41 resultados para Founder

em Repositório Institucional UNESP - Universidade Estadual Paulista "Julio de Mesquita Filho"


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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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The Richieri-Costa-Pereira syndrome is a rare autosomal recessive disorder characterized by short stature, Robin sequence, cleft mandible, pre/postaxial anomalies and clubfoot. of 15 families reported with this disorder 14 are from Brazil suggesting a founder effect. We studied 15 families using identity-by-descent as a hypothesis to attempt gene localization We have examined through linkage analysis 497 polymorphicmarkers and also performed direct sequencing of exons for 10 candidate genes selected on the basis of their expression in the developing mandible and limb. No evidence for allele sharing at any locus tested or mutations in candidate genes was found. Additional higher resolution mapping, new families and other candidate genes might improve future chances of gene identification. (C) 2003 Wiley-Liss, Inc.

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Existem mais de 200 raças de milho (Zea mays L.), as quais são divididas em três grupos (raças comerciais antigas, raças comerciais recentes e raças indígenas). As raças indígenas, embora não tenham valor comercial, possuem muitas características importantes que podem ser utilizadas em programas de melhoramento de milho. A maior parte do germoplasma brasileiro das raças de milho indígena foi coletada, no mínimo, 40 anos atrás e nada é conhecido sobre a variabilidade presente neste germoplasma. Quinze populações de 4 raças indígenas de milho (Caingang, Entrelaçado, Lenha e Moroti) e 5 cultivares indígenas foram analisados utilizando-se 5 sistemas isoenzimáticos codificados por 14 locos. A análise revelou um baixo nível de variabilidade entre as amostras estudadas. O número médio de alelos/loco foi três, com 64,3% de locos polimórficos e uma heterozigosidade média esperada de 0,352. Por população, a média de número de alelos por loco polimórfico foi 1,6, em média 47,5% dos locos foram polimórficos e a heterozigosidade média foi 0,195. A distância genética média entre as populações foi 0,821 e a proporção da variabilidade genética, que é atribuída ao componente entre populações (Gst), foi 0,156. Os dados sugerem que um efeito de fundador poderia explicar a baixa variabilidade detectada.

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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

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A series of experiments was performed to assess possible roles of the honey bee Dufour gland secretion. Bioassays with extracts of queen and worker glands from two colonies were made under artificial conditions, in which nestmate and non-nestmate forager workers were tested. The results demonstrate that forager workers display behavioral responses when exposed to Dufour gland extracts of nestmates, but remain indifferent when exposed to non-nestmate extracts. Also, the results demonstrate that forager workers are attracted by virgin queen gland extracts, and repelled by forager worker extracts. The data demonstrate that the Dufour gland secretion is colony- and caste-specific. The attractant remains in the nest. The repellent effect of forager worker extracts is interpreted as an alarm-like pheromone. The attractant effect of virgin queen extracts could be useful in the swarming process to attract scout bees to the eventual founder virgin queen or to attract old foragers to the virgin queen that remains in the nest.

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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

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Piper cernuum is a native plant of the Brazilian Atlantic rain forest. This work studies the distribution of allozyme diversity in P. cernuum natural populations in order to establish a strategy for sustainable management and conservation. Leaf samples were collected in two Brazilian states. High divergences among populations (F-SR = 0.380) and low divergences among regions (F-RT = -0.069) and among gaps of the same population (F-GT = 0.062) were found. No association between the geographical variation and the genetic distance was detected. An excess of heterozygotes was detected in the populations (F-IS = -0.170), suggesting selection in favor of heterozygotes. The results, and the fact that the species depends on constant gap formation for maintenance of its dynamism, suggest that the founder effect is largely responsible for the structuring of populations. For sustainable management, the maintenance of plants/reproductive branches in the gaps is of major importance. The genotypes produced in these gaps are responsible for the establishment of new gaps and are the foundation for new populations, maintaining the dynamics of allele movement.

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Due to the exclusively maternal inheritance of mitochondria, mitochondrial genotypes can be coupled to a particular nuclear genotype by continuous mating of founder females and their female offspring to males of the desired nuclear genotype. However, backcrossing is a gradual procedure that, apart from being lengthy, cannot ascertain that genetic and epigenetic changes will modify the original nuclear genotype. Animal cloning by nuclear transfer using host ooplasm carrying polymorphic mitochondrial genomes allows, among other biotechnology applications, the coupling of nuclear and mitochondrial genotypes of diverse origin within a single generation. Previous attempts to use Bos taurus oocytes as hosts to transfer nuclei from unrelated species led to the development to the blastocyst stage but none supported gestation to term. Our aim in this study was to determine whether B. taurus oocytes support development of nuclei from the closely related B. indicus cattle and to examine the fate of their mitochondrial genotypes throughout development. We show that indicus:taurus reconstructed oocytes develop to the blastocyst stage and produce live offspring after transfer to surrogate cows. We also demonstrate that, in reconstructed embryos, donor cell-derived mitochondria undergo a stringent genetic drift during early development leading, in most cases, to a reduction or complete elimination of B. indicus mtDNA. These results demonstrate that cross-subspecies animal cloning is a viable approach both for matching diverse nuclear and cytoplasmic genes to create novel breeds of cattle and for rescuing closely related endangered cattle.

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Aicardi-Goutières syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations identified in genes encoding the 3′→5′ exonuclease TREX1 and the three subunits of the RNASEH2 endonuclease complex. To define the molecular spectrum of AGS, we performed mutation screening in patients, from 127 pedigrees, with a clinical diagnosis of the disease. Biallelic mutations in TREX1, RNASEH2A, RNASEH2B, and RNASEH2C were observed in 31, 3, 47, and 18 families, respectively. In five families, we identified an RNASEH2A or RNASEH2B mutation on one allele only. In one child, the disease occurred because of a de novo heterozygous TREX1 mutation. In 22 families, no mutations were found. Null mutations were common in TREX1, although a specific missense mutation was observed frequently in patients from northern Europe. Almost all mutations in RNASEH2A, RNASEH2B, and RNASEH2C were missense. We identified an RNASEH2C founder mutation in 13 Pakistani families. We also collected clinical data from 123 mutation-positive patients. Two clinical presentations could be delineated: an early-onset neonatal form, highly reminiscent of congenital infection seen particularly with TREX1 mutations, and a later-onset presentation, sometimes occurring after several months of normal development and occasionally associated with remarkably preserved neurological function, most frequently due to RNASEH2B mutations. Mortality was correlated with genotype; 34.3% of patients with TREX1, RNASEH2A, and RNASEH2C mutations versus 8.0% RNASEH2B mutation-positive patients were known to have died (P = .001). Our analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder. Additionally, our data indicate that at least one further AGS-causing gene remains to be identified. © 2007 by The American Society of Human Genetics. All rights reserved.

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Four species of green lacewings occur in Brazil, of which Chrysoperla externa (Hagen) (Neuroptera: Chrysopidae) exhibits the widest geographical distribution. Chrysoperla externa is a predatory insect that is potentially useful as a biological control agent of agricultural pests. Studies on the genetic diversity of lacewing populations are essential to reduce the environmental and economic harm that may be caused by organisms with a low ability to adapt to the adverse and/or different environmental conditions to which they are exposed. We used the cytochrome oxidase I mitochondrial gene as a molecular marker to investigate the genetic diversity of green lacewing species collected from native and agroecosystem environments. Populations derived from native areas showed higher rates of genetic variability compared to populations from agroecosystems. Demographic changes in the form of population expansion were observed in agroecosystems, whereas populations in the native environment appeared stable over time. A statistical analysis showed significant genetic structure between each of the sampled groups, combined with its complete absence within each group, corroborating each group's identity. We infer that the loss of variability exhibited by populations from the agroecosystems is the result of genetic drift by means of the founder effect, a similar effect that has been observed in other introduced populations. Agroecosystems might therefore function as exotic areas for green lacewings, even when these areas are within the normal range of the species. © 2012 Sociedade Entomológica do Brasil.

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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

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Pós-graduação em Ciências Sociais - FCLAR

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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Pós-graduação em Educação - FCT