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Development and characterization of 20 polymorphic microsatellite markers for Epinephelus marginatus (Lowe, 1834) (Perciformes: Epinephelidae) using 454 pyrosequencing Genet. Mol. Biol.
Vaini,Jussara Oliveira; Mota,Kenneth Gabriel; Ojeda,Alejandra Paola; Barreiros,João Pedro; Moreira,Renata Guimarães; Hilsdorf,Alexandre Wagner Silva.
Abstract The dusky grouper, Epinephelus marginatus, is a well-known and widespread marine fish assessed as endangered by the International Union for the Conservation of Nature. Analyzing the genetic diversity of this species is, therefore, of utmost importance and necessary for conservation purposes. Microsatellites are molecular tools with advantages that are ideal for population analyses. This study provides the first set of species-specific microsatellite loci for E. marginatus that can be applied when assessing both intra- and interpopulation genetic variation. Twenty microsatellite loci were isolated and characterized for the dusky grouper by genotyping 20 individuals obtained from the North Eastern Atlantic Ocean (n = 4) and from the South Western...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Short tandem repeat; Population genetics; Conservation; Fishery; Marine resources.
Ano: 2019 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000100074
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Analysis of the association between spawning time QTL markers and the biannual spawning behavior in rainbow trout (Oncorhynchus mykiss) Genet. Mol. Biol.
Colihueque,Nelson; Cárdenas,Rosy; Ramírez,Lorena; Estay,Francisco; Araneda,Cristian.
The rainbow trout is a salmonid fish that occasionally exhibits broodstocks with biannual spawning behavior, a phenomenon known as a double annual reproductive cycle (DARC). Spawning time quantitative trait loci (SPT-QTLs) affect the time of the year that female rainbow trout spawn and may influence expression of the DARC trait. In this study, microsatellite markers linked and unlinked to SPT-QTLs were genotyped to investigate the underlying genetics of this trait. SPT-QTLs influenced the DARC trait since in two case-control comparisons three linked markers (OmyFGT12TUF, One3ASC and One19ASC) had significant levels of allelic frequency differentiation and marker-character association. Furthermore, alleles of One3ASC and One19ASC had significantly higher...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Association analysis; Biannual spawning; Microsatellite markers; Rainbow trout.
Ano: 2010 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000300032
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Comparative analysis of clustering methods for gene expression time course data Genet. Mol. Biol.
Costa,Ivan G.; Carvalho,Francisco de A. T. de; Souto,Marcílio C. P. de.
This work performs a data driven comparative study of clustering methods used in the analysis of gene expression time courses (or time series). Five clustering methods found in the literature of gene expression analysis are compared: agglomerative hierarchical clustering, CLICK, dynamical clustering, k-means and self-organizing maps. In order to evaluate the methods, a k-fold cross-validation procedure adapted to unsupervised methods is applied. The accuracy of the results is assessed by the comparison of the partitions obtained in these experiments with gene annotation, such as protein function and series classification.
Tipo: Info:eu-repo/semantics/article Palavras-chave: Clustering methods; Gene expression time series; Unsupervised cross-validation; Cluster validation.
Ano: 2004 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000400025
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Three Mexican Families with β thalassemia intermedia with different molecular basis Genet. Mol. Biol.
Torre,Lourdes del Carmen Rizo de la; Díaz,Francisco Javier Perea; Cortés,Bertha Ibarra; López,Víctor Manuel Rentería; López,Josefina Yoaly Sánchez; Anzaldo,Francisco Javier Sánchez; Torres,María Teresa Magaña; Gonnet,Katia; Badens,Catherine; Bonello-Palot,Nathalie.
Abstract Beta thalassemia (β-thal) is a frequent monogenic disease, is clinically and molecularly heterogeneous. This study described molecular and laboratory findings for three Mexican patients with β-thal intermedia phenotype and their relatives. Three Mexican families were studied for presenting β-thal intermedia, ARMS-PCR and Gap-PCR were performed to screen for common mutations, Sanger sequencing for rare or new alleles, and MLPA for identifying deletions and or duplications. In all three families we observed, in heterozygote condition, the mutation c.118C > T (p.Gln39*) also known as codon 39(C > T) in the β globin gene (HBB) associated with a novel molecular defect: a new duplication of the alpha globin gene cluster, a new deletion that...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Thalassemia intermedia; Mexican population; Β globin gene; New mutations; Alpha-globin gene duplication.
Ano: 2019 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000500104
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Extensive polymorphism and chromosomal characteristics of ribosomal DNA in the characid fish Triportheus venezuelensis (Characiformes, Characidae) Genet. Mol. Biol.
Nirchio,Mauro; Oliveira,Claudio; Ferreira,Irani Alves; Granado,Angel; Ron,Ernesto.
The karyotype and chromosomal characteristics of the characid fish Triportheus venezuelensis were investigated using differential staining techniques (C-banding, Ag-NOR staining) and fluorescent in situ hybridization (FISH) with an 18S rDNA probe. The diploid chromosome number (2n = 52), karyotype composition and sex chromosome determination system of the ZZ/ZW type were the same as previously described in other species of the genus Triportheus. However, extensive variation regarding nucleolus organizer regions (NOR) different from other species was observed. 18S rDNA sequences were distributed on nine chromosome pairs, but the number of chromosomes with Ag-NORs was usually lower, reaching a maximum of four chromosomes. When sequential staining experiments...
Tipo: Info:eu-repo/semantics/article Palavras-chave: 18S rDNA; Ag-NORs; C-band; FISH; Fish cytogenetics; Sex chromosomes.
Ano: 2007 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000100007
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Population structure analysis of Pimelodus maculatus (Pisces, Siluriformes) from the Tietê and Paranapanema Rivers (Brazil) Genet. Mol. Biol.
Almeida,Fernanda Simões de; Sodré,Leda Maria Koelblinger; Contel,Eucleia Primo Betioli.
Pimelodus maculatus populations from the Tietê and Paranapanema rivers were sampled and had their genetic structure analyzed by using RAPD markers, with the aim of contributing to future conservation studies. The proportion of polymorphic loci was greater than 50% in the populations of both rivers. Genetic diversity data showed that, in spite of its nine hydroelectric plants, the Tietê river population was genetically homogeneous, whereas the Paranapanema river population was structured. This might be due to the presence of high waterfalls distributed all along its course. These data may serve as indicators for future conservation studies on the Tietê and Paranapanema rivers.
Tipo: Info:eu-repo/semantics/article Palavras-chave: RAPD markers; Population structure; Conservation; Genetic variability; Pimelodus.
Ano: 2003 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572003000300014
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Genetic evaluation of the mating system in the blue-and-yellow macaw (Ara ararauna, Aves, Psittacidae) by DNA fingerprinting Genet. Mol. Biol.
Caparroz,Renato; Miyaki,Cristina Y.; Baker,Allan J..
More than 90% of birds are socially monogamous, although genetic studies indicate that many are often not sexually monogamous. In the present study, DNA fingerprinting was used to estimate the genetic relationships between nestlings belonging to the same broods to evaluate the mating system in the socially monogamous macaw, Ara ararauna. We found that in 10 of 11 broods investigated, the nestlings showed genetic similarity levels congruent with values expected among full-sibs, suggesting that they shared the same parents. However, in one brood, the low genetic similarity observed between nestlings could be a result of intraspecific brood parasitism, intraspecific nest competition or extra-pair paternity. These results, along with available behavioral and...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Ara ararauna; Breeding behavior; DNA fingerprinting; Monogamy; Psittacidae.
Ano: 2011 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000100027
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Genetic structure of red-handed howler monkey populations in the fragmented landscape of Eastern Brazilian Amazonia Genet. Mol. Biol.
Bastos,Heitor B.; Gonçalves,Evonnildo C.; Ferrari,Stephen F.; Silva,Artur; Schneider,Maria Paula C..
We genotyped 15 microsatellite loci in order to evaluate the effects of habitat fragmentation, caused by flooding of the Tucuruí reservoir, on the genetic structure of Alouatta belzebul in eastern Amazonia. The analysis included two populations sampled in 1984, representing both margins of the Tocantins river, and three populations sampled 18 years later. Minimal differences in the diversity levels between present-day (Ho = 0.62-0.69 and A R = 6.07-7.21) and pre-flooding (Ho = 0.60-0.62 and A R = 6.27-6.77) populations indicated there was no significant loss of genetic variability, possibly because of successful management strategies applied during the flooding. The changes observed were limited to shifts in the composition of alleles, which presumably...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Alouatta belzebul; Amazonia; Conservation; Genetic structure; Habitat fragmentation.
Ano: 2010 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000400027
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Ecological drivers of plant genetic diversity at the southern edge of geographical distributions: Forestal vines in a temperate region Genet. Mol. Biol.
Barros,Michel J.F.; Diniz-Filho,José Alexandre F.; Freitas,Loreta B..
Abstract The Tropical Niche Conservatism hypothesis is one of the most relevant theories to explain why tropical diversity is high, although the mechanisms underlying this hypothesis require further clarification. A possible research avenue to address the underlying mechanisms includes determining population-level processes associated with such a hypothesis, in particular by trying to identify how adaptation may occur in extreme niche conditions at the edges of species ranges. However, the determinants of molecular diversity at the edges of geographical distributions of tropical taxa are still poorly known. Here we assessed which environmental variables determine diversity in nuclear and plastid genetic markers for populations of four Passiflora species in...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Distribution edges; Genetic diversity; Passiflora; Niche conservatism; Environmental drivers.
Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000200318
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The sugarcane signal transduction (SUCAST) catalogue: prospecting signal transduction in sugarcane Genet. Mol. Biol.
Souza,Glaucia Mendes; Simoes,Ana Carolina Quirino; Oliveira,Katia Cristina; Garay,Humberto Miguel; Fiorini,Leonardo Costa; Gomes,Felipe dos Santos; Nishiyama-Junior,Milton Yutaka; Silva,Aline Maria da.
EST sequencing has enabled the discovery of many new genes in a vast array of organisms, and the utility of this approach to the scientific community is greatly increased by the establishment of fully annotated databases. The present study aimed to identify sugarcane ESTs sequenced in the sugarcane expressed sequence tag (SUCEST) project (<A HREF="http://sucest.lad.ic.unicamp.br/">http://sucest.lad.ic.unicamp.br</A>) that corresponded to signal transduction components. We also produced a sugarcane signal transduction (SUCAST) catalogue (<A HREF="http://sucest.lad.ic.unicamp.br/private/mining-reports/QG/QG-mining.htm">http://sucest.lad.ic.unicamp.br/private/mining-reports/QG/QG-mining.htm</A>) that covered the main categories and...
Tipo: Info:eu-repo/semantics/article
Ano: 2001 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572001000100005
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A novel G21R mutation of the GJB2 gene causes autosomal dominant non-syndromic congenital deafness in a Cuban family Genet. Mol. Biol.
Rabionet,Raquel; Morales-Peralta,Estela; López-Bigas,Núria; Arbonés,Maria Lourdes; Estivill,Xavier.
Deafness is a complex disorder affecting 1/1000 infants. In developed countries, more than 50% of deafness cases are thought to have a genetic cause. At least 40 loci for dominant non-syndromic deafness and another 30 for recessive non-syndromic deafness have been described. Mutations in the GJB2 gene are the cause of an important number of cases of non-syndromic recessive deafness but are not as common in non-syndromic dominant deafness cases. We describe here a new dominant mutation (G21R) in the GJB2 gene which causes deafness and has been identified in a three generation Cuban family with dominant non-syndromic congenital sensorineural profound deafness.
Tipo: Info:eu-repo/semantics/article Palavras-chave: Connexin 26; GJB2; DFNA3; Hearing impairment.
Ano: 2006 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000300006
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Persistent double strand break accumulation does not precede cell death in an Olaparib-sensitive BRCA-deficient colorectal cancer cell model Genet. Mol. Biol.
Paviolo,Natalia Soledad; Vega,María Belén de la; Pansa,María Florencia; García,Iris Alejandra; Calzetta,Nicolás Luis; Soria,Gastón; Gottifredi,Vanesa.
Abstract The poly (adenosine diphosphate (ADP)-ribosyl) polymerase inhibitors (PARPi) selectively kill cancer cells with BRCA1 or BRCA2 (BRCA)-mutations. It has been proposed that cell death induction after PARPi depends on unrepaired double strand breaks (DSBs) that accumulate due to the homologous recombination deficiency of BRCA-mutated cells. Such accumulation of DSBs is inferred mainly from the high levels of DNA damage markers like phosphorylated histone H2AX. Herein, we developed a model of isogenic cell lines to show that depletion of BRCA causes PARPi-triggered cell death, replication stress (phosphorylated-H2AX and 53BP1 foci), and genomic instability. However, persistent DSBs accumulation was not detected under the same experimental conditions....
Tipo: Info:eu-repo/semantics/article Palavras-chave: GammaH2AX; Alternative end joining; Non-homologous end joining; Homologous recombination; PARP.
Ano: 2020 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000200303
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Analysis of Africanized honey bee mitochondrial DNA reveals further diversity of origin Genet. Mol. Biol.
Sheppard,Walter S.; Rinderer,Thomas E.; Garnery,Lionel; Shimanuki,Hachiro.
Within the past 40 years, Africanized honey bees spread from Brazil and now occupy most areas habitable by the species Apis mellifera, from Argentina to the southwestern United States. The primary genetic source for Africanized honey bees is believed to be the sub-Saharan honey bee subspecies A. m. scutellata. Mitochondrial markers common in A. m. scutellata have been used to classify Africanized honey bees in population genetic and physiological studies. Assessment of composite mitochondrial haplotypes from Africanized honey bees, using 4 base recognizing restriction enzymes and COI-COII intergenic spacer length polymorphism, provided evidence for a more diverse mitochondrial heritage. Over 25% of the "African" mtDNA found in Africanized populations in...
Tipo: Info:eu-repo/semantics/other
Ano: 1999 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571999000100015
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Erratum Genet. Mol. Biol.
Tipo: Info:eu-repo/semantics/report
Ano: 2002 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000400023
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The natural history of pregnancies with prenatal diagnosis of Trisomy 18 or Trisomy 13: Retrospective cases of a 23-year experience in a Brazilian public hospital Genet. Mol. Biol.
Duque,Julio Alejandro Peña; Ferreira,Charles Francisco; Zachia,Suzana de Azevedo; Sanseverino,Maria Teresa Vieira; Gus,Rejane; Magalhães,José Antônio de Azevedo.
Abstract Trisomy 18 (T18) and trisomy 13 (T13) are polymalformative syndromes associated with a high rate of spontaneous abortions, intrauterine death, and short postnatal life. This study describes the overall outcome in a country where the therapeutic interruption of pregnancy is not available. The medical records of women with prenatal diagnosis of full trisomy of T13 or T18 between October 1994 and October 2017 were analyzed in order to describe their natural outcomes. Thirteen cases of T13 and 29 cases of T18 were included. The miscarriage rate was 9% for T18 and no cases for T13. Intrauterine fetal death occurred in 46% and 52% of cases for T13 and T18, respectively. The rate of live births for T13 was 54%, and the median survival was one day (95% CI...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Natural history of trisomy; Trisomy 13; Trisomy 18; Prenatal diagnosis; Genetic counseling.
Ano: 2019 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200286
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Description and comparison of growth parameters in Chianina and Nelore cattle breeds Genet. Mol. Biol.
Carrijo,Sônia Mara; Duarte,Francisco A. Moura.
Weight data from birth to 18 months of age of Nelore and Chianina, both meat-producing cattle breeds, were analyzed. Data were corrected for significant effects of environment and utilized to estimate genetic parameters through the non-linear von Bertalanffy model. Average values found for growth parameters in Nelore were: mature weight (A), 312.87 kg; integration constant (B), 0.49; maturity rate (k), 0.13; age at inflection point (T(I)), 3.29 months; weight at inflection point (P(I)), 92.70 kg, and maturity interval (1/k), 8.04 months. For the Chianina animals, the values were 751.38 kg, 0.59, 0.10, 6.64 months, 222.63 kg, and 10.98 months, respectively. Nelore animals exhibited higher maturity rate, smaller maturity intervals, reaching mature weights...
Tipo: Info:eu-repo/semantics/article
Ano: 1999 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571999000200009
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Soft inheritance: challenging the modern synthesis Genet. Mol. Biol.
Jablonka,Eva; Lamb,Marion J..
This paper presents some of the recent challenges to the Modern Synthesis of evolutionary theory, which has dominated evolutionary thinking for the last sixty years. The focus of the paper is the challenge of soft inheritance - the idea that variations that arise during development can be inherited. There is ample evidence showing that phenotypic variations that are independent of variations in DNA sequence, and targeted DNA changes that are guided by epigenetic control systems, are important sources of hereditary variation, and hence can contribute to evolutionary changes. Furthermore, under certain conditions, the mechanisms underlying epigenetic inheritance can also lead to saltational changes that reorganize the epigenome. These discoveries are clearly...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Epigenetic inheritance; Hereditary variation; Lamarckism; Macroevolution; Microevolution.
Ano: 2008 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000300001
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Phylogenetic autocorrelation and evolutionary diversity of Carnivora (Mammalia) in Conservation Units of the New World Genet. Mol. Biol.
Tôrres,Natália Mundim; Diniz-Filho,José Alexandre Felizola.
One of the main concerns of Conservation Biology is the identification of priority areas for conservation, and the development of quantitative methods is important to achieve this task. Many phylogenetic diversity indexes and higher-taxon approaches have been used in this context. In this study, Faith's phylogenetic indexes and the number of evolutionary independent lineages of Carnivora were calculated at the average patch level based on phylogenetic autocorrelation analysis of phenotypic traits, in 18 conservation units in America (frequently National Parks). Despite controversies about the hierarchical level to be adopted, the characters included in this study suggest that the family level produces independent units for the analysis of phenotypic...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Phylogenetic autocorrelation; Carnivora; Conservation units; New World.
Ano: 2004 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000400008
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Chromosomal polymorphism in Drosophila willistoni populations from Uruguay Genet. Mol. Biol.
Valente,Vera Lúcia da Silva; Goñi,Beatriz; Valiati,Victor Hugo; Rohde,Cláudia; Morales,Nena Basílio.
Chromosomal polymorphism in natural populations of Drosophila willistoni from Uruguay and southern Brazil was investigated in order to understand the genetic characteristics and evolutionary potential of these almost geographically marginal populations. The level of chromosomal polymorphism in samples from Uruguay was higher than in those from the southernmost Brazilian state of Rio Grande do Sul. The increase in the polymorphism of these populations, in which the species almost reaches its southern limit, contradicts the low level of paracentric inversion polymorphism expected under the central-marginal chromosomal polymorphism cline previously reported. The high frequency of some inversions and the presence of unique inversions in samples from Uruguay...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Drosophila willistoni; Chromosome inversion polymorphism; Uruguayan natural populations.
Ano: 2003 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572003000200009
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Isoenzyme variation in the leaf-cutting ants Acromyrmex heyeri and Acromyrmex striatus (Hymenoptera, formicidae) Genet. Mol. Biol.
Diehl,Elena; Cavalli-Molina,Suzana; Araújo,Aldo Mellender de.
This is the first study of isoenzyme variability in the leaf-cutting ants (Myrmicinae, Attini) Acromyrmex heyeri (Forel, 1899) and A. striatus (Roger, 1863) which are common throughout the southern Brazilian state of Rio Grande do Sul. We studied the alloenzyme variability of malate dehydrogenase (MDH), alpha-glycerophosphate dehydrogenase (alpha-GPDH) and amylase (AMY) in 97 colonies of A. heyeri and 103 colonies of A. striatus. Five loci were found for these enzyme systems, one locus (Amy-1) being monomorphic in both species and four loci (Mdh-1, alpha-Gpdh-1, Amy-2, and Amy-4) being polymorphic. For each species there were exclusive alleles for the Mdh-1 and Amy-2 loci and differences were also found in the allele frequencies for the other polymorphic...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Ants; Allozyme variation; Fungus grower ants; Genetic polymorphism; Haplodiploid.
Ano: 2002 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000200010
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