Microbial contamination and management scenarios in a Mediterranean coastal lagoon (Etang de Thau, France): application of a Decision Support System within the Integrated Coastal Zone Management context

1 - In the Thau lagoon (Southern Mediterranean Coast) the main anthropogenic pressure is represented by the urban development in the watershed, whilst oyster and mussel farming represents one of the main economical activities in the region. 2 - During the last decade, the increasing organic loads from watershed and urban settlements in the lagoon surroundings have caused a diffuse contamination by faecal bacteria. Also toxic algal blooms have been occurring, impairing water quality with major impacts on shellfish farming, fishery and bathing. 3 - In this study, indicators and scenarios identified for the lagoon have been integrated in a Decision Support System (DSS) to evaluate the best solutions for reducing pressures and improving both water quality and ecosystem status. 4 - The watershed has been analysed with reference to indicators of pollution sources and transfer rates to the lagoon. In parallel, socio-economic indicators and descriptors of urban growth and development have been assessed. Numerical models have been run in order to simulate the lagoon hydrodynamics in relation to both meteorological factors and watershed runoff. The impact of faecal bacteria contamination has been evaluated in terms of economical losses and social conflicts, arising from the restriction of shellfish farming and marketing during contamination events. Finally, the DSS prototype has been applied to the lagoon in support to management and future planning

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.

Purpose RAX2 encodes a homeobox-containing transcription factor, in which four monoallelic pathogenic variants have been described in autosomal dominant cone-dominated retinal disease. Methods Exome sequencing in a European cohort with inherited retinal disease (IRD) (n = 2086) was combined with protein structure modeling of RAX2 missense variants, bioinformatics analysis of deletion breakpoints, haplotyping of RAX2 variant c.335dup, and clinical assessment of biallelic RAX2-positive cases and carrier family members. Results Biallelic RAX2 sequence and structural variants were found in five unrelated European index cases, displaying nonsyndromic autosomal recessive retinitis pigmentosa (ARRP) with an age of onset ranging from childhood to the mid-40s (average mid-30s). Protein structure modeling points to loss of function of the novel recessive missense variants and to a dominant-negative effect of the reported dominant RAX2 alleles. Structural variants were fine-mapped to disentangle their underlying mechanisms. Haplotyping of c.335dup in two cases suggests a common ancestry. Conclusion This study supports a role for RAX2 as a novel disease gene for recessive IRD, broadening the mutation spectrum from sequence to structural variants and revealing a founder effect. The identification of biallelic RAX2 pathogenic variants in five unrelated families shows that RAX2 loss of function may be a nonnegligible cause of IRD in unsolved ARRP cases

Technical report Transitional Waters Mediterranean Sea GIG: Macroalgae and Angiosperms. European Commission, Bruxelles

European Commission, Technical Repor

Re-oligotrophication trajectories of macrophyte assemblages in Mediterranean coastal lagoons based on 17-year time-series

International audienc

Fiches descriptives des biocénoses benthiques de Méditerranée

International audienc