Genetic characterization of fig tree mutants with molecular markers

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

Efeito da linhagem citoplasmática sobre o peso ao nascer e o ganho médio diário na pré-desmama em bovinos da raça Caracu

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

Blepharo-cheilo-dontic (BCD) syndrome: Report on four new patients

We report on four Brazilian patients with, among other signs, cleft lip and palate, dental anomalies, ectropion of the lower eyelids, euryblepharon, and lagophthalmia, Two were sporadic cases and two were familial cases, a mother and her equally affected son, Recently, the reports with different combination of these signs were reviewed by Gorlin et al, [1996; Am J Med Genet 65:109-112] and named blepharo-cheilo-dontic (BCD) syndrome, Variable expressivity and autosomal dominant inheritance were observed. (C) 1998 Wiley-Liss, Inc.

Caracterização da resistência do algodoeiro a Ramularia areola e variabilidade molecular do patógeno

This research was conducted with the aim to study the genetic and pathogenic structure of Ramularia areola isolates collected in Brazil and to characterize the resistance response in cotton plants to ramularia spot. The genetic variability of 28 isolates of R. areola was studied using RAPD markers. The pathogenicity evaluation was realized by the inoculation of 6 isolates on cotton varieties Guazuncho-2 (Gossypium hirsutum) and VH8-4602 (Gossypium barbadense). The inheritance of disease resistance was studied using an artificially inoculated population of F2 individuals derived from the intercross of Guazuncho-2 (susceptible variety) end VH8-4602 (resistant variety), and also the parents and F1 individuals. Molecular polymorphism between the G. hisutum varieties DeltaOpal (suscetible) and CNPA CO-11612 (resistant) was estimated by 118 SSR and 24 AFLP markers. The parental genotypes Guazuncho-2 and VH8-4602 were selected for mapping, and then Recombinant Inbred Lines (RIL´s) derived from this crossing were evaluated with SSR 12 markers. The analysis of population structure of R. areola revealed that the three subpopulations were genetically simillar (Gst=0.18), and the isolates from Goiás and Minas Gerais were more similar to each other (0,92). This probability can be related to the relatively high gene flow among the three subpopulations (Nm=2.20). The isolates R. areola 9.1, from Minas Gerais State and 8.1 and 8.3 from Goiás State were the most aggressive ones to the susceptible variety Guazuncho-2. The variety VH8-4602 presented high level of resistance to ramularia spot. No differential interaction was observed between the pathogens and the analyzed varieties, and the resistance was classified as horizontal. The quantification of disease by number of necrotic lesions and number of spores in individual plants of F1 and F2 generations from the crossing between the varieties Guazuncho-2 and VH8-4602 presented continuous distribution, suggesting polygenic resistance. The resistance is probabilly recessive, since necrotic lesions and sporulation were observed on F1 plants. The molecular polymorphism between DeltaOpal e CNPA CO-11612 lineages was low (6%), then would be difficult to accomplish molecular mapping of disease resistance using this intercross. With the genotyping of the RIL s it was verified that 25% of the markers segregated in the proportions proposed by Mendel s Law and 75% of the studied markers presented segregation distortion in favor to the parental G. hirsutum. Both the low genetic variability of the pathogen and the number of resistance genes suggest that durable genetic resitance may be achieved

Ocidentalização, territórios e populações indígenas no sertão da Capitania do Rio Grande

The objective of this work is to understand some of the modifications caused for the phenomenon of the westernization in the hinterland of the Capitania do Rio Grande e in the life of the indians populations that inhabited there during the Colonial Period. We break of the quarrel of Serge Gruzinski concerning the westernization, understood while immersed phenomenon in the context of the expansion of the commercial capitalism and that, for the imposition of the culture occidental person to the alteridades of the New World, emprende the conquest of its territories, bodies and souls. The space clipping has covered the hinterland of the Capitania do Rio Grande, specifically the colonial territory of the Freguesia da Gloriosa Senhora Santa Ana do Seridó. The chosen chronological limit for the research corresponds to the Colonial Period and part of the Imperial one. However, the emphasis falls again on the period that it initiates in 1670, year of the oldest concession of would sesmaria known until the moment in the hinterland of the Rio Grande, extending itself until the decade of 1840. Sources of written by hand nature, cartographic printed and compose the used document roll: official correspondence and legislation, petitions of would sesmaria, inventories post-mortem, justifications of debt, registers of parish, maps, action civil court jurisdiction, notes of notary's office, land landmarks. We take the method, analyzed for Carlo Ginzburg, to cross these sources between itself and to detect its implied particularitities and ideas in the space between lineses, but, attributing it status to they of a colonial speech, fruit of the bureaucracy of where it was originated and of the social place of who produced it. We look for to demonstrate, throughout the work, that the phenomenon of the westernization desestruturou the aboriginal societies and its habitat, constructing, over its rubbles, a colonial territory that found in the cartography of the Freguesia de Santa Ana an efficient instrument of control of the space and the population. On the other hand, if the imposition of the culture occidental person exterminou great part of the native population that inhabited the hinterland of the Rio Grande, the remainders of these indians and the mestizos of descending them had survived in diverse ways in the freguesia: in the condition of captives of war or in regimen of servile work, as living or assistants in the farms, populations and village; rambling without route in the fields and the population spots; as mediating agents between the world occidental person and the native, exerting military or civil positions and still appealing to Justice in search of its rights of inheritance. Experiences of slavery, servitude, errância and mediation, but, also of resistance, adaptation, mestization in the Freguesia de Santa Ana

Caracterização comportamental e distribuição de neurônios inibitórios em um modelo animal de autismo induzido por ácido valpróico

Autism comprises a heterogeneous group of neurodevelopmental disorders that affects the brain maturation and produces sensorial, motor, language and social interaction deficits in early childhood. Several studies have shown a major involvement of genetic factors leading to a predisposition to autism, which are possibly affected by environmental modulators during embryonic and post-natal life. Recent studies in animal models indicate that alterations in epigenetic control during development can generate neuronal maturation disturbances and produce a hyper-excitable circuit, resulting in typical symptoms of autism. In the animal model of autism induced by valproic acid (VPA) during rat pregnancy, behavioral, electrophysiological and cellular alterations have been reported which can also be observed in patients with autism. However, only a few studies have correlated behavioral alterations with the supposed neuronal hyper-excitability in this model. The aim of this project was to generate an animal model of autism by pre-natal exposure to VPA and evaluate the early post-natal development and pre-puberal (PND30) behavior in the offspring. Furthermore, we quantified the parvalbumin-positive neuronal distribution in the medial prefrontal cortex and Purkinje cells in the cerebellum of VPA animals. Our results show that VPA treatment induced developmental alterations, which were observed in behavioral changes as compared to vehicle-treated controls. VPA animals showed clear behavioral abnormalities such as hyperlocomotion, prolonged stereotipies and reduced social interaction with an unfamiliar mate. Cellular quantification revealed a decrease in the number of parvalbumin-positive interneurons in the anterior cingulate cortex and in the prelimbic cortex of the mPFC, suggesting an excitatory/inhibitory unbalance in this animal model of autism. Moreover, we also observed that the neuronal reduction occurred mainly in the cortical layers II/III and V/VI. We did not detect any change in the density of Purkinje neurons in the Crus I region of the cerebellar cortex. Together, our results strengthens the face validity of the VPA model in rats and shed light on specific changes in the inhibitory circuitry of the prefrontal cortex in this autism model. Further studies should address the challenges to clarify particular electrophysiological correlates of the cellular alterations in order to better understand the behavioral dysfunctions

O afeto além dos muros e portões : o apego a vizinhanças na cidade do Natal

Place Attachment is a positive affective bond between people and environments, and its main characteristic is the desire to maintain closeness to the place of attachment. Neighborhoods, in turn, are spaces close to the dwelling, which varies according to environmental, social and cultural characteristics. Facing the contemporary scenario of diminishment of neighborhood relations and its importance to the understanding of cities social-environmental context, the present work aimed to investigate the attachment to neighborhoods at the city of Natal-RN. This study had two stages. The first stage consisted on investigating, through an experts panel, the main characteristics of attached neighborhoods, aspects that contributes to the development of these neighborhoods, the ones that difficult, as well as look for indications of neighborhoods at the city of Natal that may be identified by these elements. In the following stage I interviewed 11 residents of two indicated neighborhoods at the district of Alecrim, to better comprehend the main characteristics of this attachment and the elements of the context that enable its development. The content of the interviews, categorized and evaluated by judges, indicated that, due to the 10 participant experts, the main characteristics of attached neighborhoods encompass elements of socialization, cooperation, physical space usage, intimacy and identity. According to them, these are characteristics enabled by temporal and rootedness aspects, by spatial contact, familiarity between neighbors, and cultural inheritance. The interviews with residents showed that attachment to the studied neighborhoods is specially grounded on support and cooperation networks between neighbors, on satisfaction with the proximity of services, and on the bond to symbolic aspects and local traditions. In addition to be enabled by spatial organization, by low displacement of residents, and by the district s history, relations at these neighborhoods are fostered by an intention to establish this kind of ties, carried by cultural values

A newly recognized syndrome of marfanoid habitus; Long face; Hypotelorism; Long, thin nose; Long, thin hands and feet; and a specific pattern of language and learning disabilities

Here, we report on a newly recognized syndrome in a Brazilian family with three affected women, who had a Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and language and learning disabilities. The disorder is compatible with autosomal dominant inheritance. (C) 2007 Wiley-Liss, Inc.

Arcabouço geofísico, isostasia e causas do magmatismo cenozóico da província Borborema e de sua margem continental (Nordeste do Brasil)

The Borborema Province (BP) is a geologic domain located in Northeastern Brazil. The BP is limited at the south by the São Francisco craton, at the west by the Parnaíba basin, and both at the north and east by coastal sedimentary basins. Nonetheless the BP surface geology is well known, several key aspects of its evolution are still open, notably: i)its tectonic compartmentalization established after the Brasiliano orogenesis, ii) the architecture of its cretaceous continental margin, iii) the elastic properties of its lithosphere, and iv) the causes of magmatism and uplifting which occurred in the Cenozoic. In this thesis, a regional coverage of geophysical data (elevation, gravity, magnetic, geoid height, and surface wave global tomography) were integrated with surface geologic information aiming to attain a better understanding of the above questions. In the Riacho do Pontal belt and in the western sector of the Sergipano belt, the neoproterozoic suture of the collision of the Sul domain of the BP with the Sanfranciscana plate (SFP) is correlated with an expressive dipolar gravity anomaly. The positive lobule of this anomaly is due to the BP lower continental crust uplifting whilst the negative lobule is due to the supracrustal nappes overthrusting the SFP. In the eastern sector of the Sergipano belt, this dipolar gravity anomaly does not exist. However the suture still can be identified at the southern sector of the Marancó complex arc, alongside of the Porto da Folha shear zone, where the SFP N-S geophysical alignments are truncated. The boundary associated to the collision of the Ceará domain of the BP with the West African craton is also correlated with a dipolar gravity anomaly. The positive lobule of this anomaly coincides with the Sobral-Pedro II shear zone whilst the negative lobule is associated with the Santa Quitéria magmatic arc. Judging by their geophysical signatures, the major BP internal boundaries are: i)the western sector of the Pernambuco shear zone and the eastern continuation of this shear zone as the Congo shear zone, ii) the Patos shear zone, and iii) the Jaguaribe shear zone and its southwestern continuation as the Tatajuba shear zone. These boundaries divide the BP in five tectonic domains in the geophysical criteria: Sul, Transversal, Rio Grande do Norte, Ceará, and Médio Coreaú. The Sul domain is characterized by geophysical signatures associated with the BP and SFP collision. The fact that Congo shear zone is now proposed as part of the Transversal domain boundary implies an important change in the original definition of this domain. The Rio Grande do Norte domain presents a highly magnetized crust resulted from the superposition of precambrian and phanerozoic events. The Ceará domain is divided by the Senador Pompeu shear zone in two subdomains: the eastern one corresponds to the Orós-Jaguaribe belt and the western one to the Ceará-Central subdomain. The latter subdomain exhibits a positive ENE-W SW gravity anomaly which was associated to a crustal discontinuity. This discontinuity would have acted as a rampart against to the N-S Brasiliano orogenic nappes. The Médio Coreaú domain also presents a dipolar gravity anomaly. Its positive lobule is due to granulitic rocks whereas the negative one is caused by supracrustal rocks. The boundary between Médio Coreaú and Ceará domains can be traced below the Parnaíba basin sediments by its geophysical signature. The joint analysis of free air anomalies, free air admittances, and effective elastic thickness estimates (Te) revealed that the Brazilian East and Equatorial continental margins have quite different elastic properties. In the first one 10 km < Te < 20 km whereas in the second one Te ≤ 10 km. The weakness of the Equatorial margin lithosphere was caused by the cenozoic magmatism. The BP continental margin presents segmentations; some of them have inheritance from precambrian structures and domains. The segmentations conform markedly with some sedimentary basin features which are below described from south to north. The limit between Sergipe and Alagoas subbasins coincides with the suture between BP and SFP. Te estimates indicates concordantly that in Sergipe subbasin Te is around 20 km while Alagoas subbasin has Te around 10 km, thus revealing that the lithosphere in the Sergipe subbasin has a greater rigidity than the lithosphere in the Alagoas subbasin. Additionally inside the crust beneath Sergipe subbasin occurs a very dense body (underplating or crustal heritage?) which is not present in the crust beneath Alagoas subbasin. The continental margin of the Pernambuco basin (15 < Te < 25 km) presents a very distinct free air edge effect displaying two anomalies. This fact indicates the existence in the Pernambuco plateau of a relatively thick crust. In the Paraíba basin the free air edge effect is quite uniform, Te ≈ 15 km, and the lower crust is abnormally dense probably due to its alteration by a magmatic underplating in the Cenozoic. The Potiguar basin segmentation in three parts was corroborated by the Te estimates: in the Potiguar rift Te ≅ 5 km, in the Aracati platform Te ≅ 25 km, and in the Touros platform Te ≅ 10 km. The observed weakness of the lithosphere in the Potiguar rift segment is due to the high heat flux while the relatively high strength of the lithosphere in the Touros platform may be due to the existence of an archaean crust. The Ceará basin, in the region of Mundaú and Icaraí subbasins, presents a quite uniform free air edge effect and Te ranges from 10 to 15 km. The analysis of the Bouguer admittance revealed that isostasy in BP can be explained with an isostatic model where combined surface and buried loadings are present. The estimated ratio of the buried loading relative to the surface loading is equal to 15. In addition, the lower crust in BP is abnormally dense. These affirmations are particularly adequate to the northern portion of BP where adherence of the observed data to the isostatic model is quite good. Using the same above described isostatic model to calculate the coherence function, it was obtained that a single Te estimate for the entire BP must be lower than 60 km; in addition, the BP north portion has Te around 20 km. Using the conventional elastic flexural model to isostasy, an inversion of crust thickness was performed. It was identified two regions in BP where the crust is thickened: one below the Borborema plateau (associated to an uplifting in the Cenozoic) and the other one in the Ceará domain beneath the Santa Quitéria magmatic arc (a residue associated to the Brasiliano orogenesis). On the other hand, along the Cariri-Potiguar trend, the crust is thinned due to an aborted rifting in the Cretaceous. Based on the interpretation of free air anomalies, it was inferred the existence of a large magmatism in the oceanic crust surrounding the BP, in contrast with the incipient magmatism in the continent as shown by surface geology. In BP a quite important positive geoid anomaly exists. This anomaly is spatially correlated with the Borborema plateau and the Macaú-Queimadas volcanic lineament. The integrated interpretation of geoid height anomaly data, global shear velocity model, and geologic data allow to propose that and Edge Driven Convection (EDC) may have caused the Cenozoic magmatism. The EDC is an instability that presumably occurs at the boundary between thick stable lithosphere and oceanic thin lithosphere. In the BP lithosphere, the EDC mechanism would have dragged the cold lithospheric mantle into the hot asthenospheric mantle thus causing a positive density contrast that would have generated the main component of the geoid height anomaly. In addition, the compatibility of the gravity data with the isostatic model, where combined surface and buried loadings are present, together with the temporal correlation between the Cenozoic magmatism and the Borborema plateau uplifting allow to propose that this uplifting would have been caused by the buoyancy effect of a crustal root generated by a magmatic underplating in the Cenozoic

Aspectos morfo-tectônicos nos platôs de Portalegre, Martins e Santana/RN

A morpho-structural analysis was performed in the uplifted siliciclastic deposits of the Serra do Martins Formation along the Portalegre, Martins and Santana plateaux, in the southeastern and central regions of Rio Grande do Norte State. Due to the lack of biostratigraphic records, this formation has a disputable age.The adopted approach was based on the analysis of the drainage patterns and in the recognition of topographic surfaces and regional structures, subjected to neotectonic deformation and rejuvenation the present stress field. These events are recorded in the lineament arrays and as anomalous features of the landscape, such as the uplifted plateaux.The morpho-sculptural evolution of the studied blocks is expressed as erosive and accumulative processes. The former ones include erosional scarpments, cuestas and amphitheaters as the most characteristic features, while debris slopes represent acumulative examples. Such elements attest to the recent disequilibrium of the plateaux, and the absence of well developed alluvium terraces suggest an accelerated uplift process. The directions of the linear features observed in remote sensing products evidence the control of the basement structural trends, inherited from the pre-Cenozoic evolution. The NNE-SSW direction controls the main erosional features of the plateaux, while the N-S direction is a major drainage control, being also recognized in the Potiguar Basin. An E-W trend occurs as a less developed direction, reflecting either a system of mesozoic basic dykes or precambrian brittle structures. As regards to the drainage arrays, an arborescent, varying to a roughly N-S rectangular pattern, was identified in the Portalegre-Martins block. The Santana plateau displays rectilinear (northern border) and dendritic arborescent (southern border) patterns. In the sedimentary cover, the drainage pattern varies from rectangular to angular, reflecting inheritance from the crystaline basement. The most significative directions, N, NE and NW, mark the erosional fronts of the plateaux. Drainage anomalies, characterized by elbows or paralell confluencies, reinforce the arguments mentioned above. The data sets evidence the relationships between endogenous (lithology, structures) and exogenous features as the main controls of terrain dissecation, associated to vertical (epirogenesis) movements and horizontal tectonics. A final discussion addresses the relationships of the Serra do Martins Formation with the sedimentary record of Potiguar Basin, trying to establish chronostratigraphic links with the main evolutionary steps of this part of the Borborema Province, and possible mechanisms involved in the uplift of the plateaux and other stratigraphic units in the region

Expression and imprinting of insulin-like growth factor II (IGF2) and H19 genes in uterine leiomyomas

Genomic imprinting is defined as a gamete of origin-specific epigenetic modification of DNA leading to differential gene expression in the zygote. Several imprinted genes have been identified and some of them are associated with tumor development. We investigated the expression and the imprinting status of IGF2 and H19 genes in 47 uterine leiomyomas. Using allelic transcription assay, we detected the expression of the IGF2 gene in 10 of a total of 15 informative cases. No loss of imprinting, as determined by the finding of biallelic expression, was detected in any case. The expression of H19 gene was detected in 10 of 20 informative cases and the imprinting pattern was also maintained in all of them. Our data suggest that alterations in IGF2 and H19 genes expression by loss of imprinting do not occur in uterine leiomyomas. (C) 1999 Academic Press.

Clinical features associated to refractory obsessive-compulsive disorder

Some patients with obsessive-compulsive disorder (OCD) exhibit an unsatisfactory reduction in symptom severity despite being treated with all the available therapeutic alternatives. The clinical variables associated with treatment-refractoriness in OCD are inconsistently described in the literature.Methods: To investigate factors associated with treatment-reftactoriness of patients with OCD, we conducted a case-control study, comparing 23 patients with treatment-refractory OCD to 26 patients with treatment-responding OCD.Results: the factors associated with refractoriness of OCD were higher severity of symptoms since the onset of OCD (P < 0.001), chronic course (p=0.003), lack of a partner (p=0.037), unemployment (p=0.025), low economic status (p=0.015), presence of obsessive-compulsive symptoms of sexual/religious content (p=0.043), and higher scores on family accommodation (P < 0.001). Only the three latter variables remained significantly associated with treatment-reftactoriness after regression analyses. Limitations: small sample size, the biases and drawbacks inherent to a case-control study, and the inclusion criteria used to define the study groups may have limited the generalisation of the results.Conclusion: A major strength of this study is the systematic and structured evaluation of a vast array of variables related to the clinical expression of OCD, including epigenetic factors and ratings derived from instruments evaluating family accommodation. The presence of sexual/religious symptoms, low economic status and high modification on family function due to OCD were independently associated with, treatment-refractoriness. Future longitudinal studies are warranted to verify if these variables represent predictive factors of treatment non-response. (c) 2006 Elsevier B.V. All rights reserved.

Familial cancer: depressed NK-cell cytotoxicity in healthy and cancer affected members

Este estudo se reporta às funções de células natural killer (NK), como adesão, lise e citotoxicidade e de subpopulações de células T em uma família com alta prevalência de pacientes com câncer e que apresentaram: glioblastoma, leucemia mielóide crônica, osteoblastoma, melanoma e carcinomas gástrico, pancreático e cólon retal. Quinze membros dessa família foram estudados, sendo 13 sadios, acompanhados por 5 anos e dois com câncer: glioblastoma e leucemia mielóide crônica. Duas pessoas sadias, no momento da avaliação, desenvolveram posteriormente osteoblastoma mandibular ou melanoma maligno. Como controle, foram avaliados 19 indivíduos saudáveis de faixa etária equivalente. A determinação de linfócitos T CD3+ e de suas subpopulações CD4+ e CD8+ foi realizada empregando-se anticorpos monoclonais e a atividade citotóxica de células NK, avaliada pelo teste de single-cell contra células alvo da linhagem eritroleucêmica K562. Os resultados mostraram que as percentagens de células T totais (CD3+), da subpopulação CD4+ e da relação CD4/CD8 foram significativamente menores nos indivíduos da família estudada em comparação aos valores observados no grupo controle. em todos os membros dessa família a percentagem de formação de conjugados entre células NK-células alvo foi inferior ao valor mínimo observado nos controles. Essa alteração poderia estar relacionada a defeito na expressão de moléculas de adesão, presentes na membrana de células NK, como provável causa das alterações funcionais dessas células. A herança dos mecanismos determinantes desta deficiência pode ser um fator de risco, com valor prognóstico para o desenvolvimento de cancer.

Lack of genotoxicity induced by endogenous and synthetic female sex hormones in peripheral blood cells detected by alkaline Comet assay

The etiology of hormone-induced cancers has been considered to be a combination of genotoxic and epigenetic events. Currently, the Comet assay is widely used for detecting genotoxicity because it is relatively simple, sensitive, and capable of detecting various kinds of DNA damage. The present study evaluates the genotoxic potential of endogenous and synthetic sex hormones, as detected by the Comet assay. Blood cells were obtained from 12 nonsmoking and 12 smoking women with regular menstrual cycles and from 12 nonsmoking women taking low-dose oral contraceptives (OC). Peripheral blood samples were collected at three phases of the menstrual cycle (early follicular, mean follicular, and luteal phases), or at three different moments of oral contraceptive intake. Three blood samples were also collected from 12 healthy nonsmoking men, at the same time as oral contraceptive users. Results showed no significant difference in the level of DNA damage among the three moments of the menstrual cycle either in nonsmoking and smoking women, or between them. No significant difference in DNA damage was also observed among oral contraceptive users, nonusers, and men. Together, these data indicate lack of genotoxicity induced by the physiological level of the female sex hormones and OC as assessed by the alkaline Comet assay. In conclusion, normal fluctuation in endogenous sex hormones and use of low-doses of oral contraceptive should not interfere with Comet assay data when this technique is used for human biomonitoring.

DNA methylation patterns in bladder cancer and washing cell sediments: a perspective for tumor recurrence detection

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