Genetic variations within human gained enhancer elements affect human brain sulcal morphology.

The expansion of the cerebral cortex is one of the most distinctive changes in the evolution of the human brain. Cortical expansion and related increases in cortical folding may have contributed to emergence of our capacities for high-order cognitive abilities. Molecular analysis of humans, archaic hominins, and non-human primates has allowed identification of chromosomal regions showing evolutionary changes at different points of our phylogenetic history. In this study, we assessed the contributions of genomic annotations spanning 30 million years to human sulcal morphology measured via MRI in more than 18,000 participants from the UK Biobank. We found that variation within brain-expressed human gained enhancers, regulatory genetic elements that emerged since our last common ancestor with Old World monkeys, explained more trait heritability than expected for the left and right calloso-marginal posterior fissures and the right central sulcus. Intriguingly, these are sulci that have been previously linked to the evolution of locomotion in primates and later on bipedalism in our hominin ancestors

ENIGMA and global neuroscience: A decade of large-scale studies of the brain in health and disease across more than 40 countries.

This review summarizes the last decade of work by the ENIGMA (Enhancing NeuroImaging Genetics through Meta Analysis) Consortium, a global alliance of over 1400 scientists across 43 countries, studying the human brain in health and disease. Building on large-scale genetic studies that discovered the first robustly replicated genetic loci associated with brain metrics, ENIGMA has diversified into over 50 working groups (WGs), pooling worldwide data and expertise to answer fundamental questions in neuroscience, psychiatry, neurology, and genetics. Most ENIGMA WGs focus on specific psychiatric and neurological conditions, other WGs study normal variation due to sex and gender differences, or development and aging; still other WGs develop methodological pipelines and tools to facilitate harmonized analyses of "big data" (i.e., genetic and epigenetic data, multimodal MRI, and electroencephalography data). These international efforts have yielded the largest neuroimaging studies to date in schizophrenia, bipolar disorder, major depressive disorder, post-traumatic stress disorder, substance use disorders, obsessive-compulsive disorder, attention-deficit/hyperactivity disorder, autism spectrum disorders, epilepsy, and 22q11.2 deletion syndrome. More recent ENIGMA WGs have formed to study anxiety disorders, suicidal thoughts and behavior, sleep and insomnia, eating disorders, irritability, brain injury, antisocial personality and conduct disorder, and dissociative identity disorder. Here, we summarize the first decade of ENIGMA's activities and ongoing projects, and describe the successes and challenges encountered along the way. We highlight the advantages of collaborative large-scale coordinated data analyses for testing reproducibility and robustness of findings, offering the opportunity to identify brain systems involved in clinical syndromes across diverse samples and associated genetic, environmental, demographic, cognitive, and psychosocial factors

ENIGMA and global neuroscience: A decade of large-scale studies of the brain in health and disease across more than 40 countries

This review summarizes the last decade of work by the ENIGMA (Enhancing NeuroImaging Genetics through Meta Analysis) Consortium, a global alliance of over 1400 scientists across 43 countries, studying the human brain in health and disease. Building on large-scale genetic studies that discovered the first robustly replicated genetic loci associated with brain metrics, ENIGMA has diversified into over 50 working groups (WGs), pooling worldwide data and expertise to answer fundamental questions in neuroscience, psychiatry, neurology, and genetics. Most ENIGMA WGs focus on specific psychiatric and neurological conditions, other WGs study normal variation due to sex and gender differences, or development and aging; still other WGs develop methodological pipelines and tools to facilitate harmonized analyses of "big data" (i.e., genetic and epigenetic data, multimodal MRI, and electroencephalography data). These international efforts have yielded the largest neuroimaging studies to date in schizophrenia, bipolar disorder, major depressive disorder, post-traumatic stress disorder, substance use disorders, obsessive-compulsive disorder, attention-deficit/hyperactivity disorder, autism spectrum disorders, epilepsy, and 22q11.2 deletion syndrome. More recent ENIGMA WGs have formed to study anxiety disorders, suicidal thoughts and behavior, sleep and insomnia, eating disorders, irritability, brain injury, antisocial personality and conduct disorder, and dissociative identity disorder. Here, we summarize the first decade of ENIGMA's activities and ongoing projects, and describe the successes and challenges encountered along the way. We highlight the advantages of collaborative large-scale coordinated data analyses for testing reproducibility and robustness of findings, offering the opportunity to identify brain systems involved in clinical syndromes across diverse samples and associated genetic, environmental, demographic, cognitive, and psychosocial factors

ENIGMA and global neuroscience: A decade of large-scale studies of the brain in health and disease across more than 40 countries

This review summarizes the last decade of work by the ENIGMA (Enhancing NeuroImaging Genetics through Meta Analysis) Consortium, a global alliance of over 1400 scientists across 43 countries, studying the human brain in health and disease. Building on large-scale genetic studies that discovered the first robustly replicated genetic loci associated with brain metrics, ENIGMA has diversified into over 50 working groups (WGs), pooling worldwide data and expertise to answer fundamental questions in neuroscience, psychiatry, neurology, and genetics. Most ENIGMA WGs focus on specific psychiatric and neurological conditions, other WGs study normal variation due to sex and gender differences, or development and aging; still other WGs develop methodological pipelines and tools to facilitate harmonized analyses of "big data" (i.e., genetic and epigenetic data, multimodal MRI, and electroencephalography data). These international efforts have yielded the largest neuroimaging studies to date in schizophrenia, bipolar disorder, major depressive disorder, post-traumatic stress disorder, substance use disorders, obsessive-compulsive disorder, attention-deficit/hyperactivity disorder, autism spectrum disorders, epilepsy, and 22q11.2 deletion syndrome. More recent ENIGMA WGs have formed to study anxiety disorders, suicidal thoughts and behavior, sleep and insomnia, eating disorders, irritability, brain injury, antisocial personality and conduct disorder, and dissociative identity disorder. Here, we summarize the first decade of ENIGMA's activities and ongoing projects, and describe the successes and challenges encountered along the way. We highlight the advantages of collaborative large-scale coordinated data analyses for testing reproducibility and robustness of findings, offering the opportunity to identify brain systems involved in clinical syndromes across diverse samples and associated genetic, environmental, demographic, cognitive, and psychosocial factors

Aspects génétiques de l'activité mnémonique chez l'enfant sourd et entendant: Les Enfants handicapés

info:eu-repo/semantics/publishe

Aspects génétiques de l'activité mnémonique chez l'enfant sourd et l'enfant entendant

info:eu-repo/semantics/publishe

The benthic megafaunal assemblages of the CCZ (Eastern Pacific) and an approach to their management in the face of threatened anthropogenic impacts

We present here the results of a UNESCO/IOC baseline study of the megafaunal assemblages of the polymetallic nodule ecosystem of 5 areas within the Clarion Clipperton Zone (CCZ) of the eastern Pacific Ocean. The work was undertaken with a view to investigating the structure of the epifaunal populations associated with the benthic biotopes being targeted for nodule mining and developing an appropriate set of management tools and options. The general characteristics of nodule ecosystem and assemblages and their sensitivity to deep-sea mining are discussed in relation to water masses, surface to seabed water circulation, the nepheloid layer and processes taking place at the sediment interface. Management tools considered include species diversity and vulnerability indexes, GIS systems, zoning, and 3D rapid environmental assessment (REA). These strategies are proposed for trial during pilot mining operations within the CCZ

Axial morphology of the East-Pacific Rise crest at its intersection with the Mathematician hot-spot: results of the PARISUB'2010 cruise

International audienceThe PARISUB cruise was led in 2010 using the R/V L'Atalante, the Autonomous Underwater Vehicle (AUV) AsterX and the manned submersible Nautile (Ifremer). The goal was to investigate the processes that occur during the interaction between the Mathematicians hotspot and the East-Pacific Rise at 16°N. The present spreading axis has an elevation of at least 400m above the average depth of the North Pacific ridge, indicating a high magmatic production. Lava previously sampled in this area are enriched in incompatible elements and isotopically, revealing so the contribution of an enriched end member of the mantle, i.e. the plume Surface geophysical data (multibeam bathymetry, gravity, magnetism) and near-bottom data (high-resolution bathymetry, gravity, magnetism, plume mapping) acquired during the cruise are used to measure tectonic structures, to individualize volcanic flows in relation with axial density variations and magnetic micro-anomalies. Here we present the results of the first high-resolution mapping of the ridge crest at 16°N using AUV. The maps, combined with visual ground truthing, show that most of the flows originate at the axial summit graben. Most often lava has drained fully or partially such that the point sources of the flow can be localized. Despite an expected high effusion rate, lobate flows predominate over sheet flows. Pillow flows are also well-represented, they constitute the most prominent volcanic structures of the area. The structure of the axial summit graben strongly varies along-axis. It is segmented with segments that trend differently (up to 5° of difference in their orientation). In some areas, the axial graben consists in one unique, well-depicted narrow graben. In other places, it consists in two narrow and parallel grabens. At last, at 15°46'N, the axial summit graben is much wider and it is constituted of numerous normal faults. At that location, the tectonic deformation is much less localized and the number of normal faults that form the graben is higher than elsewhere in the studied area, and the tectonic structures are little obscured by volcanic flows, compared to other segments of the axial graben. This area of widely distributed deformation coincides with a global slight change in the spreading center orientation

Complex Dyke Emplacement at the Hyper-Inflated EPR 16°N Segment

International audienceThe EPR segment located between 15°22'N and 16°15'N (hereafter referred as EPR 16°N) presents a very wide (~13 km at the widest) and quite shallow (~2300 m) axial dome and is clearly over-inflated with respect to typical magmatically robust segments of the EPR. This segment is located at the intersection of the EPR with the Mathematician seamount chain, suggesting some kind of ridge-hotspot interaction which would account for the over-inflation. As a consequence of such an interaction, it has also been suggested that the ridge axis may episodically relocate further west to maintain the ridge-hotspot connection. Cruise Parisub of R/V L'Atalante took place in March-April 2010 and used Deep Sea Submersible Nautile and Autonomous Underwater Vehicle Aster-X to study this problem. The area was surveyed using L'Atalante new Simrad EM 122 echo-sounder, and a few sea-surface magnetic profiles were added to the existing data set. A higher resolution swath was achieved at a slower speed on the axial dome. AUV Aster-X completed a 30 x 4 km wide survey of the axial zone at an altitude of 70 m, collecting high resolution multibeam bathymetry and imagery, magnetics, and nephelometry. A total of 24 successful Nautile dives was carried out with videos and photos, rock sampling, and magnetic data collection, making an axial cross section up to 300 ka off-axis to investigate the inferred ridge jumps (10 Nautile dives), and a set of along axis dives to identify the active volcanic axis and search for active and fossil hydrothermal sites (13 Nautile dives). During these dives, several active and inactive hydrothermal vents have been discovered. In this presentation, we focus on the AUV survey. Unlike most fast spreading centres, which display one clear axial graben at the summit of the axial dome, the hyper-inflated dome at 16°N presents a complex set of several grabens, among which it is difficult to decipher which one are volcanically active and may be considered as the neovolcanic zone. To this end, we have used the magnetic data, adequately corrected for the effect of the AUV and reduced to total field anomaly. The resulting magnetic map shows a set on negative anomalies associated to some - but not all - grabens and help to discriminate between recently active and inactive grabens. Indeed, such negative anomalies have already been observed by Shah et al. (JGR, 2003) on the EPR at 17°28'S and 18°37'S and interpreted as marking the presence of hot dyke swarms, warmer than the Curie temperature, and the associated demagnetization of nearby basalt. Forward modelling by these authors suggests that such an anomaly can remain during about century. On the EPR 16°N, the presence of several anomalies suggests that, in some areas, several dyke swarms are "simultaneously" active (at the scale of a century). The intensity of these anomalies may reflect the size and/or the age of the dyke swarms, the stronger anomalies corresponding to the larger and/or the hottest (and therefore most recent) dykes