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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]:28715449
[Au] Autor:Herdman C; Mars JC; Stefanovsky VY; Tremblay MG; Sabourin-Felix M; Lindsay H; Robinson MD; Moss T
[Ad] Endereço:Laboratory of Growth and Development, St-Patrick Research Group in Basic Oncology, Cancer Division of the Quebec University Hospital Research Centre, Québec, Canada.
[Ti] Título:A unique enhancer boundary complex on the mouse ribosomal RNA genes persists after loss of Rrn3 or UBF and the inactivation of RNA polymerase I transcription.
[So] Source:PLoS Genet;13(7):e1006899, 2017 Jul.
[Is] ISSN:1553-7404
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Transcription of the several hundred of mouse and human Ribosomal RNA (rRNA) genes accounts for the majority of RNA synthesis in the cell nucleus and is the determinant of cytoplasmic ribosome abundance, a key factor in regulating gene expression. The rRNA genes, referred to globally as the rDNA, are clustered as direct repeats at the Nucleolar Organiser Regions, NORs, of several chromosomes, and in many cells the active repeats are transcribed at near saturation levels. The rDNA is also a hotspot of recombination and chromosome breakage, and hence understanding its control has broad importance. Despite the need for a high level of rDNA transcription, typically only a fraction of the rDNA is transcriptionally active, and some NORs are permanently silenced by CpG methylation. Various chromatin-remodelling complexes have been implicated in counteracting silencing to maintain rDNA activity. However, the chromatin structure of the active rDNA fraction is still far from clear. Here we have combined a high-resolution ChIP-Seq protocol with conditional inactivation of key basal factors to better understand what determines active rDNA chromatin. The data resolve questions concerning the interdependence of the basal transcription factors, show that preinitiation complex formation is driven by the architectural factor UBF (UBTF) independently of transcription, and that RPI termination and release corresponds with the site of TTF1 binding. They further reveal the existence of an asymmetric Enhancer Boundary Complex formed by CTCF and Cohesin and flanked upstream by phased nucleosomes and downstream by an arrested RNA Polymerase I complex. We find that the Enhancer Boundary Complex is the only site of active histone modification in the 45kbp rDNA repeat. Strikingly, it not only delimits each functional rRNA gene, but also is stably maintained after gene inactivation and the re-establishment of surrounding repressive chromatin. Our data define a poised state of rDNA chromatin and place the Enhancer Boundary Complex as the likely entry point for chromatin remodelling complexes.
[Mh] Termos MeSH primário: Genes de RNAr
Proteínas Pol1 do Complexo de Iniciação de Transcrição/genética
RNA Polimerase I/metabolismo
[Mh] Termos MeSH secundário: Animais
Células Cultivadas
Montagem e Desmontagem da Cromatina
Elementos Facilitadores Genéticos
Feminino
Deleção de Genes
Inativação Gênica
Loci Gênicos
Camundongos
Camundongos Knockout
Proteínas Nucleares/genética
Proteínas Nucleares/metabolismo
Região Organizadora do Nucléolo/genética
Região Organizadora do Nucléolo/metabolismo
Proteínas Pol1 do Complexo de Iniciação de Transcrição/metabolismo
Gravidez
RNA Polimerase I/genética
Análise de Sequência de DNA
Fatores de Transcrição/genética
Fatores de Transcrição/metabolismo
Transcrição Genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Nuclear Proteins); 0 (Pol1 Transcription Initiation Complex Proteins); 0 (Rrn3 protein, mouse); 0 (Transcription Factors); 0 (transcription factor UBF); 0 (transcriptional intermediary factor 1); EC 2.7.7.6 (RNA Polymerase I)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170822
[Lr] Data última revisão:
170822
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170718
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pgen.1006899


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[PMID]:28636660
[Au] Autor:Assfalg R; Alupei MC; Wagner M; Koch S; Gonzalez OG; Schelling A; Scharffetter-Kochanek K; Iben S
[Ad] Endereço:Department of Dermatology and Allergic Diseases, University of Ulm, Ulm, Germany.
[Ti] Título:Cellular sensitivity to UV-irradiation is mediated by RNA polymerase I transcription.
[So] Source:PLoS One;12(6):e0179843, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The nucleolus has long been considered to be a pure ribosome factory. However, over the last two decades it became clear that the nucleolus is involved in numerous other functions besides ribosome biogenesis. Our experiments indicate that the activity of RNA polymerase I (Pol I) transcription monitors the integrity of the DNA and influences the response to nucleolar stress as well as the rate of survival. Cells with a repressed ribosomal DNA (rDNA) transcription activity showed an increased and prolonged p53 stabilisation after UVC-irradiation. Furthermore, p53 stabilisation after inhibition and especially after UVC-irradiation might be due to abrogation of the HDM2-p53 degradation pathway by ribosomal proteins (RPs). Apoptosis mediated by highly activated p53 is a typical hallmark of Cockayne syndrome cells and transcriptional abnormalities and the following activation of the RP-HDM2-p53 pathway would be a possible explanation.
[Mh] Termos MeSH primário: RNA Polimerase I/metabolismo
Transcrição Genética/efeitos da radiação
Raios Ultravioleta
[Mh] Termos MeSH secundário: Apoptose/efeitos da radiação
Linhagem Celular
Células HCT116
Seres Humanos
Proteínas Pol1 do Complexo de Iniciação de Transcrição/antagonistas & inibidores
Proteínas Pol1 do Complexo de Iniciação de Transcrição/genética
Proteínas Pol1 do Complexo de Iniciação de Transcrição/metabolismo
Estabilidade Proteica/efeitos da radiação
Proteínas Proto-Oncogênicas c-mdm2/metabolismo
Interferência de RNA
RNA Polimerase I/genética
RNA Ribossômico/metabolismo
RNA Interferente Pequeno/metabolismo
Proteína Supressora de Tumor p53/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Pol1 Transcription Initiation Complex Proteins); 0 (RNA, Ribosomal); 0 (RNA, Small Interfering); 0 (RRN3 protein, human); 0 (TP53 protein, human); 0 (Tumor Suppressor Protein p53); EC 2.3.2.27 (MDM2 protein, human); EC 2.3.2.27 (Proto-Oncogene Proteins c-mdm2); EC 2.7.7.6 (RNA Polymerase I)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170915
[Lr] Data última revisão:
170915
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170622
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0179843


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[PMID]:28532216
[Au] Autor:Nogales E; Louder RK; He Y
[Ad] Endereço:Molecular and Cell Biology Department and QB3 Institute, University of California, Berkeley, California 94720-3220.
[Ti] Título:Structural Insights into the Eukaryotic Transcription Initiation Machinery.
[So] Source:Annu Rev Biophys;46:59-83, 2017 May 22.
[Is] ISSN:1936-1238
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Eukaryotic gene transcription requires the assembly at the promoter of a large preinitiation complex (PIC) that includes RNA polymerase II (Pol II) and the general transcription factors TFIID, TFIIA, TFIIB, TFIIF, TFIIE, and TFIIH. The size and complexity of Pol II, TFIID, and TFIIH have precluded their reconstitution from heterologous systems, and purification relies on scarce endogenous sources. Together with their conformational flexibility and the transient nature of their interactions, these limitations had precluded structural characterization of the PIC. In the last few years, however, progress in cryo-electron microscopy (cryo-EM) has made possible the visualization, at increasingly better resolution, of large PIC assemblies in different functional states. These structures can now be interpreted in near-atomic detail and provide an exciting structural framework for past and future functional studies, giving us unique mechanistic insight into the complex process of transcription initiation.
[Mh] Termos MeSH primário: RNA Polimerase II/metabolismo
Fatores de Transcrição TFII/metabolismo
Transcrição Genética
[Mh] Termos MeSH secundário: Animais
Eucariotos
Seres Humanos
Complexos Multiproteicos/genética
Complexos Multiproteicos/metabolismo
Proteínas Pol1 do Complexo de Iniciação de Transcrição
Regiões Promotoras Genéticas
RNA Polimerase II/genética
Fatores de Transcrição TFII/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Multiprotein Complexes); 0 (Pol1 Transcription Initiation Complex Proteins); 0 (TFID transcription factor); 0 (Transcription Factors, TFII); 0 (transcription factor TFIIE); EC 2.7.7.- (RNA Polymerase II)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170821
[Lr] Data última revisão:
170821
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170524
[St] Status:MEDLINE
[do] DOI:10.1146/annurev-biophys-070816-033751


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[PMID]:28283481
[Au] Autor:Hein N; Cameron DP; Hannan KM; Nguyen NN; Fong CY; Sornkom J; Wall M; Pavy M; Cullinane C; Diesch J; Devlin JR; George AJ; Sanij E; Quin J; Poortinga G; Verbrugge I; Baker A; Drygin D; Harrison SJ; Rozario JD; Powell JA; Pitson SM; Zuber J; Johnstone RW; Dawson MA; Guthridge MA; Wei A; McArthur GA; Pearson RB; Hannan RD
[Ad] Endereço:Australian Cancer Research Foundation Department of Cancer Biology and Therapeutics, The John Curtin School of Medical Research, The Australian National University, Canberra, ACT, Australia.
[Ti] Título:Inhibition of Pol I transcription treats murine and human AML by targeting the leukemia-initiating cell population.
[So] Source:Blood;129(21):2882-2895, 2017 May 25.
[Is] ISSN:1528-0020
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Despite the development of novel drugs, the prospects for many patients with acute myeloid leukemia (AML) remain dismal. This study reveals that the selective inhibitor of RNA polymerase I (Pol I) transcription, CX-5461, effectively treats aggressive AML, including mixed-lineage leukemia-driven AML, and outperforms standard chemotherapies. In addition to the previously characterized mechanism of action of CX-5461 (ie, the induction of p53-dependent apoptotic cell death), the inhibition of Pol I transcription also demonstrates potent efficacy in p53null AML in vivo. This significant survival advantage in both p53WT and p53null leukemic mice treated with CX-5461 is associated with activation of the checkpoint kinases 1/2, an aberrant G2/M cell-cycle progression and induction of myeloid differentiation of the leukemic blasts. The ability to target the leukemic-initiating cell population is thought to be essential for lasting therapeutic benefit. Most strikingly, the acute inhibition of Pol I transcription reduces both the leukemic granulocyte-macrophage progenitor and leukemia-initiating cell (LIC) populations, and suppresses their clonogenic capacity. This suggests that dysregulated Pol I transcription is essential for the maintenance of their leukemia-initiating potential. Together, these findings demonstrate the therapeutic utility of this new class of inhibitors to treat highly aggressive AML by targeting LICs.
[Mh] Termos MeSH primário: Benzotiazóis/farmacologia
Leucemia Mieloide Aguda/tratamento farmacológico
Naftiridinas/farmacologia
Células-Tronco Neoplásicas/enzimologia
Proteínas Pol1 do Complexo de Iniciação de Transcrição/antagonistas & inibidores
Transcrição Genética/efeitos dos fármacos
[Mh] Termos MeSH secundário: Animais
Divisão Celular/efeitos dos fármacos
Divisão Celular/genética
Linhagem Celular Tumoral
Quinase do Ponto de Checagem 1/genética
Quinase do Ponto de Checagem 1/metabolismo
Quinase do Ponto de Checagem 2/genética
Quinase do Ponto de Checagem 2/metabolismo
Fase G2/efeitos dos fármacos
Fase G2/genética
Seres Humanos
Leucemia Mieloide Aguda/epidemiologia
Leucemia Mieloide Aguda/genética
Leucemia Mieloide Aguda/patologia
Camundongos
Camundongos Endogâmicos NOD
Camundongos Mutantes
Células-Tronco Neoplásicas/patologia
Proteínas Pol1 do Complexo de Iniciação de Transcrição/genética
Proteínas Pol1 do Complexo de Iniciação de Transcrição/metabolismo
Proteína Supressora de Tumor p53/genética
Proteína Supressora de Tumor p53/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Benzothiazoles); 0 (CX 5461); 0 (Naphthyridines); 0 (Pol1 Transcription Initiation Complex Proteins); 0 (TP53 protein, human); 0 (Tumor Suppressor Protein p53); EC 2.7.1.11 (Checkpoint Kinase 2); EC 2.7.11.1 (CHEK1 protein, human); EC 2.7.11.1 (CHEK2 protein, human); EC 2.7.11.1 (Checkpoint Kinase 1); EC 2.7.11.1 (Chek1 protein, mouse); EC 2.7.11.1 (Chek2 protein, mouse)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170906
[Lr] Data última revisão:
170906
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170312
[St] Status:MEDLINE
[do] DOI:10.1182/blood-2016-05-718171


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[PMID]:28194553
[Au] Autor:Wu M; Wei W; Chen J; Cong R; Shi T; Bouvet P; Li J; Wong J; Du JX
[Ad] Endereço:Shanghai Key Laboratory of Regulatory Biology, the Institute of Biomedical Sciences and School of Life Sciences, East China Normal University, Shanghai, 200241, China.
[Ti] Título:Acidic domains differentially read histone H3 lysine 4 methylation status and are widely present in chromatin-associated proteins.
[So] Source:Sci China Life Sci;60(2):138-151, 2017 02.
[Is] ISSN:1869-1889
[Cp] País de publicação:China
[La] Idioma:eng
[Ab] Resumo:Histone methylation is believed to provide binding sites for specific reader proteins, which translate histone code into biological function. Here we show that a family of acidic domain-containing proteins including nucleophosmin (NPM1), pp32, SET/TAF1ß, nucleolin (NCL) and upstream binding factor (UBF) are novel H3K4me2-binding proteins. These proteins exhibit a unique pattern of interaction with methylated H3K4, as their binding is stimulated by H3K4me2 and inhibited by H3K4me1 and H3K4me3. These proteins contain one or more acidic domains consisting mainly of aspartic and/or glutamic residues that are necessary for preferential binding of H3K4me2. Furthermore, we demonstrate that the acidic domain with sufficient length alone is capable of binding H3K4me2 in vitro and in vivo. NPM1, NCL and UBF require their acidic domains for association with and transcriptional activation of rDNA genes. Interestingly, by defining acidic domain as a sequence with at least 20 acidic residues in 50 continuous amino acids, we identified 655 acidic domain-containing protein coding genes in the human genome and Gene Ontology (GO) analysis showed that many of the acidic domain proteins have chromatin-related functions. Our data suggest that acidic domain is a novel histone binding motif that can differentially read the status of H3K4 methylation and is broadly present in chromatin-associated proteins.
[Mh] Termos MeSH primário: Cromatina/metabolismo
Histonas/metabolismo
Lisina/metabolismo
[Mh] Termos MeSH secundário: Sequência de Aminoácidos
Sítios de Ligação
Células HEK293
Células HeLa
Chaperonas de Histonas/metabolismo
Seres Humanos
Peptídeos e Proteínas de Sinalização Intracelular/metabolismo
Metilação
Proteínas Nucleares/metabolismo
Fosfoproteínas/metabolismo
Proteínas Pol1 do Complexo de Iniciação de Transcrição/metabolismo
Ligação Proteica
Domínios Proteicos
Proteínas de Ligação a RNA/metabolismo
Fatores de Transcrição/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ANP32A protein, human); 0 (Chromatin); 0 (Histone Chaperones); 0 (Histones); 0 (Intracellular Signaling Peptides and Proteins); 0 (Nuclear Proteins); 0 (Phosphoproteins); 0 (Pol1 Transcription Initiation Complex Proteins); 0 (RNA-Binding Proteins); 0 (SET protein, human); 0 (Transcription Factors); 0 (nucleolin); 0 (transcription factor UBF); 117896-08-9 (nucleophosmin); K3Z4F929H6 (Lysine)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170828
[Lr] Data última revisão:
170828
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170215
[St] Status:MEDLINE
[do] DOI:10.1007/s11427-016-0413-3


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[PMID]:28162975
[Au] Autor:Fishbein L; Leshchiner I; Walter V; Danilova L; Robertson AG; Johnson AR; Lichtenberg TM; Murray BA; Ghayee HK; Else T; Ling S; Jefferys SR; de Cubas AA; Wenz B; Korpershoek E; Amelio AL; Makowski L; Rathmell WK; Gimenez-Roqueplo AP; Giordano TJ; Asa SL; Tischler AS; Pacak K; Nathanson KL; Wilkerson MD; Cancer Genome Atlas Research Network
[Ad] Endereço:Division of Endocrinology, Diabetes and Metabolism, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.
[Ti] Título:Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma.
[So] Source:Cancer Cell;31(2):181-193, 2017 Feb 13.
[Is] ISSN:1878-3686
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:We report a comprehensive molecular characterization of pheochromocytomas and paragangliomas (PCCs/PGLs), a rare tumor type. Multi-platform integration revealed that PCCs/PGLs are driven by diverse alterations affecting multiple genes and pathways. Pathogenic germline mutations occurred in eight PCC/PGL susceptibility genes. We identified CSDE1 as a somatically mutated driver gene, complementing four known drivers (HRAS, RET, EPAS1, and NF1). We also discovered fusion genes in PCCs/PGLs, involving MAML3, BRAF, NGFR, and NF1. Integrated analysis classified PCCs/PGLs into four molecularly defined groups: a kinase signaling subtype, a pseudohypoxia subtype, a Wnt-altered subtype, driven by MAML3 and CSDE1, and a cortical admixture subtype. Correlates of metastatic PCCs/PGLs included the MAML3 fusion gene. This integrated molecular characterization provides a comprehensive foundation for developing PCC/PGL precision medicine.
[Mh] Termos MeSH primário: Paraganglioma/genética
Feocromocitoma/genética
[Mh] Termos MeSH secundário: Adulto
Idoso
Idoso de 80 Anos ou mais
Proteínas de Ligação a DNA/genética
Feminino
Fusão Gênica
Seres Humanos
Masculino
Meia-Idade
Mutação
Proteínas Nucleares/genética
Paraganglioma/etiologia
Feocromocitoma/etiologia
Proteínas Pol1 do Complexo de Iniciação de Transcrição/genética
Proteínas Proto-Oncogênicas c-ret/genética
Proteínas de Ligação a RNA/genética
Fatores de Transcrição/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CSDE1 protein, human); 0 (DNA-Binding Proteins); 0 (MAML3 protein, human); 0 (Nuclear Proteins); 0 (Pol1 Transcription Initiation Complex Proteins); 0 (RNA-Binding Proteins); 0 (Transcription Factors); 0 (transcription factor UBF); EC 2.7.10.1 (Proto-Oncogene Proteins c-ret); EC 2.7.10.1 (RET protein, human)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:171018
[Lr] Data última revisão:
171018
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170207
[St] Status:MEDLINE


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[PMID]:28060464
[Au] Autor:Montes M; Moreira-Ramos S; Rojas DA; Urbina F; Käufer NF; Maldonado E
[Ad] Endereço:Programa Biología Celular y Molecular, Facultad de Medicina, Instituto de Ciencias Biomédicas, Universidad de Chile, Santiago, Chile.
[Ti] Título:RNA polymerase II components and Rrn7 form a preinitiation complex on the HomolD box to promote ribosomal protein gene expression in Schizosaccharomyces pombe.
[So] Source:FEBS J;284(4):615-633, 2017 Feb.
[Is] ISSN:1742-4658
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:In Schizosaccharomyces pombe, ribosomal protein gene (RPG) promoters contain a TATA box analog, the HomolD box, which is bound by the Rrn7 protein. Despite the importance of ribosome biogenesis for cell survival, the mechanisms underlying RPG transcription remain unknown. In this study, we found that components of the RNA polymerase II (RNAPII) system, consisting of the initiation or general transcription factors (GTFs) TFIIA, IIB, IIE, TATA-binding protein (TBP) and the RNAPII holoenzyme, interacted directly with Rrn7 in vitro, and were able to form a preinitiation complex (PIC) on the HomolD box. PIC complex formation follows an ordered pathway on these promoters. The GTFs and RNAPII can also be cross-linked to HomolD-containing promoters in vivo. In an in vitro reconstituted transcription system, RNAPII components and Rrn7 were necessary for HomolD-directed transcription. The Mediator complex was required for basal transcription from those promoters in whole cell extract (WCE). The Med17 subunit of Mediator also can be cross-linked to the promoter region of HomolD-containing promoters in vivo, suggesting the presence of the Mediator complex on HomolD box-containing promoters. Together, these data show that components of the RNAPII machinery and Rrn7 participate in the PIC assembly on the HomolD box, thereby directing RPG transcription.
[Mh] Termos MeSH primário: Proteínas Fúngicas/genética
Regulação Fúngica da Expressão Gênica
Proteínas Pol1 do Complexo de Iniciação de Transcrição/genética
Proteínas Ribossômicas/genética
Schizosaccharomyces/genética
TATA Box
[Mh] Termos MeSH secundário: Sítios de Ligação
Clonagem Molecular
Escherichia coli/genética
Escherichia coli/metabolismo
Proteínas Fúngicas/metabolismo
Expressão Gênica
Complexo Mediador/genética
Complexo Mediador/metabolismo
Proteínas Pol1 do Complexo de Iniciação de Transcrição/metabolismo
Regiões Promotoras Genéticas
Ligação Proteica
RNA Polimerase II/genética
RNA Polimerase II/metabolismo
Proteínas Recombinantes/genética
Proteínas Recombinantes/metabolismo
Proteínas Ribossômicas/metabolismo
Schizosaccharomyces/metabolismo
Proteína de Ligação a TATA-Box/genética
Proteína de Ligação a TATA-Box/metabolismo
Fator de Transcrição TFIIA/genética
Fator de Transcrição TFIIA/metabolismo
Fator de Transcrição TFIIB/genética
Fator de Transcrição TFIIB/metabolismo
Fatores de Transcrição TFII/genética
Fatores de Transcrição TFII/metabolismo
Transcrição Genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Fungal Proteins); 0 (Mediator Complex); 0 (Pol1 Transcription Initiation Complex Proteins); 0 (Recombinant Proteins); 0 (Ribosomal Proteins); 0 (TATA-Box Binding Protein); 0 (Transcription Factor TFIIA); 0 (Transcription Factor TFIIB); 0 (Transcription Factors, TFII); 0 (transcription factor TFIIE); EC 2.7.7.- (RNA Polymerase II)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170622
[Lr] Data última revisão:
170622
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170107
[St] Status:MEDLINE
[do] DOI:10.1111/febs.14006


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[PMID]:27924000
[Au] Autor:Xie Q; Li C; Song X; Wu L; Jiang Q; Qiu Z; Cao H; Yu K; Wan C; Li J; Yang F; Huang Z; Niu B; Jiang Z; Zhang T
[Ad] Endereço:Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics-Peking University Teaching Hospital, Beijing 100020, China.
[Ti] Título:Folate deficiency facilitates recruitment of upstream binding factor to hot spots of DNA double-strand breaks of rRNA genes and promotes its transcription.
[So] Source:Nucleic Acids Res;45(5):2472-2489, 2017 Mar 17.
[Is] ISSN:1362-4962
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:The biogenesis of ribosomes in vivo is an essential process for cellular functions. Transcription of ribosomal RNA (rRNA) genes is the rate-limiting step in ribosome biogenesis controlled by environmental conditions. Here, we investigated the role of folate antagonist on changes of DNA double-strand breaks (DSBs) landscape in mouse embryonic stem cells. A significant DSB enhancement was detected in the genome of these cells and a large majority of these DSBs were found in rRNA genes. Furthermore, spontaneous DSBs in cells under folate deficiency conditions were located exclusively within the rRNA gene units, representing a H3K4me1 hallmark. Enrichment H3K4me1 at the hot spots of DSB regions enhanced the recruitment of upstream binding factor (UBF) to rRNA genes, resulting in the increment of rRNA genes transcription. Supplement of folate resulted in a restored UBF binding across DNA breakage sites of rRNA genes, and normal rRNA gene transcription. In samples from neural tube defects (NTDs) with low folate level, up-regulation of rRNA gene transcription was observed, along with aberrant UBF level. Our results present a new view by which alterations in folate levels affects DNA breakage through epigenetic control leading to the regulation of rRNA gene transcription during the early stage of development.
[Mh] Termos MeSH primário: Quebras de DNA de Cadeia Dupla
Deficiência de Ácido Fólico/genética
Regulação da Expressão Gênica no Desenvolvimento
Genes de RNAr
Proteínas Pol1 do Complexo de Iniciação de Transcrição/metabolismo
Transcrição Genética
[Mh] Termos MeSH secundário: Animais
Células Cultivadas
Células-Tronco Embrionárias/metabolismo
Feto/metabolismo
Antagonistas do Ácido Fólico/toxicidade
Deficiência de Ácido Fólico/metabolismo
Fase G1/genética
Histonas/metabolismo
Leucovorina/farmacologia
Metotrexato/toxicidade
Camundongos
Defeitos do Tubo Neural/genética
Defeitos do Tubo Neural/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Folic Acid Antagonists); 0 (Histones); 0 (Pol1 Transcription Initiation Complex Proteins); 0 (transcription factor UBF); Q573I9DVLP (Leucovorin); YL5FZ2Y5U1 (Methotrexate)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170808
[Lr] Data última revisão:
170808
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161208
[St] Status:MEDLINE
[do] DOI:10.1093/nar/gkw1208


  10 / 452 MEDLINE  
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[PMID]:27878435
[Au] Autor:Patel N; Anand D; Monies D; Maddirevula S; Khan AO; Algoufi T; Alowain M; Faqeih E; Alshammari M; Qudair A; Alsharif H; Aljubran F; Alsaif HS; Ibrahim N; Abdulwahab FM; Hashem M; Alsedairy H; Aldahmesh MA; Lachke SA; Alkuraya FS
[Ad] Endereço:Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
[Ti] Título:Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.
[So] Source:Hum Genet;136(2):205-225, 2017 Feb.
[Is] ISSN:1432-1203
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:Pediatric cataract is highly heterogeneous clinically and etiologically. While mostly isolated, cataract can be part of many multisystem disorders, further complicating the diagnostic process. In this study, we applied genomic tools in the form of a multi-gene panel as well as whole-exome sequencing on unselected cohort of pediatric cataract (166 patients from 74 families). Mutations in previously reported cataract genes were identified in 58% for a total of 43 mutations, including 15 that are novel. GEMIN4 was independently mutated in families with a syndrome of cataract, global developmental delay with or without renal involvement. We also highlight a recognizable syndrome that resembles galactosemia (a fulminant infantile liver disease with cataract) caused by biallelic mutations in CYP51A1. A founder mutation in RIC1 (KIAA1432) was identified in patients with cataract, brain atrophy, microcephaly with or without cleft lip and palate. For non-syndromic pediatric cataract, we map a novel locus in a multiplex consanguineous family on 4p15.32 where exome sequencing revealed a homozygous truncating mutation in TAPT1. We report two further candidates that are biallelically inactivated each in a single cataract family: TAF1A (cataract with global developmental delay) and WDR87 (non-syndromic cataract). In addition to positional mapping data, we use iSyTE developmental lens expression and gene-network analysis to corroborate the proposed link between the novel candidate genes and cataract. Our study expands the phenotypic, allelic and locus heterogeneity of pediatric cataract. The high diagnostic yield of clinical genomics supports the adoption of this approach in this patient group.
[Mh] Termos MeSH primário: Catarata/diagnóstico
Catarata/genética
Loci Gênicos
[Mh] Termos MeSH secundário: Alelos
Animais
Proteínas de Transporte/genética
Criança
Mapeamento Cromossômico
Fenda Labial/genética
Regulação da Expressão Gênica
Genômica
Homozigoto
Seres Humanos
Proteínas de Membrana/genética
Camundongos
Camundongos Knockout
Microcefalia/genética
Fenótipo
Proteínas Pol1 do Complexo de Iniciação de Transcrição/genética
Mapeamento de Interação de Proteínas
Análise de Sequência de DNA
Esterol 14-Desmetilase/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Carrier Proteins); 0 (KIAA1432 protein, human); 0 (Membrane Proteins); 0 (Pol1 Transcription Initiation Complex Proteins); 0 (TAF1A protein, human); 0 (TAPT1 protein, mouse); 0 (Taf1a protein, mouse); EC 1.14.13.70 (CYP51A1 protein, human); EC 1.14.13.70 (Sterol 14-Demethylase)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:171010
[Lr] Data última revisão:
171010
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161124
[St] Status:MEDLINE
[do] DOI:10.1007/s00439-016-1747-6



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