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.

Flank stability and processes off the western Canary Islands: a review from El Hierro and La Palma

The morphological characterisation of the western submarine island flanks of El Hierro and La Palma differentiates four type-zones that may give new insights into the evolution of oceanic island slopes. The different type-zones result from the interplay between constructive volcanic processes, hemipelagic settling and volcano collapses. The latter results in massive debris avalanche deposits, which form large volcaniclastic aprons. In most cases, the headwall scarps are clearly exposed on the emerged part of the islands. The events that occurred in the youngest and westernmost islands of El Hierro and La Palma have vertical runouts exceeding 6,000 m and volumes that can reach several hundred km3. The landslide frequency for the entire Canaries is one major event per 90 ka. Triggering mechanisms are closely related to magmatic processes. The increase in the shear stress is directly linked with the forceful intrusion of magma along ridge-rift systems, while in the western Canary Islands it seems that the main process reducing shear resistance may be related to the rise in pore pressure due to hydrothermal circulation.

FDI from European Union to Western Balkan Countires: is the economic development being intensified in the region?

La inversió estrangera directa és important a causa dels seus avantatges per al país d'acollida, per exemple augmentarà la competitivitat i s’intensifica el desenvolupament. Els avantatges són significatives als països dels Balcans occidentals que s'enfronten a les dificultats de la competència i el creixement més baix de la UE-27. El treball analitza el tipus dominant de la IED de la UE-27 a la regió dels Balcans Occidentals a escala nacional i sectorial per formar les implicacions sobre el futur creixement de la competitivitat i la intensitat del desenvolupament econòmic. Es troba que la IED horitzontal domina als Balcans occidentals, per tant, el creixement de la competitivitat i el desenvolupament econòmic es va intensificar a la regió.

The L-type voltage-gated calcium channel modulates microglial pro-inflammatory activity

Under pathological conditions, microglia, the resident CNS immune cells, become reactive and release pro-inflammatory cytokines and neurotoxic factors. We investigated whether this phenotypic switch includes changes in the expression of the L-type voltage-gated calcium channel (VGCC) in a rat model of N-methyl-d-aspartate-induced hippocampal neurodegeneration. Double immunohistochemistry and confocal microscopy evidenced that activated microglia express the L-type VGCC. We then analyzed whether BV2 microglia express functional L-type VGCC, and investigated the latter's role in microglial cytokine release and phagocytic capacity. Activated BV2 microglia express the CaV1.2 and CaV1.3 subunits of the L-type VGCC determined by reverse transcription-polymerase chain reaction, Western blot and immunocytochemistry. Depolarization with KCl induced a Ca2+ entry facilitated by Bay k8644 and partially blocked with nifedipine, which also reduced TNF-α and NO release by 40%. However, no nifedipine effect on BV2 microglia viability or phagocytic capacity was observed. Our results suggest that in CNS inflammatory processes, the L-type VGCC plays a specific role in the control of microglial secretory activity.