Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans

Renal hypodysplasia (RHD) is a heterogeneous condition encompassing a spectrum of kidney development defects including renal agenesis, hypoplasia, and (cystic) dysplasia. Heterozygous mutations of several genes have been identified as genetic causes of RHD with various severity. However, these genes and mutations are not associated with bilateral renal agenesis, except for RET mutations, which could be involved in a few cases. The pathophysiological mechanisms leading to total absence of kidney development thus remain largely elusive. By using a whole-exome sequencing approach in families with several fetuses with bilateral renal agenesis, we identified recessive mutations in the integrin α8-encoding gene ITGA8 in two families. Itga8 homozygous knockout in mice is known to result in absence of kidney development. We provide evidence of a damaging effect of the human ITGA8 mutations. These results demonstrate that mutations of ITGA8 are a genetic cause of bilateral renal agenesis and that, at least in some cases, bilateral renal agenesis is an autosomal-recessive disease

Une supervision dynamique pour la gestion des alarmes au CERN

For Arc Informatique, whose software of supervision was selected by the contractor Spie to set up a new system of management of alarms on the whole site of CERN, it's a real challenge.(4 pages

Impact of post-depositional processes on charcoal fragmentation and archaeobotanical implications: Experimental approach combining charcoal analysis and biomechanics

International audienceGenerallyspeaking,charcoalanalysisisbasedonidentifyingandcountingcharcoalfragmentsinordertocalculatetherelativevariationsintaxafrequency.Allpost-depositionalprocessesarelikelytoinducefragmentationoftheanthracologicalmaterial,raisingthequestionoftherepresentativenessoftaxa.Basedonaninnovativeexperimentalapproachcombiningbothcharcoalanalysisandbiomechanics,thispaperexploreshowthemechanicalpropertiesofcharcoalcaninfluencethefragmentationandthequantificationofspeciesinanthracologicalassemblages.Wecarriedoutstandardizedlaboratorycompressiontestson302samplesissuedfrom10taxa,charredatthreedifferenttemperatures,inordertocharacterizethemechanicalpropertiesofcommonspeciesintemperateandMediterraneanEurope.Ourresultshighlightthedifferentialresponsesofthetestedspeciesintermsofresistancetocompressionandfragmentation,twoprocesseswhichdonotappeartobecorrelated.Charcoalisveryresistanttopressure(upto22.5MPa).Ourresultsshowthatsignificantfragmentationdifferencesexistbetweentaxa.Thetotalnumberoffragmentsaftercompressionislargelydependentonthespecies,regardlessofthecharringtemperature.However,thisinterspecificvariabilityismoresignificantforsmallfragments[1e2mm],thanforlargerfragments[2e4mm]and>4mm,withtheexceptionofQuercus,whichdisplaysdifferentialreactionstocompression.Finally,amultifactorialanalysisbringstolighttheimpactofthephysicalandanatomicalcharacteristicsofthedifferentspeciesoncharcoalfragmentatio

Les derniers quarante-mille ans du Paléolithique moyen en Ile-de-France (80-40 ka) : Lacunes et nouvelles perspectives au voisinage des affleurements de sables stampiens

National audienc

Les derniers quarante-mille ans du Paléolithique moyen en Ile-de-France (80-40 ka) : Lacunes et nouvelles perspectives au voisinage des affleurements de sables stampiens

National audienc

Monitoring Sea Level and Topography of Coastal Lagoons Using Satellite Radar Altimetry: The Example of the Arcachon Bay in the Bay of Biscay

(IF 4.12; Q1)International audienceRadar altimetry was initially designed to measure the marine geoid. Thanks to the improvement in the orbit determination from the meter to the centimeter level, this technique has been providing accurate measurements of the sea surface topography over the open ocean since the launch of Topex/Poseidon in 1992. In spite of a decrease in the performance over land and coastal areas, it is now commonly used over these surfaces. This study presents a semi-automatic method that allows us to discriminate between acquisitions performed at high tides and low tides. The performances of four radar altimetry missions (ERS-2, ENVISAT, SARAL, and CryoSat-2) were analyzed for the retrieval of sea surface height and, for the very first time, of the intertidal zone topography in a coastal lagoon. The study area is the Arcachon Bay located in the Bay of Biscay. The sea level variability of the Arcachon Bay is characterized by a standard deviation of 1.05 m for the records used in this study (2001-2017). Sea surface heights are very well retrieved for SARAL (R~0.99 and RMSE 0.93 and RMSE 0.82 but with a higher RMSE >0.92 m). For the topography of the intertidal zone, very good estimates were also obtained using SARAL (R~0.71) and CryoSat-2 (R~0.79) with RMSE lower than 0.44 m for both missions

Extreme reduction and compaction of microsporidian genomes.

International audienceMicrosporidia are fungi-related obligate intracellular parasites with a highly reduced and compact genome, as for Encephalitozoon species which harbor a genome smaller than 3 Mbp. Genome compaction is reflected by high gene density and, for larger microsporidian genomes, size variation is due to repeat elements that do not drastically affect gene density. Furthermore, these pathogens present strong host dependency illustrated by extensive gene loss. Such adaptations associated with genome compaction induced gene size reduction but also simplification of cellular processes such as transcription. Thus, microsporidia are excellent models for eukaryotic genome evolution and gene expression in the context of host-pathogen relationships

Les derniers quarante-milles ans du Paléolithique moyen en Île-de-France (80-40 ka) : lacunes et nouvelles perspectives au voisinage des affleurements de sables stampiens

International audienceDieser Artikel versucht eine Bestandsaufnahme der Spuren vorzuschlagen, die von einer Besiedlung der Île-de-France am Ende des Mittelpaläolithikums (75-40 Ka BP) zeugen. Ebenso wie im Pariser Becken wurden die Siedlungsspuren der letzten Neandertaler in den regionalen Studien lange vernachlässigt, insbesondere aufgrund der taphonomischen Filter, welche die Registrierung der Freilandstationen des Weichsel-Pleniglazials betreffen. In den letzten zehn Jahren wurden zunehmend Indizien regisitriert, die gut datiert waren und/oder typotechnologische Ähnlichkeiten mit Entdeckungen in Nachbarregionen aufwiesen. Aufgrund der Beobachtung bedeutender sedimentärer Unterschiede im Pariser Becken im unteren und mittleren Pleniglazial muss auf die Besonderheiten, Begrenzungen und Opportunitäten des regionalen Kontextes eingegangen werden. Unter diesem Gesichtspunkt werden neben neueren Entdeckungen aus Prospektionen und Plangrabungen auch ältere Funde berücksichtigt. Die Ergebnisse bekräftigen die Bedeutung der in der Landschaft der Ile de France sehr häufigen Hänge, an denen „Sand aus Fontainebleau” ansteht und die sehr geeignete und zuweilen aussergewöhnliche „fenêtres de conservation” darstellen. Dies illustriert insbesondere der Fundplatz „Les Bossats“, in Ormesson (Departement Seine-et-Marnes) . Seine pleniglaziale Sequenz und das Niveau 4 mit Diskoiden, das unter einem Niveau des Châtelperronien liegt, eröffnen seltene Perspektiven auf die Erforschung der letzten Neandertaler Nordeuropas. Der Artikel präsentiert den Kenntnisstand der mittelpaläolithischen Steinindustrien dieses Fundplatzes.This article attempts an overview of the evidence of settlements that can be studied at the end of the Middle Paleolithic period (75-40 Ka BP) in Île-de-France. As in the Paris Basin, the last Neanderthal settlements have long been the poor relative of regional research, particularly because of taphonomic filters affecting the outdoor recording of the Weichselian glaciation. However, the last decade has seen a multiplication of either well dated evidence or evidence sharing strong typo-technological affinities with discoveries made in various neighbouring regions. Noting the significant sedimentary disparities across the Paris Basin during the Lower and Middle Pleniglacials, it is necessary to return to specifics, limitations and opportunities offered by the regional context. It is from this perspective that recent discoveries, and older evidence, are examined in the preventive and programmed framework. The report reaffirms the interest in the slopes with outcrops of sand of Fontainebleau, very present in the Ile-de-France landscape and which seem to offer «windows of conservation» which are favourable and sometimes exceptional. This is illustrated by the Bossats site in Ormesson (Seine-et-Marne). Its glacial sequence and the discoidal industry of level 4, under a Chatelperronien level, open up rare perspectives for the study of the last Neandertal populations of northern Europe. The article provides a report on the Middle Paleolithic industries of this site.Cet article tente un tour d’horizon des indices de peuplements rapportables à la fin du Paléolithique moyen (75-40 ka BP), en Île-de-France. A l’instar de ce qui s’observe dans le Bassin parisien, les derniers peuplements néandertaliens ont longtemps constitué un parent pauvre des recherches régionales, notamment en raison de filtres taphonomiques affectant l’enregistrement de plein air du Pléniglaciaire weichséelien. La dernière décennie a cependant vu une multiplication d’indices, bien datés ou partageant de fortes affinités typotechnologiques avec des découvertes réalisées dans diverses régions limitrophes. Prenant acte d’importante disparités sédimentaires à travers le Bassin parisien et durant les temps du Pléniglaciaire inférieur et moyen, il convient de revenir sur les spécificités, limitations, et opportunités offertes par le contexte régional. C’est sous cet angle que sont examinées les découvertes récentes, dans le cadre préventif et programmé, mais aussi plus anciennes. Le bilan réaffirme l’intérêt des versants à affleurements de « sables et grès de Fontainebleau », très présents dans le paysage franciliens et qui semblent offrir des « fenêtres de conservation » propices, parfois exceptionnelles. C’est notamment ce qu’illustre le site des Bossats, à Ormesson (Seine-et-Marne). Sa séquence pléniglaciaire et le niveau 4 à industrie discoïde, sous un niveau du Châtelperronien, ouvrent des perspectives rares sur l’étude des dernières populations néandertaliennes d’Europe septentrionale. L’article offre un état des connaissances sur les industries du Paléolithique moyen de ce site

Les derniers quarante-milles ans du Paléolithique moyen en Île-de-France (80-40 ka) : lacunes et nouvelles perspectives au voisinage des affleurements de sables stampiens

International audienceDieser Artikel versucht eine Bestandsaufnahme der Spuren vorzuschlagen, die von einer Besiedlung der Île-de-France am Ende des Mittelpaläolithikums (75-40 Ka BP) zeugen. Ebenso wie im Pariser Becken wurden die Siedlungsspuren der letzten Neandertaler in den regionalen Studien lange vernachlässigt, insbesondere aufgrund der taphonomischen Filter, welche die Registrierung der Freilandstationen des Weichsel-Pleniglazials betreffen. In den letzten zehn Jahren wurden zunehmend Indizien regisitriert, die gut datiert waren und/oder typotechnologische Ähnlichkeiten mit Entdeckungen in Nachbarregionen aufwiesen. Aufgrund der Beobachtung bedeutender sedimentärer Unterschiede im Pariser Becken im unteren und mittleren Pleniglazial muss auf die Besonderheiten, Begrenzungen und Opportunitäten des regionalen Kontextes eingegangen werden. Unter diesem Gesichtspunkt werden neben neueren Entdeckungen aus Prospektionen und Plangrabungen auch ältere Funde berücksichtigt. Die Ergebnisse bekräftigen die Bedeutung der in der Landschaft der Ile de France sehr häufigen Hänge, an denen „Sand aus Fontainebleau” ansteht und die sehr geeignete und zuweilen aussergewöhnliche „fenêtres de conservation” darstellen. Dies illustriert insbesondere der Fundplatz „Les Bossats“, in Ormesson (Departement Seine-et-Marnes) . Seine pleniglaziale Sequenz und das Niveau 4 mit Diskoiden, das unter einem Niveau des Châtelperronien liegt, eröffnen seltene Perspektiven auf die Erforschung der letzten Neandertaler Nordeuropas. Der Artikel präsentiert den Kenntnisstand der mittelpaläolithischen Steinindustrien dieses Fundplatzes.This article attempts an overview of the evidence of settlements that can be studied at the end of the Middle Paleolithic period (75-40 Ka BP) in Île-de-France. As in the Paris Basin, the last Neanderthal settlements have long been the poor relative of regional research, particularly because of taphonomic filters affecting the outdoor recording of the Weichselian glaciation. However, the last decade has seen a multiplication of either well dated evidence or evidence sharing strong typo-technological affinities with discoveries made in various neighbouring regions. Noting the significant sedimentary disparities across the Paris Basin during the Lower and Middle Pleniglacials, it is necessary to return to specifics, limitations and opportunities offered by the regional context. It is from this perspective that recent discoveries, and older evidence, are examined in the preventive and programmed framework. The report reaffirms the interest in the slopes with outcrops of sand of Fontainebleau, very present in the Ile-de-France landscape and which seem to offer «windows of conservation» which are favourable and sometimes exceptional. This is illustrated by the Bossats site in Ormesson (Seine-et-Marne). Its glacial sequence and the discoidal industry of level 4, under a Chatelperronien level, open up rare perspectives for the study of the last Neandertal populations of northern Europe. The article provides a report on the Middle Paleolithic industries of this site.Cet article tente un tour d’horizon des indices de peuplements rapportables à la fin du Paléolithique moyen (75-40 ka BP), en Île-de-France. A l’instar de ce qui s’observe dans le Bassin parisien, les derniers peuplements néandertaliens ont longtemps constitué un parent pauvre des recherches régionales, notamment en raison de filtres taphonomiques affectant l’enregistrement de plein air du Pléniglaciaire weichséelien. La dernière décennie a cependant vu une multiplication d’indices, bien datés ou partageant de fortes affinités typotechnologiques avec des découvertes réalisées dans diverses régions limitrophes. Prenant acte d’importante disparités sédimentaires à travers le Bassin parisien et durant les temps du Pléniglaciaire inférieur et moyen, il convient de revenir sur les spécificités, limitations, et opportunités offertes par le contexte régional. C’est sous cet angle que sont examinées les découvertes récentes, dans le cadre préventif et programmé, mais aussi plus anciennes. Le bilan réaffirme l’intérêt des versants à affleurements de « sables et grès de Fontainebleau », très présents dans le paysage franciliens et qui semblent offrir des « fenêtres de conservation » propices, parfois exceptionnelles. C’est notamment ce qu’illustre le site des Bossats, à Ormesson (Seine-et-Marne). Sa séquence pléniglaciaire et le niveau 4 à industrie discoïde, sous un niveau du Châtelperronien, ouvrent des perspectives rares sur l’étude des dernières populations néandertaliennes d’Europe septentrionale. L’article offre un état des connaissances sur les industries du Paléolithique moyen de ce site

Comparative genomics of microsporidian genomes reveals a minimal non-coding RNA set and new insights for transcription in minimal eukaryotic genomes

Microsporidia are ubiquitous intracellular pathogens whose opportunistic nature led to their increased recognition with the rise of the AIDS pandemic. As the RNA world was largely unexplored in this parasitic lineage, we developed a dedicated in silico methodology to carry out exhaustive identification of ncRNAs across the Encephalitozoon and Nosema genera. Thus, the previously missing U1 small nuclear RNA (snRNA) and small nucleolar RNAs (snoRNAs) targeting only the LSU rRNA were highlighted and were further validated using 5' and 3'RACE-PCR experiments. Overall, the 15 ncRNAs that were found shared between Encephalitozoon and Nosema spp. may represent the minimal core set required for parasitic life. Interestingly, the systematic presence of a CCC-or GGG-like motif in 5' of all ncRNA and mRNA gene transcripts regardless of the RNA polymerase involved suggests that the RNA polymerase machineries in microsporidia species could use common factors. Our data provide additional insights in accordance with the simplification processes observed in these reduce genomes and underline the usefulness of sequencing closely related species to help identify highly divergent ncRNAs in these parasites