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  1 / 15922 MEDLINE  
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[PMID]:28461121
[Au] Autor:Hall JPJ; Brockhurst MA; Dytham C; Harrison E
[Ad] Endereço:Department of Animal and Plant Sciences, University of Sheffield, Sheffield S10 2TN, UK.
[Ti] Título:The evolution of plasmid stability: Are infectious transmission and compensatory evolution competing evolutionary trajectories?
[So] Source:Plasmid;91:90-95, 2017 May.
[Is] ISSN:1095-9890
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Conjugative plasmids are widespread and play an important role in bacterial evolution by accelerating adaptation through horizontal gene transfer. However, explaining the long-term stability of plasmids remains challenging because segregational loss and the costs of plasmid carriage should drive the loss of plasmids though purifying selection. Theoretical and experimental studies suggest two key evolutionary routes to plasmid stability: First, the evolution of high conjugation rates would allow plasmids to survive through horizontal transmission as infectious agents, and second, compensatory evolution to ameliorate the cost of plasmid carriage can weaken purifying selection against plasmids. How these two evolutionary strategies for plasmid stability interact is unclear. Here, we summarise the literature on the evolution of plasmid stability and then use individual based modelling to investigate the evolutionary interplay between the evolution of plasmid conjugation rate and cost amelioration. We find that, individually, both strategies promote plasmid stability, and that they act together to increase the likelihood of plasmid survival. However, due to the inherent costs of increasing conjugation rate, particularly where conjugation is unlikely to be successful, our model predicts that amelioration is the more likely long-term solution to evolving stable bacteria-plasmid associations. Our model therefore suggests that bacteria-plasmid relationships should evolve towards lower plasmid costs that may forestall the evolution of highly conjugative, 'infectious' plasmids.
[Mh] Termos MeSH primário: Bactérias/genética
Conjugação Genética
Regulação Bacteriana da Expressão Gênica
Transferência Genética Horizontal
Modelos Estatísticos
Plasmídeos/química
[Mh] Termos MeSH secundário: Bactérias/metabolismo
Evolução Biológica
Cromossomos Bacterianos/química
Cromossomos Bacterianos/metabolismo
Aptidão Genética
Loci Gênicos
Mutagênese Insercional
Plasmídeos/metabolismo
Seleção Genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180309
[Lr] Data última revisão:
180309
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170503
[St] Status:MEDLINE


  2 / 15922 MEDLINE  
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[PMID]:28461449
[Au] Autor:Stubbendieck RM; Straight PD
[Ad] Endereço:Interdisciplinary Program in Genetics, Texas A&M University, College Station, Texas, USA.
[Ti] Título:Linearmycins Activate a Two-Component Signaling System Involved in Bacterial Competition and Biofilm Morphology.
[So] Source:J Bacteriol;199(18), 2017 09 15.
[Is] ISSN:1098-5530
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Bacteria use two-component signaling systems to adapt and respond to their competitors and changing environments. For instance, competitor bacteria may produce antibiotics and other bioactive metabolites and sequester nutrients. To survive, some species of bacteria escape competition through antibiotic production, biofilm formation, or motility. Specialized metabolite production and biofilm formation are relatively well understood for bacterial species in isolation. How bacteria control these functions when competitors are present is not well studied. To address fundamental questions relating to the competitive mechanisms of different species, we have developed a model system using two species of soil bacteria, and sp. strain Mg1. Using this model, we previously found that linearmycins produced by sp. strain Mg1 cause lysis of cells and degradation of colony matrix. We identified strains of with mutations in the two-component signaling system operon that confer dual phenotypes of specific linearmycin resistance and biofilm morphology. We determined that expression of the ATP-binding cassette (ABC) transporter operon, particularly and , is necessary for biofilm morphology. Using transposon mutagenesis, we identified genes that are required for YfiLMN-mediated biofilm morphology, including several chaperones. Using transcriptional fusions, we found that YfiJ signaling is activated by linearmycins and other polyene metabolites. Finally, using a truncated YfiJ, we show that YfiJ requires its transmembrane domain to activate downstream signaling. Taken together, these results suggest coordinated dual antibiotic resistance and biofilm morphology by a single multifunctional ABC transporter promotes competitive fitness of DNA sequencing approaches have revealed hitherto unexplored diversity of bacterial species in a wide variety of environments that includes the gastrointestinal tract of animals and the rhizosphere of plants. Interactions between different species in bacterial communities have impacts on our health and industry. However, many approaches currently used to study whole bacterial communities do not resolve mechanistic details of interspecies interactions, including how bacteria sense and respond to their competitors. Using a competition model, we have uncovered dual functions for a previously uncharacterized two-component signaling system involved in specific antibiotic resistance and biofilm morphology. Insights gleaned from signaling within interspecies interaction models build a more complete understanding of gene functions important for bacterial communities and will enhance community-level analytical approaches.
[Mh] Termos MeSH primário: Antibacterianos/metabolismo
Antibiose
Bacillus subtilis/fisiologia
Biofilmes/crescimento & desenvolvimento
Viabilidade Microbiana
Streptomyces/fisiologia
[Mh] Termos MeSH secundário: Transportadores de Cassetes de Ligação de ATP/metabolismo
Fusão Gênica Artificial
Bacillus subtilis/efeitos dos fármacos
Elementos de DNA Transponíveis
Perfilação da Expressão Gênica
Regulação Bacteriana da Expressão Gênica
Mutagênese Insercional
Mutação
Transdução de Sinais
Streptomyces/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, U.S. GOV'T, NON-P.H.S.
[Nm] Nome de substância:
0 (ATP-Binding Cassette Transporters); 0 (Anti-Bacterial Agents); 0 (DNA Transposable Elements)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:180306
[Lr] Data última revisão:
180306
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170503
[St] Status:MEDLINE


  3 / 15922 MEDLINE  
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[PMID]:28461445
[Au] Autor:Yamamoto S; Ohnishi M
[Ad] Endereço:Department of Bacteriology I, National Institute of Infectious Diseases, Tokyo, Japan yshouji@nih.go.jp.
[Ti] Título:Glucose-Specific Enzyme IIA of the Phosphoenolpyruvate:Carbohydrate Phosphotransferase System Modulates Chitin Signaling Pathways in Vibrio cholerae.
[So] Source:J Bacteriol;199(18), 2017 09 15.
[Is] ISSN:1098-5530
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:In , the genes required for chitin utilization and natural competence are governed by the chitin-responsive two-component system (TCS) sensor kinase ChiS. In the classical TCS paradigm, a sensor kinase specifically phosphorylates a cognate response regulator to activate gene expression. However, our previous genetic study suggested that ChiS stimulates the non-TCS transcriptional regulator TfoS by using mechanisms distinct from classical phosphorylation reactions (S. Yamamoto, J. Mitobe, T. Ishikawa, S. N. Wai, M. Ohnishi, H. Watanabe, and H. Izumiya, Mol Microbiol 91:326-347, 2014, https://doi.org/10.1111/mmi.12462). TfoS specifically activates the transcription of , encoding a small regulatory RNA essential for competence gene expression. Whether ChiS and TfoS interact directly remains unknown. To determine if other factors mediate the communication between ChiS and TfoS, we isolated transposon mutants that turned off :: expression but possessed intact and genes. We demonstrated an unexpected association of chitin-induced signaling pathways with the glucose-specific enzyme IIA (EIIA ) of the phosphoenolpyruvate:carbohydrate phosphotransferase system (PTS) for carbohydrate uptake and catabolite control of gene expression. Genetic and physiological analyses revealed that dephosphorylated EIIA inactivated natural competence and transcription. Chitin-induced expression of the operon, which is required for chitin transport and catabolism, was also repressed by dephosphorylated EIIA Furthermore, the regulation of and expression by EIIA was dependent on ChiS and intracellular levels of ChiS were not affected by disruption of the gene encoding EIIA These results define a previously unknown connection between the PTS and chitin signaling pathways in and suggest a strategy whereby this bacterium can physiologically adapt to the existing nutrient status. The EIIA protein of the PTS coordinates a wide variety of physiological functions with carbon availability. In this report, we describe an unexpected association of chitin-activated signaling pathways in with EIIA The signaling pathways are governed by the chitin-responsive TCS sensor kinase ChiS and lead to the induction of chitin utilization and natural competence. We show that dephosphorylated EIIA inhibits both signaling pathways in a ChiS-dependent manner. This inhibition is different from classical catabolite repression that is caused by lowered levels of cyclic AMP. This work represents a newly identified connection between the PTS and chitin signaling pathways in and suggests a strategy whereby this bacterium can physiologically adapt to the existing nutrient status.
[Mh] Termos MeSH primário: Quitina/metabolismo
Regulação Bacteriana da Expressão Gênica
Sistema Fosfotransferase de Açúcar do Fosfoenolpiruvato/metabolismo
Transdução de Sinais
Vibrio cholerae/genética
Vibrio cholerae/metabolismo
[Mh] Termos MeSH secundário: Elementos de DNA Transponíveis
Redes Reguladoras de Genes
Mutagênese Insercional
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (DNA Transposable Elements); 1398-61-4 (Chitin); EC 2.7.1.- (Phosphoenolpyruvate Sugar Phosphotransferase System)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:180306
[Lr] Data última revisão:
180306
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170503
[St] Status:MEDLINE


  4 / 15922 MEDLINE  
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[PMID]:29281637
[Au] Autor:Boot M; van Winden VJC; Sparrius M; van de Weerd R; Speer A; Ummels R; Rustad T; Sherman DR; Bitter W
[Ad] Endereço:Department of Medical Microbiology and Infection Control, VU University Medical Center, Amsterdam, the Netherlands.
[Ti] Título:Cell envelope stress in mycobacteria is regulated by the novel signal transduction ATPase IniR in response to trehalose.
[So] Source:PLoS Genet;13(12):e1007131, 2017 12.
[Is] ISSN:1553-7404
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The cell envelope of mycobacteria is a highly unique and complex structure that is functionally equivalent to that of Gram-negative bacteria to protect the bacterial cell. Defects in the integrity or assembly of this cell envelope must be sensed to allow the induction of stress response systems. The promoter that is specifically and most strongly induced upon exposure to ethambutol and isoniazid, first line drugs that affect cell envelope biogenesis, is the iniBAC promoter. In this study, we set out to identify the regulator of the iniBAC operon in Mycobacterium marinum using an unbiased transposon mutagenesis screen in a constitutively iniBAC-expressing mutant background. We obtained multiple mutants in the mce1 locus as well as mutants in an uncharacterized putative transcriptional regulator (MMAR_0612). This latter gene was shown to function as the iniBAC regulator, as overexpression resulted in constitutive iniBAC induction, whereas a knockout mutant was unable to respond to the presence of ethambutol and isoniazid. Experiments with the M. tuberculosis homologue (Rv0339c) showed identical results. RNAseq experiments showed that this regulatory gene was exclusively involved in the regulation of the iniBAC operon. We therefore propose to name this dedicated regulator iniBAC Regulator (IniR). IniR belongs to the family of signal transduction ATPases with numerous domains, including a putative sugar-binding domain. Upon testing different sugars, we identified trehalose as an activator and metabolic cue for iniBAC activation, which could also explain the effect of the mce1 mutations. In conclusion, cell envelope stress in mycobacteria is regulated by IniR in a cascade that includes trehalose.
[Mh] Termos MeSH primário: Adenosina Trifosfatases/genética
Mycobacterium marinum/genética
Mycobacterium marinum/metabolismo
Trealose/metabolismo
[Mh] Termos MeSH secundário: Proteínas de Bactérias/genética
Membrana Celular/metabolismo
Parede Celular/genética
Parede Celular/metabolismo
Elementos de DNA Transponíveis
Regulação Bacteriana da Expressão Gênica
Genes Bacterianos
Mutagênese Insercional
Óperon
Regiões Promotoras Genéticas
Transdução de Sinais
Transcrição Genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Bacterial Proteins); 0 (DNA Transposable Elements); B8WCK70T7I (Trehalose); EC 3.6.1.- (Adenosine Triphosphatases)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180227
[Lr] Data última revisão:
180227
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171228
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pgen.1007131


  5 / 15922 MEDLINE  
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[PMID]:29258113
[Au] Autor:Silipigni R; Monfrini E; Baccarin M; Giangiobbe S; Lalatta F; Guerneri S; Bedeschi MF
[Ad] Endereço:Laboratory of Medical Genetics, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
[Ti] Título:Familial Duplication/Deletion of 1q42.13q43 as Meiotic Consequence of an Intrachromosomal Insertion in Chromosome 1.
[So] Source:Cytogenet Genome Res;153(2):73-80, 2017.
[Is] ISSN:1424-859X
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:Rearrangements of the region 1q42.13q43 are rare, with only 7 cases reported to date. The imbalances described are usually the result of inherited translocations with other chromosomes. Moreover, few cases of both inter- and intrachromosomal deletions/duplications detected cytogenetically have been described. We report the molecular cytogenetic characterization of an inverted insertion involving the region 1q42.13q43 and segregating in 2 generations of a family. The deletion and the duplication of the same segment were detected in 2 affected family members. SNP array analysis showed the familial origin of the deletion/duplication due to the occurrence of a crossing-over during meiosis. Our report underlines the importance of determining the correct origin of chromosomal aberrations using different molecular cytogenetic tests in order to provide a good estimation of the reproductive risk for the members of the family.
[Mh] Termos MeSH primário: Anormalidades Múltiplas/genética
Cromossomos Humanos Par 1/genética
Troca Genética
Genes Duplicados
Meiose
Mutagênese Insercional
Deleção de Sequência
[Mh] Termos MeSH secundário: Adulto
Criança
Cromossomos Humanos Par 1/ultraestrutura
Hibridização Genômica Comparativa
Face/anormalidades
Feminino
Aconselhamento Genético
Seres Humanos
Recém-Nascido
Deficiência Intelectual/genética
Masculino
Miringoesclerose/genética
Linhagem
Fenótipo
Polimorfismo de Nucleotídeo Único
Quadriplegia/genética
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180220
[Lr] Data última revisão:
180220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171220
[St] Status:MEDLINE
[do] DOI:10.1159/000485226


  6 / 15922 MEDLINE  
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[PMID]:28464897
[Au] Autor:Arzt J; Pacheco JM; Stenfeldt C; Rodriguez LL
[Ad] Endereço:Foreign Animal Disease Research Unit, Plum Island Animal Disease Center, Agricultural Research Service, United States Department of Agriculture, Greenport, NY, USA. Jonathan.Arzt@ars.usda.gov.
[Ti] Título:Pathogenesis of virulent and attenuated foot-and-mouth disease virus in cattle.
[So] Source:Virol J;14(1):89, 2017 05 02.
[Is] ISSN:1743-422X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Understanding the mechanisms of attenuation and virulence of foot-and-mouth disease virus (FMDV) in the natural host species is critical for development of next-generation countermeasures such as live-attenuated vaccines. Functional genomics analyses of FMDV have identified few virulence factors of which the leader proteinase (L ) is the most thoroughly investigated. Previous work from our laboratory has characterized host factors in cattle inoculated with virulent FMDV and attenuated mutant strains with transposon insertions within L . METHODS: In the current study, the characteristics defining virulence of FMDV in cattle were further investigated by comparing the pathogenesis of a mutant, attenuated strain (FMDV-Mut) to the parental, virulent virus from which the mutant was derived (FMDV-WT). The only difference between the two viruses was an insertion mutation in the inter-AUG region of the leader proteinase of FMDV-Mut. All cattle were infected by simulated-natural, aerosol inoculation. RESULTS: Both viruses were demonstrated to establish primary infection in the nasopharyngeal mucosa with subsequent dissemination to the lungs. Immunomicroscopic localization of FMDV antigens indicated that both viruses infected superficial epithelial cells of the nasopharynx and lungs. The critical differences between the two viruses were a more rapid establishment of infection by FMDV-WT and quantitatively greater virus loads in secretions and infected tissues compared to FMDV-Mut. The slower replicating FMDV-Mut established a subclinical infection that was limited to respiratory epithelial sites, whereas the faster replication of FMDV-WT facilitated establishment of viremia, systemic dissemination of infection, and clinical disease. CONCLUSION: The mutant FMDV was capable of achieving all the same early pathogenesis landmarks as FMDV-WT, but was unable to establish systemic infection. The precise mechanism of attenuation remains undetermined; but current data suggests that the impaired replication of the mutant is more responsible for attenuation than differences in host immunological factors. These results complement previous studies by providing data of high-granularity describing tissue-specific tropism of FMDV and by demonstrating microscopic localization of virulent and attenuated clones of the same field-strain FMDV.
[Mh] Termos MeSH primário: Doenças dos Bovinos/virologia
Vírus da Febre Aftosa/patogenicidade
Febre Aftosa/virologia
Virulência
[Mh] Termos MeSH secundário: Aerossóis
Animais
Bovinos
Células Epiteliais/patologia
Células Epiteliais/virologia
Febre Aftosa/imunologia
Febre Aftosa/patologia
Vírus da Febre Aftosa/genética
Vírus da Febre Aftosa/crescimento & desenvolvimento
Vírus da Febre Aftosa/isolamento & purificação
Pulmão/virologia
Mutagênese Insercional
Nasofaringe/patologia
Nasofaringe/virologia
RNA Viral/isolamento & purificação
Vacinas Atenuadas/imunologia
Proteínas Estruturais Virais
Fatores de Virulência
Replicação Viral
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, U.S. GOV'T, NON-P.H.S.
[Nm] Nome de substância:
0 (Aerosols); 0 (RNA, Viral); 0 (Vaccines, Attenuated); 0 (Viral Structural Proteins); 0 (Virulence Factors)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180213
[Lr] Data última revisão:
180213
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170504
[St] Status:MEDLINE
[do] DOI:10.1186/s12985-017-0758-9


  7 / 15922 MEDLINE  
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[PMID]:29220409
[Au] Autor:Mata CP; Luque D; Gómez-Blanco J; Rodríguez JM; González JM; Suzuki N; Ghabrial SA; Carrascosa JL; Trus BL; Castón JR
[Ad] Endereço:Department of Structure of Macromolecules, Centro Nacional de Biotecnología (CNB-CSIC), Campus Cantoblanco, Madrid, Spain.
[Ti] Título:Acquisition of functions on the outer capsid surface during evolution of double-stranded RNA fungal viruses.
[So] Source:PLoS Pathog;13(12):e1006755, 2017 Dec.
[Is] ISSN:1553-7374
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Unlike their counterparts in bacterial and higher eukaryotic hosts, most fungal viruses are transmitted intracellularly and lack an extracellular phase. Here we determined the cryo-EM structure at 3.7 Å resolution of Rosellinia necatrix quadrivirus 1 (RnQV1), a fungal double-stranded (ds)RNA virus. RnQV1, the type species of the family Quadriviridae, has a multipartite genome consisting of four monocistronic segments. Whereas most dsRNA virus capsids are based on dimers of a single protein, the ~450-Å-diameter, T = 1 RnQV1 capsid is built of P2 and P4 protein heterodimers, each with more than 1000 residues. Despite a lack of sequence similarity between the two proteins, they have a similar α-helical domain, the structural signature shared with the lineage of the dsRNA bluetongue virus-like viruses. Domain insertions in P2 and P4 preferential sites provide additional functions at the capsid outer surface, probably related to enzyme activity. The P2 insertion has a fold similar to that of gelsolin and profilin, two actin-binding proteins with a function in cytoskeleton metabolism, whereas the P4 insertion suggests protease activity involved in cleavage of the P2 383-residue C-terminal region, absent in the mature viral particle. Our results indicate that the intimate virus-fungus partnership has altered the capsid genome-protective and/or receptor-binding functions. Fungal virus evolution has tended to allocate enzyme activities to the virus capsid outer surface.
[Mh] Termos MeSH primário: Proteínas do Capsídeo/metabolismo
Capsídeo/metabolismo
Modelos Moleculares
Vírus de RNA/metabolismo
[Mh] Termos MeSH secundário: Sequência de Aminoácidos
Capsídeo/enzimologia
Capsídeo/ultraestrutura
Proteínas do Capsídeo/química
Proteínas do Capsídeo/genética
Sequência Conservada
Microscopia Crioeletrônica
Evolução Molecular
Imagem Tridimensional
Mutagênese Insercional
Conformação Proteica em alfa-Hélice
Conformação Proteica em Folha beta
Domínios e Motivos de Interação entre Proteínas
Multimerização Proteica
Estabilidade Proteica
Vírus de RNA/enzimologia
Vírus de RNA/genética
Vírus de RNA/ultraestrutura
Alinhamento de Sequência
Homologia Estrutural de Proteína
Propriedades de Superfície
Vírion/enzimologia
Vírion/genética
Vírion/metabolismo
Vírion/ultraestrutura
Xylariales/virologia
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Capsid Proteins)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180109
[Lr] Data última revisão:
180109
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171209
[St] Status:MEDLINE
[do] DOI:10.1371/journal.ppat.1006755


  8 / 15922 MEDLINE  
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[PMID]:29025590
[Au] Autor:Qian Y; Mancini-DiNardo D; Judkins T; Cox HC; Brown K; Elias M; Singh N; Daniels C; Holladay J; Coffee B; Bowles KR; Roa BB
[Ad] Endereço:Myriad Genetic Laboratories, Inc., 320 Wakara Way, Salt Lake City, UT 84108, USA.
[Ti] Título:Identification of pathogenic retrotransposon insertions in cancer predisposition genes.
[So] Source:Cancer Genet;216-217:159-169, 2017 Oct.
[Is] ISSN:2210-7762
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Cancer risks have been previously reported for some retrotransposon element (RE) insertions; however, detection of these insertions is technically challenging and very few oncogenic RE insertions have been reported. Here we evaluate RE insertions identified during hereditary cancer genetic testing using a comprehensive testing strategy. Individuals who had single-syndrome or pan-cancer hereditary cancer genetic testing from February 2004 to March 2017 were included. RE insertions were identified using Sanger sequencing, Next Generation Sequencing, or multiplex quantitative PCR, and further characterized using targeted PCR and sequencing analysis. Personal cancer history, ancestry, and haplotype were evaluated. A total of 37 unique RE insertions were identified in 10 genes, affecting 211 individuals. BRCA2 accounted for 45.9% (17/37) of all unique RE insertions. Several RE insertions were detected with high frequency in populations of conserved ancestry wherein up to 100% of carriers shared a high degree of haplotype conservation, suggesting founder effects. Our comprehensive testing strategy resulted in a substantial increase in the number of reported oncogenic RE insertions, several of which may have possible founder effects. Collectively, these data show that the detection of RE insertions is an important component of hereditary cancer genetic testing and may be more prevalent than previously reported.
[Mh] Termos MeSH primário: Genes Neoplásicos
Predisposição Genética para Doença
Mutagênese Insercional/genética
Neoplasias/genética
Retroelementos/genética
[Mh] Termos MeSH secundário: Elementos Alu/genética
Sequência de Bases
Efeito Fundador
Haplótipos/genética
Seres Humanos
Mutação/genética
Fatores de Risco
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Retroelements)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171030
[Lr] Data última revisão:
171030
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171014
[St] Status:MEDLINE


  9 / 15922 MEDLINE  
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[PMID]:28906493
[Au] Autor:Anzai IA; Shaket L; Adesina O; Baym M; Barstow B
[Ad] Endereço:Department of Chemistry, Princeton University, Princeton, New Jersey, USA.
[Ti] Título:Rapid curation of gene disruption collections using Knockout Sudoku.
[So] Source:Nat Protoc;12(10):2110-2137, 2017 Oct.
[Is] ISSN:1750-2799
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Knockout Sudoku is a method for the construction of whole-genome knockout collections for a wide range of microorganisms with as little as 3 weeks of dedicated labor and at a cost of ∼$10,000 for a collection for a single organism. The method uses manual 4D combinatorial pooling, next-generation sequencing, and a Bayesian inference algorithm to rapidly process and then accurately annotate the extremely large progenitor transposon insertion mutant collections needed to achieve saturating coverage of complex microbial genomes. This method is ∼100× faster and 30× lower in cost than the next comparable method (In-seq) for annotating transposon mutant collections by combinatorial pooling and next-generation sequencing. This method facilitates the rapid, algorithmically guided condensation and curation of the progenitor collection into a high-quality, nonredundant collection that is suitable for rapid genetic screening and gene discovery.
[Mh] Termos MeSH primário: Técnicas de Inativação de Genes/métodos
Biblioteca Genômica
Genômica/métodos
Sequenciamento de Nucleotídeos em Larga Escala/métodos
[Mh] Termos MeSH secundário: Algoritmos
Bactérias/genética
Teorema de Bayes
Mutagênese Insercional
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170925
[Lr] Data última revisão:
170925
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170915
[St] Status:MEDLINE
[do] DOI:10.1038/nprot.2017.073


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[PMID]:28906004
[Au] Autor:Douet-Guilbert N; Chauveau A; Gueganic N; Guillerm G; Tous C; Le Bris MJ; Basinko A; Morel F; Ugo V; De Braekeleer M
[Ad] Endereço:Faculté de Médecine et des Sciences de la Santé, Université de Brest, Brest, France.
[Ti] Título:Acute myeloid leukaemia (FAB AML-M4Eo) with cryptic insertion of cbfb resulting in cbfb-Myh11 fusion.
[So] Source:Hematol Oncol;35(3):385-389, 2017 Sep.
[Is] ISSN:1099-1069
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Inv(16)(p13q22) and t(16;16)(p13;q22) are cytogenetic hallmarks of acute myelomonoblastic leukaemia, most of them associated with abnormal bone marrow eosinophils [acute myeloid leukaemia French-American-British classification M4 with eosinophilia (FAB AML-M4Eo)] and a relatively favourable clinical course. They generate a 5'CBFB-3'MYH11 fusion gene. However, in a few cases, although RT-PCR identified a CBFB-MYH11 transcript, normal karyotype and/or fluorescent in situ hybridization (FISH) analyses using commercially available probes are found. We identified a 32-year-old woman with AML-M4Eo and normal karyotype and FISH results. Using two libraries of Bacterial Artificial Chromosome clones on 16p13 and 16q22, FISH analyses identified an insertion of 16q22 material in band 16p13, generating a CBFB-MYH11 type A transcript. Although very rare, insertions should be searched for in patients with discordant cytological and cytogenetic features because of the therapeutic consequences. Copyright © 2015 John Wiley & Sons, Ltd.
[Mh] Termos MeSH primário: Leucemia Mieloide Aguda/diagnóstico
Leucemia Mieloide Aguda/genética
Mutagênese Insercional
Proteínas de Fusão Oncogênicas/genética
[Mh] Termos MeSH secundário: Adulto
Biópsia
Exame de Medula Óssea
Pontos de Quebra do Cromossomo
Cromossomos Humanos Par 16
Feminino
Expressão Gênica
Seres Humanos
Hibridização in Situ Fluorescente
Cariótipo
Translocação Genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (CBFbeta-MYH11 fusion protein); 0 (Oncogene Proteins, Fusion)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171009
[Lr] Data última revisão:
171009
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170915
[St] Status:MEDLINE
[do] DOI:10.1002/hon.2268



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