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.

Las Obras hidráulicas en los sistemas fluviales de la Costa Brava: preferencias locales y limitaciones de un modelo convencional de adaptación al riesgo de inundación

Este artículo tiene por finalidad analizar las medidas de adaptación al riesgo de inundación que se han realizado en el ámbito de la Costa Brava, con especial incidencia en el papel que han tenido las obras de infraestructura hidráulica en la prevención de avenidas. Se intenta comprobar hasta que punto la percepción local dominante sobre las obras hidráulicas como una de las formas más eficientes pera la prevención de inundaciones se contradice con las nuevas tendencias tanto en relación a los costes ecológicos de la construcción de estos dispositivos hidráulicos como al planeamiento urbanístico y fluvial, en general

Aportaciones al conocimiento del Cretácico del macizo del Montgrí (Girona)

ln this paper we describe a stratigraphic column of the Cretaceous of the Montgrí. This description is based on several partial stratigraphic cross sections as well as on the lithological characterof the different levels and their faunal content, specially megafossils

Sedimentología del Mioceno del Vallés occidental (prov. de Barcelona)

In this paper we make a litostratigraphical study on the Miocene of the 'Vallés occidental' (Barcelona, Spain) which embraces a part of the 'Depresion Media' of the intermediary tectonic grave between the 'Cadena Litoral' and 'Prelitoral' of the 'Sistema Mediterráneo'. At the same time we undertake an analysis of the bassin

Morfogénesis del valle de Sant Miquel de Campmajor

A series of circumstances which converge in a little valley in the province of Girona, result in a peculiar type of morphogenetic evolution and a quite singular mechanical instability of its buttons. Very recent tectonic movements as well as dissolution phenomena of its subsoil due to pressurized underground water have played an important role in the morphogenesis. Such conditions have resulted in a fast morphological evolution which a progressive lowering of the valley floor as well as peculiar morphological features which favour the existence of numerous pits caused by sudden collapses distributed in altitude and time

Interpretación sedimentológica y paleogeográfica del nivel de areniscas eocénicas de Sarrià de Ter (Prov. de Gerona)

There is in this work a description of sedimentological characters of the medium Eocene sandstone level from Sarriá de Ter (Gerona province Spain) and an interpretation of their genesis and situation in the regional paleogeography. The conclusion is that these sandstones form a deltaic channel(delta front). To wards the E and NE the become fluvial deposits, to wards the W, Plana de Vic, they become clay and silstones considered as a prodelta

Presencia del Mioceno continental bajo el cauce del río Onyar en Gerona

Starting from the discovery of a cheek-booth Dinotherium giganteum KAUP in the river Oñar in Gerona we can consider that the Miocene formations of La Selva expand up to this area

Serie estratigráfica de Liásico de la provincia de Girona

From several small stratigraphic sections, we have reconstituted the Liassic interval of the Girona Province (NE Spain). We have been able to identify paleontologically the Carixian (Jamesoni, Ibex, and perhaps, Davoei zones), the Lower Domerian (Stockesi zone), and the Middle Toarcian (possibily Variabilis zone, as well as Thouarsense and Insigne zones). The Lower Toarcian (Serpentinus zone) is represented by fossil remains no ‘in situ’. The lowest Toarcián (Tenuicos-tatum zone) as well as the Middle and Upper Domerian (Margaritatus and Spinatum zones respectively, are probably represented by stratigraphic gaps

Significado sedimentológico de los niveles con Assilinas de la Formación Armancies (Eoceno medio) y sus equivalentes laterales

In this paper we show some sedimentological characteristics of Assilina beds from Armancies Fm. (middle Eocene) and their lateral equivalents that let us to remark some aspects of their genesis. We arrive to the conclusion that, in occidental sector (Bagá-Campdevanol), ‘las barras de Assilinas’ from the Armancies Fm. are grain flow channels, first sedimented at W of Terrades and after slided, from E to W in a turbidite basin, without any coarse clastic

Estudio de base y definición de proyectos piloto para un PROGRAMA NACIONAL DE ELECTRIFICACIÓN RURAL EN PARAGUAY

El presente Informe es el Informe Final de los servicios de Cooperación Técnica “Programa Nacional de Electrificación Rural de Paraguay” CT 1039. Contiene los resultados de todas las actividades realizadas e integra los contenidos revisados de documentos anteriores. Los trabajos realizados para este informe han sido dirigidos por el Ing. Xavier Vallvé. Los autores del informe son los Ing. Pol Arranz-Piera, Ing. Jean-Claude Pulfer, con la colaboración del Ing. Enrique Velo y las aportaciones del Lic. Jaume Serrasolses y Sr. Jorge Sneij.

Sovereign debt markets in turbulent times: Creditor discrimination and crowding-out effects

In 2007, countries in the Euro periphery were enjoying stable growth, low deficits, and lowspreads. Then the financial crisis erupted and pushed them into deep recessions, raising theirdeficits and debt levels. By 2010, they were facing severe debt problems. Spreads increased and,surprisingly, so did the share of the debt held by domestic creditors. Credit was reallocatedfrom the private to the public sectors, reducing investment and deepening the recessions evenfurther. To account for these facts, we propose a simple model of sovereign risk in which debtcan be traded in secondary markets. The model has two key ingredients: creditor discriminationand crowding-out effects. Creditor discrimination arises because, in turbulent times, sovereigndebt offers a higher expected return to domestic creditors than to foreign ones. This providesincentives for domestic purchases of debt. Crowding-out effects arise because private borrowingis limited by financial frictions. This implies that domestic debt purchases displace productiveinvestment. The model shows that these purchases reduce growth and welfare, and may lead toself-fulfilling crises. It also shows how crowding-out effects can be transmitted to other countriesin the Eurozone, and how they may be addressed by policies at the European level.