Nucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism

Background: The human chromosome 8p23.1 region contains a 3.8–4.5 Mb segment which can be found in different orientations (defined as genomic inversion) among individuals. The identification of single nucleotide polymorphisms (SNPs) tightly linked to the genomic orientation of a given region should be useful to indirectly evaluate the genotypes of large genomic orientations in the individuals. Results: We have identified 16 SNPs, which are in linkage disequilibrium (LD) with the 8p23.1 inversion as detected by fluorescent in situ hybridization (FISH). The variability of the 8p23.1 orientation in 150 HapMap samples was predicted using this set of SNPs and was verified by FISH in a subset of samples. Four genes (NEIL2, MSRA, CTSB and BLK) were found differentially expressed (p<0.0005) according to the orientation of the 8p23.1 region. Finally, we have found variable levels of mosaicism for the orientation of the 8p23.1 as determined by FISH. Conclusion: By means of dense SNP genotyping of the region, haplotype-based computational analyses and FISH experiments we could infer and verify the orientation status of alleles in the 8p23.1 region by detecting two short haplotype stretches at both ends of the inverted region, which are likely the relic of the chromosome in which the original inversion occurred. Moreover, an impact of 8p23.1 inversion on gene expression levels cannot be ruled out, since four genes from this region have statistically significant different expression levels depending on the inversion status. FISH results in lymphoblastoid cell lines suggest the presence of mosaicism regarding the 8p23.1 inversion.

On the set of subrings wich are directed unions of Artinian subrings

The paper contributes to the investigation of zero-dimensional rings which can be written as a directed union of Artinian subrings. We give conditions on DU(R) in order to be nonempty.

Testing of stair climbing point-of-choice prompts in Barcelona at an outdoor set of stairs and scalators on the Montjuïc site

Regular stair climbing has well-documented health dividends, such as increased fitness and strength, weight loss and reduced body fat, improved lipid profiles and reduced risk of osteoporosis. The general absence of barriers to participation makes stair climbing an ideal physical activity (PA) for health promotion. Studies in the US and the UK have consistently shown that interventions to increase the accumulation of lifestyle PA by climbing stairs rather than using the escalators are effective. However, there are no previous in Catalonia. This project tested one message for their ability to prompt travelers on the Montjuïc site to choose the stairs rather than the escalator when climbing up the Monjuïc hill. One standard message, " Take the stairs! 7 minutes of stair climbing a day protects your heart" provided a comparison with previous research done in the UK. Translated into Catalan and Spanish, it was presented on a poster positioned at the point of choice between the stairs and the escalator. The study used a quasi-experimental, interrupted time series design. Travelers, during several and specific hours on two days of the week, were coded for stair or escalator use, gender, age, ethnic status, presence of accompanying children or bags by one observer. Overall, the intervention resulted in a 81% increase in stair climbing. In the follow-up period without messages, stair climbing dropped out to baseline levels. This preliminary study showed a significant effect on stair use. However, caution is needed since results are based on a small sample and, only a low percentage of the sample took the stairs at baseline or the intervention phase . Future research on stair use in Catalonia should focus on using bigger samples, different sites (metro stations, airports, shopping centers, etc) , different messages and techniques to promote stair climbing.

Renormalization and α-limit set for expanding Lorenz maps

We establish a one-to-one correspondence between the renormalizations and proper totally invariant closed sets (i.e., α-limit sets) of expanding Lorenz map, which enable us to distinguish periodic and non-periodic renormalizations. We describe the minimal renormalization by constructing the minimal totally invariant closed set, so that we can define the renormalization operator. Using consecutive renormalizations, we obtain complete topological characteriza- tion of α-limit sets and nonwandering set decomposition. For piecewise linear Lorenz map with slopes ≥ 1, we show that each renormalization is periodic and every proper α-limit set is countable.

A general construction of internal sheaves in algebraic set theory

We present a solution to the problem of defining a counterpart in Algebraic Set Theory of the construction of internal sheaves in Topos Theory. Our approach is general in that we consider sheaves as determined by Lawvere-Tierney coverages, rather than by Grothen-dieck coverages, and assume only a weakening of the axioms for small maps originally introduced by Joyal and Moerdijk, thus subsuming the existing topos-theoretic results.

Avaluació de set materials representatius del programa didàctic aplicat a les Escoles Bressol Municipals de Mataró dins del projecte de formació del professorat 2006/07

ii. Desprès de finalitzar el primer any d’aplicació del projecte “La música a les Escoles Bressol Municipals de Mataró”, s’inicia la present recerca, en la que participen tots els grups que formen part del projecte, amb l’objectiu de valorar-ho i veure’n la continuïtat. Es detecta que els materials emprats en la proposta didàctica són l’element que ha esdevingut més exitós fins al moment. Definint-ne una mostra de set materials, es procedeix a determinar l’ús que les educadores els atorguen en relació a la proposta didàctica i a avaluar-los

Persistent bundles over a two dimensional compact set

"Vegeu el resum a l'inici del document del fitxer adjunt."

Continuity of set-valued maps revisited in the light of tame geometry

Continuity of set-valued maps is hereby revisited: after recalling some basic concepts of variational analysis and a short description of the State-of-the-Art, we obtain as by-product two Sard type results concerning local minima of scalar and vector valued functions. Our main result though, is inscribed in the framework of tame geometry, stating that a closed-valued semialgebraic set-valued map is almost everywhere continuous (in both topological and measure-theoretic sense). The result –depending on stratification techniques– holds true in a more general setting of o-minimal (or tame) set-valued maps. Some applications are briefly discussed at the end.

On Cooperative solutions of a generalized assignment game: limit theorems to the set of competitive equilibria

We study two cooperative solutions of a market with indivisible goods modeled as a generalized assignment game: Set-wise stability and Core. We first establish that the Set-wise stable set is contained in the Core and it contains the non-empty set of competitive equilibrium payoffs. We then state and prove three limit results for replicated markets. First, the sequence of Cores of replicated markets converges to the set of competitive equilibrium payoffs when the number of replicas tends to infinity. Second, the Set-wise stable set of a two-fold replicated market already coincides with the set of competitive equilibrium payoffs. Third, for any number of replicas there is a market with a Core payoff that is not a competitive equilibrium payoff.

EU cohesion aid to Spain: a data set. Part I: 2000-06 planning period

In this paper we construct a data set on EU cohesion aid to Spain during the planning period 2000-06. The data are disaggregated by region, year and function and attempt to approximate the timing of actual executed expenditure on assisted projects.

On the stability of the optimal value and the optimal set in optimization problems

The paper develops a stability theory for the optimal value and the optimal set mapping of optimization problems posed in a Banach space. The problems considered in this paper have an arbitrary number of inequality constraints involving lower semicontinuous (not necessarily convex) functions and one closed abstract constraint set. The considered perturbations lead to problems of the same type as the nominal one (with the same space of variables and the same number of constraints), where the abstract constraint set can also be perturbed. The spaces of functions involved in the problems (objective and constraints) are equipped with the metric of the uniform convergence on the bounded sets, meanwhile in the space of closed sets we consider, coherently, the Attouch-Wets topology. The paper examines, in a unified way, the lower and upper semicontinuity of the optimal value function, and the closedness, lower and upper semicontinuity (in the sense of Berge) of the optimal set mapping. This paper can be seen as a second part of the stability theory presented in [17], where we studied the stability of the feasible set mapping (completed here with the analysis of the Lipschitz-like property).

Generalized descriptive set theory and classification theory

Descriptive set theory is mainly concerned with studying subsets of the space of all countable binary sequences. In this paper we study the generalization where countable is replaced by uncountable. We explore properties of generalized Baire and Cantor spaces, equivalence relations and their Borel reducibility. The study shows that the descriptive set theory looks very different in this generalized setting compared to the classical, countable case. We also draw the connection between the stability theoretic complexity of first-order theories and the descriptive set theoretic complexity of their isomorphism relations. Our results suggest that Borel reducibility on uncountable structures is a model theoretically natural way to compare the complexity of isomorphism relations.

Genomics of wine yeast: functional analysis of new and variable genes

Projecte de recerca elaborat a partir d’una estada a l’Institut National de la Recherche Agronomique, França, entre 2007 i 2009. Saccharomyces cerevisiae ha estat el llevat utilitzat durant mil.lenis en l'elaboració de vins. Tot i així, es té poc coneixement sobre les pressions de selecció que han actuat en la modelització del genoma dels llevats vínics. S’ha seqüenciat el genoma d'una soca vínica comercial, EC1118, obtenint 31 supercontigs que cobreixen el 97% del genoma de la soca de referència, S288c. S’ha trobat que el genoma de la soca vínica es diferencia bàsicament en la possessió de 3 regions úniques que contenen 34 gens implicats en funcions claus per al procés fermentatiu. A banda, s’han dut a terme estudis de filogènia i synteny (ordre dels gens) que mostren que una d'aquestes tres regions és pròxima a una espècie relacionada amb el gènere Saccharomyces, mentre que les altres dos regions tenen un origen no-Saccharomyces. S’ha identificat mitjançant PCR i seqüenciació a Zygosaccharomyces bailii, una espècie contaminant de les fermentacions víniques, com a espècie donadora d'una de les dues regions. Les hibridacions naturals entre soques de diferents espècies dins del grup Saccharomyces sensu stricto ja han estat descrites. El treball és el primer que presenta hibridacions entre espècies Saccharomyces i no-Saccharomyces (Z. bailii, en aquest cas). També s’assenyala que les noves regions es troben freqüent i diferencialment presents entre els clades de S. cerevisiae, trobant-se de manera gairebé exclusiva en el grup de les soques víniques, suggerint que es tracta d'una adquisició recent de transferència gènica. En general, les dades demostren que el genoma de les soques víniques pateix una constant remodelació mitjançant l'adquisició de gens exògens. Els resultats suggereixen que aquests processos estan afavorits per la proximitat ecològica i estan implicats en l'adaptació molecular de les soques víniques a les condicions d'elevada concentració en sucres, poc nitrogen i elevades concentracions en etanol.