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A viable fetus presenting 68,XX[73]/69,XXX[27] triploid mosaicism Genet. Mol. Biol.
Acosta,A.X.; Peres,L.C.; Mazzucatto,L.F.; Pina-Neto,J.M..
Triploidy is common in human pregnancies. It is detected in 1 to 2% of clinically recognized pregnancies and in approximately 15 to 20% of spontaneous abortions produced by chromosome anomalies. We report a premature liveborn girl (30 weeks of gestation) with microcephaly, facial dysmorphism and skeletal abnormalities who died at one day of age due to respiratory failure. The placenta showed partial hydatiform mole. Autopsy revealed no internal malformations. Cytogenetic analysis of 100 metaphases obtained from renal tissue culture revealed a 68,XX[73]/69,XXX[27] karyotype. To our knowledge this is the first report in the literature of 68,XX[73]/69,XXX[27] mosaicism in a liveborn infant.
Tipo: Info:eu-repo/semantics/article
Ano: 1998 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000300002
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A walk on the wild side: Oryza species as source for rice abiotic stress tolerance Genet. Mol. Biol.
Menguer,Paloma Koprovski; Sperotto,Raul Antonio; Ricachenevsky,Felipe Klein.
Abstract Oryza sativa, the common cultivated rice, is one of the most important crops for human consumption, but production is increasingly threatened by abiotic stresses. Although many efforts have resulted in breeding rice cultivars that are relatively tolerant to their local environments, climate changes and population increase are expected to soon call for new, fast generation of stress tolerant rice germplasm, and current within-species rice diversity might not be enough to overcome such needs. The Oryza genus contains other 23 wild species, with only Oryza glaberrima being also domesticated. Rice domestication was performed with a narrow genetic diversity, and the other Oryza species are a virtually untapped genetic resource for rice stress tolerance...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Oryza; Rice; Wild species; Abiotic stress; Domestication.
Ano: 2017 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000200238
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A web-based bioinformatics interface applied to the GENOSOJA project: databases and pipelines Genet. Mol. Biol.
Nascimento,Leandro Costa do; Costa,Gustavo Gilson Lacerda; Binneck,Eliseu; Pereira,Gonçalo Amarante Guimarães; Carazzolle,Marcelo Falsarella.
The Genosoja consortium is an initiative to integrate different omics research approaches carried out in Brazil. Basically, the aim of the project is to improve the plant by identifying genes involved in responses against stresses that affect domestic production, like drought stress and Asian Rust fungal disease. To do so, the project generated several types of sequence data using different methodologies, most of them sequenced by next generation sequencers. The initial stage of the project is highly dependent on bioinformatics analysis, providing suitable tools and integrated databases. In this work, we describe the main features of the Genosoja web database, including the pipelines to analyze some kinds of data (ESTs, SuperSAGE, microRNAs, subtractive...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Bioinformatics; Database; Gene expression; Soybean; Genosoja.
Ano: 2012 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000200002
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A Young Seedling Stripe2 phenotype in rice is caused by mutation of a chloroplast-localized nucleoside diphosphate kinase 2 required for chloroplast biogenesis Genet. Mol. Biol.
Zhou,Kunneng; Xia,Jiafa; Wang,Yuanlei; Ma,Tingchen; Li,Zefu.
Abstract Chloroplast development and chlorophyll (Chl) biosynthesis in plants are regulated by many genes, but the underlying molecular mechanisms remain largely elusive. We isolated a rice mutant named yss2 (young seedling stripe2) with a striated seedling phenotype beginning from leaf 2 of delayed plant growth. The mutant developed normal green leaves from leaf 5, but reduced tillering and chlorotic leaves and panicles appeared later. Chlorotic yss2 seedlings have decreased pigment contents and impaired chloroplast development. Genetic analysis showed that the mutant phenotype was due to a single recessive gene. Positional cloning and sequence analysis identified a single nucleotide substitution in YSS2 gene causing an amino acid change from Gly to Asp....
Tipo: Info:eu-repo/semantics/article Palavras-chave: Chloroplast biogenesis; NDPK; Oryza sativa; Positional cloning; YSS2 gene.
Ano: 2017 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000400630
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ABC transporters in Mycoplasma hyopneumoniae and Mycoplasma synoviae: insights into evolution and pathogenicity Genet. Mol. Biol.
Nicolás,Marisa Fabiana; Barcellos,Fernando Gomes; Nehab Hess,Pablo; Hungria,Mariangela.
ABC transporters represent one of the largest superfamilies of active membrane transport proteins (MTPs) with a highly conserved ATPase domain that binds and hydrolyzes ATP, supplying energy for the uptake of a variety of nutrients and for the extrusion of drugs and metabolic wastes. The complete genomes of a non-pathogenic (J) and pathogenic (7448) strain of Mycoplasma hyopneumoniae, as well as of a pathogenic (53) strain of Mycoplasma synoviae have been recently sequenced. A detailed study revealed a high percentage of CDSs encoding MTPs in M. hyopneumoniae strains J (13.4%), 7448 (13.8%), and in M. synoviae 53 (11.2%), and the ABC systems represented from 85.0 to 88.6% of those CDSs. Uptake systems are mainly involved in cell nutrition and some might be...
Tipo: Info:eu-repo/semantics/article Palavras-chave: ABC transporters; Bioinformatics; Genomes of microorganisms; Membrane transport proteins; Mycoplasma; Phylogeny of prokaryotes.
Ano: 2007 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000200006
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Abnormal spindle orientation during microsporogenesis in an interspecific Brachiaria (Gramineae) hybrid Genet. Mol. Biol.
Mendes-Bonato,Andréa Beatriz; Pagliarini,Maria Suely; Valle,Cacilda Borges do.
This paper reports a case of abnormal spindle orientation during microsporogenesis in an interspecific hybrid of the tropical grass Brachiaria. In the affected plant, prophase I was normal. In metaphase I, bivalents were regularly co-oriented but distantly positioned and spread over the equatorial plate. In anaphase I, chromosomes failed to converge into focused poles due to parallel spindle fibers. As a consequence, in telophase I, an elongated nucleus or several micronuclei were observed in each pole. In the second division, the behavior was the same, leading to polyads with several micronuclei. A total of 40% of meiotic products were affected. The use of this hybrid in production systems needing good-quality seeds is discussed.
Tipo: Info:eu-repo/semantics/article Palavras-chave: Brachiaria; Interspecific hybrid; Meiosis; Spindle abnormality; Tropical grass.
Ano: 2006 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000100023
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Absence of mutagenicity in somatic and germ cells of mice submitted to subchronic treatment with an extract of Croton cajucara Benth. (Euphorbiaceae) Genet. Mol. Biol.
Santos,Fabio V.; Mesquita,Suzana F.P.; Faria,Maria José S.S.; Poersh,Aline; Maciel,Maria Aparecida M.; Pinto,Angelo C.; Morimoto,Helena K.; Cólus,Ilce Mara S..
The plant Croton cajucara Benth. (Euphorbiaceae) is a medicinal plant from the Brazilian Amazon where it is commonly known as sacaca. The principal compound isolated from C. cajucara stem-bark extracts is the clerodane-type diterpene trans-dehydrocrotonin (DCTN) which presents several biological activities, including antiulcerogenic, anti-inflammatory, hypoglycemic, antimutagenic and antitumoral activity. However, few studies have been carried out to evaluate the therapeutic potential of raw C. cajucara extracts. We studied mutagenicity and antimutagenicity effects of C. cajucara methanol extract using the micronucleus assay in bone marrow cells and the dominant lethal assay in mice submitted to subchronic treatments. The blood testosterone levels of the...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Antimutagenicity; Mutagenicity; Dominant lethal; Micronucleus; Croton cajucara; Medicinal plant.
Ano: 2006 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000100029
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Absence of TERT promoter mutations in colorectal precursor lesions and cancer Genet. Mol. Biol.
Cruvinel-Carloni,Adriana; Yamane,Letícia; Scapulatempo-Neto,Cristovam; Guimarães,Denise; Reis,Rui Manuel.
Abstract Hotspot mutations (c.-124bp G > A and c.-146bp G > A) in the promoter region of the TERT gene have been recently described in several types of solid tumors, including glioma, bladder, thyroid, liver and skin neoplasms. However, knowledge with respect to colorectal precursor lesions and cancer is scarce. In the present study we aimed to determine the frequency of hotspot TERT promoter mutations in 145 Brazilian patients, including 103 subjects with precursor lesions and 42 with colorectal carcinomas, and we associated the presence of such mutations with the patients clinical-pathological features. The mutation analysis was conclusive in 123 cases, and none of the precursor and colorectal carcinoma cases showed TERT promoter mutations. We...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Colorectal carcinoma; TERT promoter mutations; Precursor lesions.
Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000100082
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Absence of the -116A variant of the butyrylcholinesterase BCHE gene in Guarani Amerindians from Mato Grosso do Sul Genet. Mol. Biol.
Nunes,Kelly; Souza,Ricardo L.R.; Furtado-Alle,Lupe; Tsuneto,Luiza T.; Petzl-Erler,Maria Luiza; Chautard-Freire-Maia,Eleidi A..
Butyrylcholinesterase (BChE; EC 3.1.1.8; Online Mendelian Inheritance in Man (OMIM) number 177400) is an enzyme found in many human tissues and encoded by the BCHE gene, of which 65 variants have been identified. In a recent study we found that the -116A variant of exon 1 of the BCHE gene was associated with lower mean BChE activity. The present study analyzed the -116 single nucleotide polymorphism (SNP) in 253 Guarani Amerindian Brazilians from the state of Mato Grosso do Sul (148 Guarani-Kaiowá, 83 Guarani-Ñandeva and 22 Kaiowá-Ñandeva descendants) and verified that they were all homozygotic for the -116G variant. A comparative analysis of the -116 site in nine vertebrate species indicated the -116A variant as the ancestral type. This is the first study...
Tipo: Info:eu-repo/semantics/other Palavras-chave: Amerindians; BCHE gene; Guarani-Kaiowá; Guarani-Ñandeva.
Ano: 2008 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000100004
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Absence of the A4 peptide in the G4 glycinin subunit of soybean cultivar Enrei is caused by a point mutation in the Gy4 gene Genet. Mol. Biol.
Yu,Kangfu; Poysa,Vaino; Haffner,Margaret; Zhang,Bailing; Woodrow,Lorna.
Functional properties of soy proteins for food are closely related to the composition of their storage protein subunits. Using base excision sequence scanning (BESS), we show that the absence of the A4 peptide in the G4 glycinin subunit of the soybean (Glycine max L.) cultivar Enrei was caused by the same point mutation in the Gy4 gene as previously reported in the soybean cultivar Raiden. Although the genetic relationship between Raiden and Enrei is not known, the same point mutation in their Gy4 genes may indicate that they probably share a related origin. The application of BESS to identify single nucleotide polymorphisms (SNPs) as co-dominant markers for marker-assisted selection (MAS) of a recessive null allele is also discussed.
Tipo: Info:eu-repo/semantics/other Palavras-chave: Base excision sequence scanning (BESS); Marker-assisted selection (MAS); Single nucleotide polymorphisms (SNPs); Seed storage protein; Soybean.
Ano: 2005 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000300018
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Acetosyringone, pH and temperature effects on transient genetic transformation of immature embryos of Brazilian wheat genotypes by Agrobacterium tumefaciens Genet. Mol. Biol.
Manfroi,Ernandes; Yamazaki-Lau,Elene; Grando,Magali F.; Roesler,Eduardo A..
Abstract Low transformation efficiency is one of the main limiting factors in the establishment of genetic transformation of wheat via Agrobacterium tumefaciens. To determine more favorable conditions for T-DNA delivery and explant regeneration after infection, this study investigated combinations of acetosyringone concentration and pH variation in the inoculation and co-cultivation media and co-culture temperatures using immature embryos from two Brazilian genotypes (BR 18 Terena and PF 020037). Based on transient expression of uidA, the most favorable conditions for T-DNA delivery were culture media with pH 5.0 and 5.4 combined with co-culture temperatures of 22 °C and 25 °C, and a 400 μM acetosyringone supplement. These conditions resulted in blue foci...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Co-cultivation conditions; Protocol establishment; GUS; T-DNA delivery.
Ano: 2015 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000400470
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Acid phosphatase polymorphism within and among populations of Cauliflower (Brassica oleracea var botrytis) Genet. Mol. Biol.
Marino,Celso Luis; Gimenes,Marcos Aparecido; Silva,Norberto da; Lopes,Catalina Romero.
Eighty-one lines of cauliflower (Brassica oleracea var. botrytis) from 12 populations used to produce commercial hybrids in Brazil were screened for polymorphism in the acid phosphatase system, in order to evaluate the usefulness of this marker for the determination of the parental contamination level in hybrid seeds. Little polymorphism was detected in the examined lines, but the system appeared to be very useful for hybrid identification, since the only condition required was polymorphism between the two parental lines. If the analyzed lines were used for hybrid production, 8.4% and 12.3% of the possible crosses would result in hybrids which can be positively identified using the APS-1 and B1 loci, respectively. If only one plant of each homozygous type...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Isoenzyme; Polymorphism; Cauliflower.
Ano: 2002 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000100015
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Actin-interacting and flagellar proteins in Leishmania spp.: bioinformatics predictions to functional assignments in phagosome formation Genet. Mol. Biol.
Diniz,Michely C.; Costa,Marcília P.; Pacheco,Ana C.L.; Kamimura,Michel T.; Silva,Samara C.; Carneiro,Laura D.G.; Sousa,Ana P.L.; Soares,Carlos E.A.; Souza,Celeste S.F.; Oliveira,Diana Magalhães de.
Several motile processes are responsible for the movement of proteins into and within the flagellar membrane, but little is known about the process by which specific proteins (either actin-associated or not) are targeted to protozoan flagellar membranes. Actin is a major cytoskeleton protein, while polymerization and depolymerization of parasite actin and actin-interacting proteins (AIPs) during both processes of motility and host cell entry might be key events for successful infection. For a better understanding the eukaryotic flagellar dynamics, we have surveyed genomes, transcriptomes and proteomes of pathogenic Leishmania spp. to identify pertinent genes/proteins and to build in silico models to properly address their putative roles in trypanosomatid...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Actin-interacting proteins (AIPs); Flagellar proteins; Leishmania; Coronin and Arp2/3; Phagosome.
Ano: 2009 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000300033
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Adaptive evolution of the vertebrate skeletal muscle sodium channel Genet. Mol. Biol.
Lu,Jian; Zheng,Jianzhou; Xu,Qinggang; Chen,Keping; Zhang,Chiyu.
Tetrodotoxin (TTX) is a highly potent neurotoxin that blocks the action potential by selectively binding to voltage-gated sodium channels (Na v). The skeletal muscle Na v (Na v1.4) channels in most pufferfish species and certain North American garter snakes are resistant to TTX, whereas in most mammals they are TTX-sensitive. It still remains unclear as to whether the difference in this sensitivity among the various vertebrate species can be associated with adaptive evolution. In this study, we investigated the adaptive evolution of the vertebrate Na v1.4 channels. By means of the CODEML program of the PAML 4.3 package, the lineages of both garter snakes and pufferfishes were denoted to be under positive selection. The positively selected sites identified...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Skeletal muscle voltage-gated Na (Na v1.4) channel; Tetrodotoxin (TTX); Positive selection; Pufferfish; Garter snake.
Ano: 2011 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000200026
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Adaptive response: some underlying mechanisms and open questions Genet. Mol. Biol.
Dimova,Evgeniya G.; Bryant,Peter E.; Chankova,Stephka G..
Organisms are affected by different DNA damaging agents naturally present in the environment or released as a result of human activity. Many defense mechanisms have evolved in organisms to minimize genotoxic damage. One of them is induced radioresistance or adaptive response. The adaptive response could be considered as a nonspecific phenomenon in which exposure to minimal stress could result in increased resistance to higher levels of the same or to other types of stress some hours later. A better understanding of the molecular mechanism underlying the adaptive response may lead to an improvement of cancer treatment, risk assessment and risk management strategies, radiation protection, e.g. of astronauts during long-term space flights. In this mini-review...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Adaptive response; Oxidative stress; DNA repair up-regulation; DNA-binding proteins; Antioxidant defense system.
Ano: 2008 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000300002
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Additional value of a combined genetic risk score to standard cardiovascular stratification Genet. Mol. Biol.
Pereira,Andreia; Mendonca,Maria Isabel; Borges,Sofia; Sousa,Ana Célia; Freitas,Sónia; Henriques,Eva; Rodrigues,Mariana; Freitas,Ana Isabel; Guerra,Graça; Freitas,Carolina; Pereira,Décio; Brehm,António; Reis,Roberto Palma Dos.
Abstract The utility of genetic risk scores (GRS) as independent risk predictors remains inconclusive. Here, we evaluate the additive value of a multi-locus GRS to the Framingham risk score (FRS) in coronary artery disease (CAD) risk prediction. A total of 2888 individuals (1566 coronary patients and 1322 controls) were divided into three subgroups according to FRS. Multiplicative GRS was determined for 32 genetic variants associated to CAD. Logistic Regression and Area Under the Curve (AUC) were determined first, using the TRF for each FRS subgroup, and secondly, adding GRS. Different models (TRF, TRF+GRS) were used to classify the subjects into risk categories for the FRS 10-year predicted risk. The improvement offered by GRS was expressed as Net...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Coronary artery disease; Genetic risk score; Framingham score; Risk prediction; Risk factors.
Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000500766
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Adiponectin promoter polymorphisms are predictors of lipid profile improvement after bariatric surgery Genet. Mol. Biol.
Gasparotto,Aline Simas; Borges,Diego Olschowsky; Zandoná,Marília Remuzzi; Ramos,Mauricio Jacques; Meihnardt,Nelson Guardiola; Mattevi,Vanessa S..
Abstract Our aim was to investigate if single nucleotide polymorphisms (SNPs) located in the 5′ regions of leptin (LEP, -2548 G > A, rs7799039), resistin (RETN, -420 C > G, rs1862513) and adiponectin (ADIPOQ, -11391 G > A, rs17300539 and -11377 C > G, rs266729) genes were related to changes in body mass index (BMI) and metabolic variables after bariatric surgery in 60 extremely obese individuals. At baseline, ADIPOQ -11391 A-allele carriers showed higher plasma adiponectin and lower total cholesterol levels when compared to G/G homozygotes. Approximately 32 months post-surgery, a mean reduction of 35% in BMI and an important improvement in metabolic profiles were observed. In addition, for the ADIPOQ -11377 polymorphism, a higher decrease in...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Adiponectin; Polymorphism; Obesity; Lipid profile; Bariatric surgery.
Ano: 2017 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000500736
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ADP-ribosylation: from molecular mechanisms to human disease Genet. Mol. Biol.
Hoch,Nicolas C.; Polo,Luis M..
Abstract Post-translational modification of proteins by ADP-ribosylation, catalysed by poly (ADP-ribose) polymerases (PARPs) using NAD+ as a substrate, plays central roles in DNA damage signalling and repair, modulates a range of cellular signalling cascades and initiates programmed cell death by parthanatos. Here, we present mechanistic aspects of ADP-ribose modification, PARP activation and the cellular functions of ADP-ribose signalling, and discuss how this knowledge is uncovering therapeutic avenues for the treatment of increasingly prevalent human diseases such as cancer, ischaemic damage and neurodegeneration.
Tipo: Info:eu-repo/semantics/article Palavras-chave: ADP ribose; PARP; DNA damage response; DNA repair; Parthanatos.
Ano: 2020 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000200304
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ADRB2 polymorphisms predict the risk of myocardial infarction and coronary artery disease Genet. Mol. Biol.
Wang,Dong-Wei; Liu,Min; Wang,Ping; Zhan,Xiang; Liu,Yu-Qing; Zhao,Luo-Sha.
Abstract Recently, the rs1042713 G > A and rs1042714 C > G polymorphisms in the beta-2 adrenergic receptor (ADRB2) gene were shown to be related to atherosclerosis diseases. Therefore, we performed a systemic meta-analysis to determine whether the two functional polymorphisms are related to the risk of myocardial infarction (MI) and coronary artery disease (CAD). We identified published studies that are relevant to our topic of interest. Seven case-control studies, with a total of 6,843 subjects, were incorporated into the current meta-analysis. Our analysis showed a higher frequency of rs1042713 G > A variant in patients with MI or CAD compared to healthy controls. A similar result was also obtained with the rs1042714 C > G variant under both...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Beta-2 adrenergic receptor; Genetic polymorphism; Myocardial infarction; Coronary artery disease; Meta-analysis.
Ano: 2015 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000400433
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AFLP marker analysis revealing genetic structure of the tree Parapiptadenia rigida (Benth.) Brenan (Leguminosae-Mimosoideae) in the southern Brazilian Tropical Rainforest Genet. Mol. Biol.
Souza,Laís Bérgamo de; Ruas,Eduardo A.; Rodrigues,Luana A.; Ruas,Claudete F.; Ruas,Paulo M..
Parapiptadenia rigida is a tropical early secondary succession tree characteristic of the Tropical Atlantic Rainforest. This species is of great ecological importance in the recovery of degraded areas. In this study we investigated the variability and population genetic structure of eight populations of P. rigida. Five AFLP primer combinations were used in a sample of 159 individuals representing these eight populations, rendering a total of 126 polymorphic fragments. The averages of percentage of polymorphic loci, gene diversity, and Shannon index were 60.45%, 0.217, and 0.322, respectively. A significant correlation between the population genetic variability and the population sizes was observed. The genetic variability within populations (72.20%) was...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Tropical tree; Genetic diversity; Population genetics; Conservation; AFLP.
Ano: 2013 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572013000400012
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