Directional dominance on stature and cognition in diverse human populations

Homozygosity has long been associated with rare, often devastating, Mendelian disorders1, and Darwin was one of the first to recognize that inbreeding reduces evolutionary fitness2. However, the effect of the more distant parental relatedness that is common in modern human populations is less well understood. Genomic data now allow us to investigate the effects of homozygosity on traits of public health importance by observing contiguous homozygous segments (runs of homozygosity), which are inferred to be homozygous along their complete length. Given the low levels of genome-wide homozygosity prevalent in most human populations, information is required on very large numbers of people to provide sufficient power3, 4. Here we use runs of homozygosity to study 16 health-related quantitative traits in 354,224 individuals from 102 cohorts, and find statistically significant associations between summed runs of homozygosity and four complex traits: height, forced expiratory lung volume in one second, general cognitive ability and educational attainment (P < 1 × 10−300, 2.1 × 10−6, 2.5 × 10−10 and 1.8 × 10−10, respectively). In each case, increased homozygosity was associated with decreased trait value, equivalent to the offspring of first cousins being 1.2 cm shorter and having 10 months’ less education. Similar effect sizes were found across four continental groups and populations with different degrees of genome-wide homozygosity, providing evidence that homozygosity, rather than confounding, directly contributes to phenotypic variance. Contrary to earlier reports in substantially smaller samples5, 6, no evidence was seen of an influence of genome-wide homozygosity on blood pressure and low density lipoprotein cholesterol, or ten other cardio-metabolic traits. Since directional dominance is predicted for traits under directional evolutionary selection7, this study provides evidence that increased stature and cognitive function have been positively selected in human evolution, whereas many important risk factors for late-onset complex diseases may not have been.

Fast in-memory XPath search using compressed indexes

A large fraction of an XML document typically consists of text data. The XPath query language allows text search via the equal, contains, and starts-with predicates. Such predicates can be efficiently implemented using a compressed self-index of the document's text nodes. Most queries, however, contain some parts querying the text of the document, plus some parts querying the tree structure. It is therefore a challenge to choose an appropriate evaluation order for a given query, which optimally leverages the execution speeds of the text and tree indexes. Here the SXSI system is introduced. It stores the tree structure of an XML document using a bit array of opening and closing brackets plus a sequence of labels, and stores the text nodes of the document using a global compressed self-index. On top of these indexes sits an XPath query engine that is based on tree automata. The engine uses fast counting queries of the text index in order to dynamically determine whether to evaluate top-down or bottom-up with respect to the tree structure. The resulting system has several advantages over existing systems: (1) on pure tree queries (without text search) such as the XPathMark queries, the SXSI system performs on par or better than the fastest known systems MonetDB and Qizx, (2) on queries that use text search, SXSI outperforms the existing systems by 1-3 orders of magnitude (depending on the size of the result set), and (3) with respect to memory consumption, SXSI outperforms all other systems for counting-only queries.

Kulinaarinen kolmio analyysivälineenä

Tutkielman aiheena on ranskalaisen antropologin Claude Lévi-Straussin laajalti tunnettu malli, kulinaarinen kolmio, jonka Lévi-Strauss esitti alun perin primitiivistä mytologiaa käsittelevän tutkimusprojektinsa yhteydessä. Hänen mukaansa mallin avulla oli mahdollista esittää eräs tutkimuksen kohteena olevaa myyttiaineistoa jäsentävä syvärakenne. Myyttitutkimuksessaan Lévi-Strauss osoitti, että mallin avulla on mahdollista jäsentää ennen kaikkea erilaisia luonnon ja kulttuurin väliseen vastakkaisuuteen liittyviä ilmiöitä. Mallia on mahdollista käyttää myyttien ja niissä ilmenevän symbolisen ajattelun ohella myös konkreettisten ruokajärjestelmien analyysivälineenä. Mallia onkin sovellettu erilaisissa empiirisissä tutkimuksissa sekä määrättyihin empiirisiin ruokajärjestelmiin, että mitä erilaisimpiin kulttuurisiin ilmiöihin. Vaikka malli on ollut laajalti tunnettu ja synnyttänyt runsaasti keskustelua, ei siitä ole esitetty minkäänlaista systemaattista tulkintaa. Mallia koskeva keskustelu on ollut suurimmaksi osaksi kuvailevaa ja siihen kohdistetut kriittiset arviot ovat usein keskittyneet johonkin määrättyyn mallin aspektiin. Tutkielmani tehtävänä on täsmentää sitä, mistä mallissa on itse asiassa kyse ja millä tavalla Lévi-Strauss itse mallinsa mielsi. Tehtävä edellyttää mallin suhteuttamista sen taustalla olevaan teoreettiseen ja metodologiseen viitekehykseen. Tutkielmani ensimmäinen aineisto muodostuu Lévi-Straussin kulinaariseen kolmioon ja mallin taustalla olevaan viitekehykseen liittyvistä teksteistä. Erityisen keskeisiä lähteitä ovat artikkeli The Culinary Triangle ja myyttitutkimussarjan (Mythologiques) teokset. Tutkielman toisena tehtävänä on kartoittaa sitä, miten mallia on sovellettu erilaisissa empiirisissä tutkimuksissa ja millä tavalla nämä suhteutuvat Lévi-Straussin tapaan käyttää mallia ja hänen noudattamaansa tutkimusmetodologiaan. Keskityn kolmen mallia käyttävän tutkimuksen tarkastelemiseen ja erittelen sitä, millä tavalla ne suhteutuvat Lévi-Straussin tapaan käyttää mallia. Mallia soveltavat tutkimukset muodostavat opinnäytteeni toisen aineiston. Tutkielmani osoittaa, että malli on yleisestä luonteestaan johtuen altis erilaisille tulkinnoilla ja sovellusmahdollisuuksille. Tuon myös esille sen, millaisia reunaehtoja mallin soveltamiseen yleisesti liittyy ja millaisia seikkoja on otettava huomioon, kun mallia sovelletaan nyky-yhteiskuntiin. Vaikka mallia on mahdollista soveltaa hyvin erilaisiin ilmiöihin, ei sen avulla ole mahdollista käsitellä monia yhteiskuntatieteiden kannalta keskeisiä kysymyksiä.

Kulinaarinen kolmio analyysivälineenä

Tutkielman aiheena on ranskalaisen antropologin Claude Lévi-Straussin laajalti tunnettu malli, kulinaarinen kolmio, jonka Lévi-Strauss esitti alun perin primitiivistä mytologiaa käsittelevän tutkimusprojektinsa yhteydessä. Hänen mukaansa mallin avulla oli mahdollista esittää eräs tutkimuksen kohteena olevaa myyttiaineistoa jäsentävä syvärakenne. Myyttitutkimuksessaan Lévi-Strauss osoitti, että mallin avulla on mahdollista jäsentää ennen kaikkea erilaisia luonnon ja kulttuurin väliseen vastakkaisuuteen liittyviä ilmiöitä. Mallia on mahdollista käyttää myyttien ja niissä ilmenevän symbolisen ajattelun ohella myös konkreettisten ruokajärjestelmien analyysivälineenä. Mallia onkin sovellettu erilaisissa empiirisissä tutkimuksissa sekä määrättyihin empiirisiin ruokajärjestelmiin, että mitä erilaisimpiin kulttuurisiin ilmiöihin. Vaikka malli on ollut laajalti tunnettu ja synnyttänyt runsaasti keskustelua, ei siitä ole esitetty minkäänlaista systemaattista tulkintaa. Mallia koskeva keskustelu on ollut suurimmaksi osaksi kuvailevaa ja siihen kohdistetut kriittiset arviot ovat usein keskittyneet johonkin määrättyyn mallin aspektiin. Tutkielmani tehtävänä on täsmentää sitä, mistä mallissa on itse asiassa kyse ja millä tavalla Lévi-Strauss itse mallinsa mielsi. Tehtävä edellyttää mallin suhteuttamista sen taustalla olevaan teoreettiseen ja metodologiseen viitekehykseen. Tutkielmani ensimmäinen aineisto muodostuu Lévi-Straussin kulinaariseen kolmioon ja mallin taustalla olevaan viitekehykseen liittyvistä teksteistä. Erityisen keskeisiä lähteitä ovat artikkeli The Culinary Triangle ja myyttitutkimussarjan (Mythologiques) teokset. Tutkielman toisena tehtävänä on kartoittaa sitä, miten mallia on sovellettu erilaisissa empiirisissä tutkimuksissa ja millä tavalla nämä suhteutuvat Lévi-Straussin tapaan käyttää mallia ja hänen noudattamaansa tutkimusmetodologiaan. Keskityn kolmen mallia käyttävän tutkimuksen tarkastelemiseen ja erittelen sitä, millä tavalla ne suhteutuvat Lévi-Straussin tapaan käyttää mallia. Mallia soveltavat tutkimukset muodostavat opinnäytteeni toisen aineiston. Tutkielmani osoittaa, että malli on yleisestä luonteestaan johtuen altis erilaisille tulkinnoilla ja sovellusmahdollisuuksille. Tuon myös esille sen, millaisia reunaehtoja mallin soveltamiseen yleisesti liittyy ja millaisia seikkoja on otettava huomioon, kun mallia sovelletaan nyky-yhteiskuntiin. Vaikka mallia on mahdollista soveltaa hyvin erilaisiin ilmiöihin, ei sen avulla ole mahdollista käsitellä monia yhteiskuntatieteiden kannalta keskeisiä kysymyksiä.

Poetics of the Nameless Middle : Japan and the West in Philosophy and Music of the Twentieth Century

This study investigates the affinities between philosophy, aesthetics, and music of Japan and the West. The research is based on the structuralist notion (specifically, on that found in the narratology of Algirdas Julius Greimas), that the universal grammar functions as an abstract principle, underlying all kinds of discourse. The study thus aims to demonstrate how this grammar is manifested in philosophical, aesthetic, and musical texts and how the semiotic homogeneity of these texts can be explained on this basis. Totality and belongingness are the key philosophical concepts presented herein. As distinct from logocentrism manifested as substantializations of the world of ideas , god or mind, which was characteristic of previous Western paradigms, totality was defined as the coexistence of opposites. Thus Heidegger, Merleau-Ponty, Dōgen, and Nishida often illustrated it by identifying fundamental polarities, such as being and nothing, seer and seen, truth and illusion, etc. Accordingly, totality was schematically presented as an all-encompassing middle of the semiotic square. Similar values can be found in aesthetics and arts. Instead of dialectic syntagms, differentiated unity is considered as paradigmatic and the study demonstrates how this is manifested in traditional Japanese and Heideggerian aesthetics, as well as in the aspects of music of Claude Debussy and Tōru Takemitsu.

Historical considerations and evolution of the forest policies for small woodlot owners of Quebec.

XVIII IUFRO World Congress, Ljubljana 1986.

Differential transcription of multiple copies of a silk worm gene encoding tRNA

Ten different tRNAGly1 genes from the silk worm, Bombyx mori, have been cloned and characterized. These genes were transcribed in vitro in homologous nuclear extracts from the posterior silk gland (PSG) or nuclear extracts derived from the middle silk gland or ovarian tissues. Although the transcription levels were much higher in the PSG nuclear extracts, the transcriptional efficiency of the individual genes followed a similar pattern in all the extracts. Based on the levels of in vitro transcription, the ten tRNAGly1 genes could be divided into three groups, viz., those which were transcribed at very high levels (e.g., clone pR8), high to medium levels (e.g., pBmil, pBmpl, pBmhl, pBmtl) and low to barely detectable levels (e.g., pBmsl, pBmjl and pBmkl). The coding sequences of all these tRNA genes being identical, the differential transcription suggested that the flanking sequences modulate their transcriptional efficiency. The presence of positive and negative regulatory elements in the 5' flanking regions of these genes was confirmed by transcription competition experiments. A positive element was present in the immediate upstream A + T-rich sequences in all the genes, but no consensus sequences correlating to the transcriptional status could be generated. The presence of negative elements on the other hand was indicated only in some of the genes and therefore may have a role in the differential transcription of these tRNAGly genes in vivo.

Multilayer assemblies of polyelectrolyte-gold nanoparticles for the electrocatalytic oxidation and detection of arsenic(III)

Multilayers of poly(diallyldimethylammonium chloride) (PDDA) and citrate capped Au nanoparticles (AuNPs) anchored on sodium 3-mercapto-1-propanesulfonate modified gold electrode by electrostatic layer-by-layer assembly (LbL) technique are shown to be an excellent architecture for the direct electrochemical oxidation of As(III) species. The growth of successive layers in the proposed LbL architecture is followed by atomic force microscopy, UV-vis spectroscopy, quartz crystal microbalance with energy dissipation, and electrochemistry. The first bilayer is found to show rather different physico-chemical characteristics as compared to the subsequent bilayers, and this is attributed to the difference in the adsorption environments. The analytical utility of the architecture with five bilayers is exploited for arsenic sensing via the direct electrocatalytic oxidation of As(III), and the detection limit is found to be well below the WHO guidelines of 10 ppb. When the non-redox active PDDA is replaced by the redoxactive Os(2,2'-bipyridine)(2)Cl-poly(4-vinylpyridine) polyelectrolyte (PVPOs) in the LbL assembly, the performance is found to be inferior, demonstrating that the redox activity of the polyelectrolyte is futile as far as the direct electro-oxidation of As(III) is concerned. (C) 2012 Elsevier Inc. All rights reserved.

Antimony-resistant but not antimony-sensitive Leishmania donovani up-regulates host IL-10 to overexpress multidrug-resistant protein 1

The molecular mechanism of antimony-resistant Leishmania donovani ((SbLD)-L-R)-driven up-regulation of IL-10 and multidrug-resistant protein 1 (MDR1) in infected macrophages (M phi s) has been investigated. This study showed that both promastigote and amastigote forms of (SbLD)-L-R, but not the antimony-sensitive form of LD, express a unique glycan with N-acetylgalactosamine as a terminal sugar. Removal of it either by enzyme treatment or by knocking down the relevant enzyme, galactosyltransferase in (SbLD)-L-R (KD (SbLD)-L-R), compromises the ability to induce the above effects. Infection of M phi s with KD (SbLD)-L-R enhanced the sensitivity toward antimonials compared with infection with (SbLD)-L-R, and infection of BALB/c mice with KD (SbLD)-L-R caused significantly less organ parasite burden compared with infection induced by (SbLD)-L-R. The innate immune receptor, Toll-like receptor 2/6 heterodimer, is exploited by (SbLD)-L-R to activate ERK and nuclear translocation of NF-kappa B involving p50/c-Rel leading to IL-10 induction, whereas MDR1 up-regulation is mediated by PI3K/Akt and the JNK pathway. Interestingly both recombinant IL-10 and (SbLD)-L-R up-regulate MDR1 in M. with different time kinetics, where phosphorylation of PI3K was noted at 12 h and 48 h, respectively, but M phi s derived from IL-10(-/-) mice are unable to show MDR1 up-regulation on infection with (SbLD)-L-R. Thus, it is very likely that an IL-10 surge is a prerequisite for MDR1 up-regulation. The transcription factor important for IL-10-driven MDR1 up-regulation is c-Fos/c-Jun and not NF-kappa B, as evident from studies with pharmacological inhibitors and promoter mapping with deletion constructs.

Analysis of the Genome and Transcriptome of Cryptococcus neoformans var. grubii Reveals Complex RNA Expression and Microevolution Leading to Virulence Attenuation

Cryptococcus neoformans is a pathogenic basidiomycetous yeast responsible for more than 600,000 deaths each year. It occurs as two serotypes (A and D) representing two varieties (i.e. grubii and neoformans, respectively). Here, we sequenced the genome and performed an RNA-Seq-based analysis of the C. neoformans var. grubii transcriptome structure. We determined the chromosomal locations, analyzed the sequence/structural features of the centromeres, and identified origins of replication. The genome was annotated based on automated and manual curation. More than 40,000 introns populating more than 99% of the expressed genes were identified. Although most of these introns are located in the coding DNA sequences (CDS), over 2,000 introns in the untranslated regions (UTRs) were also identified. Poly(A)-containing reads were employed to locate the polyadenylation sites of more than 80% of the genes. Examination of the sequences around these sites revealed a new poly(A)-site-associated motif (AUGHAH). In addition, 1,197 miscRNAs were identified. These miscRNAs can be spliced and/or polyadenylated, but do not appear to have obvious coding capacities. Finally, this genome sequence enabled a comparative analysis of strain H99 variants obtained after laboratory passage. The spectrum of mutations identified provides insights into the genetics underlying the micro-evolution of a laboratory strain, and identifies mutations involved in stress responses, mating efficiency, and virulence.

An estimate of the number of tropical tree species

The high species richness of tropical forests has long been recognized, yet there remains substantial uncertainty regarding the actual number of tropical tree species. Using a pantropical tree inventory database from closed canopy forests, consisting of 657,630 trees belonging to 11,371 species, we use a fitted value of Fisher's alpha and an approximate pantropical stem total to estimate the minimum number of tropical forest tree species to fall between similar to 40,000 and similar to 53,000, i.e., at the high end of previous estimates. Contrary to common assumption, the Indo-Pacific region was found to be as species-rich as the Neotropics, with both regions having a minimum of similar to 19,000-25,000 tree species. Continental Africa is relatively depauperate with a minimum of similar to 4,500-6,000 tree species. Very few species are shared among the African, American, and the Indo-Pacific regions. We provide a methodological framework for estimating species richness in trees that may help refine species richness estimates of tree-dependent taxa.

Revista Cultura Económica, 2014, Año XXXII nº 88 (número completo)

Contenido: Editorial -- Artículos: El discernimiento espiritual en la toma de decisiones / Luk Bouckaert -- El redescubrimiento de la filosofía personalista de Jacques Maritain / Opdebeeck, Henrik -- Emprendedorismo guiado por la espiritualidad / Zsolnai, Laszlo -- ¿Podemos formar líderes responsables? / de Bettignies, Henri Claude -- La concepción de la sabiduría según los managers / Thompson, Mike -- Reseñas de libros

Derecho natural y ciencia jurídica : consideraciones sobre la ciencia del derecho como ciencia práctica

Resumen: En el trabajo se aborda la vexata quaestio de la cientificidad de la ciencia jurídica, a la que se le impugna la pretensión de ser científica y, a la vez, práctica. Se estudian las impugnaciones realizadas en ese sentido por Claude Lévi-Strauss y Hans Albert, así como los intentos de algunos filósofos del derecho analíticos de superarla a través del análisis lógico del lenguaje jurídico. Se analizan después los cuestionamientos efectuados por algunos representantes de la filosofía hermenéutica, que critican los ensayos analíticos y proponen una concepción interpretativa de la ciencia jurídica. Luego de esta exposición, el A. evalúa las aportaciones analíticas y hermenéuticas, poniendo de relieve sus fortalezas y sus falencias a la hora de establecer el estatuto científico de la ciencia jurídica, para pasar finalmente a proponer una concepción de la ciencia del derecho heredera de la tradición de la filosofía práctica de cuño aristotélico. En este punto, el A. desarrolla —con base en el pensamiento de Tomás de Aquino— una concepción analógica del conocimiento científico y explica de qué modo es posible aplicarla a un saber acerca del derecho que resulte, a la vez, científico y práctico. Finalmente, desenvuelve la necesidad epistémica de una apertura del conocimiento de la ciencia jurídica a los primeros principios prácticos, que la vincula constitutivamente a la doctrina de la ley natural, así como al nivel máximamente determinado de la prudencia jurídica.