Éditeur(s) : HAL CCSD eLife Sciences Publication
Résumé : International audience
Plastids are supported by a wide range of proteins encoded within the nucleus and imported from the cytoplasm. These plastid-targeted proteins may originate from the endosymbiont, the host, or other sources entirely. Here, we identify and characterise 770 plastid-targeted proteins that are conserved across the ochrophytes, a major group of algae including diatoms, pelagophytes and kelps, that possess plastids derived from red algae. We show that the ancestral ochrophyte plastid proteome was an evolutionary chimera, with 25% of its phylogenetically tractable proteins deriving from green algae. We additionally show that functional mixing of host and plastid proteomes, such as through dual targeting, is an ancestral feature of plastid evolution. Finally, we detect a clear phylogenetic signal from one ochrophyte subgroup, the lineage containing pelagophytes and dictyochophytes, in plastid-targeted proteins from another major algal lineage, the haptophytes. This may represent a possible serial endosymbiosis event deep in eukaryotic evolutionary history.
ISSN: 2050-084X

Droits : http://creativecommons.org/licenses/by/
hal-01526828
http://hal.upmc.fr/hal-01526828
http://hal.upmc.fr/hal-01526828/document
http://hal.upmc.fr/hal-01526828/file/e23717-download.pdf
DOI : 10.7554/eLife.23717

Éditeur(s) : HAL CCSD PeerJ
Résumé : International audience
The study of vertebrate ontogenies has the potential to inform us of shared developmental patterns and processes among organisms. However, fossilised ontogenies of early vertebrates are extremely rare during the Palaeozoic Era. A growth series of the Late Devonian ''acanthodian'' Triazeugacanthus affinis, from the Miguasha Fossil-Fish Lagerstätte, is identified as one of the best known early vertebrate fossilised ontogenies given the exceptional preservation, the large size range, and the abundance of specimens. Morphological, morphometric, histological and chemical data are gathered on a growth series of Triazeugacanthus ranging from 4 to 52 mm in total length. The developmental trajectory of this Devonian ''acanthodian'' is characteristic of fishes showing a direct development with alternating steps and thresholds. Larvae show no squamation but a progressive appearance of cartilaginous neurocranial and vertebral elements, and appendicular elements, whereas juveniles progress in terms of ossification and squamation. The presence of cartilaginous and bony tissues, discriminated on histological and chemical signatures, shows a progressive mineralisation of neurocranial and vertebral elements. Comparison among different body proportions for larvae, juveniles and adults suggest allometric growth in juveniles. Because of the phylogenetic position of ''acanthodians'', Triazeugacanthus ontogeny informs us about deep time developmental conditions in gnathostomes.
ISSN: 2167-8359

Droits : http://creativecommons.org/licenses/by/
hal-01633978
http://hal.upmc.fr/hal-01633978
http://hal.upmc.fr/hal-01633978/document
http://hal.upmc.fr/hal-01633978/file/peerj-3969.pdf
DOI : 10.7717/peerj.3969

Éditeur(s) : HAL CCSD Public Library of Science
Résumé : International audience
The susceptibility of Anopheles mosquitoes to Plasmodium infections relies on complex interactions between the insect vector and the malaria parasite. A number of studies have shown that the mosquito innate immune responses play an important role in controlling the malaria infection and that the strength of parasite clearance is under genetic control, but little is known about the influence of environmental factors on the transmission success. We present here evidence that the composition of the vector gut microbiota is one of the major components that determine the outcome of mosquito infections. A. gambiae mosquitoes collected in natural breeding sites from Cameroon were experimentally challenged with a wild P. falciparum isolate, and their gut bacterial content was submitted for pyrosequencing analysis. The meta-taxogenomic approach revealed a broader richness of the midgut bacterial flora than previously described. Unexpectedly, the majority of bacterial species were found in only a small proportion of mosquitoes, and only 20 genera were shared by 80% of individuals. We show that observed differences in gut bacterial flora of adult mosquitoes is a result of breeding in distinct sites, suggesting that the native aquatic source where larvae were grown determines the composition of the midgut microbiota. Importantly, the abundance of Enterobacteriaceae in the mosquito midgut correlates significantly with the Plasmodium infection status. This striking relationship highlights the role of natural gut environment in parasite transmission. Deciphering microbe-pathogen interactions offers new perspectives to control disease transmission.
ISSN: 1553-7366

hal-01546176
https://hal.archives-ouvertes.fr/hal-01546176
DOI : 10.1371/journal.ppat.1002742

Éditeur(s) : HAL CCSD National Academy of Sciences
Résumé : International audience
All evolutionary biologists are familiar with evolutionary units that evolve by vertical descent in a tree-like fashion in single lineages. However, many other kinds of processes contribute to evolutionary diversity. In vertical descent, the genetic material of a particular evolutionary unit is propagated by replication inside its own lineage. In what we call introgressive descent, the genetic material of a particular evolutionary unit propagates into different host structures and is replicated within these host structures. Thus, introgressive descent generates a variety of evolutionary units and leaves recognizable patterns in resemblance networks. We characterize six kinds of evolutionary units, of which five involve mosaic lineages generated by introgressive descent. To facilitate detection of these units in resemblance networks, we introduce terminology based on two notions, P3s (subgraphs of three nodes: A, B, and C) and mosaic P3s, and suggest an apparatus for systematic detection of introgressive descent. Mosaic P3s correspond to a distinct type of evolutionary bond that is orthogonal to the bonds of kinship and genealogy usually examined by evolutionary biologists. We argue that recognition of these evolutionary bonds stimulates radical rethinking of key questions in evolutionary biology (e.g., the relations among evolutionary players in very early phases of evolutionary history, the origin and emergence of novelties, and the production of new lineages). This line of research will expand the study of biological complexity beyond the usual genealogical bonds, revealing additional sources of biodiversity. It provides an important step to a more realistic pluralist treatment of evolutionary complexity.
ISSN: 0027-8424

hal-01544803
https://hal.archives-ouvertes.fr/hal-01544803
DOI : 10.1073/pnas.1206541109

Éditeur(s) : HAL CCSD Nature Publishing Group
Résumé : International audience
ISSN: 1752-0894

hal-01668923
https://hal.archives-ouvertes.fr/hal-01668923
DOI : 10.1038/s41561-017-0028-x

Éditeur(s) : HAL CCSD Oxford University Press
Résumé : International audience
The BioMart Community Portal (www.biomart.org) is a community-driven effort to provide a unified interface to biomedical databases that are distributed worldwide. The portal provides access to numerous database projects supported by 30 scientific organizations. It includes over 800 different biological datasets spanning genomics, proteomics, model organisms, cancer data, ontology information and more. All resources available through the portal are independently administered and funded by their host organizations. The BioMart data federation technology provides a unified interface to all the available data. The latest version of the portal comes with many new databases that have been created by our ever-growing community. It also comes with better support and extensibility for data analysis and visualization tools. A new addition to our toolbox, the enrichment analysis tool is now accessible through graphical and web service interface. The BioMart community portal averages over one million requests per day. Building on this level of service and the wealth of information that has become available, the BioMart Community Portal has introduced a new, more scalable and cheaper alternative to the large data stores maintained by specialized organizations.
ISSN: 0305-1048

hal-01146849
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01146849
DOI : 10.1093/nar/gkv350
PUBMED : 25897122

Éditeur(s) : HAL CCSD Frontiers Media
Résumé : International audience
To date 142 species have been described in the Vibrionaceae family of bacteria, classified into seven genera; Aliivibrio, Echinimonas, Enterovibrio, Grimontia, Photobacterium, Salinivibrio and Vibrio. As vibrios are widespread in marine environments and show versatile metabolisms and ecologies, these bacteria are recognized as one of the most diverse and important marine heterotrophic bacterial groups for elucidating the correlation between genome evolution and ecological adaptation. However, on the basis of 16S rRNA gene phylogeny, we could not find any robust monophyletic lineages in any of the known genera. We needed further attempts to reconstruct their evolutionary history based on multilocus sequence analysis (MLSA) and/or genome wide taxonomy of all the recognized species groups. In our previous report in 2007, we conducted the first broad multilocus sequence analysis (MLSA) to infer the evolutionary history of vibrios using nine housekeeping genes (the 16S rRNA gene, gapA, gyrB, ftsZ, mreB, pyrH, recA, rpoA, and topA), and we proposed 14 distinct clades in 58 species of Vibrionaceae. Due to the difficulty of designing universal primers that can amplify the genes for MLSA in every Vibrionaceae species, some clades had yet to be defined. In this study, we present a better picture of an updated molecular phylogeny for 86 described vibrio species and 10 genome sequenced Vibrionaceae strains, using 8 housekeeping gene sequences. This new study places special emphasis on (1) eight newly identified clades (Damselae, Mediterranei, Pectenicida, Phosphoreum, Profundum, Porteresiae, Rosenbergii, and Rumoiensis); (2) clades amended since the 2007 proposal with recently described new species; (3) orphan clades of genomospecies F6 and F10; (4) phylogenetic positions defined in 3 genome-sequenced strains (N418, EX25, and EJY3); and (5) description of V. tritonius sp. nov., which is a member of the “Porteresiae” clade.
ISSN: 1664-302X

hal-01546980
http://hal.upmc.fr/hal-01546980
DOI : 10.3389/fmicb.2013.00414

Éditeur(s) : HAL CCSD Wiley
Résumé : International audience
The Convective and Orographically-driven Precipitation Study (COPS) carried out in summer 2007 over northeastern France and southwestern Germany provided a fairly comprehensive description of the low-troposphere water-vapour field, thanks in particular to the deployment of two airborne differential absorption lidar systems. These lidar observations were assimilated using the 3D-Var assimilation system of the Application of Research to Operations at MEsoscale (AROME) numerical weather prediction mesoscale model. The assimilation was carried out for the period 4 July-3 August by running a three-hour forward intermittent assimilation cycle. First, the impact of the lidar observations was assessed by comparing the analyses with a set of more than 200 independent soundings. The lidar observations were found to have a positive impact on the analyses by reducing the dry bias in the first 500 m above ground level and by diminishing the root-mean-square error by roughly 15% in the first km. Then the impact of the lidar observations was assessed by comparing the precipitation forecasts (obtained with and without the lidar observations for the period 15 July-2 August) with the gridded precipitation observations provided by the Vienna Enhanced Resolution Analysis. In general, the impact was found to be positive but not significant for the 24 h precipitation and positive and significant for the 6 h precipitation, with an improvement lasting up to 24 h. Some selected case studies show that the improvement was obtained through a better depiction of convection initiation or through a more accurate positioning of the precipitation systems
ISSN: 0035-9009

hal-00659497
https://hal.archives-ouvertes.fr/hal-00659497
DOI : 10.1002/qj.1864

Éditeur(s) : HAL CCSD Elsevier
Résumé : International audience
During their immature life stages, malaria mosquitoes are exposed to a wide array of microbes and contaminants from the aquatic habitats. Although prior studies have suggested that environmental exposure shapes the microbial community structure in the adult mosquito, most reports have focused on laboratory-based experiments and on a single mosquito epithelium, the gut. In this study, we investigated the influence of the breeding site on the development of the Anopheles coluzzii and Anopheles gambiae microbiota in natural conditions. We characterized bacterial communities from aquatic habitats, at surface microlayer and subsurface water levels, to freshly emerge adult mosquitoes using multiplexed 16S rRNA gene pyrosequencing and we separately analyzed the microbiota associated with the different epithelia of adult individual, midguts, ovaries and salivary glands. We found that the distribution of bacterial communities in the aquatic habitats differed according to the depth of water collections. Inter-individual variation of bacterial composition was large in larvae guts but adult mosquitoes from a same breeding site shared quite similar microbiota. Although some differences in bacterial abundances were highlighted between the different epithelia of freshly emerged An. coluzzii and An. gambiae, an intriguing feature from our study is the particular similarity of the overall bacterial communities. Our results call for further investigations on the bacterial population dynamics in the different tissues to determine the distinctive characteristics of each microbiota during the mosquito lifespan and to identify specific interactions between certain key phyla or species and the insect life history traits.
ISSN: 1567-1348

hal-01546167
https://hal.archives-ouvertes.fr/hal-01546167
DOI : 10.1016/j.meegid.2014.09.029

Éditeur(s) : HAL CCSD Wiley
Résumé : International audience
Three soil DNA extraction procedures (homemade protocols and commercial kit) varying in their practicability were applied to contrasting soils to evaluate their efficiency in recovering: (i) soil DNA and (ii) bacterial diversity estimated by 16S rDNA pyrosequencing. Significant differences in DNA yield were systematically observed between tested procedures. For certain soils, 10 times more DNA was recovered with one protocol than with the others. About 15 000 sequences of 16S rDNA were obtained for each sample which were clustered to draw rarefaction curves. These curves, as well as the PCA ordination of community composition based on OTU clustering, did not reveal any significant difference between procedures. Nevertheless, significant differences between procedures were highlighted by the taxonomic identification of sequences obtained at the phylum to genus levels. Depending on the soil, differences in the number of genera detected ranged from 1% to 26% between the most and least efficient procedures, mainly due to a poorer capacity to recover populations belonging to Actinobacteria, Firmicutes or Crenarchaeota. This study enabled us to rank the relative efficiencies of protocols for their recovery of soil molecular microbial biomass and bacterial diversity and to help choosing an appropriate soil DNA extraction procedure adapted to novel sequencing technologies.
ISSN: 1751-7915

hal-01546177
https://hal.archives-ouvertes.fr/hal-01546177
DOI : 10.1111/j.1751-7915.2011.00307.x

Éditeur(s) : HAL CCSD Public Library of Science
Résumé : International audience
Objective: The first aim of this study was to evaluate the antimicrobial resistance of Enterobacteriaceae in different water environments of Guadeloupe and especially those impacted by waste water treatment plants (WWTP) effluents. The second objective was to characterize the genetic basis for antibiotic resistance of extended-spectrum beta-lactamase (ESBL) and AmpC beta-lactamase producing Enterobacteriaceae isolates (ESBLE and AmpCE).Methods: We have collected 70 surface waters (river and sea samples) impacted or not by WWTP and 18 waste waters from 2 WWTPs in 2012 and 2013. We i) determined the total and resistant bacterial counts and ii) tested isolated Enterobacteriaceae for their antimicrobial susceptibility. We also studied the genetic basis for antibiotic resistance of ESBLE and AmpCE, and the genetic background of Escherichia coli.Results: In rivers, contamination with Escherichia coli and antibiotic resistant coliforms (ARC) increased from the source to the mouth. Highest levels of river contamination with E. coli (9.26 x 105 MPN/100mL) and ARC (2.26 x 108 CFU/mL) were observed in surface water sampled near the discharge. A total of 246 Enterobacteriaceae strains resistant to antibiotics were isolated, mostly from waste waters and from river water collected near the discharge. Among these strains, 33 were Extended Spectrum Beta Lactamase (ESBLE) and 8 E. coli were AmpC beta-lactamase producers. All the ESBLE were isolated from waste waters or from river water collected near the discharge. The blaCTX-M gene was present in 29 of the 33 ESBLE strains, with 24 belonging to group 1. Numerous strains (68.7%) showed more than one acquired antibiotic resistance mechanism. E. coli strains belonged to different phylogenetic groups; among the B2 group, most strains belonged to the ST131 clone.Conclusion: Our results demonstrated that many human activities can supply antibiotic-resistant bacteria in surface water. Nevertheless, WWTPs were the most important supplier of ESBLE in water environment of Guadeloupe.
ISSN: 1932-6203

Droits : http://creativecommons.org/licenses/by/
hal-01485327
http://hal.upmc.fr/hal-01485327
http://hal.upmc.fr/hal-01485327/document
http://hal.upmc.fr/hal-01485327/file/journal.pone.0173155.pdf
DOI : 10.1371/journal.pone.0173155.t002

Éditeur(s) : HAL CCSD Wiley
Résumé : International audience
In the mid-afternoon of 15 July 2007, during the Convective and Orographically induced Precipitation Study (COPS), in a very warm and dry environment, an isolated, short-lived, deep convective system developed over the southern Black Forest. Most of the high-resolution, convection-permitting models involved in COPS were unable to capture this event whereas the Meso-NH forecast was quite skilful. To assess the Meso-NH performance further, the model results were carefully checked against the various and numerous COPS observations. In full agreement with clear-air radar observations, model results underlined the triggering role of a low-level convergence line that developed in the lee of the Feldberg. The main departure from the observations was found to be in the low-level moisture fields, which appeared significantly moister in the model than in the observations and also slightly moister than in the other models. Sensitivity studies showed that this departure from the observations was strongly controlled by the initial surface moisture conditions. When the surface moisture was reduced by 20% or replaced by the value derived from a different analysis, the evolution of the planetary boundary layer was more accurately represented while the storm evolution was still correctly captured. These results demonstrate that the quality of the initial forecast cannot be ascribed to the moist bias of the model. It could therefore be hypothesized that the key parameters for a satisfactory forecast of this event lie more in the ability of the model to reproduce the dynamical forcing accurately than in the characteristics of the air-mass instability.
ISSN: 0035-9009

hal-00554400
https://hal.archives-ouvertes.fr/hal-00554400
DOI : 10.1002/qj.710

Éditeur(s) : HAL CCSD Météo et Climat
Résumé : International audience
The Convective and Orographically- induced Precipitation Study (COPS) is a coordinated international project, comprised of an observational field campaign and a research programme aiming to advance the quality of fore- casts of orographically-induced pre- cipitation by four-dimensional obser- vations and modelling of its life cycle. The COPS field campaign took place during June-July-August 2007 over eastern France and south-western Germany. Its main objective was to provide an unprecedented comprehen- sive set of in situ and remotely-sensed meteorological observations of the entire depth of the troposphere. After a short overview of the project, the paper focuses on the French contribution to the COPS field phase, describes the experimental setup and highlights some key observations.
L’étude des précipitations convectives induites par l’orographie (Cops selon l’acronyme anglais) est un projet inter- national coordonné qui comprend une campagne d’observations de terrain et un programme scientifique et qui vise à améliorer la qualité des prévisions des précipitations orographiques convectives à la fois par l’observation quadridimensionnelle et la modélisa- tion de leur cycle de vie. La campagne de terrain s’est déroulée en juin-juillet- août 2007 sur l’est de la France et le sud-ouest de l’Allemagne. Son objectif majeur était de fournir un jeu d’obser- vations météorologiques, in situ et à distance, aussi complet que possible et sur toute la profondeur de la colonne troposphérique.Après une brève revue d’ensemble du projet, l’article se concentre sur la contribution française à la campagne Cops, décrit le dispositif expérimental mis en œuvre et met en valeur quelques observations clés.
ISSN: 0026-1181

insu-01504075
https://hal-insu.archives-ouvertes.fr/insu-01504075
https://hal-insu.archives-ouvertes.fr/insu-01504075/document
https://hal-insu.archives-ouvertes.fr/insu-01504075/file/meteo_2009_64_32.pdf
DOI : 10.4267/2042/23632

Éditeur(s) : HAL CCSD American Society of Hematology
Résumé : International audience
Zika fever is an Aedes-borne disease caused by a flavivirus (Zika virus, ZIKV, genus Flavivirus). During the past years ZIKV spread in Polynesia, South-America and the Caribbean. Most ZIKV infections are asymptomatic or result in mild febrile disease with rash and conjunctivitis. Attention was recently drawn to non-vectored ZIKV transmission, including sexual, probable blood-borne and mother-to-fetus transmission, and to severe forms such as Guillain-Barré syndrome, acute neurological infections and fetal abnormalities (including microcephaly). Many aspects of Zika fever natural history remain unknown, e.g. the proportion of asymptomatic cases and the duration of viremia. Estimating the prevalence of Zika infections is difficult because a large proportion of infected individuals do not seek medical attention and seroprevalence studies are hampered by antigenic cross-reactivity with other flaviviruses, e.g. dengue virus. Here, we present a study of ZIKV infection in blooddonors from Martinique island (French West Indies, Caribbean region), with novel epidemiological, biological and clinical information that refine the picture of Zika fever in adults.
ISSN: 0006-4971

inserm-01415646
http://www.hal.inserm.fr/inserm-01415646
http://www.hal.inserm.fr/inserm-01415646/document
http://www.hal.inserm.fr/inserm-01415646/file/2016%2C%20Gallian%20et%20al%20-%20Zika%20virus%20in%20asymptomatic%20blood%20donors%2C%20Martinique%20%281%29.pdf
DOI : 10.1182/blood-2016-09-737981

Éditeur(s) : HAL CCSD Microbiology Society
Résumé : International audience
An actinobacterial strain, designated ViU22(T), was isolated from a natural uranium-rich soil and was studied using a polyphasic approach. Cells formed orange-pigmented colonies, were rod-shaped, Gram-positive (non-staining method), non-motile and non-spore-forming. This organism grew in 0-4.5 % (w/v) NaCl and at 15-37 °C, with optimal growth occurring in 0.5 % (w/v) NaCl and at 30 °C. Comparative 16S rRNA gene sequence analysis revealed that the strain ViU22(T) belonged to the genus Microbacterium. It exhibited highest 16S rRNA gene sequence similarity with the type strains of Microbacterium testaceum (98.14 %) and Microbacterium binotii (98.02 %). The DNA-DNA relatedness of strains ViU22(T) with the most closely related type strains Microbacterium testaceum and Microbacterium binotii DSM 19164(T) was 20.10 % (± 0.70) and 28.05 % (± 0.35), respectively. Strain ViU22(T) possessed a type B2β peptidoglycan with partial substitution of glutamic acid by 3-hydroxy glutamic acid. The major menaquinones were MK-11 and MK-12. Major polar lipids detected in the strain ViU22(T) were diphosphatidylglycerol, phosphatidylglycerol, an unknown phospholipid and unknown glycolipids. The predominant fatty acids were anteiso-C15 : 0, anteiso-C17 : 0 and iso-C16 : 0, a pattern reported for other Microbacterium species. The major cell-wall sugars were galactose, xylose and mannose and the DNA G+C content was 71 mol%. Together, the DNA-DNA hybridization results and the differentiating phenotypic characteristics, showed that strain ViU22(T) should be classified as the type strain of a novel species within the genus Microbacterium, for which the name Microbacterium lemovicicum sp. nov. is proposed. The type strain is ViU22(T) ( = ATCC BAA-2396(T) = CCUG 62198(T) = DSM 25044(T)).
ISSN: 1466-5026

hal-01561095
https://hal-amu.archives-ouvertes.fr/hal-01561095
PUBMED : 23264499
DOI : 10.1099/ijs.0.048454-0

Éditeur(s) : HAL CCSD Météo et Climat
Résumé : International audience
Le premier volet du projet Cyprim vise à mieux identifier les précurseurs des cyclogenèses et des précipitations intenses en région méditerranéenne. Cet article en présente les principaux résultats. Il est question des ingrédients météorologiques à l'origine de ces systèmes, de la grande à la mésoéchelle, des causes des fortes intensités, localisations et parfois stationnarité des récipitations associées. Le coeur de l'article présente des méthodes d'identification des anomalies de tourbillon potentiel liées à l'occurrence d'événements précipitants intenses et dresse une climatologie de ces anomalies. Les perspectives d'exploitation de cette information pour améliorer la qualité des prévisions sont évoquées. ENGLISH VERSION: The first part of the CYPRIM project (Cyclogenesis and intense precipitations in the Mediterranean region) aims at a better identification of the precursor structures of cyclogenesis and heavy precipitation in the Mediterranean region. This article presents the main results. It mentions the meteorological ingredients from which these systems originate from the large to themesoscale, the reasons for large intensities, the localization and sometimes stationarity of the associated precipitations. The heart of the article shows methods for identifiying potential vorticity anomalies involved in the occurrence of heavy precipitation events and sets up a climatology of these anomalies.The perspectives of the usefulness of this information for improving forecast quality are discussed.
ISSN: 0026-1181

insu-00448250
https://hal-insu.archives-ouvertes.fr/insu-00448250
DOI : 10.4267/2042/28828

Éditeur(s) : HAL CCSD
Résumé : International audience
Background Orodental diseases include several clinically and genetically heterogeneous disorders that can present in isolation or as part of a genetic syndrome. Due to the vast number of genes implicated in these disorders, establishing a molecular diagnosis can be challenging. We aimed to develop a targeted next-generation sequencing (NGS) assay to diagnose mutations and potentially identify novel genes mutated in this group of disorders. Methods We designed an NGS gene panel that targets 585 known and candidate genes in orodental disease. We screened a cohort of 101 unrelated patients without a molecular diagnosis referred to the Reference Centre for Oro-Dental Manifestations of Rare Diseases, Strasbourg, France, for a variety of orodental disorders including isolated and syndromic amelogenesis imperfecta (AI), isolated and syndromic selective tooth agenesis (STHAG), isolated and syndromic dentinogenesis imperfecta, isolated dentin dysplasia, otodental dysplasia and primary failure of tooth eruption. Results We discovered 21 novel pathogenic variants and identified the causative mutation in 39 unrelated patients in known genes (overall diagnostic rate: 39%). Among the largest subcohorts of patients with isolated AI (50 unrelated patients) and isolated STHAG (21 unrelated patients), we had a definitive diagnosis in 14 (27%) and 15 cases (71%), respectively. Surprisingly, COL17A1 mutations accounted for the majority of autosomal-dominant AI cases. Conclusions We have developed a novel targeted NGS assay for the efficient molecular diagnosis of a wide variety of orodental diseases. Furthermore, our panel will contribute to better understanding the contribution of these genes to orodental disease. Trial registration numbers NCT01746121 and NCT02397824
Journal of Medical Genetics

hal-01272929
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01272929
DOI : 10.1136/jmedgenet-2015-103302
PUBMED : 26502894

Éditeur(s) : HAL CCSD Lippincott, Williams & Wilkins
Résumé : International audience
The aim of this study was to investigate the role of socioeconomic and healthcare use characteristics in the participation in breast, cervical and colorectal cancer screening in the French West Indies. We used data from a national health survey conducted in 2014 in Martinique (n=2026) and Guadeloupe (n=2028). Logistic regressions adjusted for various sociodemographic and morbidity variables were performed. The following determinants were investigated: having hot water at home, having received income support for low-income individuals during the last year, educational level, occupational class, complementary health insurance, healthcare renouncement and visit to the general practitioner (GP) during the last year. Multiple imputations were performed to account for missing values. We observed the following cancer screening rates: 78.1% for cervical cancer, 81.5% for breast cancer and 59.5% (women) and 50.8% (men) for colorectal cancer. Higher cervical cancer screening participation was reported among women with qualified occupation and having visited the GP during the last year and lower participation among women who never worked. Higher screening participation was reported among participants having hot water at home and having visited the GP during the last year for breast and colorectal (men and women) cancer. Unexpectedly, a lower colorectal cancer screening participation was found among women with qualified occupation. We observed social inequalities in participation in cancer screening in the French West Indies, which stresses the need to continue efforts to increase screening rates in this population.
ISSN: 0959-8278

hal-01525894
http://hal.upmc.fr/hal-01525894
http://hal.upmc.fr/hal-01525894/document
http://hal.upmc.fr/hal-01525894/file/Menvielle_2016_Socioeconomic_and.pdf
DOI : 10.1097/CEJ.0000000000000329

Éditeur(s) : HAL CCSD Wiley/Blackwell
Résumé : International audience
Photosynthetic eukaryotes have a critical role as the main producers in most ecosystems of the biosphere. The ongoing environmental metabarcoding revolution opens the perspective for holistic ecosystems biological studies of these organisms, in particular the unicellular microalgae that often lack distinctive morphological characters and have complex life cycles. To interpret environmental sequences, metabarcoding necessarily relies on taxonomically curated databases containing reference sequences of the targeted gene (or barcode) from identified organisms. To date, no such reference framework exists for photosynthetic eukaryotes. In this study, we built the PhytoREF database that contains 6490 plastidial 16S rDNA reference sequences that originate from a large diversity of eukaryotes representing all known major photosynthetic lineages. We compiled 3333 amplicon sequences available from public databases and 879 sequences extracted from plastidial genomes, and generated 411 novel sequences from cultured marine microalgal strains belonging to different eukaryotic lineages. A total of 1867 environmental Sanger 16S rDNA sequences were also included in the database. Stringent quality filtering and a phylogeny-based taxonomic classification were applied for each 16S rDNA sequence. The database mainly focuses on marine microalgae, but sequences from land plants (representing half of the PhytoREF sequences) and freshwater taxa were also included to broaden the applicability of PhytoREF to different aquatic and terrestrial habitats. PhytoREF, accessible via a web interface (http://phytoref.fr), is a new resource in molecular ecology to foster the discovery, assessment and monitoring of the diversity of photosynthetic eukaryotes using high-throughput sequencing.
ISSN: 1755-098X

hal-01149047
http://hal.upmc.fr/hal-01149047
http://hal.upmc.fr/hal-01149047/document
http://hal.upmc.fr/hal-01149047/file/Decelle_2015_PhytoREF.pdf
DOI : 10.1111/1755-0998.12401

Éditeur(s) : HAL CCSD
Résumé : International audience
F.T. Kützing introduced Cocconeis molesta with only an uninformative description and a poor illustration: C. molesta has small, oblong valves and is an epiphyte. Another species, Cocconeis diaphana, described by William Smith, is said to have larger valves than C. molesta, with frustules that are relatively oblong. Smith described two forms: one with a distinct fascia on its raphe valve (var. β), the other without this feature. A third species, Cocconeis dirupta was described by Gregory, who expressed doubts that it differed from C. diaphana. Finally, Cocconeis molesta var. crucifera Grunow was first introduced in Van Heurck's Atlas but was subsequently treated by Van Heurck as a synonym of C. molesta. No previous account has examined the type material of these species. In this paper, we undertake that task and examine type slides and raw material in order to discriminate these different taxa. We conclude by recognizing three species: Cocconeis molesta Kütz., C. diaphana W.Sm. and C. dirupta W.Greg. Cocconeis diaphana var. β is considered to be a synonym of C. dirupta and C. molesta var. crucifera is considered to be a synonym of C. molesta. Lectotypes are designated for C. diaphana and C. dirupta.
ISSN: 2118-9773

Droits : http://creativecommons.org/licenses/by/
hal-01340453
https://hal-univ-perp.archives-ouvertes.fr/hal-01340453
https://hal-univ-perp.archives-ouvertes.fr/hal-01340453/document
https://hal-univ-perp.archives-ouvertes.fr/hal-01340453/file/329-1709-1-PB.pdf
DOI : 10.5852/ejt.2016.204