Vici syndrome is a progressive neurodevelopmental multisystem disorder caused by mutations in the autophagy gene EPG5. Byrne et al. characterise the phenotype of 50 affected children, revealing callosal agenesis, cataracts, hypopigmentation, cardiomyopathy, immune dysfunction, developmental delay and microcephaly. Downregulation of epg5 in Drosophila results in autophagic abnormalities and progressive neurodegeneration.

No abstract

Harnessing the NEON data revolution to advance open environmental science with a diverse and data-capable community. Ecosphere 12(12):e03833.

Understanding patterns and drivers of species distribution and abundance, and thus biodiversity, is a core goal of ecology. Despite advances in recent decades, research into these patterns and processes is currently limited by a lack of standardized, high‐quality, empirical data that span large spatial scales and long time periods. The NEON fills this gap by providing freely available observational data that are generated during robust and consistent organismal sampling of several sentinel taxonomic groups within 81 sites distributed across the United States and will be collected for at least 30 years. The breadth and scope of these data provide a unique resource for advancing biodiversity research. To maximize the potential of this opportunity, however, it is critical that NEON data be maximally accessible and easily integrated into investigators' workflows and analyses. To facilitate its use for biodiversity research and synthesis, we created a workflow to process and format NEON organismal data into the ecocomDP (ecological community data design pattern) format that were available through the ecocomDP R package; we then provided the standardized data as an R data package (neonDivData). We briefly summarize sampling designs and data wrangling decisions for the major taxonomic groups included in this effort. Our workflows are open‐source so the biodiversity community may: add additional taxonomic groups; modify the workflow to produce datasets appropriate for their own analytical needs; and regularly update the data packages as more observations become available. Finally, we provide two simple examples of how the standardized data may be used for biodiversity research. By providing a standardized data package, we hope to enhance the utility of NEON organismal data in advancing biodiversity research and encourage the use of the harmonized ecocomDP data design pattern for community ecology data from other ecological observatory networks.

To monitor the effect of nature restoration projects in North Sea ecosystems, accurate and intensive biodiversity assessments are vital. DNA based techniques and especially environmental DNA (eDNA) metabarcoding from seawater is becoming a powerful monitoring tool. However, current approaches are based on genetic target regions of <500 nucleotides, which offer limited taxonomic resolution. This study aims to develop and validate a long read nanopore sequencing method for eDNA that enables improved identification of fish species.We designed a universal primer pair targeting a 2kb region covering the 12S and 16S rRNA genes of fish mitochondria. eDNA was amplified and sequenced using the Oxford Nanopore MiniON. Sequence data was processed using the new pipeline Decona, and accurate consensus identities of above 99.9% were retrieved. The primer set efficiency was tested with eDNA from a 3.000.000 L zoo aquarium with 31 species of bony fish and elasmobranchs. Over 55% of the species present were identified on species level and over 75% on genus level. Next, our long read eDNA metabarcoding approach was applied to North Sea eDNA field samples collected at ship wreck sites, the Gemini Offshore Wind Farm, the Borkum Reef Grounds and a bare sand bottom. Here, location specific fish and vertebrate communities were obtained. Incomplete reference databases still form a major bottleneck in further developing high resolution long read metabarcoding. Yet, the method has great potential for rapid and accurate fish species monitoring in marine field studies.

Flow regulation by dams can reduce hydrologic variability, and subsequently, alter river food webs. This study compared the summer algal and macroinvertebrate assemblages from the mainstem Eel River (Mainstem) below Cape Horn Dam to that of the unregulated Middle Fork Eel River (Middle Fork). Despite above average rainfall in 2017, flow regulation produced a steeper spring flow recession limb with only 15.72 cubic meter per second in the dammed Mainstem in late May, which was about half the undammed Middle Fork's discharge of 32.28 cubic meter per second at the same time of year. Peak summer water temperatures in the Mainstem (mid-August) were later relative to the Middle Fork (late July) based on past years of monitoring. The regulated Mainstem supported less Cladophora with lower midsummer algal richness, resulting in a macroinvertebrate community less reliant on Cladophora, with fewer key invertebrates such as Chironominae compared to the unregulated Middle Fork. Dam systems that reduce flow variation in Mediterranean rivers may shift the downstream community away from seasonal proliferation of dense green filamentous algae and invertebrate grazers typical of rivers in this climate, and towards adnate epilithic algae and cyanobacteria and generalist invertebrates, due to the encroachment of riparian vegetation and reduced thermal variation.

No abstract

Understanding patterns and drivers of species distributions and abundances, and thus biodiversity, is a core goal of ecology. Despite advances in recent decades, research into these patterns and processes is currently limited by a lack of standardized, high-quality, empirical data that spans large spatial scales and long time periods. The National Ecological Observatory Network (NEON) fills this gap by providing freely available observational data that are: generated during robust and consistent organismal sampling of several sentinel taxonomic groups within 81 sites distributed across the United States; and will be collected for at least 30 years. The breadth and scope of these data provides a unique resource for advancing biodiversity research. To maximize the potential of this opportunity, however, it is critical that NEON data be maximally accessible and easily integrated into investigators’ workflows and analyses. To facilitate its use for biodiversity research and synthesis, we created a workflow to process and format NEON organismal data into the ecocomDP (ecological community data design pattern) format, and available through the `ecocomDP` R package; we then provided the standardized data as an R data package (`neonDivData`). We briefly summarize sampling designs and data wrangling decisions for the major taxonomic groups included in this effort. Our workflows are open-source so the biodiversity community may: add additional taxonomic groups; modify the workflow to produce datasets appropriate for their own analytical needs; and regularly update the data packages as more observations become available. Finally, we provide two simple examples of how the standardized data may be used for biodiversity research. By providing a standardized data package, we hope to enhance the utility of NEON organismal data in advancing biodiversity research.