Éditeur(s) : HAL CCSD Frontiers Media
Résumé : International audience
The yeast Candida glabrata has become the second cause of systemic candidemia in humans. However, relatively few genome-wide studies have been conducted in this organism and our knowledge of its transcriptional regulatory network is quite limited. In the present work, we combined genome-wide chromatin immunoprecipitation (ChIP-seq), transcriptome analyses, and DNA binding motif predictions to describe the regulatory interactions of the seven Yap (Yeast AP1) transcription factors of C. glabrata. We described a transcriptional network containing 255 regulatory interactions and 309 potential target genes. We predicted with high confidence the preferred DNA binding sites for 5 of the 7 CgYaps and showed a strong conservation of the Yap DNA binding properties between S. cerevisiae and C. glabrata. We provided reliable functional annotation for 3 of the 7 Yaps and identified for Yap1 and Yap5 a core regulon which is conserved in S. cerevisiae, C. glabrata, and C. albicans. We uncovered new roles for CgYap7 in the regulation of iron-sulfur cluster biogenesis, for CgYap1 in the regulation of heme biosynthesis and for CgYap5 in the repression of GRX4 in response to iron starvation. These transcription factors define an interconnected transcriptional network at the crossroads between redox homeostasis, oxygen consumption, and iron metabolism.
ISSN: 1664-302X

Droits : http://creativecommons.org/licenses/by/
hal-01323791
http://hal.upmc.fr/hal-01323791
http://hal.upmc.fr/hal-01323791/document
http://hal.upmc.fr/hal-01323791/file/fmicb-07-00645.pdf
DOI : 10.3389/fmicb.2016.00645

Éditeur(s) : HAL CCSD BioMed Central
Résumé : International audience
Background : In a recent study, we have demonstrated that amelotin (AMTN) gene structure and its expression during amelogenesis have changed during tetrapod evolution. Indeed, this gene is expressed throughout enamel matrix deposition and maturation in non-mammalian tetrapods, while in mammals its expression is restricted to the transition and maturation stages of amelogenesis. Previous studies of amelogenin (AMEL) gene expression in a lizard and a salamander have shown similar expression pattern to that in mammals, but to our knowledge there are no data regarding ameloblastin (AMBN) and enamelin (ENAM) expression in non-mammalian tetrapods. The present study aims to look at, and compare, the structure and expression of four enamel matrix protein genes, AMEL, AMBN, ENAM and AMTN during amelogenesis in the lizard Anolis carolinensis.Results : We provide the full-length cDNA sequence of A. carolinensis AMEL and AMBN, and show for the first time the expression of ENAM and AMBN in a non-mammalian species. During amelogenesis in A. carolinensis, AMEL, AMBN and ENAM expression in ameloblasts is similar to that described in mammals. It is noteworthy that AMEL and AMBN expression is also found in odontoblasts. Conclusions : Our findings indicate that AMTN is the only enamel matrix protein gene that is differentially expressed in ameloblasts between mammals and sauropsids. Changes in AMTN structure and expression could be the key to explain the structural differences between mammalian and reptilian enamel, i.e. prismatic versus non-prismatic.
ISSN: 2041-9139

Droits : http://creativecommons.org/licenses/by/
hal-01206550
http://hal.upmc.fr/hal-01206550
http://hal.upmc.fr/hal-01206550/document
http://hal.upmc.fr/hal-01206550/file/Gasse_2015_Comparative.pdf
DOI : 10.1186/s13227-015-0024-4

Éditeur(s) : HAL CCSD
Résumé : International audience
L’article que nous proposons est articulé autour de la notion de classe : doit-on considérer la classe comme un ensemble statique composé d’individus possédant la même structure et le même comportement, ou opter pour une approche plus dynamique dans laquelle les contours de la classe sont définis à travers la prise en compte en situation des individus proches d’un prototype représentatif d’une catégorie donnée.Le choix d’une approche dynamique conduit les auteurs à revisiter deux théories « classiques », la théorie sémio-contextuelle et la théorie acteur-réseaux, en proposant une théorie des prototypes réseaux qui a pour objectif de faciliter l’appréhension des groupes d’acteurs dans un contexte de généralisation des communications numériques pour in fine une meilleure compréhension des situations.
Les écosystèmes numériques et la démocratisation informationnelle : Intelligence collective, Développement durable, Interculturalité, Transfert de connaissances
Schoelcher, France

hal-01258148
https://hal.univ-antilles.fr/hal-01258148
https://hal.univ-antilles.fr/hal-01258148/document
https://hal.univ-antilles.fr/hal-01258148/file/Agostinelli%20Riccio%20Metge.pdf

Éditeur(s) : HAL CCSD
Résumé : Les populations envahissantes sont généralement confrontées à un monde hétérogène où les conditions abiotiques, la distribution et la disponibilité en ressource et les densités d’espèces natives varient à la fois dans le temps et dans l’espace. Une telle hétérogénéité environmentale peut jouer un rôle décisif dans le succès d’établissement et sur la vitesse d’expansion d’une invasion. Des capacités de dispersion dans le temps et dans l’espace sont attendues pour permettre aux populations envahissantes de faire face à ces contraintes. Les Hyménoptères spécialistes des graines du genre Megastigmus (Torymidae) sont des modèles invasifs intéressants parce-qu’ils exploitent des populations d’arbres qui sont réparties en patchs discontinus dans le paysage et qui montrent des variations inter-annuelles synchronisées et de forte amplitude dans la production de graines (masting). Nous nous sommes intéressés à l’invasion récente des forêts de cèdre de l’Atlas du sud-est de la France par M. schimitscheki, qui montre de fortes propensions à : (i) la dispersion passive par le vent (dispersion spatiale), et (ii) la diapause prolongée, une forme de dormance larvaire pouvant durer de 3 à 5 années consécutives (dispersion temporelle). Dans un premier temps, nous montrons que, malgré une distribution très fragmentée de son hôte obligatoire à l’échelle du paysage, M. schimitscheki a pu envahir la quasi-totalité des cédraies de la région PACA par des évènements de dispersion à longue distance depuis sa zone d’introduction, à la faveur d’un vent régional dominant (le Mistral). Dans un second temps, nous montrons que, à l’échelle d’une population, la diapause prolongée peut constituer un refuge temporel démographique et génétique pour des cohortes soumises aux variations extrêmes de disponibilité en ressources, qui résultent du masting de leur hôte obligatoire.
Colloque de lancement du GdR ‘Invasions Biologiques’
Rennes, France

hal-01601706
https://hal.archives-ouvertes.fr/hal-01601706
PRODINRA : 404855

Éditeur(s) : HAL CCSD Public Library of Science
Résumé : International audience
Patterns of connectivity and self-recruitment are recognized as key factors shaping the dynamics of marine populations. Connectivity is also essential for maintaining and restoring natural ecological processes with genetic diversity contributing to the adaptation and persistence of any species in the face of global disturbances. Estimates of connectivity are crucial to inform the design of both marine protected areas (MPAs) and MPA networks. Among several approaches, genetic structure is frequently used as a proxy for patterns of connectivity. Using 8 microsatellite loci, we investigated genetic structure of the two-banded sea bream Diplodus vulgaris, a coastal fish that is both commercially and ecologically important. Adults were sampled in 7 locations (stretches of coastline approximately 8 km long) and juveniles in 14 sites (~100 to 200 m of coastline) along 200 km of the Apulian Adriatic coast (SW Adri-atic Sea), within and outside an MPA (Torre Guaceto MPA, Italy). Our study found similar genetic diversity indices for both the MPA and the surrounding fished areas. An overall lack of genetic structure among samples suggests high gene flow (i.e. connectivity) across a scale of at least 200 km. However, some local genetic divergences found in two locations demonstrate some heterogeneity in processes renewing the population along the Apulian Adriatic coast. Furthermore, two sites appeared genetically divergent, reinforcing our observations within the genetic makeup of adults and confirming heterogeneity in early stage genetics that can come from either different supply populations or from chaotic genetic patchiness occurring under temporal variation in recruitment and in the reproductive success. While the specific role of the MPA is not entirely known in this case, these results confirm the presence of regional processes and the key role of connectivity in maintaining the local population supply.
ISSN: 1932-6203

hal-01442055
https://hal-univ-perp.archives-ouvertes.fr/hal-01442055
https://hal-univ-perp.archives-ouvertes.fr/hal-01442055/document
https://hal-univ-perp.archives-ouvertes.fr/hal-01442055/file/journal.pone.0167441.pdf
DOI : 10.1371/journal.pone.0167441.s009

Éditeur(s) : HAL CCSD
Résumé : International audience
Si la production d'énergie renouvelable solaire, éolienne et géothermique est bien développée en Guadeloupe, il n'en est pas de même de l'éducation au développement durable dont la mise en place est très récente. Issu de travaux portant sur les mécanismes de contextualisation des savoirs scientifiques, l'enquête exposée ici vise à caractériser les conceptions d'élèves de CM2 sur la géothermie en fonction du contexte géologique dans lequel ils vivent. L'impact de l'opinion de l'enseignant sur celles de ses élèves est également mis en question par le fait que les élèves ayant un enseignant impliqué de manière critique ou positive ont une opinion plus positive de l'usine géothermique voisine. La détermination de l'opinion des élèves sur cet exemple semble donc soit être plus influencée par le contexte familial que par le scolaire, soit ne se construire plus nettement, par accord ou par opposition, face à l'implication de l'enseignant. Abstract If the production of solar, wind and geothermal energy is important in Guadeloupe, it is not the same for sustainable development education. Deriving from work on the mechanisms of contextualization of scientific knowledge, the investigation presented here aims to characterize the concepts of 10 years pupils about geothermal energy as a function of geological setting in which they live. The impact of the views of the teachers on those students is also questioned. Pupils with one teacher involved in citizen group critical or positive about geothermal plant, have a more positive view of the nearby geothermal plant. The determination of students' opinions on this example seems to be more influenced by family background than by the school or not to build more significantly, by agreement or opposition, given the involvement of the teacher.
19th Caribbean Geological conference
Gosier, Guadeloupe

hal-01539490
https://hal.univ-antilles.fr/hal-01539490
https://hal.univ-antilles.fr/hal-01539490/document
https://hal.univ-antilles.fr/hal-01539490/file/FORMACOR.pdf

Éditeur(s) : HAL CCSD Springer Verlag
Résumé : International audience
Selected high-resolution seismic-reflection profiles and multibeam bathymetry acquired along the convergent Ecuador margin during the ATACAMES cruise on onboard the R/V L’Atalante (Jan.15–Feb.18, 2012) allow a preliminary evaluation of the neotectonic development and stratigraphic evolution of the margin based on the sismo-stratigraphic analysis of Quaternary sediment preserved on the margin shelf and upper slope. We present three major preliminary results. (1) The evolution of the Esmeraldas, Guayaquil and Santa Elena canyons. The head of the Esmeraldas canyon is the location of a continuous significant sediment transport. The Guayaquil canyon shows several episodes of deposition and incision. Aggrading sedimentation pattern in the canyon records several changes in relative sea-level. The subsidence of the Gulf of Guayaquil probably contributes to the good preservation of the canyon filling stages. The Santa Elena canyon is controlled by a SW–NE trending normal fault. (2) Variations of sediment accumulation and relative vertical motions are shown along-strike the shelf edge. Offshore the uplifted Manta peninsula, a pronounced subsidence of the shelf edge is documented by sedimentary clinoforms that have deposited in a morphological reentrant, and have migrated upslope testifying of a local subsidence meanwhile the adjacent La Plata Island area underwent uplift. In the Esmeraldas canyon area, a local uplift of the shelf is documented. (3) Two neotectonic fault systems with a possible transcurrent component are imaged across the shelf edge and upper margin slope offshore Jama, and Cape Galera. This possible transcurrent motion could be related to the reactivation of ancient faults of the upper plate by the subduction. These preliminary results indicate that the ATACAMES data set has a strong potential to evaluate the spatial and temporal contribution of tectonic and climate changes on the structural development and stratigraphic evolution of the Ecuador continental margin.
ISSN: 0025-3235

insu-01131151
https://hal-insu.archives-ouvertes.fr/insu-01131151
DOI : 10.1007/s11001-014-9231-y

Éditeur(s) : HAL CCSD Public Library of Science
Résumé : International audience
The development of Plasmodium falciparum within the Anopheles gambiae mosquito relies on complex vector-parasite interactions, however the resident midgut microbiota also plays an important role in mediating parasite infection. In natural conditions, the mosquito microbial flora is diverse, composed of commensal and symbiotic bacteria. We report here the isolation of culturable midgut bacteria from mosquitoes collected in the field in Cameroon and their identification based on the 16S rRNA gene sequencing. We next measured the effect of selected natural bacterial isolates on Plasmodium falciparum infection prevalence and intensity over multiple infectious feedings and found that the bacteria significantly reduced the prevalence and intensity of infection. These results contrast with our previous study where the abundance of Enterobacteriaceae positively correlated with P. falciparum infection (Boissiere et al. 2012). The oral infection of bacteria probably led to the disruption of the gut homeostasis and activated immune responses, and this pinpoints the importance of studying microbe-parasite interactions in natural conditions. Our results indicate that the effect of bacterial exposure on P. falciparum infection varies with factors from the parasite and the human host and calls for deeper dissection of these parameters for accurate interpretation of bacterial exposure results in laboratory settings.
ISSN: 1932-6203

hal-01546172
https://hal.archives-ouvertes.fr/hal-01546172
DOI : 10.1371/journal.pone.0081663

Éditeur(s) : HAL CCSD Elsevier Masson
Résumé : no abstract
ISSN: 0033-2984

hal-01360231
https://hal.archives-ouvertes.fr/hal-01360231

Éditeur(s) : HAL CCSD Nature Publishing Group
Résumé : International audience
Polarization dependence second harmonic generation (P-SHG) microscopy is gaining increase popularity for in situ quantification of fibrillar protein architectures. In this report, we combine P-SHG microscopy, new linear least square (LLS) fitting and modeling to determine and convert the complex second-order non-linear optical anisotropy parameter ρ of several collagen rich tissues into a simple geometric organization of collagen fibrils. Modeling integrates a priori knowledge of polyhelical organization of collagen molecule polymers forming fibrils and bundles of fibrils as well as Poisson photonic shot noise of the detection system. The results, which accurately predict the known sub-microscopic hierarchical organization of collagen fibrils in several tissues, suggest that they can be subdivided into three classes according to their microscopic and macroscopic hierarchical organization of collagen fibrils. They also show, for the first time to our knowledge, intrahepatic spatial discrimination between genuine fibrotic and non-fibrotic vessels. CCl 4-treated livers are characterized by an increase in the percentage of fibrotic vessels and their remodeling involves peri-portal compaction and alignment of collagen fibrils that should contribute to portal hypertension. This integrated P-SHG image analysis method is a powerful tool that should open new avenue for the determination of pathophysiological and chemo-mechanical cues impacting collagen fibrils organization.
ISSN: 2045-2322

hal-01592192
https://hal.archives-ouvertes.fr/hal-01592192
https://hal.archives-ouvertes.fr/hal-01592192/document
https://hal.archives-ouvertes.fr/hal-01592192/file/s41598-017-12398-0.pdf
DOI : 10.1038/s41598-017-12398-0

Éditeur(s) : HAL CCSD Springer Verlag
Résumé : International audience
Tuftelin (TUFT1) is an acidic, phosphorylated glycoprotein, initially discovered in developing enamel matrix. TUFT1 is expressed in many mineralized and non-mineralized tissues. We performed an evolutionary analysis of 82 mammalian TUFT1 sequences to identify residues and motifs that were conserved during 220 million years (Ma) of evolution. We showed that 168 residues (out of the 390 residues composing the human TUFT1 sequence) are under purifying selection. Our analyses identified several, new, putatively functional domains and confirmed previously described functional domains, such as the TIP39 interaction domain, which correlates with nuclear localization of the TUFT1 protein, that was demonstrated in several tissues. We also identified several sites under positive selection, which could indicate evolutionary changes possibly related to the functional diversification of TUFT1 during evolution in some lineages. We discovered that TUFT1 and MYZAP (myocardial zonula adherens protein) share a common ancestor that was duplicated circa 500 million years ago. Taken together, these findings expand our knowledge of TUFT1 evolution and provide new information that will be useful for further investigation of TUFT1 functions.
ISSN: 0022-2844

hal-01516886
http://hal.upmc.fr/hal-01516886
http://hal.upmc.fr/hal-01516886/document
http://hal.upmc.fr/hal-01516886/file/Delgado_2017_Evolutionary.pdf
DOI : 10.1007/s00239-017-9789-5

Éditeur(s) : HAL CCSD
Résumé : International audience
This paper investigates the narrative challenges and opportunities that contemporary virology offers to popular science and to fiction. The study of viruses reveals extremely complex relations, playing out over different physical and temporal scales. Viruses constitute a heterogeneous population whose interactions with living organisms occur on multiple levels, and whose numbers are vastly superior to human and even bacterial populations on earth. The resulting challenges for narration can be grouped into three main formal questions. The first is the problem of scale, since the numbers and sizes of virus and host populations are vastly different, as are the temporalities over which they transform and survive. The second is the complexity of actants, since viruses are involved in relations where destruction and mutual benefit can overlap, and genetic transformations are played out over many generations. The third is the choice of images through which to convey their behaviours: many existing metaphors in microbiology, such as “chimeras”, “parasites” or “kill-the-winner dynamics”, carry the narrative potential of a mythological and/or theatrical imagination.These questions will first be examined as challenges encountered in the narration of biology for vulgarization purposes, and effects on narrative forms will be outlined: shifts in focalization in order to create multiscalar perspectives; unstable actantial models as expressions of complex relations; and the use or resistance to narrative structures implied by several key metaphors in virological discourse. These formal characteristics will then be presented through two case studies drawn from contemporary fiction. In his “scientific fable” Conflits Intérieurs (2015), microbiologist Eric Bapteste creates a multiscalar narrative by using humans and viruses as both protagonists and narrators in a battle of ideas. In the graphic novel aâma (2011-2014), Frederik Peeters explores the ambiguous potential, both symbiotic and threatening, of a meta-organism uniting humans with microscopic agents. Both these novels play with scale, metaphor and actants so as to question the fundaments of human identity. They posit the act of narration as a defining human attribute, and consequently use the narrative voice as an arena in which we observe the weakening of the notion of the subject by microbiology.
“Narrative, Cognition & Science” Symposium
Erlangen, Germany

hal-01434744
https://hal.archives-ouvertes.fr/hal-01434744

Éditeur(s) : HAL CCSD Oxford University Press (OUP)
Résumé : International audience
ISSN: 0956-540X

hal-01187132
https://hal.archives-ouvertes.fr/hal-01187132

Éditeur(s) : HAL CCSD Elsevier
Résumé : International audience
The Souttoufide belt is situated between the High-Atlas in the north, the Mauritanides in the south and the West African Craton as well as the Tindouf basin in the east. Thus, this belt is a part of the West African fold belt system which surrounds the West African Craton. Outcrops occur only in three areas, while the rest of the Souttoufide belt is covered by Meso- to Cenozoic sediments. These areas are, from the south to the north, the Adrar Souttouf Massif, the Smara Zemmour area, and the western part of the Anti-Atlas. Because of the continuing processing and numerous publications, the Anti-Atlas cannot be dealt with in detail. Fundamental geological work in both of the other areas was mainly done during the second third of the 20th century, followed by several decades of inactivity. Numerous studies were done in the Adrar Souttouf massif during the last decade, while the Smara-Zemmour area still remains poorly investigated. Most of them were focused on geochronological analyses and geochemistry. Accordingly, the obtained data led to a new interpretation. The Adrar Souttouf is interpreted as a Pan-African belt exhibiting a Neoproterozoic island arc reworked by the Variscan collision between the North American Craton (NAC) and the West African Craton (WAC). The Smara-Zemmour area is considered as the external part of this Variscan belt thrusted onto the Palaeozoic Tindouf basin. The western Anti-Atlas as considered as a Pan-African active margin reworked during the Variscan orogen. Together, these three areas, lead to the hypothesis of a Late Pan-African belt capped by the Early and Middle Palaeozoic covers and then affected by the Middle Carboniferous tectonic event (330 Ma) related to the Pangaean assembly. Correlations with adjacent belts (Mauritanides and Anti-Atlas) are considered.
ISSN: 0899-5362

hal-01382815
https://hal.archives-ouvertes.fr/hal-01382815
DOI : 10.1016/j.jafrearsci.2015.04.016

Éditeur(s) : HAL CCSD Elsevier
Résumé : International audience
The Demerara plateau, located offshore French Guiana and Suriname, is part of a passive transform continental margin particularly prone to develop slope instabilities, probably in relation to the presence of a free distal border along its steep continental slope. Slope failure occurred at different periods (Cretaceous to Neogene) and shows an overall retrogressive evolution through time. Upslope these failure headscarp, an enigmatic regional Mio-Pliocene unconformity has been discovered through the interpretation of new academic and industrial datasets. The aim of this work is to describe and understand the origin of this surface. Our analysis shows that this unconformity is made of a series of valleys that cross-cut sedimentary strata. Each one of these valleys has a short lateral extent and is closed along two perpendicular directions, which suggests that it could correspond to a highly meandering system, or to some sub-circular depressions. The infill of these features is equivalent to the regional stratigraphic strata found outside the structures, but in a subdued position. This seems to imply that the structures have originated by a local loss of sediments at their base or by sliding processes. Furthermore, these depressions intersect each other through time, while migrating progressively downslope.We discuss a series of hypotheses that try to explain the onset and evolution of these depressions forming the Mio-Pliocene unconformity (Canyons? Slope failures? Contourite moats? Hydrate pockmarks?). Having established that these structures are depressions formed by collapse, and have many similarities with structures recently described in the literature as pockmarks associated with gas hydrate dissolution, we favor this hypothesis.We propose that these hydrate pockmarks form with a mass failure that was triggered by fluid-overpressure development at the base of the hydrate stability zone.
ISSN: 0025-3227

hal-01365920
https://hal.archives-ouvertes.fr/hal-01365920
DOI : 10.1016/j.margeo.2015.04.001

Éditeur(s) : HAL CCSD American Geophysical Union (AGU)
Résumé : International audience
Located east of Guadeloupe, the island of La Désirade exhibits the oldest rocks of the Lesser Antilles arc and the eastern Caribbean plate. An old magmatic basement is composed of (1) late Jurassic ophiolitic complex with meta-basaltic pillow lavas and interbedded radiolarites, (2) acid igneous complex comprising meta-quartz-diorite and meta-rhyolitic lavas flows, and (3) meta-diabasic/microdioritic dyke swarm complex. We present and discuss the discovery of synmetamorphic thrust tectonics in this island. Based on detailed structural analysis we evidenced two main compressive events. The first event (D1) is characterized by pervasive folding associated with thrust development. In the northeastern part of the island, a major thrust fault, the Grand Abaque Thrust, has been discovered which displaces for several kilometers the acid igneous complex onto the ophiolitic unit. The second deformation event (D2) is featured by a main pervasive cleavage S2 observed at the regional scale associated with upright folding (F2) and by the development of two sets of conjugated steeply dipping strike-slip shear zones, dextral 130°N and sinistral 20°N striking, respectively. Microstructural observations indicate that Greenschist facies metamorphism is clearly contemporaneous with the development of D1 and D2 superimposed tectonic structures. Ar/Ar geochronology was performed on two bulk of adularia minerals sampled in the northeast volcanic complex within a deformed zone related to a D2 event. These analyses yield well-defined and concordant plateau ages at 106.2 ± 1.7 Ma and 107.2 ± 1.8 Ma. Thus, shortening and thickening tectonics occurred during Lower Cretaceous (Albian). In the available framework of Caribbean geodynamics, the synmetamorphic thrust tectonics we discovered in the French Lesser Antilles is related to the collision between an Aptian-Albian oceanic plateau and the Andean-Cordilleran east-dipping subduction zone. Our results support subduction polarity reversal during Lower Cretaceous.
ISSN: 0278-7407

hal-00620555
https://hal.archives-ouvertes.fr/hal-00620555
DOI : 10.1029/2011TC002875

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 Oxford University Press (OUP): Policy C - Option B
Résumé : International audience
We report the characterization of a DNA primase/ polymerase protein (PolpTN2) encoded by the pTN2 plasmid from Thermococcus nautilus. Sequence analysis revealed that this protein corresponds to a fusion between an N-terminal domain homologous to the small catalytic subunit PriS of heterodimeric archaeal and eukaryotic primases (AEP) and a C-terminal domain related to their large regulatory subunit PriL. This unique domain configuration is not found in other virus-and plasmid-encoded primases in which PriS-like domains are typically fused to different types of helicases. PolpTN2 exhibited primase, polymerase and nucleotidyl transferase activities and specifically incorporates dNTPs, to the exclusion of rNTPs. PolpTN2 could efficiently prime DNA synthesis by the T. nautilus PolB DNA polymerase, suggesting that it is used in vivo as a primase for pTN2 plasmid replication. The N-terminal PriS-like domain of PolpTN2 exhibited all activities of the full-length enzyme but was much less efficient in priming cellular DNA polymerases. Surprisingly, the N-terminal domain possesses reverse transcriptase activity. We speculate that this activity could reflect an ancestral function of AEP proteins in the transition from the RNA to the DNA world.
ISSN: 0305-1048

Droits : http://creativecommons.org/licenses/by/
hal-01332620
http://hal.upmc.fr/hal-01332620
http://hal.upmc.fr/hal-01332620/document
http://hal.upmc.fr/hal-01332620/file/Nucl.%20Acids%20Res.-2014-Gill-3707-19.pdf
DOI : 10.1093/nar/gkt1385

Éditeur(s) : HAL CCSD Elsevier
Résumé : International audience
Since the Shea, J.B. and Morgan (1979) study, investigators have repeatedly shown that the learning of a set of movement patterns (as evaluated in a retention test) is enhanced when acquisition occurred under a random rather than a blocked schedule of practice. Supposedly, this is the case because a random schedule of practice necessitates more elaborate cognitive activities than a blocked schedule before each acquisition trial can be initiated. Our main objective was to determine whether the advantage for learning found for random practice increases as a function of the number of acquisition trials. During acquisition, the results indicated a general tendency for smaller movement reproduction errors under a blocked rather than a random schedule of practice. However, this effect disappeared with larger amount of acquisition trials. In retention, larger errors were observed when acquisition occurred under a blocked rather than a random schedule of practice. Finally, the disadvantage for learning observed for the blocked schedule of practice disappeared under a block-repeated condition in which each movement pattern was first practiced under a blocked schedule which was then repeated a second time. The results are discussed in terms of the so-called contextual interference effect and indicates some of its limitations.
ISSN: 0001-6918

hal-01662846
https://hal.archives-ouvertes.fr/hal-01662846
DOI : 10.1080/00222895.1994.9941657
PUBMED : 8165923

Éditeur(s) : HAL CCSD Elsevier Masson
Résumé : International audience
The only symbiotic Mediterranean gorgonian, Eunicella singularis, has faced several mortality events connected to abnormal high temperatures. Since thermotolerance data remain scarce, heat-induced necrosis was monitored in aquarium by morphometric analysis. Gorgonian tips were sampled at two sites: Medes (Spain) and Riou (France) Islands, and at two depths: 15 m and-35 m. Although coming from contrasting thermal regimes, seawater above 28 degrees C led to rapid and complete tissue necrosis for all four populations. However, at 27 degrees C, the time length leading to 50% tissue necrosis allowed us to classify samples within three classes of thermal sensitivity. Irrespectively of the depth, Medes specimens were either very sensitive or resistant, while Riou fragments presented a medium sensitivity. Microsatellite analysis revealed that host and symbiont were genetically differentiated between sites, but not between depths. Finally, these genetic differentiations were not directly correlated to a specific thermal sensitivity whose molecular bases remain to be discovered.
ISSN: 1631-0691

hal-01546168
https://hal.archives-ouvertes.fr/hal-01546168
DOI : 10.1016/j.crvi.2013.06.008