucleoli to perinucleolar ring structures was observed upon inhibition of RNAP I transcription. Treatment with camptothecin which transiently stabilized nucleolar R-loops recruited RNase H1 to the nucleoli. It has been reported that the absence of Topoisomerase and RNase H activity in Escherichia coli or Saccharomyces cerevisiae caused R-loop accumulation along rDNA. We found that the distribution of RNase H1 and Top1 along rDNA coincided at sites where R-loops accumulated in mammalian cells. Loss of either RNase H1 or Top1 caused R-loop accumulation, and the accumulation of R-loops was exacerbated when both proteins were depleted. Importantly, we observed that protein levels of Top1 were negatively correlated with the abundance of RNase H1. We conclude that Top1 and RNase H1 are partially functionally redundant in mammalian cells to suppress RNAP I transcription-associate R-loops.
[Mh] Termos MeSH primário: Nucléolo Celular/genética
DNA Ribossômico/química
RNA Polimerase I/metabolismo
Ribonuclease H/análise
Transcrição Genética
[Mh] Termos MeSH secundário: Animais
Camptotecina/farmacologia
Nucléolo Celular/efeitos dos fármacos
Nucléolo Celular/enzimologia
Dano ao DNA
DNA Topoisomerases Tipo I/análise
DNA Ribossômico/metabolismo
Células HEK293
Células HeLa
Seres Humanos
Camundongos Knockout
Domínios Proteicos
RNA/química
RNA Polimerase I/análise
Ribonuclease H/química
Ribonuclease H/metabolismo
Transcrição Genética/efeitos dos fármacos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DNA, Ribosomal); 63231-63-0 (RNA); EC 2.7.7.- (RPA194 protein, human); EC 2.7.7.6 (RNA Polymerase I); EC 3.1.26.4 (Ribonuclease H); EC 3.1.26.4 (ribonuclease HI); EC 5.99.1.2 (DNA Topoisomerases, Type I); EC 5.99.1.2 (TOP1 protein, human); XT3Z54Z28A (Camptothecin)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171107
[Lr] Data última revisão:
171107
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171005
[St] Status:MEDLINE
[do] DOI:10.1093/nar/gkx710


  6 / 9694 MEDLINE  
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[PMID]:28935370
[Au] Autor:Hayashi Y; Kato K; Kimura K
[Ad] Endereço:Graduate School of Life and Environmental Sciences, University of Tsukuba, 1-1-1 Tenno-dai, Tsukuba Science City, Ibaraki 305-8577, Japan.
[Ti] Título:The hierarchical structure of the perichromosomal layer comprises Ki67, ribosomal RNAs, and nucleolar proteins.
[So] Source:Biochem Biophys Res Commun;493(2):1043-1049, 2017 Nov 18.
[Is] ISSN:1090-2104
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The perichromosomal layer (PCL) is a structure that surrounds mitotic chromosomes, found in both animal and plant cells. It comprises various proteins and RNAs, mainly derived from the nucleolus. Several functions for the PCL have been suggested; however, the mechanism of PCL organization during mitosis remains unclear. The localization of several nucleolar proteins to the PCL is reportedly dependent on pre-ribosomal RNAs and the marker of proliferation, Ki67, which is a major PCL-localized protein. Here we demonstrate that, although the removal of pre-ribosomal RNAs from the PCL causes PCL delocalization of several nucleolar proteins, it does not affect the localization of Ki67. Conversely, Ki67 depletion results in the dissociation of both pre-ribosomal RNAs and nucleolar proteins from the PCL, which indicates that Ki67 is required for the PCL accumulation of pre-ribosomal RNAs, to which several nucleolar proteins are associated. Given these findings, we propose a model for PCL organization that comprises three essential layers: the scaffolding protein Ki67, pre-ribosomal RNAs for linkage, and outer nucleolar proteins.
[Mh] Termos MeSH primário: Nucléolo Celular/química
Antígeno Ki-67/análise
Proteínas Nucleares/análise
Precursores de RNA/análise
RNA Ribossômico/análise
[Mh] Termos MeSH secundário: Nucléolo Celular/metabolismo
Nucléolo Celular/ultraestrutura
Cromossomos/química
Cromossomos/metabolismo
Células HeLa
Seres Humanos
Antígeno Ki-67/metabolismo
Mitose
Proteínas Nucleares/metabolismo
Precursores de RNA/metabolismo
RNA Ribossômico/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Ki-67 Antigen); 0 (Nuclear Proteins); 0 (RNA Precursors); 0 (RNA, Ribosomal)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171023
[Lr] Data última revisão:
171023
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170923
[St] Status:MEDLINE


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[PMID]:28880866
[Au] Autor:Wang M; Lemos B
[Ad] Endereço:Department of Environmental Health & Molecular and Integrative Physiological Sciences program, Harvard T. H. Chan School of Public Health, Boston, Massachusetts, United States of America.
[Ti] Título:Ribosomal DNA copy number amplification and loss in human cancers is linked to tumor genetic context, nucleolus activity, and proliferation.
[So] Source:PLoS Genet;13(9):e1006994, 2017 Sep.
[Is] ISSN:1553-7404
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Ribosomal RNAs (rRNAs) are transcribed from two multicopy DNA arrays: the 5S ribosomal DNA (rDNA) array residing in a single human autosome and the 45S rDNA array residing in five human autosomes. The arrays are among the most variable segments of the genome, exhibit concerted copy number variation (cCNV), encode essential components of the ribosome, and modulate global gene expression. Here we combined whole genome data from >700 tumors and paired normal tissues to provide a portrait of rDNA variation in human tissues and cancers of diverse mutational signatures, including stomach and lung adenocarcinomas, ovarian cancers, and others of the TCGA panel. We show that cancers undergo coupled 5S rDNA array expansion and 45S rDNA loss that is accompanied by increased estimates of proliferation rate and nucleolar activity. These somatic changes in rDNA CN occur in a background of over 10-fold naturally occurring rDNA CN variation across individuals and cCNV of 5S-45S arrays in some but not all tissues. Analysis of genetic context revealed associations between cancer rDNA CN amplification or loss and the presence of specific somatic alterations, including somatic SNPs and copy number gain/losses in protein coding genes across the cancer genome. For instance, somatic inactivation of the tumor suppressor gene TP53 emerged with a strong association with coupled 5S expansion / 45S loss in several cancers. Our results uncover frequent and contrasting changes in the 5S and 45S rDNA along rapidly proliferating cell lineages with high nucleolar activity. We suggest that 5S rDNA amplification facilitates increased proliferation, nucleolar activity, and ribosomal synthesis in cancer, whereas 45S rDNA loss emerges as a byproduct of transcription-replication conflict in rapidly replicating tumor cells. The observations raise the prospects of using the rDNA arrays as re-emerging targets for the design of novel strategies in cancer therapy.
[Mh] Termos MeSH primário: Proliferação Celular/genética
Variações do Número de Cópias de DNA/genética
DNA Ribossômico/genética
Neoplasias/genética
[Mh] Termos MeSH secundário: Nucléolo Celular/genética
Genoma Humano
Seres Humanos
Hibridização in Situ Fluorescente
Neoplasias/patologia
Polimorfismo de Nucleotídeo Único/genética
RNA Ribossômico/genética
RNA Ribossômico 5S/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DNA, Ribosomal); 0 (RNA, Ribosomal); 0 (RNA, Ribosomal, 5S); 0 (RNA, ribosomal, 45S)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171010
[Lr] Data última revisão:
171010
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170908
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pgen.1006994


  8 / 9694 MEDLINE  
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[PMID]:28853863
[Au] Autor:Wolters JEJ; van Breda SGJ; Caiment F; Claessen SM; de Kok TMCM; Kleinjans JCS
[Ad] Endereço:Department of Toxicogenomics, GROW School for Oncology and Developmental Biology, Maastricht University , P.O. Box 616, Maastricht 6200 MD, The Netherlands.
[Ti] Título:Nuclear and Mitochondrial DNA Methylation Patterns Induced by Valproic Acid in Human Hepatocytes.
[So] Source:Chem Res Toxicol;30(10):1847-1854, 2017 Oct 16.
[Is] ISSN:1520-5010
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Valproic acid (VPA) is one of the most widely prescribed antiepileptic drugs in the world. Despite its pharmacological importance, it may cause liver toxicity and steatosis through mitochondrial dysfunction. The aim of this study is to further investigate VPA-induced mechanisms of steatosis by analyzing changes in patterns of methylation in nuclear DNA (nDNA) and mitochondrial DNA (mtDNA). Therefore, primary human hepatocytes (PHHs) were exposed to an incubation concentration of VPA that was shown to cause steatosis without inducing overt cytotoxicity. VPA was administered daily for 5 days, and this was followed by a 3 day washout (WO). Methylated DNA regions (DMRs) were identified by using the methylated DNA immunoprecipitation-sequencing (MeDIP-seq) method. The nDNA DMRs after VPA treatment could indeed be classified into oxidative stress- and steatosis-related pathways. In particular, networks of the steatosis-related gene EP300 provided novel insight into the mechanisms of toxicity induced by VPA treatment. Furthermore, we suggest that VPA induces a crosstalk between nDNA hypermethylation and mtDNA hypomethylation that plays a role in oxidative stress and steatosis development. Although most VPA-induced methylation patterns appeared reversible upon terminating VPA treatment, 31 nDNA DMRs (including 5 zinc finger protein genes) remained persistent after the WO period. Overall, we have shown that MeDIP-seq analysis is highly informative in disclosing novel mechanisms of VPA-induced toxicity in PHHs. Our results thus provide a prototype for the novel generation of interesting methylation biomarkers for repeated dose liver toxicity in vitro.
[Mh] Termos MeSH primário: Nucléolo Celular/efeitos dos fármacos
Metilação de DNA/efeitos dos fármacos
DNA Mitocondrial/efeitos dos fármacos
Hepatócitos/efeitos dos fármacos
Ácido Valproico/farmacologia
[Mh] Termos MeSH secundário: Nucléolo Celular/metabolismo
DNA Mitocondrial/metabolismo
Hepatócitos/metabolismo
Seres Humanos
Relação Estrutura-Atividade
Células Tumorais Cultivadas
Ácido Valproico/administração & dosagem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DNA, Mitochondrial); 614OI1Z5WI (Valproic Acid)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171101
[Lr] Data última revisão:
171101
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170831
[St] Status:MEDLINE
[do] DOI:10.1021/acs.chemrestox.7b00171


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[PMID]:28777933
[Au] Autor:Edvardson S; Nicolae CM; Agrawal PB; Mignot C; Payne K; Prasad AN; Prasad C; Sadler L; Nava C; Mullen TE; Begtrup A; Baskin B; Powis Z; Shaag A; Keren B; Moldovan GL; Elpeleg O
[Ad] Endereço:Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel; Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.
[Ti] Título:Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood.
[So] Source:Am J Hum Genet;101(2):267-273, 2017 Aug 03.
[Is] ISSN:1537-6605
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Ribosomal RNA (rRNA) is transcribed from rDNA by RNA polymerase I (Pol I) to produce the 45S precursor of the 28S, 5.8S, and 18S rRNA components of the ribosome. Two transcription factors have been defined for Pol I in mammals, the selectivity factor SL1, and the upstream binding transcription factor (UBF), which interacts with the upstream control element to facilitate the assembly of the transcription initiation complex including SL1 and Pol I. In seven unrelated affected individuals, all suffering from developmental regression starting at 2.5-7 years, we identified a heterozygous variant, c.628G>A in UBTF, encoding p.Glu210Lys in UBF, which occurred de novo in all cases. While the levels of UBF, Ser388 phosphorylated UBF, and other Pol I-related components (POLR1E, TAF1A, and TAF1C) remained unchanged in cells of an affected individual, the variant conferred gain of function to UBF, manifesting by markedly increased UBF binding to the rDNA promoter and to the 5'- external transcribed spacer. This was associated with significantly increased 18S expression, and enlarged nucleoli which were reduced in number per cell. The data link neurodegeneration in childhood with altered rDNA chromatin status and rRNA metabolism.
[Mh] Termos MeSH primário: Encefalopatias/genética
Nucléolo Celular/patologia
Doenças Neurodegenerativas/genética
Proteínas Pol1 do Complexo de Iniciação de Transcrição/genética
RNA Ribossômico 18S/biossíntese
[Mh] Termos MeSH secundário: Adolescente
Adulto
Atrofia/genética
Encéfalo/patologia
Encefalopatias/patologia
Criança
Cromatina/metabolismo
Proteínas de Ligação a DNA/genética
Feminino
Seres Humanos
Masculino
Doenças Neurodegenerativas/patologia
Polimorfismo de Nucleotídeo Único/genética
Regiões Promotoras Genéticas/genética
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Chromatin); 0 (DNA-Binding Proteins); 0 (Pol1 Transcription Initiation Complex Proteins); 0 (RNA, Ribosomal, 18S); 0 (transcription factor UBF)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170907
[Lr] Data última revisão:
170907
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170805
[St] Status:MEDLINE


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[PMID]:28751161
[Au] Autor:Jia W; Yao Z; Zhao J; Guan Q; Gao L
[Ad] Endereço:Department of Endocrinology, Shandong Provincial Hospital affiliated to Shandong University, Jinan, Shandong Province, PR China; Shandong Provincial Key Laboratory of Endocrinology and Lipid Metabolism, Jinan, Shandong Province, PR China; Institute of Endocrinology and Metabolism, Shandong Academy o
[Ti] Título:New perspectives of physiological and pathological functions of nucleolin (NCL).
[So] Source:Life Sci;186:1-10, 2017 Oct 01.
[Is] ISSN:1879-0631
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Nucleolin (NCL) is a multifunctional protein that mainly localized in the nucleolus, it is also found in the nucleoplasm, cytoplasm and cell membrane. The three main structural domains allow the interaction of NCL with different proteins and RNA sequences. Moreover, specific post-translational modifications and its shuttling property also contribute to its multifunctionality. NCL has been demonstrated to be involved in a variety of aspects such as ribosome biogenesis, chromatin organization and stability, DNA and RNA metabolism, cytokinesis, cell proliferation, angiogenesis, apoptosis regulation, stress response and microRNA processing. NCL has been increasingly implicated in several pathological processes, especially in tumorigenesis and viral infection, which makes NCL a potential target for the development of anti-tumor and anti-viral strategies. In this review, we present an overview on the structure, localizations and various functions of NCL, and further describe how the multiple functions of NCL are correlated to its multiple cellular distributions.
[Mh] Termos MeSH primário: Nucléolo Celular/metabolismo
Neoplasias
Fosfoproteínas/fisiologia
Proteínas de Ligação a RNA/fisiologia
Viroses
[Mh] Termos MeSH secundário: Apoptose/fisiologia
Citoplasma/metabolismo
Seres Humanos
Neoplasias/metabolismo
Neoplasias/patologia
Proteínas Nucleares/fisiologia
Região Organizadora do Nucléolo/fisiologia
Fosfoproteínas/química
Fosfoproteínas/genética
Domínios Proteicos/fisiologia
Proteínas de Ligação a RNA/química
Proteínas de Ligação a RNA/genética
Viroses/metabolismo
Viroses/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Nuclear Proteins); 0 (Phosphoproteins); 0 (RNA-Binding Proteins); 0 (nucleolin)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170919
[Lr] Data última revisão:
170919
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170729
[St] Status:MEDLINE



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