Extreme genomic erosion after recurrent demographic bottlenecks in the highly endangered Iberian lynx

Background: Genomic studies of endangered species provide insights into their evolution and demographic history, reveal patterns of genomic erosion that might limit their viability, and offer tools for their effective conservation. The Iberian lynx (Lynx pardinus) is the most endangered felid and a unique example of a species on the brink of extinction. Results: We generate the first annotated draft of the Iberian lynx genome and carry out genome-based analyses of lynx demography, evolution, and population genetics. We identify a series of severe population bottlenecks in the history of the Iberian lynx that predate its known demographic decline during the 20th century and have greatly impacted its genome evolution. We observe drastically reduced rates of weak-to-strong substitutions associated with GC-biased gene conversion and increased rates of fixation of transposable elements. We also find multiple signatures of genetic erosion in the two remnant Iberian lynx populations, including a high frequency of potentially deleterious variants and substitutions, as well as the lowest genome-wide genetic diversity reported so far in any species. Conclusions: The genomic features observed in the Iberian lynx genome may hamper short- and long-term viability through reduced fitness and adaptive potential. The knowledge and resources developed in this study will boost the research on felid evolution and conservation genomics and will benefit the ongoing conservation and management of this emblematic species

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

VAMP2 encodes the vesicular SNARE protein VAMP2 (also called synaptobrevin-2). Together with its partners syntaxin-1A and synaptosomal-associated protein 25 (SNAP25), VAMP2 mediates fusion of synaptic vesicles to release neurotransmitters. VAMP2 is essential for vesicular exocytosis and activity-dependent neurotransmitter release. Here, we report five heterozygous de novo mutations in VAMP2 in unrelated individuals presenting with a neurodevelopmental disorder characterized by axial hypotonia (which had been present since birth), intellectual disability, and autistic features. In total, we identified two single-amino-acid deletions and three non-synonymous variants affecting conserved residues within the C terminus of the VAMP2 SNARE motif. Affected individuals carrying de novo non-synonymous variants involving the C-terminal region presented a more severe phenotype with additional neurological features, including central visual impairment, hyperkinetic movement disorder, and epilepsy or electroencephalography abnormalities. Reconstituted fusion involving a lipid-mixing assay indicated impairment in vesicle fusion as one of the possible associated disease mechanisms. The genetic synaptopathy caused by VAMP2 de novo mutations highlights the key roles of this gene in human brain development and function

Traité pratique des maladies mentales /

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Assessment of the water supply:demand ratios in a Mediterranean basin under different global change scenarios and mitigation alternatives

Spatial differences in the supply and demand of ecosystem services such as water provisioning often imply that the demand for ecosystem services cannot be fulfilled at the local scale, but it can be fulfilled at larger scales (regional, continental). Differences in the supply:demand (S:D) ratio for a given service result in different values, and these differences might be assessed with monetary or non-monetary metrics. Water scarcity occurs where and when water resources are not enough to meet all the demands, and this affects equally the service of water provisioning and the ecosystem needs. In this study we assess the value of water in a Mediterranean basin under different global change (i.e. both climate and anthropogenic changes) and mitigation scenarios, with a non-monetary metric: the S:D ratio. We computed water balances across the Ebro basin (North-East Spain) with the spatially explicit InVEST model. We highlight the spatial and temporal mismatches existing across a single hydrological basin regarding water provisioning and its consumption, considering or not, the environmental demand (environmental flow). The study shows that water scarcity is commonly a local issue (sub-basin to region), but that all demands are met at the largest considered spatial scale (basin). This was not the case in the worst-case scenario (increasing demands and decreasing supply), as the S:D ratio at the basin scale was near 1, indicating that serious problems of water scarcity might occur in the near future even at the basin scale. The analysis of possible mitigation scenarios reveals that the impact of global change may be counteracted by the decrease of irrigated areas. Furthermore, the comparison between a non-monetary (S:D ratio) and a monetary (water price) valuation metrics reveals that the S:D ratio provides similar values and might be therefore used as a spatially explicit metric to valuate the ecosystem service water provisioning

Core commitments for field trials of gene drive organisms

We must ensure that trials are scientifically, politically, and socially robust, publicly accountable, and widely transparent. Gene drive organisms (GDOs), whose genomes have been genetically engineered to spread a desired allele through a population, have the potential to transform the way societies address a wide range of daunting public health and environmental challenges. The development, testing, and release of GDOs, however, are complex and often controversial. A key challenge is to clarify the appropriate roles of developers and others actively engaged in work with GDOs in decision-making processes, and, in particular, how to establish partnerships with relevant authorities and other stakeholders. Several members of the gene drive community previously proposed safeguards for laboratory experiments with GDOs (1) that, in the absence of national or international guidelines, were considered essential for responsible laboratory work to proceed. Now, with GDO development advancing in laboratories (2–5), we envision similar safeguards for the potential next step: ecologically and/or genetically confined field trials to further assess the performance of GDOs. A GDO’s propensity to spread necessitates well-developed criteria for field trials to assess its potential impacts (6). We, as a multidisciplinary group of GDO developers, ecologists, conservation biologists, and experts in social science, ethics, and policy, outline commitments below that we deem critical for responsible conduct of a field trial and to ensure that these technologies, if they are introduced, serve the public interest. Includes Supplementary materials