The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild

BACKGROUND: The only known albino gorilla, named Snowflake, was a male wild born individual from Equatorial Guinea who lived at the Barcelona Zoo for almost 40 years. He was diagnosed with non-syndromic oculocutaneous albinism, i.e. white hair, light eyes, pink skin, photophobia and reduced visual acuity. Despite previous efforts to explain the genetic cause, this is still unknown. Here, we study the genetic cause of his albinism and making use of whole genome sequencing data we find a higher inbreeding coefficient compared to other gorillas.RESULTS: We successfully identified the causal genetic variant for Snowflake's albinism, a non-synonymous single nucleotide variant located in a transmembrane region of SLC45A2. This transporter is known to be involved in oculocutaneous albinism type 4 (OCA4) in humans. We provide experimental evidence that shows that this amino acid replacement alters the membrane spanning capability of this transmembrane region. Finally, we provide a comprehensive study of genome-wide patterns of autozygogosity revealing that Snowflake's parents were related, being this the first report of inbreeding in a wild born Western lowland gorilla.CONCLUSIONS: In this study we demonstrate how the use of whole genome sequencing can be extended to link genotype and phenotype in non-model organisms and it can be a powerful tool in conservation genetics (e.g., inbreeding and genetic diversity) with the expected decrease in sequencing cost.

Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee

Structural variation has played an important role in the evolutionary restructuring of human and great ape genomes. Recent analyses have suggested that the genomes of chimpanzee and human have been particularly enriched for this form of genetic variation. Here, we set out to assess the extent of structural variation in the gorilla lineage by generating 10-fold genomic sequence coverage from a western lowland gorilla and integrating these data into a physical and cytogenetic framework of structural variation. We discovered and validated over 7665 structural changes within the gorilla lineage, including sequence resolution of inversions, deletions, duplications, and mobile element insertions. A comparison with human and other ape genomes shows that the gorilla genome has been subjected to the highest rate of segmental duplication. We show that both the gorilla and chimpanzee genomes have experienced independent yet convergent patterns of structural mutation that have not occurred in humans, including the formation of subtelomeric heterochromatic caps, the hyperexpansion of segmental duplications, and bursts of retroviral integrations. Our analysis suggests that the chimpanzee and gorilla genomes are structurally more derived than either orangutan or human genomes.

Sequencing human-gibbon breakpoints of synteny reveals mosaic new insertions at rearrangement sites

The gibbon genome exhibits extensive karyotypic diversity with an increased rate of chromosomal rearrangements during evolution. In an effort to understand the mechanistic origin and implications of these rearrangement events, we sequenced 24 synteny breakpoint regions in the white-cheeked gibbon (Nomascus leucogenys, NLE) in the form of high-quality BAC insert sequences (4.2 Mbp). While there is a significant deficit of breakpoints in genes, we identified seven human gene structures involved in signaling pathways (DEPDC4, GNG10), phospholipid metabolism (ENPP5, PLSCR2), beta-oxidation (ECH1), cellular structure and transport (HEATR4), and transcription (ZNF461), that have been disrupted in the NLE gibbon lineage. Notably, only three of these genes show the expected evolutionary signatures of pseudogenization. Sequence analysis of the breakpoints suggested both nonclassical nonhomologous end-joining (NHEJ) and replication-based mechanisms of rearrangement. A substantial number (11/24) of human-NLE gibbon breakpoints showed new insertions of gibbon-specific repeats and mosaic structures formed from disparate sequences including segmental duplications, LINE, SINE, and LTR elements. Analysis of these sites provides a model for a replication-dependent repair mechanism for double-strand breaks (DSBs) at rearrangement sites and insights into the structure and formation of primate segmental duplications at sites of genomic rearrangements during evolution.

The origins and impact of primate segmental duplications

Duplicated sequences are substrates for the emergence of new genes and are an important source of genetic instability associated with rare and common diseases. Analyses of primate genomes have shown an increase in the proportion of interspersed segmental duplications (SDs) within the genomes of humans and great apes. This contrasts with other mammalian genomes that seem to have their recently duplicated sequences organized in a tandem configuration. In this review, we focus on the mechanistic origin and impact of this difference with respect to evolution, genetic diversity and primate phenotype. Although many genomes will be sequenced in the future, resolution of this aspect of genomic architecture still requires high quality sequences and detailed analyses.

The genomic distribution of intraspecific and interspecific sequence divergence of human segmental duplications relative to human/chimpanzee chromosomal rearrangements

Background: It has been suggested that chromosomal rearrangements harbor the molecular footprint of the biological phenomena which they induce, in the form, for instance, of changes in the sequence divergence rates of linked genes. So far, all the studies of these potential associations have focused on the relationship between structural changes and the rates of evolution of single-copy DNA and have tried to exclude segmental duplications (SDs). This is paradoxical, since SDs are one of the primary forces driving the evolution of structure and function in our genomes and have been linked not only with novel genes acquiring new functions, but also with overall higher DNA sequence divergence and major chromosomal rearrangements.Results: Here we take the opposite view and focus on SDs. We analyze several of the features of SDs, including the rates of intraspecific divergence between paralogous copies of human SDs and of interspecific divergence between human SDs and chimpanzee DNA. We study how divergence measures relate to chromosomal rearrangements, while considering other factors that affect evolutionary rates in single copy DNA. Conclusion: We find that interspecific SD divergence behaves similarly to divergence of single-copy DNA. In contrast, old and recent paralogous copies of SDs do present different patterns of intraspecific divergence. Also, we show that some relatively recent SDs accumulate in regions that carry inversions in sister lineages.

Puolison rooli kansainvälisen yrityksen naisjohtajien urakehityksessä

Naisjohtajuustutkimus on tällä hetkellä todella ajankohtainen aihe. Tästä kertoo muun muassa se, että EVAn (Elinkeinoelämän valtuuskunta) syyskuussa antamassa raportissa havaittiin merkittävä tulos, kun todettiin naisten johtamien yritysten olevan keskimäärin kannattavampia kuin miesten johtamien yritysten. (Kotiranta et al. 2007) Naisia johtajina on tutkittu noin 40 vuoden ajan. Viime aikoina tutkimus on pääsääntöisesti keskittynyt työn ja perhe-elämän yhteensovittamiseen. Puolison roolin tutkiminen on kuitenkin jäänyt vähemmälle huomiolle. Tämän työn tarkoituksena on selvittää sekä ymmärtää työn ja muun elämän yhteensovittamisen dynamiikkaa sekä puolison merkitystä ja roolia kansainvälisessä yrityksessä työskentelevien naisjohtajien urakehityksessä. Tutkimus on laadullinen ja aineistolähtöinen. Tutkimusta varten on haastateltu 14 erään kansainvälisen yrityksen palveluksessa olevaa naisjohtajaa. Tutkimus toteutettiin puolistrukturoituna teemahaastatteluna. Tutkimustulokset osoittavat, että puolison rooli naisjohtajan urakehityksessä on suuri. Puolisolla on myös merkittävä rooli johtajan urakehityksen mahdollistajana. Mikäli puoliso haluaa tukea naisen uraa ja auttaa osallistumaan merkittävästi esimerkiksi perhevelvoitteiden hoitoon, mahdollistaa tämä naisen voimavarojen keskittämisen uraan ja tätä kautta tarjoaa naiselle tilaisuuden edetä urallaan. Merkittävä havainto mikä nousi esille tutkielmaa tehdessä, oli naisten suhtautuminen uralla etenemiseen. Melkein kaikki haastateltavat kertoivat, etteivät välttämättä halua edetä urallaan eteenpäin. Monet mainitsivat, että he haluaisivat mielellään edetä urallaan horisontaalisesti ja näin rikastuttaa tietotaitoaan. Haastateltavien kertoman mukaan he haluisivat hakea elämälleen tasapainoa työn ja muun elämän välille. Voimavarojen suurempi keskittäminen työhön ei heille toisi heidän haluamaansa tasapainoa.

Curvas de isodose no ar em uma sala de mamografia

OBJETIVO: O objetivo deste trabalho foi obter a distribuição da dose absorvida no ar numa sala de mamografia durante a simulação de um exame mamográfico, visando a reavaliar a necessidade do uso de barreiras de proteção radiológica nessas salas e a exposição das pacientes. MATERIAIS E MÉTODOS: Os dados da dose absorvida no ar foram coletados mediante simulação de exame mamográfico de um simulador de mama de BR12, em um equipamento Senograph 600T-Senix HF. Para tal, 158 pastilhas de CaSO4 foram distribuídas em malhas retangulares em torno do bucky, em três alturas distintas. RESULTADOS: O valor mais elevado da dose absorvida no ar, registrado no ponto central da superfície do simulador, centralizado no feixe primário, foi de 8,33 mGy, enquanto o menor valor registrado, devido exclusivamente ao espalhamento, foi de 0,008 mGy. CONCLUSÃO: Estes resultados indicam que o uso de blindagem adicional nas salas de mamografia pode não ser necessário na incidência crânio-caudal, desde que as distâncias consideradas neste trabalho sejam observadas. No entanto, eles enfatizam a necessidade de proteção da paciente.

Stretching the drum skin : an analysis of power relations in leadership and succession in the Evangelical Lutheran church in Tanzania-Northern diocese 1942– 1993

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GABA accumulation and the hypersensitive response in isolated mesophyll cells treated with the G protein activator mastoparan

GABA (y-amino butyric acid) is a non-protein amino acid synthesized through the a-decarboxylation of L-glutamate. This reaction is catalyzed by L-glutamate decarboxylase (EC 4.1.1.15), a cytosolic Ca2+/calmodulin-stimulated enzyme. The purpose of this study is to determine whether or not GABA accumulation is associated with the hypersensitive response of isolated Asparagus sprengeri mesophyll cells. The addition of 25 J.lM mastoparan, a G protein activator, to suspensions of isolated asparagus mesophyll cells significantly increased GABA synthesis and cell death. Cell death was assessed using Evan's blue dye and fluorescein diacetate tests for cell viability. In addition, mastoparan stimulated pH-dependent alkalinization of the external medium, and a rapid and large 02 consumption followed by a loss of photosynthetic activity. The rate of 02 consumption and the net decrease in 02 in the dark was enhanced by light. The inactive mastoparan analogue Mas17 was ineffective in stimulating GABA accumulation, medium alkalinization, 02 uptake and cell death. Accumulation of H202 in response tomastoparan was not detected, however, mastoparan caused the cell-dependent degradation of added H202. The pH dependence of mastoparan-stimulated alkalinization suggests cellular electrolyte leakage, while the consumption of 02 corresponds to the oxidative burst in which 02 at the cell surface is reduced to form various active oxygen species. The results are indicative of the "hypersensitive response" of plants to pathogen attack, namely, the death of cells in the locality of pathogen invasion. The data are compatible with a model in which mastoparan triggers G protein activity, subsequent intracellular signal transduction pathway/s, and the hypersensitive response. It is postulated that the physiological elicitation of the hypersensitive response involves G protein signal transduction. The synthesis of GABA during the hypersensitive response has not been documented previously; however the role/s of GABA synthesis in the hypersensitive response, if any, remain unclear.

Peer Motivational Climate and its Relationship with Positive and Negative Affect in Intramural Sports

The study of peers as an influence on sport participation has received minimal exploration. The purpose of this cross-sectional study was to determine how peer created motivational climates (task-involved and ego-involved) impact positive and negative affective states of intramural sport participants post-participation. Three hundred and fifteen intramural sport participants (N=315) at a Canadian university completed a questionnaire after participating in their intramural sport. Hierarchical regression analyses and MANCOVAs were used to examine the effects of peer motivational climates on positive and negative affect. Results revealed that task-involved peer climates are more conducive of positive affective states post-participation whereas ego-involved climates result in lesser positive affective states and more negative affective states. Teams that promote improvement and effort instead of intra-team competition and conflict will have more positive recreational sport experiences. Future research should explore other psychological outcomes that can result from peer created motivational climates in recreational sport team settings.

Revision of the Niagara Railway Arch Bridge (1920)

From American Society of Civil Engineers.

(Re)Vitalizing Philanthropy: The Emergence of Indigenous Philanthropy and its Implications for Civil Society throughout the Developing World

As developing countries have become more integrated within the global economy, new, developing world-based economic elites have emerged as important philanthropists and development actors. The burgeoning trend of indigenous philanthropy holds particularly important implications for traditionally resource scarce civil society throughout the developing world. Unlike their Western – and particularly US based – counterparts, these foundations emerged from the context in which they focus their projects. This paper explores whether and how the rise of an indigenous philanthropic sector holds promise for the expansion and consolidation of civil society in the developing world in light of the various limited capacities in which this sector operates.

Análisis de los intereses geoestratégicos de China y Estados Unidos en Corea del Sur tras el programa nuclear de Corea del Norte

La península coreana ha sido desde la Guerra Fría y a la actualidad una zona convulsionada por intereses políticos, económicos e ideológicos. Ese panorama obliga un análisis sobre la configuración y los cambios que se han dado entre las potencias actuales, China y Estados Unidos, desde la existencia de un programa nuclear norcoreano que afecta a Corea del Sur y la definición de los intereses de Beijin y Washington.

Estrategias digitales de mercadeo aplicadas a través de las redes sociales

Las personas poco a poco se han ido alejando de los formatos de comunicación tradicionales, para comenzar a utilizar instrumentos digitales que les permitan tener la información al instante, y así estar enterados de lo que sucede a nivel mundial con un solo clic. Es tal la importancia que ha tomado la necesidad de estar actualizado cada minuto que las personas tienen en sus dispositivos de comunicación digital distintas opciones de información tales como aplicaciones de medios escritos, canales informativos y redes sociales, siendo estas últimas las más consultadas y utilizadas a nivel mundial. Las redes sociales han sido creadas con el fin de conectar a las personas en todo el mundo, bajo la interacción a través de grupos, páginas y enlaces de interés. Las personas las han convertido en canales de información de uso diario y han visto en ellas la forma más ágil de conocer como se está comportando su círculo más cercano y el mundo en general. La industria también ha visto la creciente demanda que tienen las redes sociales y ha decidido intervenir en el juego interactivo abasteciendo a los usuarios de una multiplicidad de elementos de todo tipo a su disposición. Han creado estrategias agresivas para llegar a la mayor cantidad de personas posibles y han logrado resultados potenciales, en términos de fortalecimiento de marca.

La política exterior de Colombia con China: ¿Cuáles son los retos?

La presente investigación está orientada a una revisión de la política exterior de Colombia con China, para identificar avances, fallas y omisiones en la búsqueda del fortalecimiento de la relación. Ante el fenómeno de la globalización, el gigante asiático se presenta como un actor fundamental para establecer sociedades, por su reciente ascenso en la jerarquía de poder, su creciente industria demandante de materias primas y su densa población, cuya capacidad de consumo se amplía con el paso del tiempo. Aunque el interés de Colombia por estrechar los vínculos con China se ha manifestado en los recientes gobiernos, la carencia de una política y estrategia de Estado, así como la debilidad diplomática, ha influido en que no se haya logrado resultados sustanciales. Se vislumbran falencias en la gestión política que han repercutido en la falta de dinamismo de los vínculos y que impactan en el plano económico. Para el desarrollo de la investigación se adoptan postulados teóricos sobre la relación entre la política interna y la política externa, que explican cómo los fenómenos domésticos influyen en las posiciones que los Estados adoptan en sus relaciones con otros países. Esta visión nos permite establecer de qué manera los procesos internos de Colombia, la caracterización institucional, la designación de líderes, entre otros aspectos, han incidido en los vínculos con China. Por la naturaleza del estudio se acoge una metodología cualitativa que abarca la revisión de material bibliográfico y periodístico, la consulta de documentos oficiales y el desarrollo de entrevistas a investigadores de la relación colombo-china. También se recogen datos estadísticos, fundamentales para soportar los objetivos de este trabajo y se citan casos de países como Brasil y Chile, que constituyen un referente para conocer qué tan lejos está Colombia en su relación con el gigante asiático y cuáles son los pasos que falta por dar. Se considera que esta investigación constituye una base académica para el desarrollo de nuevos estudios sobre la relación de Colombia con China, dado que se identifican elementos que han sido determinantes en el rezago histórico frente a este país asiático. Así mismo, con este trabajo investigativo se pretende hacer un aporte, desde la academia, al Estado colombiano para el desarrollo de una estrategia diplomática que permita estrechar lazos con China, basados en los factores que se han identificado en los cuatro capítulos que contempla el estudio. Colombia está en mora de replantear su relación con una de las economías más fuertes del mundo, para ello se requiere una hoja de ruta que permita navegar con claridad hacia el gigante asiático.