Estimativa da frequência da inversão SWBinv-1 entre pais de portadores ds síndrome de Williams-Beuren e pais de filhos normais do Brasil

Pós-graduação em Ciências Biológicas (Genética) - IBB

Structure, organization, and expression of the alpha prolamin multigenic family bring new insights into the evolutionary relationships among grasses

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

Large distribution and high sequence identity of a Copia-type retrotransposon in angiosperm families

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Evolutionary dynamics of heterochromatin in the genome of Dichotomius beetles based on chromosomal analysis

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

A síndrome de Williams-Beuren: contribuições à avaliação clínica e genômica

Pós-graduação em Ciências Biológicas (Genética) - IBB

Discrimination of Shark species by simple PCR of 5S rDNA repeats

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

Genetic relatedness of Plasmodium falciparum isolates and the origin of allelic diversity at the merozoite surface protein-1 (MSP-1) locus in Brazil and Vietnam

Background: Despite the extensive polymorphism at the merozoite surface protein-1 (MSP-1) locus of Plasmodium falciparum, that encodes a major repetitive malaria vaccine candidate antigen, identical and nearly identical alleles frequently occur in sympatric parasites. Here we used microsatellite haplotyping to estimate the genetic distance between isolates carrying identical and nearly identical MSP-1 alleles. Methods: We analyzed 28 isolates from hypoendemic areas in north-western Brazil, collected between 1985 and 1998, and 23 isolates obtained in mesoendemic southern Vietnam in 1996. MSP-1 alleles were characterized by combining PCR typing with allele-specific primers and partial DNA sequencing. The following single-copy microsatellite markers were typed: Polyα, TA42 (only for Brazilian samples), TA81, TA1, TA87, TA109 (only for Brazilian samples), 2490, ARAII, PfG377, PfPK2, and TA60. Results: The low pair-wise average genetic distance between microsatellite haplotypes of isolates sharing identical MSP-1 alleles indicates that epidemic propagation of discrete parasite clones originated most identical MSP-1 alleles in parasite populations from Brazil and Vietnam. At least one epidemic clone propagating in Brazil remained relatively unchanged over more than one decade. Moreover, we found no evidence that rearrangements of MSP-1 repeats, putatively created by mitotic recombination events, generated new alleles within clonal lineages of parasites in either country. Conclusion: Identical MSP-1 alleles originated from co-ancestry in both populations, whereas nearly identical MSP-1 alleles have probably appeared independently in unrelated parasite lineages.

Comparative analysis of tandem repeats from hundreds of species reveals unique insights into centromere evolution

Background: Centromeres are essential for chromosome segregation, yet their DNA sequences evolve rapidly. In most animals and plants that have been studied, centromeres contain megabase-scale arrays of tandem repeats. Despite their importance, very little is known about the degree to which centromere tandem repeats share common properties between different species across different phyla. We used bioinformatic methods to identify high-copy tandem repeats from 282 species using publicly available genomic sequence and our own data.Results: Our methods are compatible with all current sequencing technologies. Long Pacific Biosciences sequence reads allowed us to find tandem repeat monomers up to 1,419 bp. We assumed that the most abundant tandem repeat is the centromere DNA, which was true for most species whose centromeres have been previously characterized, suggesting this is a general property of genomes. High-copy centromere tandem repeats were found in almost all animal and plant genomes, but repeat monomers were highly variable in sequence composition and length. Furthermore, phylogenetic analysis of sequence homology showed little evidence of sequence conservation beyond approximately 50 million years of divergence. We find that despite an overall lack of sequence conservation, centromere tandem repeats from diverse species showed similar modes of evolution.Conclusions: While centromere position in most eukaryotes is epigenetically determined, our results indicate that tandem repeats are highly prevalent at centromeres of both animal and plant genomes. This suggests a functional role for such repeats, perhaps in promoting concerted evolution of centromere DNA across chromosomes.

Low genetic diversity associated with low prevalence of Anaplasma marginale in water buffaloes in Marajo Island, Brazil

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Evolutionary History of the PER3 Variable Number of Tandem Repeats (VNTR): Idiosyncratic Aspect of Primate Molecular Circadian Clock

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

TACTILE CARTOGRAPHY EXPERIENCES IN BRAZIL: METHODOLOGIES AND DIDACTICAL MATERIAL WITH TECHNOLOGICAL RESOURCES FOR INCLUSION OF BLIND AND LOW VISION STUDENTS

The tactile cartography is an area of Cartography that aims the development of methodologies and didactical material to work cartographic concepts with blind and low vision people. The main aim of this article is to present the experience of Tactile Cartography Research Group from Sao Paulo State University (UNESP), including some didactical material and courses for teachers using the System MAPAVOX. The System MAPAVOX is software developed by our research group in a partnership with Federal University of Rio de Janeiro (UFRJ) that integrates maps and models with a voice synthesizer, sound emission, texts, images and video visualizing for computers. Our research methodology is based in authors that have in the students the centre of didactical activity such as Ochaita and Espinosa in [1], which developed studies related to blind children's literacy. According to Almeida the child's drawing is, thus, a system of representation. It isn't a copy of objects, but interpretation of that which is real, done by the child in graphic language[2]. In the proposed activities with blind and low vision students they are prepared to interpret reality and represent it by adopting concepts of graphic language learned. To start the cartographic initialization it is necessary to use personal and quotidian references, for example the classroom tactile model or map, to include concepts in generalization and scale concerning to their space of life. During these years many case studies were developed with blind and low vision students from Special School for Hearing Impaired and Visually Impaired in Araras and Rio Claro, Sao Paulo - Brazil. The most part of these experiences and others from Brazil and Chile are presented in [3]. Tactile material and MAPAVOX facilities are analysed by students and teachers who contribute with suggestions to reformulate and adapt them to their sensibility and necessity. Since 2005 we offer courses in Tactile Cartography to prepare teachers from elementary school in the manipulation of didactical material and attending students with special educational needs in regular classroom. There were 6 classroom and blended courses offered for 184 teachers from public schools in this region of the Sao Paulo state. As conclusion we can observe that methodological procedures centred in the blind and low vision students are successful in their spatial orientation if use didactical material from places or objects with which they have significant experience. During the applying of courses for teachers we could see that interdisciplinary groups can find creative cartographic alternatives more easily. We observed too that the best results in methodological procedures were those who provided concreteness to abstract concepts using daily experiences.