Suchergebnisse

Purpose - Environmental threats of immediate risk in areas such as coastal zones (CZ) have aroused new trends of citizenship and participatory democracy. This article intends to analyse elements within those trends, such as environmental culture; socio-political context; dynamics of social associative movement and integration of local knowledge. It also aims to contribute to an overview of the opportunities and barriers found in considering sociocultural and educational challenges in CZ. Design/methodology/approach - In this analysis, case studies of integrated coastal management occurring worldwide were selected and reviewed, considering several nuances of socio-economic and political contexts of CZ. Experiences of public response to coastal catastrophes such the Prestige oil spill in Spain, are also described. Findings – Whether implementing sustainable coastal management through either balanced systems (between large and small-scale strategies) or through largely bottom-up approaches, participation is detected as one of the main factors for a successul integrated approach. Principles such as participatory governance and social justice should be adopted in initial phases of sustainable management processes and preferably involve all of the implied actors of CZ. Originality/value - The literature reviewed provides specific highlights on factors that have empirically contributed to participatory sustainability of CZ, integrating three dimensions of citizenship: education, society's dynamics and culture.

© 2021 by the authors. ; RAD51D loss-of-function variants increase lifetime risk of breast and ovarian cancer. Splicing disruption is a frequent pathogenic mechanism associated with variants in susceptibility genes. Herein, we have assessed the splicing and clinical impact of splice-site and exonic splicing enhancer (ESE) variants identified through the study of ~113,000 women of the BRIDGES cohort. A RAD51D minigene with exons 2–9 was constructed in splicing vector pSAD. Eleven BRIDGES splice-site variants (selected by MaxEntScan) were introduced into the minigene by site-directed mutagenesis and tested in MCF-7 cells. The 11 variants disrupted splicing, collectively generating 25 different aberrant transcripts. All variants but one produced negligible levels (A demonstrated a complete aberrant splicing pattern without the FL transcript. On the other hand, c.214T>C increased efficiency of exon 3 recognition, so only the FL transcript was detected (100%). In conclusion, 41 RAD51D spliceogenic variants (28 of which were from the BRIDGES cohort) were identified by minigene assays. We show that minigene-based mapping of ESEs is a powerful approach for identifying ESE hotspots and ESE-disrupting variants. Finally, we have classified nine variants as likely pathogenic according to ACMG/AMP-based guidelines, highlighting the complex relationship between splicing alterations and variant interpretation. ; P.D., M.P.G.V., D.F.E., M.d.l.H. and E.A.V. have received funding from the European Union's Horizon 2020 research and innovation program under grant agreement no. 634935. E.A.V.'s lab is supported by grants from the Spanish Ministry of Science and Innovation, Plan Nacional de I + D + I 2013–2016, ISCIII (PI17/00227 and PI20/00225), co-funded by FEDER from Regional Development European Funds (European Union) and from the Consejería de Educación, Junta de Castilla y León, ref. CSI242P18 (actuación cofinanciada P.O. FEDER 2014–2020 de Castilla y León). M.d.l.H.'s lab is supported by grants from the Spanish Ministry of Science and Innovation, Plan Nacional de I + D + I 2013–2016, ISCIII (PI15/00059 and PI20/00110) and co-funded by FEDER from Regional Development European Funds (European Union). L.S.-M. is supported by a predoctoral fellowship from the AECC-Scientific Foundation, Sede Provincial de Valladolid (2019–2023). A.V.-P. is supported by a predoctoral fellowship from the Consejería de Educación, Junta de Castilla y León (2018–2022). Programa Estratégico Instituto de Biología y Genética Molecular (IBGM), Escalera de Excelencia, Junta de Castilla y León (Ref. CLU-2019-02).

Abstract
Background
Sustainable production and consumption are two important issues, which mutually interact. Whereas individuals have little direct influence on the former, they can play a key role on the latter. This paper describes the subject matter of sustainable consumption and outlines its key features. It also describes some international initiatives in this field.

Results
By means of an international survey, the study explores the emphasis given to sustainable consumption during the second wave of the COVID-19 pandemic, and the degree of preparedness in individuals to engage in the purchase of green and sustainably manufactured products. The main results indicate that the pandemic offered an opportunity to promote sustainable consumption; nevertheless, the pandemic alone cannot be regarded as a 'game changer' in this topic.

Conclusions
Apart from an online survey with responses from 31 countries, which makes it one of the most representative studies on the topic, a logit model was used to analyse the main variables that affect the probability of pro-environmental consumption behaviour because of the COVID-19 pandemic. The paper lists some of the technological and social innovations that may be needed, so as to guide more sustainable consumption patterns in a post-pandemic world.

Smartphone applications (apps) that target recreational fishers are growing in abundance. These apps have the potential to provide data useful for management of recreational fisheries. We surveyed expert opinion in 20, mostly European, countries to assess the current and future status of app use in marine recreational fisheries. The survey revealed that a few countries already use app data to support existing data collection, and that this number is likely to increase within 5–10 years. The strongest barriers to use app data were a scarcity of useful apps and concern over data quality, especially biases due to the opt-in nature of app use. Experts generally agreed that apps were unlikely to be a "stand-alone" method, at least in the short term, but could be of immediate use as a novel approach to collect supporting data such as, fisheries-specific temporal and spatial distributions of fishing effort, and aspects of fisher behaviour. This survey highlighted the growing interest in app data among researchers and managers, but also the need for government agencies and other managers/researchers to coordinate their efforts with the support of survey statisticians to develop and assess apps in ways that will ensure standardisation, data quality, and utility.

© 2020 by the authors. ; Hereditary breast and/or ovarian cancer is a highly heterogeneous disease with more than 10 known disease-associated genes. In the framework of the BRIDGES project (Breast Cancer Risk after Diagnostic Gene Sequencing), the RAD51C gene has been sequenced in 60,466 breast cancer patients and 53,461 controls. We aimed at functionally characterizing all the identified genetic variants that are predicted to disrupt the splicing process. Forty RAD51C variants of the intron-exon boundaries were bioinformatically analyzed, 20 of which were selected for splicing functional assays. To test them, a splicing reporter minigene with exons 2 to 8 was designed and constructed. This minigene generated a full-length transcript of the expected size (1062 nucleotides), sequence, and structure (Vector exon V1- RAD51C exons_2-8- Vector exon V2). The 20 candidate variants were genetically engineered into the wild type minigene and functionally assayed in MCF-7 cells. Nineteen variants (95%) impaired splicing, while 18 of them produced severe splicing anomalies. At least 35 transcripts were generated by the mutant minigenes: 16 protein-truncating, 6 in-frame, and 13 minor uncharacterized isoforms. According to ACMG/AMP-based standards, 15 variants could be classified as pathogenic or likely pathogenic variants: c.404G > A, c.405-6T > A, c.571 + 4A > G, c.571 + 5G > A, c.572-1G > T, c.705G > T, c.706-2A > C, c.706-2A > G, c.837 + 2T > C, c.905-3C > G, c.905-2A > C, c.905-2_905-1del, c.965 + 5G > A, c.1026 + 5_1026 + 7del, and c.1026 + 5G > T. ; PD: MPGV: DFE: MdlH and EAV have received funding from the European Union's Horizon 2020 research and innovation programme under grant agreement no. 634935. EAV lab is supported by grants from the Spanish Ministry of Science and Innovation, Plan Nacional de I + D+I 2013–2016, ISCIII (PI17/00227) co-funded by FEDER from Regional Development European Funds (European Union) and from the Consejería de Educación, Junta de Castilla y León, ref. CSI242P18 (actuación cofinanciada P.O. FEDER 2014–2020 de Castilla y León). MdlH is supported by grants from the Spanish Ministry of Science and Innovation, Plan Nacional de I + D+I 2013–2016, ISCIII (PI15/00059) co-funded by FEDER from Regional Development European Funds (European Union).