Mitochondrial Inheritance, Mito-nuclear Coevolution, and Sex-associated Genes in Bivalve Molluscs: Transcriptomics and Molecular Evolution

Bivalvia represents an ancient taxon including around 25,000 living species that have adapted to a wide range of environmental conditions, and show a great diversity in body size, shell shapes, and anatomic structure. Bivalves are characterized by highly variable genome sizes and extremely high levels of heterozygosity, which obstacle complete and accurate genome assemblies and hinder further genomic studies. Moreover, some bivalve species presented a stable evolutionary exception to the strictly maternal inheritance of mitochondria, namely doubly uniparental inheritance (DUI), making these species a precious model to study mitochondrial biology. During my PhD, I focused on a DUI species, the Manila clam Ruditapes philippinarum, and my work was two-folded. First, taking advantage of a newly assembled draft genome and a large RNA-seq dataset from different tissues of both sexes, I investigated 1) the role of gene expression and alternative splicing in tissue differentiation; 2) the relationship across tissue specificity, regulatory network connectivity, and sequence evolution; 3) sexual contrasting genetic markers potentially associated with sexual differentiation. The detailed information for this part is in Chapter 2. Second, using the same RNA-seq data, I investigated how nuclear oxidative phosphorylation (OXPHOS) genes coordinate with two divergent mitochondrial genomes in DUI species (mito-nuclear coordination and coevolution). To address this question, I compared transcription, polymorphism, and synonymous codon usage in the mitochondrial and nuclear OXPHOS genes of R. philippinarum in Chapter 3. To my knowledge, this thesis represents the first study exploring the role of alternative splicing in tissue differentiation, and the first study analyzing both transcriptional regulation and sequence evolution to investigate the coordination of OXPHOS genes in bivalves.

Versões do "progresso": a modernização como tema e problema do fotógrafo Militão Augusto de Azevedo

O artigo centra-se no legado de Militão Augusto de Azevedo (1837-1905), com o objetivo de desvendar as diferentes maneiras como esse fotógrafo representou o processo de modernização ocorrido nas últimas décadas do século XIX no Brasil e, especialmente, em São Paulo. A análise dos documentos de Militão - fotografias, cartas e um Índice das fotografias de antigos paulistas - configura uma multiplicidade de significados a respeito das transformações ocorridas na cidade de São Paulo a partir da década de 1860, e na política brasileira após a Proclamação da República. As observações da personagem a respeito de seu mundo em mudança asseveram que, menos do que coladas apenas ao "progresso", as representações do fotógrafo formam um amálgama de temporalidades desencontradas, que se imbricam e tensionam-se.

QTL mapping for reaction to Phaeosphaeria leaf spot in a tropical maize population

Phaeosphaeria leaf spot (PLS) is an important disease in tropical and subtropical maize (Zea mays, L.) growing areas, but there is limited information on its inheritance. Thus, this research was conducted to study the inheritance of the PLS disease in tropical maize by using QTL mapping and to assess the feasibility of using marker-assisted selection aimed to develop genotypes resistance to this disease. Highly susceptible L14-04B and highly resistant L08-05F inbred lines were crossed to develop an F(2) population. Two-hundred and fifty six F(2) plants were genotyped with 143 microsatellite markers and their F(2:3) progenies were evaluated at seven environments. Ten plants per plot were evaluated 30 days after silk emergence following a rating scale, and the plot means were used for analyses. The heritability coefficient on a progeny mean basis was high (91.37%), and six QTL were mapped, with one QTL on chromosomes 1, 3, 4, and 6, and two QTL on chromosome 8. The gene action of the QTL ranged from additive to partial dominance, and the average level of dominance was partial dominance; also a dominance x dominance epistatic effect was detected between the QTL mapped on chromosome 8. The phenotypic variance explained by each QTL ranged from 2.91 to 11.86%, and the joint QTL effects explained 41.62% of the phenotypic variance. The alleles conditioning resistance to PLS disease of all mapped QTL were in the resistant parental inbred L08-05F. Thus, these alleles could be transferred to other elite maize inbreds by marker-assisted backcross selection to develop hybrids resistant to PLS disease.

Childhood absence epilepsy and febrile seizures: A family with a GABAA receptor mutation

Although several genes for idiopathic epilepsies from families with simple Mendelian inheritance have been found, genes for the common idiopathic generalized epilepsies, where inheritance is complex, presently are elusive. We studied a large family with epilepsy where the two main phenotypes were childhood absence epilepsy (CAE) and febrile seizures (FS), which offered a special opportunity to identify epilepsy genes. A total of 35 family members had seizures over four generations. The phenotypes comprised typical CAE (eight individuals); FS alone (15), febrile seizures plus (FS+) (three); myoclonic astatic epilepsy (two); generalized epilepsy with tonic-clonic seizures alone (one); partial epilepsy (one); and unclassified epilepsy despite evaluation (two). In three remaining individuals, no information was available. FS were inherited in an autosomal dominant fashion with 75% penetrance. The inheritance of CAE in this family was not simple Mendelian, but suggestive of complex inheritance with the involvement of at least two genes. A GABA(A) receptor gamma2 subunit gene mutation on chromosome 5 segregated with FS, FS+ and CAE, and also occurred in individuals with the other phenotypes. The clinical and molecular data suggest that the GABA(A) receptor subunit mutation alone can account for the FS phenotype. An interaction of this gene with another gene or genes is required for the CAE phenotype in this family. Linkage analysis for a putative second gene contributing to the CAE phenotype suggested possible loci on chromosomes 10, 13, 14 and 15. Examination of these loci in other absence pedigrees is warranted.

Familial hyperaldosteronism

Primary aldosteronism (PAL) may be as much as ten times more common than has been traditionally thought, with most patients normokalemic. The study of familial varieties has facilitated a fuller appreciation of the nature and diversity of its clinical, biochemical, morphological and molecular aspects. In familial hyperaldosteronism type I (FH-I), glucocorticoid-remediable PAL is caused by inheritance of an ACTH-regulated, hybrid CYP11B1/CYP11B2 gene. Genetic testing has greatly facilitated diagnosis. Hypertension severity varies widely, demonstrating relationships with gender, affected parent's gender, urinary kallikrein level, degree of biochemical disturbance and hybrid gene crossover point position. Analyses of aldosterone/PRA/cortisol 'day-curves' have revealed that (1) the hybrid gene dominates over wild type CYP11B2 in terms of aldosterone regulation and (2) correction of hypertension in FH-I requires only partial suppression of ACTH, and much smaller glucocorticoid doses than those previously recommended. Familial hyperaldosteronism type II is not glucocorticoid-remediable, and is clinically, biochemically and morphologically indistinguishable from apparently sporadic PAL. In one informative family available for linkage analysis, FH-II does not segregate with either the CYP11B2, AT1 or MEN1 genes, but a genome-wide search has revealed linkage with a locus in chromosome 7. As has already occurred in FH-I, elucidation of causative mutations is likely to facilitate earlier detection of PAL and other curable or specifically treatable forms of hypertension. (C) 2001 Elsevier Science Ltd. All rights reserved.

Biometrical Genetics

Biometrical genetics is the science concerned with the inheritance of quantitative traits. In this review we discuss how the analytical methods of biometrical genetics are based upon simple Mendelian principles. We demonstrate how the phenotypic covariance between related individuals provides information on the relative importance of genetic and environmental factors influencing that trait, and how factors such as assortative mating, gene-environment correlation and genotype-environment interaction complicate such interpretations. Twin and adoption studies are discussed as well as their assumptions and limitations. Structural equation modeling (SEM) is introduced and we illustrate how this approach may be applied to genetic problems. In particular, we show how SEM can be used to address complicated issues such as analyzing the causes of correlation between traits or determining the direction of causation (DOC) between variables. (C) 2002 Elsevier Science B.V. All rights reserved.

Peanut resistance to Sclerotinia minor and S-sclerotiorum

The fungi Sclerotinia minor and S. sclerotiorum are the causal agents of two similar diseases of peanut (Arachis hypogaea L.). Both diseases cause significant losses in the Australian peanut industry. Development of cultivars with resistance to Sclerotinia will be an important component of integrated control. The aims of this project are to generate information that will assist in breeding for Sclerotinia resistance in peanut: to identify Sclerotinia-resistant peanut germplasm, to understand the inheritance and estimate heritability of resistance, and to test the effectiveness of identified sources of resistance against both S. minor and S. sclerotiorum. This study has clearly established that material that shows resistance to S. minor in the USA is resistant to S. minor and likely to be resistant to S. sclerotiorum in Australia. The high level of resistance to both S. minor and S. sclerotiorum in germplasm from Texas, particularly TxAG-4, was confirmed. VA 93B showed good resistance in the field, which is primarily due to the open bush type rather than physiological resistance. Physiological resistance to S. minor was also identified in a cultivar and a landrace from Indonesia and a rust-resistant line from Queensland. All germplasm found to have high physiological resistance to S. minor belonged to the Spanish type. Inheritance of physiological resistance to S. minor was studied using a Generation Means Analysis (GMA) of the cross TxAG-4/VA 93B and its reciprocal. The broad-sense heritability of physiological resistance on a single plant basis was estimated at 47%, much higher than earlier estimates obtained in field studies. The average gene action of Sclerotinia resistance genes from TxAG-4 was found to be additive. No dominance effects were detected in the GMA. A small but significant reciprocal effect between TxAG-4 and VA 93B indicated that VA 93B passed on some physiological resistance maternally. An experiment was conducted to confirm the value of resistance against both S. minor and S. sclerotiorum. TxAG-4 was found to have physiological resistance to both S. minor and S. sclerotiorum. This resistance was expressed against both Sclerotinia species by progeny that were selected for resistance to S. minor. On the basis of the information obtained, the comparative advantages of 3 strategies for Sclerotinia-resistant cultivar development are discussed: (1) introduction of germplasm; (2) recurrent backcrossing with screening and crossing in the BCnF1 generation; and (3) pedigree selection. At present, introduction and backcrossing are recommended as the preferred strategies.

Desenvolvimento sustent??vel: o desafio da admininstra????o p??blica brasileira nas dimens??es da relev??ncia social, da prud??ncia ecol??gica e da viabilidade econ??mica

Partindo do conceito de bem-estar social, definido em lei como de responsabilidade da administra????o p??blica, especialmente no que diz respeito ?? preserva????o dos recursos naturais para a manuten????o da decente qualidade de vida dos cidad??os, o artigo foi estruturado a partir do relat??rio de pesquisa de inicia????o cient??fica financiada pela Funda????o de Amparo ?? Pesquisa do Estado de S??o Paulo (Fapesp) e desenvolvido na Universidade Estadual de S??o Paulo (Unesp). Tal relat??rio objetivou investigar os par??metros de regularidade da administra????o p??blica, analisando-se a jurisprud??ncia dos tribunais. Foram evidenciadas irregularidades na atua????o da administra????o p??blica, constatando a desarticula????o da gest??o p??blica ao gerir as tr??s dimens??es que definem o desenvolvimento sustent??vel: a relev??ncia social, a viabilidade econ??mica e a prud??ncia ecol??gica. Foi poss??vel constatar com esta pesquisa que a administra????o p??blica brasileira d?? mais import??ncia para a quest??o econ??mica que ??s quest??es sociais e ambientais. Pudemos perceber que enquanto o meio ambiente ?? degradado e a sociedade prejudicada com a piora da qualidade de vida, o econ??mico vem sendo privilegiado constantemente. Sendo assim, evidenciaremos esse descaso propondo algumas mudan??as para a melhora da gest??o das tr??s dimens??es do desenvolvimento sustent??vel; por??m, em contrapartida, mostraremos a seriedade na atua????o dos ??rg??os colegiados ambientais e institui????es do poder p??blico, tais como o Minist??rio P??blico, que hoje atuam em parceria com a popula????o, crescentemente envolvida no processo mediante a pr??tica de den??ncias e reclama????es.

Approximate entropy normalized measures for analyzing social neurobiological systems

When considering time series data of variables describing agent interactions in social neurobiological systems, measures of regularity can provide a global understanding of such system behaviors. Approximate entropy (ApEn) was introduced as a nonlinear measure to assess the complexity of a system behavior by quantifying the regularity of the generated time series. However, ApEn is not reliable when assessing and comparing the regularity of data series with short or inconsistent lengths, which often occur in studies of social neurobiological systems, particularly in dyadic human movement systems. Here, the authors present two normalized, nonmodified measures of regularity derived from the original ApEn, which are less dependent on time series length. The validity of the suggested measures was tested in well-established series (random and sine) prior to their empirical application, describing the dyadic behavior of athletes in team games. The authors consider one of the ApEn normalized measures to generate the 95th percentile envelopes that can be used to test whether a particular social neurobiological system is highly complex (i.e., generates highly unpredictable time series). Results demonstrated that suggested measures may be considered as valid instruments for measuring and comparing complexity in systems that produce time series with inconsistent lengths.

Laboratório de criação a partir de Macbeth de William Shakespeare: relatório de estágio

Relatório de Estágio submetido à Escola Superior de Teatro e Cinema para cumprimento dos requisitos necessários à obtenção do grau de Mestre em Teatro - especialização em Encenação.

Градобитие на территории Грузии

По материалам наблюдений 50 метеорологических станций Грузии за период 1961–2012 годы исследованы число дней с градом, периоды его выпадения, интенсивность, продолжительность, количество, изменчивость и ареалы градобитий. Разработаны классификация интенсивности и геоинформационная карта числа градобития. Полученные результаты будут использованы при возобновлении работ борьбы с градом.

Raça em formação de galinhas de plumagem azul e ovos azuis

This paper deals with the inheritance of black, blue and blue-splashed plumage in poultry. The material analysed had its origin in the State of Goias, Brazil and the genetical data seems to indicate the interaction of a single pair of genes as in the Andalusian fowls and other blue breeds. The dominant gene for blue egg is also present in the material and selection is now being directed to isolate a breed with blue plumage and blue eggs, named "Tudo Azul", what in Portuguese means all blue (plumage and eggs) and corresponds, in braziliian slang, to the expression "O. K." used in the United States. The commercial possibility of the chickens, as judging by its, laying capacity, is emphasized.

Raça em formação de galinhas de plumagem azul e ovos azuis - II. Teste de cruzamento

The data reported in this paper are in accordance with the hypothesis previously established (2) of the interaction of a main pair of alleles as controlling the inheritance of black, blue and blue-splashed plumage in chickens received from the State of Goias, Brazil. The black plumage is relatively uniform but the blue and blue splashed plumages indicate the action of other genes regulating the lack of uniformity.

KAM theory for conformally symplectic systems

We present a KAM theory for some dissipative systems (geometrically, these are conformally symplectic systems, i.e. systems that transform a symplectic form into a multiple of itself). For systems with n degrees of freedom depending on n parameters we show that it is possible to find solutions with n-dimensional (Diophantine) frequencies by adjusting the parameters. We do not assume that the system is close to integrable, but we use an a-posteriori format. Our unknowns are a parameterization of the solution and a parameter. We show that if there is a sufficiently approximate solution of the invariance equation, which also satisfies some explicit non–degeneracy conditions, then there is a true solution nearby. We present results both in Sobolev norms and in analytic norms. The a–posteriori format has several consequences: A) smooth dependence on the parameters, including the singular limit of zero dissipation; B) estimates on the measure of parameters covered by quasi–periodic solutions; C) convergence of perturbative expansions in analytic systems; D) bootstrap of regularity (i.e., that all tori which are smooth enough are analytic if the map is analytic); E) a numerically efficient criterion for the break–down of the quasi–periodic solutions. The proof is based on an iterative quadratically convergent method and on suitable estimates on the (analytical and Sobolev) norms of the approximate solution. The iterative step takes advantage of some geometric identities, which give a very useful coordinate system in the neighborhood of invariant (or approximately invariant) tori. This system of coordinates has several other uses: A) it shows that for dissipative conformally symplectic systems the quasi–periodic solutions are attractors, B) it leads to efficient algorithms, which have been implemented elsewhere. Details of the proof are given mainly for maps, but we also explain the slight modifications needed for flows and we devote the appendix to present explicit algorithms for flows.

2q34-qter duplication and 4q34.2-qter deletion in a patient with developmental delay.

The 2q3 duplication and 4q3 deletion syndromes are two conditions with variable phenotypes including Pierre-Robin sequence (PRS), limb anomalies, congenital heart defects (CHD), developmental delays and intellectual disabilities. We describe a patient born to a mother with a balanced t(2; 4) translocation who combines both a 2q34-qter duplication and a 4q34.2-qter deletion through inheritance of the derivative chromosome 4 (der(4)). He showed developmental delay, growth retardation, hearing problems, minor facial and non-facial anomalies, such as bilateral fifth finger shortness and clinodactyly, but no PRS or CHD. The comparison of his features with those of 46 and 65 published cases of 2q3 duplication and 4q3 deletion, respectively, allows us to further restrict the size of the proposed critical intervals for PRS and CHD on chromosome 4.