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Registros recuperados: 5.225
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Molecular identification of Mazama species (Cervidae: Artiodactyla) from natural history collections Genet. Mol. Biol.
Mantellatto,Aline Meira Bonfim; González,Susana; Duarte,José Maurício Barbanti.
Abstract Natural history museum collections constitute an invaluable patrimony of biological diversity for analysing the taxa distribution and evolution. However, it is very common to discover taxonomic misidentification in museum collections based on incorrect data. The aim of this research was to identify brocket deer species (Mazama genus) using molecular markers. We collected 199 samples, performed DNA extraction and species identification using a specific mitochondrial marker based on a fragment of cytochrome b (Cytb) for Neotropical deer. We achieved the amplification and sequencing of 77 specimens and verified that 26% of the skulls were wrongly identified. Moreover, in the museum collections 57% of the specimens were only identified as Mazama sp,...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Cytochrome b; Deer; DNA; Mammal; Morphological taxonomy.
Ano: 2020 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000400201
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Resistance mutations of NS3 and NS5b in treatment-naïve patients infected with hepatitis C virus in Santa Catarina and Rio Grande do Sul states, Brazil Genet. Mol. Biol.
Andrade,Elisabete; Rocha,Daniele; Fontana-Maurell,Marcela; Costa,Elaine; Ribeiro,Marisa; Godoy,Daniela Tupy de; Ferreira,Antonio G.P.; Tanuri,Amilcar; Brindeiro,Rodrigo; Alvarez,Patrícia.
Abstract Hepatitis C virus (HCV) infection is a worldwide health problem. Nowadays, direct-acting antiviral agents (DAAs) are the main treatment for HCV; however, the high level of virus variability leads to the development of resistance-associated variants (RAVs). Thus, assessing RAVs in infected patients is important for monitoring treatment efficacy. The aim of our study was to investigate the presence of naturally occurring resistance mutations in HCV NS3 and NS5 regions in treatment-naïve patients. Ninety-six anti-HCV positive serum samples from blood donors at the Center of Hematology and Hemotherapy of Santa Catarina State (HEMOSC) were collected retrospectively in 2013 and evaluated in this study. HCV 1a (37.9%), 1b (25.3%), and 3a (36.8%) subtypes...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Direct-acting antivirals; Resistance-associated substitutions; Blood donors; NS3; NS5b.
Ano: 2020 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100107
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Maternal transmission of mitochondrial diseases Genet. Mol. Biol.
Chiaratti,Marcos R.; Macabelli,Carolina H.; Augusto Neto,José Djaci; Grejo,Mateus Priolo; Pandey,Anand Kumar; Perecin,Felipe; Collado,Maite del.
Abstract Given the major role of the mitochondrion in cellular homeostasis, dysfunctions of this organelle may lead to several common diseases in humans. Among these, maternal diseases linked to mitochondrial DNA (mtDNA) mutations are of special interest due to the unclear pattern of mitochondrial inheritance. Multiple copies of mtDNA are present in a cell, each encoding for 37 genes essential for mitochondrial function. In cases of mtDNA mutations, mitochondrial malfunctioning relies on mutation load, as mutant and wild-type molecules may co-exist within the cell. Since the mutation load associated with disease manifestation varies for different mutations and tissues, it is hard to predict the progeny phenotype based on mutation load in the progenitor. In...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Oocyte; Germline; Mitochondrial dynamics; MtDNA; Metabolism.
Ano: 2020 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000200308
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Large miRNA survival analysis reveals a prognostic four-biomarker signature for triple negative breast cancer Genet. Mol. Biol.
Andrade,Fernando; Nakata,Asuka; Gotoh,Noriko; Fujita,André.
Abstract Triple negative breast cancer (TNBC) is currently the only major breast tumor subtype without effective targeted therapy and, as a consequence, usually presents a poor outcome. Due to its more aggressive phenotype, there is an urgent clinical need to identify novel biomarkers that discriminate individuals with poor prognosis. We hypothesize that miRNAs can be used to this end because they are involved in the initiation and progression of tumors by altering the expression of their target genes. To identify a prognostic biomarker in TNBC, we analyzed the miRNA expression of a cohort composed of 185 patients diagnosed with TNBC using penalized Cox regression models. We identified a four-biomarker signature based on miR-221, miR-1305, miR-4708, and...
Tipo: Info:eu-repo/semantics/article Palavras-chave: MiRNA; MiR-221; MiR-1305; MiR-4708; RMDN2.
Ano: 2020 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100110
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A comparison between SOLiD 5500XLand Ion Torrent PGM-derived miRNA expression profiles in two breast cell lines Genet. Mol. Biol.
Branco,Gabriela Pereira; Valieris,Renan; Povoa,Lucas Venezian; Araújo,Luiza Ferreira de; Fernandes,Gustavo Ribeiro; Souza,Jorge Estefano Santana de; Amorim,Maria Galli de; Ferreira,Elisa Napolitano e; Silva,Israel Tojal da; Nunes,Diana Noronha; Dias-Neto,Emmanuel.
Abstract Next-generation sequencing (NGS) platforms allow the analysis of hundreds of millions of molecules in a single sequencing run, revolutionizing many research areas. NGS-based microRNA studies enable expression quantification in unprecedented scale without the limitations of closed-platforms. Yet, whereas a massive amount of data produced by these platforms is available, comparisons of quantification/discovery capabilities between platforms are still lacking. Here we compare two NGS-platforms: SOLiD and PGM, by evaluating their microRNA identification/quantification capabilities using two breast-derived cell-lines. A high expression correlation (R2 > 0.9) was achieved, encompassing 97% of the miRNAs, and the few discrepancies in miRNA counts were...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Next-generation sequencing (NGS); MiRNA expression profiles; SOLiD; PGM.
Ano: 2020 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000400802
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Novel mutation in ENG gene causing Hereditary Hemorrhagic Telangiectasia in a Peruvian family Genet. Mol. Biol.
Zevallos-Morales,Alejandro; Murillo,Alexis; Dueñas-Roque,Milagros M.; Prötzel,Ana; Venegas-Tresierra,Luis; Ángeles-Villalba,Verónica; Guevara-Cruz,Miguel; Chávez-Gil,Ada; Fujita,Ricardo; Guevara-Fujita,Maria L..
Abstract Hereditary Hemorrhagic Telangiectasia (HHT) is a rare disorder of vascular development. Common manifestations include epistaxis, telangiectasias and arteriovenous malformations (AVMs) in multiple organs. Most patients have deletions or missense mutations in the ENG or ACVRL1 gene respectively, significantly affecting endothelium homeostasis. We analyzed the ENG gene in five members of a Peruvian family affected by HHT. One novel mutation was found in exon four of the ENG gene c.408delA, at aminoacid residue 136. This mutation changes the subsequent reading frame producing an early stop at residue 162, preserving only one fourth of the normal protein of 658 aa. This mutation was found in the four affected members of family.
Tipo: Info:eu-repo/semantics/other Palavras-chave: ENG; Hereditary Hemorrhagic Telangiectasia; Osler-Weber-Rendu disease.
Ano: 2020 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100109
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Ecological setup, ploidy diversity, and reproductive biology of Paspalum modestum, a promising wetland forage grass from South America Genet. Mol. Biol.
Karunarathne,Piyal; Feduzka,Cristian; Diego,Hojsgaard.
Abstract With ever-rising demand for food, forage breeding for intensification of cattle production is also taking a leap. In South America, cattle production systems are displaced to marginal areas poorly exploited with cultivated pastures yet with high potential for growing stocking rates. This places the need for using native genetic resources to breed locally adapted plant genotypes that benefits from better forage quality, yield, and lesser threat to the local biodiversity. Paspalum modestum Mez is a grass species that produces quality forage and grows in marginal areas like estuaries and floodplains, suitable for introduction in breeding programs. In this study we characterize the species' reproductive biology and ecological preferences needed...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Apomixis; Ecological niche; Plant breeding; Polyploidy; Sexuality.
Ano: 2020 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000300304
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Proteomic analysis of a clavata-like phenotype mutant in Brassica napus Genet. Mol. Biol.
Zhu,Keming; Zhang,Weiwei; Sarwa,Rehman; Xu,Shuo; Li,Kaixia; Yang,Yanhua; Li,Yulong; Wang,Zheng; Cao,Jun; Li,Yaoming; Tan,Xiaoli.
Abstract Rapeseed is one of important oil crops in China. Better understanding of the regulation network of main agronomic traits of rapeseed could improve the yielding of rapeseed. In this study, we obtained an influrescence mutant that showed a fusion phenotype, similar with the Arabidopsis clavata-like phenotype, so we named the mutant as Bnclavata-like (Bnclv-like). Phenotype analysis illustrated that abnormal development of the inflorescence meristem (IM) led to the fused-inflorescence phenotype. At the stage of protein abundance, major regulators in metabolic processes, ROS metabolism, and cytoskeleton formation were seen to be altered in this mutant. These results not only revealed the relationship between biological processes and inflorescence...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Brassica napus; Proteomic; Inflorescence meristem (IM); Bnclavata-like (Bnclv-like); Quantitative real-time PCR.
Ano: 2020 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100308
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Birth defects in Brazil: Outcomes of a population-based study Genet. Mol. Biol.
Oliveira-Brancati,Camila Ive Ferreira; Ferrarese,Valéria Cristina Carvalho; Costa,Antonio Richieri; Fett-Conte,Agnes Cristina.
Abstract Birth defects (BDs) are functional and structural alterations in embryonic or fetal development. With an incidence of approximately 3-5%, BDs are a leading cause of infant mortality and lifelong disability. A population-based prospective case-control study was conducted for one year with 5204 infants, between March 1st, 2011 and February 29th, 2012 in the city of São José do Rio Preto, State of São Paulo, Brazil. The incidence of BDs was 3.2% [95% confidence interval (95%CI): 2.8-3.8%]. The most common congenital anomalies were heart diseases in isolation (11.2%; 95%CI: 7.3-16.9%) followed by Down syndrome (9.5%; 95%CI: 5.9-14.8%), neural tube defects (8.9%; 95%CI: 5.4-14.1), urinary tract anomalies (7.7%; 95%CI: 4.4-12.7%), and polydactyly (7.0%;...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Malformation; Congenital anomaly; Fetal development; Genetic counseling; Public health.
Ano: 2020 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100102
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ANRIL rs1333049 C/G polymorphism and coronary artery disease in a North Indian population - Gender and age specific associations Genet. Mol. Biol.
Kaur,Naindeep; Singh,Jagtar; Reddy,Sreenivas.
Abstract Many studies conducted worldwide substantiate a role of genetic polymorphisms in non-coding regions linked with coronary artery disease (CAD). One such single nucleotide polymorphism (SNP) of a non-coding RNA in the INK4 locus (ANRIL) i.e. rs1333049 C/G in the vicinity of cell cycle regulating genes is documented to have a role in CAD risk. In this study we aimed to determine the association of ANRIL rs1333049 C/G with CAD in a North Indian population. Five hundred disease free controls and 500 CAD patients were genotyped using allele specific ARMS-PCR method. High risk association of rs1333049 was seen in both heterozygous and mutant genotypes (OR=2.883, 95% CI=1.475-5.638 and p=0.002 and OR=6.717, 95% CI=3.444-13.102 and p < 0.001...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Genetic polymorphism; Coronary artery disease; North Indian Population; ARMS-PCR; Epidemiology study.
Ano: 2020 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100114
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Molecular characterization and transcription analysis of DNA methyltransferase genes in tomato (Solanum lycopersicum) Genet. Mol. Biol.
Guo,Xuhu; Xie,Qian; Li,Baoyuan; Su,Huanzhen.
Abstract DNA methylation plays an important role in plant growth and development, gene expression regulation, and maintenance of genome stability. However, only little information regarding stress-related DNA methyltransferases (MTases) genes is available in tomato. Here, we report the analysis of nine tomato MTases, which were categorized into four known subfamilies. Structural analysis suggested their DNA methylase domains are highly conserved, whereas the N-terminals are divergent. Tissue-specific analysis of these MTase genes revealed that SlCMT2, SlCMT3, and SlDRM5 were expressed higher in young leaves, while SlMET1, SlCMT4, SlDRM7, and SlDRM8 were highly expressed in immature green fruit, and their expression declined continuously with further fruit...
Tipo: Info:eu-repo/semantics/article Palavras-chave: DNA methylation; Tissue-specific expression; Abiotic stress; Fruit ripening; Tomato.
Ano: 2020 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100307
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Cooperation and interplay between base and nucleotide excision repair pathways: From DNA lesions to proteins Genet. Mol. Biol.
Kumar,Namrata; Moreno,Natália C.; Feltes,Bruno C.; Menck,Carlos FM; Houten,Bennett Van.
Abstract Base and nucleotide excision repair (BER and NER) pathways are normally associated with removal of specific types of DNA damage: small base modifications (such as those induced by DNA oxidation) and bulky DNA lesions (such as those induced by ultraviolet or chemical carcinogens), respectively. However, growing evidence indicates that this scenario is much more complex and these pathways exchange proteins and cooperate with each other in the repair of specific lesions. In this review, we highlight studies discussing the involvement of NER in the repair of DNA damage induced by oxidative stress, and BER participating in the removal of bulky adducts on DNA. Adding to this complexity, UVA light experiments revealed that oxidative stress also causes...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Base excision repair; Nucleotide excision repair; DNA damage; Protein oxidation; UVA light.
Ano: 2020 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000200309
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[RETRACTION]: Expression of serum microRNA-378 and its clinical significance in renal cell carcinoma Genet. Mol. Biol.
Ano: 2020 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000400950
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YUCCA4 overexpression modulates auxin biosynthesis and transport and influences plant growth and development via crosstalk with abscisic acid in Arabidopsis thaliana Genet. Mol. Biol.
Munguía-Rodríguez,Aarón Giovanni; López-Bucio,Jesús Salvador; Ruiz-Herrera,León Francisco; Ortiz-Castro,Randy; Guevara-García,Ángel Arturo; Marsch-Martínez,Nayelli; Carreón-Abud,Yazmín; López-Bucio,José; Martínez-Trujillo,Miguel.
Abstract Auxin regulates a plethora of events during plant growth and development, acting in concert with other phytohormones. YUCCA genes encode flavin monooxygenases that function in tryptophan-dependent auxin biosynthesis. To understand the contribution of the YUCCA4 (YUC4) gene on auxin homeostasis, plant growth and interaction with abscisic acid (ABA) signaling, 35S::YUC4 seedlings were generated, which showed elongated hypocotyls with hyponastic leaves and changes in root system architecture that correlate with enhanced auxin responsive gene expression. Differential expression of PIN1, 2, 3 and 7 auxin transporters was detected in roots of YUC4 overexpressing seedlings compared to the wild-type: PIN1 was down-regulated whereas PIN2, PIN3 and PIN7...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Arabidopsis; Auxin; Abscisic acid; YUCCA4; Root growth; Germination.
Ano: 2020 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100302
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Role of the MAPK pathway in human lung epithelial-like A549 cells apoptosis induced by paraquat Genet. Mol. Biol.
Sun,Da-Zhuang; Song,Chun-Qing; Xu,Yong-Min; Dong,Xue-Song.
Abstract This study aims to investigate the value of mitogen-activated protein kinases (MAPKs) for paraquat (PQ)-induced apoptosis in human lung epithelial-like A549 cells and the specific mechanism. A549 cell apoptosis were induced by PQ. These cells were divided into six groups: control group (cells were cultured in RPMI-1640 medium); SP600125 group (cells were preconditioned with SP600125); SB203580 group (cells were preconditioned with SB203580); PQ group (cells were treated with PQ); SP600125+PQ group (cells were preconditioned with SP600125 following PQ); SB203580+PQ group (cells were preconditioned with SB203580 following PQ). The cell survival rate, apoptosis rate, and activities of caspase-3 and -9 were detected. When compared with the control...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Paraquat; A549 cells; MAPKs; Mitochondria; Apoptosis.
Ano: 2020 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000400701
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SSD - a free software for designing multimeric mono-, bi- and trivalent shRNAs Genet. Mol. Biol.
Carli,Gabriel José de; Rotela,Abdon Troche; Lubini,Greice; Contiliani,Danyel Fernandes; Candia,Nidia Benítez; Depintor,Thiago S.; Abreu,Fabiano Carlos Pinto de; Simões,Zilá Luz Paulino; Ríos,Danilo Fernández; Pereira,Tiago Campos.
Abstract RNA interference (RNAi) is a powerful gene silencing technology, widely used in analyses of reverse genetics, development of therapeutic strategies and generation of biotechnological products. Here we present a free software tool for the rational design of RNAi effectors, named siRNA and shRNA designer (SSD). SSD incorporates our previously developed software Strand Analysis to construct template DNAs amenable for the large scale production of mono-, bi- and trivalent multimeric shRNAs, via in vitro rolling circle transcription. We tested SSD by creating a trivalent multimeric shRNA against the vitellogenin gene of Apis mellifera. RT-qPCR analysis revealed that our molecule promoted a decrease in more than 50% of the target mRNA, in a...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Gene silencing; SiRNA; Multimeric; ShRNA; Free software.
Ano: 2020 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100802
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Epistasis of polymorphisms related to the articular cartilage extracellular matrix in knee osteoarthritis: Analysis-based multifactor dimensionality reduction Genet. Mol. Biol.
Fernández-Torres,Javier; Martínez-Nava,Gabriela Angélica; Zamudio-Cuevas,Yessica; Lozada,Carlos; Garrido-Rodríguez,Daniela; Martínez-Flores,Karina.
Abstract Osteoarthritis (OA) is a complex disease with a multifactorial etiology. The genetic component is one of the main associated factors, resulting from interactions between genes and environmental factors. The aim of this study was to identify gene-gene interactions (epistasis) of the articular cartilage extracellular matrix (ECM) in knee OA. Ninety-two knee OA patients and 147 healthy individuals were included. Participants were genotyped in order to evaluate nine variants of eight genes associated with ECM metabolism using the OpenArray technology. Epistasis was analyzed using the multifactor dimensionality reduction (MDR) method. The MDR analysis showed significant gene-gene interactions between MMP3 (rs679620) and COL3A1 (rs1800255), and between...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Epistasis; Extracellular matrix; Knee osteoarthritis; Multifactor dimensionality reduction; Polymorphisms.
Ano: 2020 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000400102
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Bringing to light the molecular evolution of GUX genes in plants Genet. Mol. Biol.
Gallinari,Rafael Henrique; Coletta,Rafael Della; Araújo,Pedro; Menossi,Marcelo; Nery,Mariana Freitas.
Abstract Hemicellulose and cellulose are essential polysaccharides for plant development and major components of cell wall. They are also an important energy source for the production of ethanol from plant biomass, but their conversion to fermentable sugars is hindered by the complex structure of cell walls. The glucuronic acid substitution of xylan (GUX) enzymes attach glucuronic acid to xylan, a major component of hemicellulose, decreasing the efficiency of enzymes used for ethanol production. Since loss-of-function gux mutants of Arabidopsis thaliana enhance enzyme accessibility and cell wall digestion without adverse phenotypes, GUX genes are potential targets for genetically improving energy crops. However, comprehensive identification of GUX in...
Tipo: Info:eu-repo/semantics/other Palavras-chave: GUX; Sugarcane; Phylogeny; Angiosperms; Biofuels.
Ano: 2020 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100602
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Genetic evidence for a species complex within the piranha Serrasalmus maculatus (Characiformes, Serrasalmidae) from three Neotropical river basins based on mitochondrial DNA sequences Genet. Mol. Biol.
Bignotto,Thaís Souto; Maniglia,Thiago Cintra; Gomes,Vivian Nunes; Oliveira,Isadora Janolio de; Agostinho,Carlos Sérgio; Prioli,Sônia Maria Alves Pinto; Prioli,Alberto José.
Abstract Mitochondrial molecular markers (DNA sequences of D-loop, cytochrome b and cytochrome c oxidase I) were employed to characterize populations of the piranha Serrasalmus maculatus from Upper Paraná, Upper Paraguay and Tocantins River basins. D-loop sequences of S. maculatus population from Paraná-Paraguay River basin exhibited tandem repeats of short motifs (12 base pairs) and variable numbers depending on specimens, accounting for length variation. Concatenated mitochondrial sequences suggested that S. maculatus encompasses different mitochondrial DNA lineages. Although sampling was restricted to three river basins, phylogenetic analysis clearly indicated that the species currently recognized as S. maculatus presents high genetic variability....
Tipo: Info:eu-repo/semantics/article Palavras-chave: Cryptic species; Species delimitation; D-loop; Cytochrome b; Cytochrome c oxidase I.
Ano: 2020 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100801
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Identification of histone methylation modifiers and their expression patterns during somatic embryogenesis in Hevea brasiliensis Genet. Mol. Biol.
Li,Hui-Liang; Guo,Dong; Zhu,Jia-Hong; Wang,Ying; Peng,Shi-Qing.
Abstract Histone methylation plays a crucial role in various biological processes, from heterochromatin formation to transcriptional regulation. Currently, no information is available regarding histone methylation modifiers in the important rubber-producing plant Hevea brasiliensis. Here, we identified 47 histone methyltransferase (HMT) genes and 25 histone demethylase (HDM) genes as possible members of the histone methylation modifiers in the rubber tree genome. According to the structural features of HMT and HDM, the HbHMTs were classified into two groups (HbPRMs and HbSDGs), the HbHDMs have two groups (HbLSDs and HbJMJs). Expression patterns were analyzed in five different tissues and at different phases of somatic embryogenesis. HbSDG10, 21, 25, 33,...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Hevea brasiliensis; Histone methylation; Histone methyltransferase; Histone demethylase; Somatic embryogenesis.
Ano: 2020 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100301
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