Integrative genetic analysis illuminates ALS heritability and identifies risk genes

Amyotrophic lateral sclerosis (ALS) has substantial heritability, in part shared with fronto-temporal dementia (FTD). We show that ALS heritability is enriched in splicing variants and in binding sites of 6 RNA-binding proteins including TDP-43 and FUS. A transcriptome wide association study (TWAS) identified 6 loci associated with ALS, including in NUP50 encoding for the nucleopore basket protein NUP50. Independently, rare variants in NUP50 were associated with ALS risk (P = 3.71.10−03; odds ratio = 3.29; 95%CI, 1.37 to 7.87) in a cohort of 9,390 ALS/FTD patients and 4,594 controls. Cells from one patient carrying a NUP50 frameshift mutation displayed a decreased level of NUP50. Loss of NUP50 leads to death of cultured neurons, and motor defects in Drosophila and zebrafish. Thus, our study identifies alterations in splicing in neurons as critical in ALS and provides genetic evidence linking nuclear pore defects to ALS

Textural indices of aerial images reveal urban landscapes temporal dynamics and their effects on plants and birds

Landscape temporal dynamics are a crucial concern in ecology to understand current biodiversity. But historical environmental data are often not easily available. This study assesses for the first time the potential of historical orthophotographs to describe past landscape conditions and determine the temporal lag between landscape changes and biotic communities responses.This method utilizes Gray level Co-occurrence Matrix (GLCM) texture indices computed from black and white orthophotographs to construct continuous metrics of landscape composition. Metrics were first developed using present-day data, i.e. 2015, and calibrated with categorical land cover maps of the Strasbourg Eurometropolis, France. Subsequently, these metrics were applied to historical orthophotographs from 1966, 1976, 1986, and 2000. Plant and bird data from research and citizen science programs were used to estimate the time delay in which these communities respond to evolutions in built areas and high vegetation.Obtained texture-based models reveal that built areas exhibit high contrast and homogeneity, depicted through a linear relation, and that high vegetation display low pixel brightness and high brightness diversity, better described via a nonlinear model. We successfully applied those findings to historical orthophotographs, and revealed dependencies on landscape composition up to 50 years ago for plants and up to 30 years ago for birds, with the time lag and the influence of built and high vegetation areas depending on the selected biodiversity indices.These results demonstrate the utility of archive black and white orthophotographs' texture indices for describing urban landscapes over the past five decades, making them valuable tools for ecological research. These indices are more accessible than categorical data like land cover maps for past years. They have the potential to greatly benefit future studies investigating time lags in landscape ecology, simplifying access to historical landscape features and contributing to sustainable urban planning efforts

Pesticide doses, landscape structure and their relative effects on farmland birds

International audiencetAgricultural changes related to the intensification of farming practices and the simplification of land-scape elements often occur simultaneously. Their respective effects on biodiversity are thus difficult todisentangle and are poorly understood. This study assessed the relative contribution of each componentof agricultural intensification on taxonomic and functional bird communities.The bird communities studied were composed of 70 species, both farmland and non-farmland birds,found in 66 fields covering three main cereal departments of France. Herbicide dose was related to mea-surable negative effects on the Community Specialization Index (CSI). Overall, the proportion of habitatspecialists, particularly of herbivorous species, decreased, and the proportion of generalists increased aspesticide doses increased. Pesticides also had a positive effect on total abundance and richness, whereasno influence of insecticide or fungicide doses could be detected. Landscape simplification was associatedwith a loss of bird species diversity and an increase in the CSI.Our findings suggest that the intensification of agriculture in this area, as reflected by increasing pes-ticide doses, modified communities by homogenizing species assemblages, whereas landscape elementsimplification led to the selection of only a few typical farmland birds enabled to persist in a simpli-fied arable landscape. These results highlight the importance of combining taxonomic with functionaldiversity indices to fully understand changes in communities that occur in response to agriculturalintensification

Perception and knowledge of plant diversity among urban park users

International audienceFor several decades, ecological studies have suggested that urbanized environments can be viewed asbiodiversity refuges, thus broadening conservation concerns from pristine to urban green areas. Despitethe increasing motivation to conserve areas where humans live and work, the conservation of urbanbiodiversity rarely takes citizens’ knowledge, perception, and needs into account. Interdisciplinary-basedconservation is thus urgently needed in order to bridge this gap. We therefore studied a park located inParis (France) where we combined ecological and human sciences to question a botanist and 100 parkusers about their knowledge and perceptions of plant richness. We then assessed the role of plant richnesson people’s perception of the services provided by the park. Our findings show that park users mainlyrecognized the cultivated plants promoted by gardeners, whereas the botanist more frequently observedspontaneous plants. Furthermore, the plant richness estimation by park users was much lower than thebotanist’s count. The users were attentive to the surrounding plant richness because of its beauty andits effect on their sense of well-being, whereas its role in biodiversity and ecological functions were lessrelevant. Finally, although the knowledge of plant richness among park users was poor and focused onornamental plants, they preferred to consider wild plant management in terms of cohabitation ratherthan removal, which may indicate a desire for more naturalistic landscapes. We discuss these resultsand propose several recommendations for improving biodiversity conservation in green parks withoutundermining the park users’ well-being

Reduce pesticides to increase earthworm abundance in agricultural systems

The loss of biodiversity due to agricultural intensification was a major environmental issue that called for the design of new cropping systems such as organic farming and low-input cropping systems. However, the potential benefits of such systems have not yet been precisely assessed. Earthworms may be affected by pesticide applications, especially species living in contact with the soil surface. Based on empirical data obtained from conventional and organic cropping systems in different sites near Paris, we established simple relationships between the Treatment Frequency index (a phytosanitary indicator of pesticide pressure) and the abundance of three earthworm species (Allolobophora chlorotica, Lumbricus castaneus and L. terrestris). Insecticides have more negative influence on earthworm species than herbicides and fungicides. We also found that species living in the soil's surface layer were the most affected by pesticides. If the Treatment Frequency Index was halved, as is currently required by some European regulations, density of these three earthworm species could be multiplied by a factor 1.5-4. This could represent an important functional benefit for agroecosystems

Promoting earthworm abundance by reducing pesticides in agricultural systems

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New advances in Amyotrophic Lateral Sclerosis genetics: towards gene therapy opportunities for familial and young cases

International audienceDue to novel gene therapy opportunities, genetic screening is no longer restricted to familial cases of ALS (FALS) cases but also aplies to the sporadic populations (SALS). Screening of four main genes (C9orf72, SOD1, TARDBP and FUS) identified the causes in 15% of Amyotrophic Lateral Sclerosis (ALS) patients (two third of the familial cases and 8% of the sporadic ones) but their respective contribution to ALS phenotype varies according the age of disease onset. The genetic overlap between ALS and other diseases is expanding and includes frontotemporal dementia, Paget's Disease of Bone, myopathy for adult cases, HSP and CMT for young cases highlighing the importance of retrieving the exhaustive familial history for each indivdual with ALS. Incomplete disease penetrance, diversity of the possible phenotypes, as well as the lack of confidence concerning the pathogenicity of most identified variants and/or possible oligogenic inheritance are burdens of ALS genetic counseling to be delivered to patients and at risk individuals. The multitude of rare ALS genetic causes identifed seems to converge to similar cellular pathways leading to inapropriate response to stress emphacising new potential therapeutic options for the disease

Promoting earthworm abundance by reducing pesticides in agricultural systems

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Réduire les pesticides pour augmenter les populations de vers de terre dans les champs cultivés

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Reduction of pesticide use can increase earthworm populations in wheat crops in a European temperate region

Agricultural intensification has led to reduced soil biodiversity in arable lands. The potential benefits from organic farming and from low-input cropping systems have not yet been precisely assessed. Earthworm, having important agro-ecological functions, may be affected by pesticide applications, especially those species living mainly in the surface soil layer. We used a five-year experimental database including conventional and organic cropping systems to establish simple relationships between the Treatment Frequency Index - a phytosanitary indicator of pesticide pressure - and the abundance of three important earthworm species. We found that insecticides have more negative influence on earthworm species than herbicides and fungicides, and that species living in the soil's surface layer were the most affected by pesticides. Density of these earthworm species could be multiplied by a factor 1.5-4 if the Treatment Frequency Index was halved, as is currently required by some European regulations. Our results thus demonstrate that a reduction in pesticide application would increase earthworm population density in agricultural fields