Scale-dependent natural variation in larval nutritional reserves in a marine invertebrate:implications for recruitment and cross-ecosystem coupling

In species with complex life cycles, laboratory studies have shown that variations in the traits of settling larvae can affect post-settlement survival and influence recruitment and benthic− pelagic coupling. However, we still know little about the magnitude and spatial scale of natural trait variation. We studied spatial variation in body size and nutritional reserves (carbon, nitrogen and lipids) of settled cyprids of the barnacle Semibalanus balanoides along the coast of West Scotland. We quantified variation among regions (north vs. south: range ~700 km), locations (~50 km), shores (~10 km) and within shores (~10 m). We also evaluated trait responses to gradients in chlorophyll and shore openness and compared swimming vs. settled cyprids in order to infer the likely influence of costs of substratum search on trait variation. Variability between regions was large, with higher trait values (e.g. carbon cyprid−1: 35 to 50% higher) in the north. Most traits correlated negatively with pelagic chlorophyll a (a proxy for larval/juvenile food availability); this counter-gradient pattern suggests an adaptive role of increased reserves, buffering benthic juveniles from low food availability during the critical early post-settlement period. Body size and nitrogen content correlated positively with shore openness; lower than expected carbon content suggest increased costs of substratum search on open shorelines. Higher nitrogen content but lower percent carbon was found in settled vs. swimming larvae, suggesting costs of sub - stratum search at the time of settlement. Overall, we uncovered the spatial scales at which trait variation, shaped by pelagic processes, can affect post-metamorphic survival, recruitment and benthic−pelagic coupling

O BAIRRO BELVEDERE COMO COMPARTIMENTO DA PAISAGEM DE BELO HORIZONTE: PROPOSTA DE UMA VISÃO INTEGRADA

Este estudo tem como objetivo a análise do bairro Belvedere como uma paisagem homogeneizável dentro de Belo Horizonte-MG e a identificação das geofácies que compõem essa paisagem. A metodologia utilizada é a proposta por Bertrand (2007), o sistema GTP que possibilita ao pesquisador o estudo das distintas temporalidades e dinâmicas que influem diretamente na configuração da paisagem. O bairro Belvedere é dividido em I, II e III e localiza-se na região centro-sul de Belo Horizonte. Composto litologicamente por filitos e quartzitos, além do relevo escarpado, possui temperaturas amenas, o que o torna um local estratégico e uma barreira natural em relação aos outros bairros. O Belvedere I e II são compostos por mansões tradicionais construídas na década de 1950. O Belvedere III possui prédios luxuosos construídos a partir do ano 2000. No Belvedere, as interações entre os diferentes elementos componentes da paisagem (meio físico e sócio-cultural) fazem deste um local muito atrativo à obtenção de lucros pelo setor imobiliário, mas isso tem provocado impactos ambientais e sociais à cidade. Dessa forma, este estudo promove uma análise integrada sobre os elementos componentes do meio físico e do meio sócio-cultural do Belvedere utilizando a metodologia do sistema GTP proposta por Bertrand (2007), articulando as diferentes territorialidades e temporalidades presentes na construção da paisagem local, tornando-a distinta de seu entorno e também, identificando diferenciações dentro dos seus próprios limites. A utilização da paisagem como categoria de estudo se justifica pela necessidade de uma análise integrada entre o meio físico e sócio-cultural que possa ser utilizada para a prevenção e ou minimização de impactos ambientais além do planejamento e gestão territorial do espaço. Para esse fim, a metodologia proposta por Bertrand traz a possibilidade de reflexões e análises que contemplam esse tipo de abordagem, as quais poderão subsidiar políticas públicas de planejamento e gestão territorial no município

Spatial compositional turnover varies with trophic level and body size in marine assemblages of micro- and macroorganisms

Abstract Aim Spatial compositional turnover varies considerably among co-occurring assemblages of organisms, presumably shaped by common processes related to species traits. We investigated patterns of spatial turnover in a diverse set of marine assemblages using zeta diversity, which extends traditional pairwise measures of turnover to capture the roles of both rare and common species in shaping assemblage turnover. We tested the generality of hypothesized patterns related to ecological traits and provide insights into mechanisms of biodiversity change. Location Temperate pelagic and benthic marine assemblages of micro- and macroorganisms along south-eastern Australia (30–36° S latitude). Time period 2008–2021. Major taxa studied Bacteria, phytoplankton, zooplankton, fish, and macrobenthic groups. Methods Six marine datasets spanning bacteria to fishes were collated for measures of “species” occurrence, with a 1° latitude grain. For each assemblage, ecological traits of body size, habitat and trophic level were analysed for the form and rate of decline in zeta diversity and for the species retention rate. Results Species at higher trophic levels showed two to three times the rate of zeta diversity decline compared with lower trophic levels, indicating an increase in turnover from phytoplankton to carnivorous fishes. Body size showed the hypothesized unimodal relationship with rates of turnover for macroorganisms. Patterns of bacterial turnover contrasted with those found for macroorganisms, with the highest levels of turnover in pelagic habitats compared with benthic (kelp-associated) habitats. The shape of retention rate curves showed the importance of both rare and common species in driving turnover; a finding that would not have been observable using pairwise (beta diversity) measures of turnover. Main conclusions Our results support theoretical predictions for phytoplankton and macroorganisms, showing an increase in turnover rate with trophic level, but these predictions did not hold for bacteria. Such deviations from theory need to be investigated further to identify underlying processes that govern microbial assemblage dynamics

Structural and functional consequences of removing the N-terminal domain from the magnesium chelatase ChlH subunit of Thermosynechococcus elongatus

Magnesium chelatase (MgCH) initiates chlorophyll biosynthesis by catalysing the ATP-dependent insertion of Mg2+ into protoporphyrin. This large enzyme complex comprises ChlH, I and D subunits, with I and D involved in ATP hydrolysis, and H the protein that handles the substrate and product. The 148 kDa ChlH subunit has a globular N-terminal domain attached by a narrow linker to a hollow cage-like structure. Following deletion of this ~18 kDa domain from the Thermosynechoccus elongatus ChlH, we used single particle reconstruction to show that the apo- and porphyrin-bound forms of the mutant subunit consist of a hollow globular protein with three connected lobes; superposition of the mutant and native ChlH structures shows that, despite the clear absence of the N-terminal ‘head’ region, the rest of the protein appears to be correctly folded. Analyses of dissociation constants shows that the ΔN159ChlH mutant retains the ability to bind protoporphyrin and the Gun4 enhancer protein, although the addition of I and D subunits yields an extremely impaired active enzyme complex. Addition of the Gun4 enhancer protein, which stimulates MgCH activity significantly especially at low Mg2+ concentrations, partially reactivates the ΔN159ChlH–I–D mutant enzyme complex, suggesting that the binding site or sites for Gun4 on H do not wholly depend on the N-terminal domain

Solving the conundrum of intra-specific variation in metabolic rate: A multidisciplinary conceptual and methodological toolkit

Researchers from diverse disciplines, including organismal and cellular physiology, sports science, human nutrition, evolution and ecology, have sought to understand the causes and consequences of the surprising variation in metabolic rate found among and within individual animals of the same species. Research in this area has been hampered by differences in approach, terminology and methodology, and the context in which measurements are made. Recent advances provide important opportunities to identify and address the key questions in the field. By bringing together researchers from different areas of biology and biomedicine, we describe and evaluate these developments and the insights they could yield, highlighting the need for more standardisation across disciplines. We conclude with a list of important questions that can now be addressed by developing a common conceptual and methodological toolkit for studies on metabolic variation in animals

New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms

Background: Hyperekplexia mutations have provided much information about glycine receptor structure and function. Results: Weidentified and characterized nine new mutations. Dominant mutations resulted in spontaneous activation, whereas recessive mutations precluded surface expression. Conclusion: These data provide insight into glycine receptor activation mechanisms and surface expression determinants. Significance: The results enhance our understanding of hyperekplexia pathology and glycine receptor structure-function. © 2013 by The American Society for Biochemistry and Molecular Biology, Inc. Published in the U.S.A

Medulloblastoma Exome Sequencing Uncovers Subtype-Specific Somatic Mutations

Medulloblastomas are the most common malignant brain tumors in children1. Identifying and understanding the genetic events that drive these tumors is critical for the development of more effective diagnostic, prognostic and therapeutic strategies. Recently, our group and others described distinct molecular subtypes of medulloblastoma based on transcriptional and copy number profiles2–5. Here, we utilized whole exome hybrid capture and deep sequencing to identify somatic mutations across the coding regions of 92 primary medulloblastoma/normal pairs. Overall, medulloblastomas exhibit low mutation rates consistent with other pediatric tumors, with a median of 0.35 non-silent mutations per megabase. We identified twelve genes mutated at statistically significant frequencies, including previously known mutated genes in medulloblastoma such as CTNNB1, PTCH1, MLL2, SMARCA4 and TP53. Recurrent somatic mutations were identified in an RNA helicase gene, DDX3X, often concurrent with CTNNB1 mutations, and in the nuclear co-repressor (N-CoR) complex genes GPS2, BCOR, and LDB1, novel findings in medulloblastoma. We show that mutant DDX3X potentiates transactivation of a TCF promoter and enhances cell viability in combination with mutant but not wild type beta-catenin. Together, our study reveals the alteration of Wnt, Hedgehog, histone methyltransferase and now N-CoR pathways across medulloblastomas and within specific subtypes of this disease, and nominates the RNA helicase DDX3X as a component of pathogenic beta-catenin signaling in medulloblastoma

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

Polymicrogyria is a malformation of cortical development. The aetiology of polymicrogyria remains poorly understood. Using whole-exome sequencing we found de novo heterozygous missense GRIN1 mutations in 2 of 57 parent-offspring trios with polymicrogyria. We found nine further de novo missense GRIN1 mutations in additional cortical malformation patients. Shared features in the patients were extensive bilateral polymicrogyria associated with severe developmental delay, postnatal microcephaly, cortical visual impairment and intractable epilepsy. GRIN1 encodes GluN1, the essential subunit of the N-methyl-d-aspartate receptor. The polymicrogyria-associated GRIN1 mutations tended to cluster in the S2 region (part of the ligand-binding domain of GluN1) or the adjacent M3 helix. These regions are rarely mutated in the normal population or in GRIN1 patients without polymicrogyria. Using two-electrode and whole-cell voltage-clamp analysis, we showed that the polymicrogyria-associated GRIN1 mutations significantly alter the in vitro activity of the receptor. Three of the mutations increased agonist potency while one reduced proton inhibition of the receptor. These results are striking because previous GRIN1 mutations have generally caused loss of function, and because N-methyl-d-aspartate receptor agonists have been used for many years to generate animal models of polymicrogyria. Overall, our results expand the phenotypic spectrum associated with GRIN1 mutations and highlight the important role of N-methyl-d-aspartate receptor signalling in the pathogenesis of polymicrogyria

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Brain malformations involving the corpus callosum are common in children with developmental disabilities. We identified DCC mutations in four families and five sporadic individuals with isolated agenesis of the corpus callosum (ACC) without intellectual disability. DCC mutations result in variable dominant phenotypes with decreased penetrance, including mirror movements and ACC associated with a favorable developmental prognosis. Possible phenotypic modifiers include the type and location of mutation and the sex of the individual

Mitochondrial physiology

As the knowledge base and importance of mitochondrial physiology to evolution, health and disease expands, the necessity for harmonizing the terminology concerning mitochondrial respiratory states and rates has become increasingly apparent. The chemiosmotic theory establishes the mechanism of energy transformation and coupling in oxidative phosphorylation. The unifying concept of the protonmotive force provides the framework for developing a consistent theoretical foundation of mitochondrial physiology and bioenergetics. We follow the latest SI guidelines and those of the International Union of Pure and Applied Chemistry (IUPAC) on terminology in physical chemistry, extended by considerations of open systems and thermodynamics of irreversible processes. The concept-driven constructive terminology incorporates the meaning of each quantity and aligns concepts and symbols with the nomenclature of classical bioenergetics. We endeavour to provide a balanced view of mitochondrial respiratory control and a critical discussion on reporting data of mitochondrial respiration in terms of metabolic flows and fluxes. Uniform standards for evaluation of respiratory states and rates will ultimately contribute to reproducibility between laboratories and thus support the development of data repositories of mitochondrial respiratory function in species, tissues, and cells. Clarity of concept and consistency of nomenclature facilitate effective transdisciplinary communication, education, and ultimately further discovery