15 research outputs found

    Building partnership capacity for the collaborative management of marine protected areas in the UK

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    This paper reports the findings of a preliminary analysis of 15 case studies of inshore marine protected areas in the UK. It draws on the common-pool resource (CPR) literature and is premised on the thesis that building partnership capacity amongst relevant authorities and resource users provides a critical basis for overcoming collective action problems (CAPs), through the development of incentive structures and social capital, in order to achieve strategic objectives. Particular attention is paid to the influence of statutory marine biodiversity conservation obligations to the European Commission for marine special areas of conservation (MSACs), as these are an important external contextual factor. The risks of imposition and parochialism are outlined and the challenges of taking a balanced approach are discussed. The challenges posed by the attributes of the marine environment are considered, as are those posed by the policy framework for MSACs. The findings are discussed in relation to three questions: (i) which partnership models appear to have the potential to overcome the CAPs posed by inshore MSACs? (ii) what CAPs had to be addressed during the early phase of development of the MSAC co-management regimes? (iii) what are the likely future CAPs for the collaborative management of MSACs that each partnership will need to address? These preliminary findings will form the basis for future studies to analyse the outcomes of these 15 initiatives, in order to assess the strengths, in various contexts, of different approaches for building resilient and balanced, thereby effective, institutions for the co-management of MSACs in the UK. (c) 2005 Elsevier Ltd. All rights reserved

    Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

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    Contains fulltext : 202928.pdf (publisher's version ) (Open Access)Acetylation of the lysine residues in histones and other DNA-binding proteins plays a major role in regulation of eukaryotic gene expression. This process is controlled by histone acetyltransferases (HATs/KATs) found in multiprotein complexes that are recruited to chromatin by the scaffolding subunit transformation/transcription domain-associated protein (TRRAP). TRRAP is evolutionarily conserved and is among the top five genes intolerant to missense variation. Through an international collaboration, 17 distinct de novo or apparently de novo variants were identified in TRRAP in 24 individuals. A strong genotype-phenotype correlation was observed with two distinct clinical spectra. The first is a complex, multi-systemic syndrome associated with various malformations of the brain, heart, kidneys, and genitourinary system and characterized by a wide range of intellectual functioning; a number of affected individuals have intellectual disability (ID) and markedly impaired basic life functions. Individuals with this phenotype had missense variants clustering around the c.3127G>A p.(Ala1043Thr) variant identified in five individuals. The second spectrum manifested with autism spectrum disorder (ASD) and/or ID and epilepsy. Facial dysmorphism was seen in both groups and included upslanted palpebral fissures, epicanthus, telecanthus, a wide nasal bridge and ridge, a broad and smooth philtrum, and a thin upper lip. RNA sequencing analysis of skin fibroblasts derived from affected individuals skin fibroblasts showed significant changes in the expression of several genes implicated in neuronal function and ion transport. Thus, we describe here the clinical spectrum associated with TRRAP pathogenic missense variants, and we suggest a genotype-phenotype correlation useful for clinical evaluation of the pathogenicity of the variants
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