28 research outputs found
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Vertical Zoning in Marine Protected Areas: Ecological Considerations for Balancing Pelagic Fishing with Conservation of Benthic Communities
Marine protected areas (MPAs), ideally, manage human uses that threaten ecosystems, or components of ecosystems. During several recent MPA designation processes, concerns have arisen over the scientific justification for no-take MPAs, particularly those that restrict recreational fishing for pelagic species. An important question is: under what conditions might recreational pelagic fishing be compatible with the conservation goals of an MPA that is primarily focused on benthic Communities? In 2005, an expert workshop of fisheries biologists, marine ecologists, MPA managers, and recreational fishermen was convened by NOAAs National MPA Center to evaluate the limited empirical data on benthic-pelagic coupling and to help provide practical advice on this topic. The participants (i) proposed a preliminary conceptual framework for addressing vertical zoning, (ii) developed preliminary guidelines to consider when evaluating whether to allow or restrict pelagic fishing in an MPA, and (iii) identified future research priorities for understanding benthic-pelagic Coupling. A Suite of ecological conditions where recreational pelagic fishing may not be compatible with benthic conservation were identified: (1) high relief habitats, (2) depths shallower than 50-100 m (depending upon the specific location), (3) major topographic and oceanographic features, and (4) spawning areas. Similarly, pelagic fishing is not likely to affect benthic communities adversely in many circumstances. Until further scientific study can shed more light on the issue of how benthic-pelagic linkages affect specific conservation targets, the proposed framework in this manuscript provides practical, easily-applied guidance for using vertical zoning to manage fishing in multiple use MPAs that focus on benthic conservation.Areas Marinas Protegidas (AMP) idealmente, administran el uso humano que amenaza los ecosistemas o sus componentes. Durante el actual proceso de declaracion de AMP, han surgido algunas preocupaciones acerca de la justificacion cientifica para establecer areas de no pesca, particularmente aquellas que restringen la pesca recreativa de especies pelagicas. Una pregunta importante es QQQ ?bajo que condiciones la pesca pelagica recreativa es compatible con los objetivos de conservacion de un AMP que se enfoca principalmente en comunidades bentonicas? En 2005, un taller de expertos en biologia pesquera, ecologfa marina, manejo de AMP y Pescadores recreativos fue convocado por el Centra Nacional de AMP de la NOAA para evaluar los pocos datos empiricos del acoplamiento entre los sistemas pelagico y bentonico, y ofrecer asesoria practica sobre el tema. Los participantes (i) propusieron un marco conceptual preliminar para abordar el tema de la zonacion vertical, (ii) desarrollar directrices preliminares para que cuando se haga una evaluation si se permite o restringe la pesca pelagica dentro de la AMP, y (iii) identificar futuras lineas de investigation para comprender mejor el acoplamiento entre el bentos y el sistema pelagico. Se identifico una serie de condiciones ecologicas en las que la pesca recreativa pelagica puede no ser compatible con la conservacion del bentos: (1) habitat de alto relieve, (2) profundidades menores a 50 m-100 m (dependiendo de la zona), (3) caracteristicas oceanograficas y topograficas sobresalientes, y (4) areas de desove. De igual forma, bajo varias circunstancias, la pesca pelagica puede no afectar las comunidades bentonicas. Hasta que los estudios cientificos brinden mas information acerca de como las relaciones entre el bentos y el ambiente pelagico afectan los objetivos especificos de la conservacion, el contexto propuesto en este trabajo provee una guia practica y de facil aplicacion para utilizar la zonacion vertical en el manejo pesquero en varios aspectos de las AMP que se enfocan en la conservacion del bentos.Keywords: Trophic level, Marine protected areas, Pelagic fisheries, Conservatio
Vertical Zoning in Marine Protected Areas: Ecological Considerations for Balancing Pelagic Fishing with Conservation of Benthic Communities
Marine protected areas (MPAs), ideally, manage human uses that threaten ecosystems, or components of ecosystems. During several recent MPA designation processes, concerns have arisen over the scientific justification for no-take MPAs, particularly those that restrict recreational fishing for pelagic species. An important question is: under what conditions might recreational pelagic fishing be compatible with the conservation goals of an MPA that is primarily focused on benthic communities? In 2005, an expert workshop of fisheries biologists, marine ecologists, MPA managers, and recreational fishermen was convened by NOAA\u27s National MPA Center to evaluate the limited empirical data on benthic-pelagic coupling and to help provide practical advice on this topic. The participants (i) proposed a preliminary conceptual framework for addressing vertical zoning, (ii) developed preliminary guidelines to consider when evaluating whether to allow or restrict pelagic fishing in an MPA, and (iii) identified future research priorities for understanding benthic-pelagic coupling. A suite of ecological conditions where recreational pelagic fishing may not be compatible with benthic conservation were identified: (1) high relief habitats, (2) depths shallower than 50–100 m (depending upon the specific location), (3) major topographic and oceanographic features, and (4) spawning areas. Similarly, pelagic fishing is not likely to affect benthic communities adversely in many circumstances. Until further scientific study can shed more light on the issue of how benthic-pelagic linkages affect specific conservation targets, the proposed framework in this manuscript provides practical, easily-applied guidance for using vertical zoning to manage fishing in multiple use MPAs that focus on benthic conservation
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Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome (NODRS)
The endocannabinoid system is a highly conserved and ubiquitous signalling pathway with broad-ranging effects. Despite critical pathway functions, gene variants have not previously been conclusively linked to human disease. We identified nine children from eight families with heterozygous, de novo truncating variants in the last exon of DAGLA with a neuro-ocular phenotype characterized by developmental delay, ataxia and complex oculomotor abnormality. All children displayed paroxysms of nystagmus or eye deviation accompanied by compensatory head posture and worsened incoordination most frequently after waking. RNA sequencing showed clear expression of the truncated transcript and no differences were found between mutant and wild-type DAGLA activity. Immunofluorescence staining of patient-derived fibroblasts and HEK cells expressing the mutant protein showed distinct perinuclear aggregation not detected in control samples. This report establishes truncating variants in the last DAGLA exon as the cause of a unique paediatric syndrome. Because enzymatic activity was preserved, the observed mislocalization of the truncated protein may account for the observed phenotype. Potential mechanisms include DAGLA haploinsufficiency at the plasma membrane or dominant negative effect. To our knowledge, this is the first report directly linking an endocannabinoid system component with human genetic disease and sets the stage for potential future therapeutic avenues
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A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder
PurposeDiphthamide is a post-translationally modified histidine essential for messenger RNA translation and ribosomal protein synthesis. We present evidence for DPH5 as a novel cause of embryonic lethality and profound neurodevelopmental delays (NDDs).MethodsMolecular testing was performed using exome or genome sequencing. A targeted Dph5 knockin mouse (C57BL/6Ncrl-Dph5em1Mbp/Mmucd) was created for a DPH5 p.His260Arg homozygous variant identified in 1 family. Adenosine diphosphate-ribosylation assays in DPH5-knockout human and yeast cells and in silico modeling were performed for the identified DPH5 potential pathogenic variants.ResultsDPH5 variants p.His260Arg (homozygous), p.Asn110Ser and p.Arg207Ter (heterozygous), and p.Asn174LysfsTer10 (homozygous) were identified in 3 unrelated families with distinct overlapping craniofacial features, profound NDDs, multisystem abnormalities, and miscarriages. Dph5 p.His260Arg homozygous knockin was embryonically lethal with only 1 subviable mouse exhibiting impaired growth, craniofacial dysmorphology, and multisystem dysfunction recapitulating the human phenotype. Adenosine diphosphate-ribosylation assays showed absent to decreased function in DPH5-knockout human and yeast cells. In silico modeling of the variants showed altered DPH5 structure and disruption of its interaction with eEF2.ConclusionWe provide strong clinical, biochemical, and functional evidence for DPH5 as a novel cause of embryonic lethality or profound NDDs with multisystem involvement and expand diphthamide-deficiency syndromes and ribosomopathies
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Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples
The Genome Empowerment Scale (GEmS), developed as a research tool, assesses perspectives of parents of children with undiagnosed disorders about to undergo exome or genome sequencing related to the process of empowerment. We defined genomic healthcare empowerment as follows: perceived ability to understand and seek new information related to the genomic sequencing, manage emotions related to the diagnostic process and outcomes, and utilize genomic sequencing information to the betterment of the individual/child and family. The GEmS consists of four scales, two are primarily emotion-focused (Meaning of a Diagnosis, and Emotional Management of the Process) and two are action-oriented (Seeking Information and Support, and Implications and Planning). The purpose of this research was to provide a strategy for interpreting results from the GEmS and present illustrative cases. These illustrations should serve to facilitate use of the GEmS in the clinical and research arena, particularly with respect to guiding genetic counseling processes for parents of children with undiagnosed conditions
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De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects
Cadherins constitute a family of transmembrane proteins that mediate calcium-dependent cell-cell adhesion. The extracellular domain of cadherins consists of extracellular cadherin (EC) domains, separated by calcium binding sites. The EC interacts with other cadherin molecules in cis and in trans to mechanically hold apposing cell surfaces together. CDH2 encodes N-cadherin, whose essential roles in neural development include neuronal migration and axon pathfinding. However, CDH2 has not yet been linked to a Mendelian neurodevelopmental disorder. Here, we report de novo heterozygous pathogenic variants (seven missense, two frameshift) in CDH2 in nine individuals with a syndromic neurodevelopmental disorder characterized by global developmental delay and/or intellectual disability, variable axon pathfinding defects (corpus callosum agenesis or hypoplasia, mirror movements, Duane anomaly), and ocular, cardiac, and genital anomalies. All seven missense variants (c.1057G>A [p.Asp353Asn]; c.1789G>A [p.Asp597Asn]; c.1789G>T [p.Asp597Tyr]; c.1802A>C [p.Asn601Thr]; c.1839C>G [p.Cys613Trp]; c.1880A>G [p.Asp627Gly]; c.2027A>G [p.Tyr676Cys]) result in substitution of highly conserved residues, and six of seven cluster within EC domains 4 and 5. Four of the substitutions affect the calcium-binding site in the EC4-EC5 interdomain. We show that cells expressing these variants in the EC4-EC5 domains have a defect in cell-cell adhesion; this defect includes impaired binding in trans with N-cadherin-WT expressed on apposing cells. The two frameshift variants (c.2563_2564delCT [p.Leu855Valfs∗4]; c.2564_2567dupTGTT [p.Leu856Phefs∗5]) are predicted to lead to a truncated cytoplasmic domain. Our study demonstrates that de novo heterozygous variants in CDH2 impair the adhesive activity of N-cadherin, resulting in a multisystemic developmental disorder, that could be named ACOG syndrome (agenesis of corpus callosum, axon pathfinding, cardiac, ocular, and genital defects)
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects
International audienceCadherins constitute a family of transmembrane proteins that mediate calcium-dependent cell-cell adhesion. The extracellular domain of cadherins consists of extracellular cadherin (EC) domains, separated by calcium binding sites. The EC interacts with other cadherin molecules in cis and in trans to mechanically hold apposing cell surfaces together. CDH2 encodes N-cadherin, whose essential roles in neural development include neuronal migration and axon pathfinding. However, CDH2 has not yet been linked to a Mendelian neurodevelopmental disorder. Here, we report de novo heterozygous pathogenic variants (seven missense, two frameshift) in CDH2 in nine individuals with a syndromic neurodevelopmental disorder characterized by global developmental delay and/or intellectual disability, variable axon pathfinding defects (corpus callosum agenesis or hypoplasia, mirror movements, Duane anomaly), and ocular, cardiac, and genital anomalies. All seven missense variants (c.1057G>A [p.Asp353Asn]; c.1789G>A [p.Asp597Asn]; c.1789G>T [p.Asp597Tyr]; c.1802A>C [p.Asn601Thr]; c.1839C>G [p.Cys613Trp]; c.1880A>G [p.Asp627Gly]; c.2027A>G [p.Tyr676Cys]) result in substitution of highly conserved residues, and six of seven cluster within EC domains 4 and 5. Four of the substitutions affect the calcium-binding site in the EC4-EC5 interdomain. We show that cells expressing these variants in the EC4-EC5 domains have a defect in cell-cell adhesion; this defect includes impaired binding in trans with N-cadherin-WT expressed on apposing cells. The two frameshift variants (c.2563_2564delCT [p.Leu855Valfs∗4]; c.2564_2567dupTGTT [p.Leu856Phefs∗5]) are predicted to lead to a truncated cytoplasmic domain. Our study demonstrates that de novo heterozygous variants in CDH2 impair the adhesive activity of N-cadherin, resulting in a multisystemic developmental disorder, that could be named ACOG syndrome (agenesis of corpus callosum, axon pathfinding, cardiac, ocular, and genital defects)