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Item does not contain fulltext The study aimed at widening the clinical and genetic spectrum of ASXL3-related syndrome, a neurodevelopmental disorder, caused by truncating variants in the ASXL3 gene. In this international collaborative study, we have undertaken a detailed clinical and molecular analysis of 45 previously unpublished individuals with ASXL3-related syndrome, as well as a review of all previously published individuals. We have reviewed the rather limited functional characterization of pathogenic variants in ASXL3 and discuss current understanding of the consequences of the different ASXL3 variants. In this comprehensive analysis of ASXL3-related syndrome, we define its natural history and clinical evolution occurring with age. We report familial ASXL3 pathogenic variants, characterize the phenotype in mildly affected individuals and discuss nonpenetrance. We also discuss the role of missense variants in ASXL3. We delineate a variable but consistent phenotype. The most characteristic features are neurodevelopmental delay with consistently limited speech, significant neuro-behavioral issues, hypotonia, and feeding difficulties. Distinctive features include downslanting palpebral fissures, hypertelorism, tubular nose with a prominent nasal bridge, and low-hanging columella. The presented data will inform clinical management of individuals with ASXL3-related syndrome and improve interpretation of new ASXL3 sequence variants.

Methylobacterium is a prevalent bacterial genus of the phyllosphere. Despite its ubiquity, little is known about the extent to which its diversity reflects neutral processes like migration and drift, versus environmental filtering of life history strategies and adaptations. In two temperate forests, we investigated how phylogenetic diversity within Methylobacterium was structured by biogeography, seasonality, and growth strategies. Using deep, culture-independent barcoded marker gene sequencing coupled with culture-based approaches, we uncovered a considerable diversity of Methylobacterium in the phyllosphere. We cultured different subsets of Methylobacterium lineages depending upon the temperature of isolation and growth (20 °C or 30 °C), suggesting long-term adaptation to temperature. To a lesser extent than temperature adaptation, Methylobacterium diversity was also structured across large (>100km; between forests) and small geographical scales (Methylobacterium is phylogenetically structured into lineages with distinct growth strategies, which helps explain their differential abundance across regions, host tree species, and time. This works paves the way for further investigation of adaptive strategies and traits within a ubiquitous phyllosphere genus.ImportanceMethylobacterium is a bacterial group tied to plants. Despite its ubiquity and importance to their hosts, little is known about the processes driving Methylobacterium community dynamics. By combining traditional culture-dependent and independent (metabarcoding) approaches, we monitored Methylobacterium diversity in two temperate forests over a growing season. On the surface of tree leaves, we discovered remarkably diverse and dynamic Methylobacterium communities over short temporal (from June to October) and spatial scales (within 1.2 km). Because we cultured different subsets of Methylobacterium diversity depending on the temperature of incubation, we suspected that these dynamics partly reflected climatic adaptation. By culturing strains in lab conditions mimicking seasonal variations, we found that diversity and environmental variations were indeed good predictors of Methylobacterium growth performances. Our findings suggest that Methylobacterium community dynamics at the surface of tree leaves results from the succession of strains with contrasted growth strategies in response to environmental variations.

The crossover between research and field is an essential basis for thinking about adaptation on a territorial scale. In the field, the AdaMont project, which focuses on adaptation to climate change in medium mountain areas, was based on a participatory approach involving a wide range of stakeholders, while remaining as close as possible to the operational level. At the end of the project, many indicators testify to the reality of this co-construction work: sixteen days of workshops, one hundred and fifty people mobilized and several thousand elements of formalized knowledge for the mountain territories partners of the project.; Le croisement des regards entre recherche et terrain constitue un socle essentiel pour penser l'adaptation à l'échelle des territoires. Côté terrain, le projet AdaMont, centré sur l'adaptation au changement climatique des territoires de moyenne montagne, s'est appuyé sur une démarche participative impliquant une large gamme de parties-prenantes, tout en restant au plus près du niveau opérationnel. À l'issue du projet, de nombreux indicateurs témoignent de la réalité de ce travail de co-construction : seize journées d'ateliers, cent-cinquante personnes mobilisées et plusieurs milliers d'éléments de connaissance formalisés pour les territoires de montagne partenaires du projet.

To face climate change, mid-mountain territorial communities set up sectoral adaptations. This article presents a model of capitalization and linking of these adaptation practices (already tested or to be considered). This model makes it possible to move from a sectoral to an integrated and intelligent adaptation, aware of implications and synergies between several sectors of activities over a given territory. The model's concepts are presented in UML (Unified Modeling Language), a graphical modeling language used to design computer systems. From this, objective would be to use these concepts to build a web application dedicated to climate change adaptation practices, which could support governance of territorial communities. Conducted within the framework of the GICC-ONERC AdaMont (2015-2017) project, this operational aim may justify the setting up of new scientific and technical partnerships.; Face au changement climatique, les communautés territoriales de moyenne montagne mettent en place, de façon sectorielle, des adaptations. Cet article présente un modèle de capitalisation et de mise en relation de ces pratiques d'adaptation (éprouvées ou envisagées). Celui-ci permet de passer d'une adaptation métier, sectorielle, à une adaptation intégrée, intelligente, consciente des implications et synergies entre les secteurs d'activités présents sur un territoire. Les concepts qui structurent le modèle sont présentés en UML (Unified Modeling Language), un langage de modélisation informatique graphique servant de support à la conception de systèmes informatisés. L'ambition, à termes, est de développer ces concepts jusqu'à la réalisation d'une application web destinée à la gouvernance des communautés territoriales qui traite des pratiques d'adaptation au changement climatique. Mené dans le cadre du projet GICC-ONERC AdaMont (2015-2017), cette visée opérationnelle pourra justifier la mise en place de nouveaux partenariats scientifiques et techniques.

A treasure hunt based on "geocaches" was designed by a team of researchers and applied to the territory of the Vercors. The aim is both to promote the research work carried out on climate change in Grenoble and to raise public awareness through a leisure activity.; Un jeu de piste à base de « géocaches » a été conçu par une équipe de chercheurs et appliqué au territoire du Vercors. Il s'agit à la fois de valoriser les travaux de recherche menés sur le changement climatique à Grenoble et de sensibiliser les publics par le biais d'une activité de loisir.