Éditeur(s) : HAL CCSD Wiley-Blackwell Wiley
Résumé : International audience
Rhodamine 123 is a fluorescent cationic dye commonly used as a mitochondrial probe and known or suspected to be transported by certain drug membrane transporters. The present study was designed to characterize the putative interactions of rhodamine 123 with human organic cation transporter (OCT) 1 and OCT2. Intracellular uptake of the dye was demonstrated to be enhanced in both hOCT1- and hOCT2-overexpressing HEK293 cells when compared with control HEK293 cells. This increase of rhodamine 123 influxes was found to be a saturable carrier-mediated process, with low K(m) values (K(m) = 0.54 μm and K(m ) = 0.61 μm for transport of the dye in hOCT1- and hOCT2-positive HEK293 cells, respectively). Known inhibitors of hOCT1 and hOCT2 activities such as verapamil, amitriptyline, prazosin, and quinine were next demonstrated to decrease rhodamine 123 accumulation in hOCT1- and hOCT2-overexpressing HEK293 cells. In addition, the dye was found to inhibit hOCT1- and hOCT2-mediated uptake of tetraethylammonium (TEA), a model substrate for both hOCT1 and hOCT2; rhodamine 123 appeared nevertheless to be a more potent inhibitor of hOCT1-mediated TEA transport (IC(50) = 0.37 μm) than of that mediated by hOCT2 (IC(50 ) = 61.5 μm). Taken together, these data demonstrate that rhodamine 123 is a high-affinity substrate for both hOCT1 and hOCT2. This dye may be therefore useful for fluorimetrically investigating cellular hOCT1 or hOCT2 activity, knowing, however, that other factors potentially contributing to cellular accumulation of rhodamine 123, including mitochondrial membrane potential or expression of the efflux transporter P-glycoprotein, have also to be considered.
ISSN: 0767-3981

inserm-00872840
http://www.hal.inserm.fr/inserm-00872840
DOI : 10.1111/j.1472-8206.2012.01071.x
PUBMED : 22913740

Éditeur(s) : Wiley-blackwell Publishing, Inc
Résumé : Vibrioses are the predominant bacterial infections in marine shrimp farms. Vibrio nigripulchritudo is an emerging pathogen of the cultured shrimp Litopenaeus stylirostris in New Caledonia and other regions in the Indo-Pacific. The molecular determinants of V. nigripulchritudo pathogenicity are unknown; however, molecular epidemiological studies have revealed that recent pathogenic V. nigripulchritudo isolates from New Caledonia all cluster into a monophyletic clade and contain a small plasmid, pB1067. Here, we report that a large plasmid, pA1066 (247 kb), can also serve as a marker for virulent V. nigripulchritudo, and that an ancestral version of this plasmid was likely acquired prior to other virulence-linked markers. Additionally, we demonstrate that pA1066 is critical for the full virulence of V. nigripulchritudo in several newly developed experimental models of infection. Plasmid pB1067 also contributes to virulence; only strains containing both plasmids induced the highest level of shrimp mortality. Thus, it appears that these plasmids, which are absent from non-pathogenic isolates, may be driving forces, as well as markers, for the emergence of a pathogenic lineage of V. nigripulchritudo.
Environmental Microbiology (1462-2912) (Wiley-blackwell Publishing, Inc), 2011-02 , Vol. 13 , N. 2 , P. 296-306

Droits : 2010 Society for Applied Microbiology and Blackwell Publishing Ltd
http://archimer.ifremer.fr/doc/00031/14196/11469.pdf
DOI:10.1111/j.1462-2920.2010.02329.x
http://archimer.ifremer.fr/doc/00031/14196/

Éditeur(s) : HAL CCSD Wiley
Résumé : A standardized rapid inventory method providing information on both tree species diversity and aboveground carbon stocks in tropical forests will be an important tool for evaluating efforts to conserve biodiversity and to estimate the carbon emissions that result from deforestation and degradation (REDD). Herein, we contrast five common plot methods differing in shape, size, and effort requirements to estimate tree diversity and aboveground tree biomass (AGB). We simulated the methods across six Neotropical forest sites that represent a broad gradient in forest structure, tree species richness, and floristic composition, and we assessed the relative performance of methods by evaluating the bias and precision of their estimates of AGB and tree diversity. For a given sample of forest area, a several small' (<1ha) sampling strategy led to a smaller coefficient of variation (CV) in the estimate of AGB than a few large' one. The effort (person-days) required to achieve an accurate AGB estimate (<10% CV), however, was greater for the smallest plots (0.1ha) than for a compromise approach using 0.5ha modified Gentry plots, which proved to be the most efficient method to estimate AGB across all forest types. Gentry plots were also the most efficient at providing accurate estimates of tree diversity (<10% CV of Hill number). We recommend the use of the 0.5ha modified Gentry plot method in future rapid inventories, and we discuss a set of criteria that should inform any choice of inventory method.
ISSN: 0006-3606

hal-01032408
https://hal.archives-ouvertes.fr/hal-01032408
DOI : 10.1111/btp.12006

Éditeur(s) : HAL CCSD Wiley
Résumé : International audience
BOI1 and BOI2 are paralogs important for the actin cytoskeleton andpolar growth. BOI1 encodes a meiotic transcript isoform with an extended5-untranslated region predicted to impair protein translation. It is,however, unknown how the isoform is repressed during mitosis, and ifBoi1 is present during sporulation. By interpreting microarray data fromMATa cells, MATa/ cells, a starving MAT/ control, and a meiosis-impairedrrp6 mutant, we classified BOI1's extended isoform as earlymeiosis-specific. These results were confirmed by RNA-Sequencing, andextended by a 5-RACE assay and Northern blotting, showing that meioticcells induce the long isoform while the mitotic isoform remainsdetectable during meiosis. We provide evidence via motif predictions, anin vivo binding assay and genetic experiments that the Rpd3/Sin3/Ume6histone deacetylase complex, which represses meiotic genes duringmitosis, also prevents the induction of BOI1's 5-extended isoform inmitosis by direct binding of Ume6 to its URS1 target. Finally, we findthat Boi1 protein levels decline when cells switch from fermentation torespiration and sporulation. The histone deacetylase Rpd3 is conserved,and eukaryotic genes frequently encode transcripts with variable 5-UTRs.Our findings are therefore relevant for regulatory mechanisms involvedin the control of transcript isoforms in multi-cellular organisms.
ISSN: 0950-382X

hal-01122120
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01122120
DOI : 10.1111/mmi.12976
PUBMED : 25708805

Éditeur(s) : HAL CCSD Wiley
Résumé : International audience
This article corrects: The conserved histone deacetylase Rpd3 and the DNA binding regulator Ume6 repress BOI1's meiotic transcript isoform during vegetative growth in Saccharomyces cerevisiae. Vol. 96, Issue 4, 861–874, Article first published online: 21 MAR 2015
ISSN: 0950-382X

hal-01299297
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01299297
DOI : 10.1111/mmi.13297
PUBMED : 25708805

Éditeur(s) : HAL CCSD Wiley
Résumé : International audience
Exposure to disturbance is rarely considered in marine protected area planning. Typically, representing and replicating the habitat types present within protected areas is used to spread the risk of protecting frequently disturbed sites. This was the approach used during the 2004 re-zoning of the Great Barrier Reef Marine Park (GBRMP) via the Representative Areas Program. Over 10 years later, we examine whether the risk was spread by mapping exposure of coral reefs in the GBRMP to four disturbances that cause coral mortality: bleaching, tropical cyclones, crown-of-thorns starfish outbreaks, and freshwater inundation. Our objectives were to: (1) assess whether no-take areas include a range of disturbance regimes, and (2) identify coral reef areas with lower relative exposure. At least 13% and an average of 31% of reef locations in each of 11 exposure classes are included within no-take areas. A greater proportion of low-exposure areas are within no-take areas than high-exposure areas (34.2% vs. 28.3%). The results demonstrate the value of risk spreading when exposure data are not available while also showing that regularly assessing exposure increases capacity for adaptive, resilience-based reef management.
ISSN: 1755-263X

Droits : http://creativecommons.org/licenses/by/
hal-01225201
https://hal-univ-perp.archives-ouvertes.fr/hal-01225201
https://hal-univ-perp.archives-ouvertes.fr/hal-01225201/document
https://hal-univ-perp.archives-ouvertes.fr/hal-01225201/file/Maynard_et_al-2015-Conservation_Letters.pdf
DOI : 10.1111/conl.12198

Éditeur(s) : HAL CCSD Wiley
Résumé : International audience
BACKGROUND: Although adverse birth outcomes have been associated with neighbourhood deprivation in urban areas, few studies have addressed this issue in rural zones. This study examines whether associations between neighbourhood deprivation and adverse birth outcomes differ in urban and rural contexts, while taking individual characteristics and spatial accessibility of prenatal care (SAPC) into account. METHODS: Pregnant women from a French mother-child cohort were recruited from 2002 to 2006 in Brittany. Their residential addresses were geocoded into their census blocks (the finest geographical resolution available). Deprivation was assessed at the same neighbourhood level. Models to assess the associations of deprivation, stratified by urban/rural status, with preterm delivery (PTD), with small for gestational age birth weight (SGA) and with small for gestational age head circumference at birth (SHC), estimated odds ratios (ORs), adjusted for maternal socioeconomic characteristics and SAPC. RESULTS: This study considered 2929 liveborn singleton pregnancies from 780 census blocks. Neighbourhood deprivation was associated with increased risks of SGA and SHC (P trend  extless 0.01 and 0.03 respectively), only among mothers residing in rural areas. Neighbourhood deprivation had statistically significantly heterogeneous effects on SGA and SHC according to the urban/rural status of maternal residence. CONCLUSION: These findings suggest that neighbourhood deprivation affects fetal growth differentially in urban and rural areas and that SAPC does not seem to be responsible for this difference. Comparison of these findings with the literature requires caution in the conceptualisation of urban and rural settings
ISSN: 0269-5022

hal-01187424
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01187424
DOI : 10.1111/ppe.12208
PUBMED : 26186278

Éditeur(s) : Wiley-blackwell
Résumé : 1. Approximately 300 pelagic fish species naturally aggregate around floating objects (FOBs) at the surface of the oceans. Currently, more than 50% of the world catch of tropical tuna comes from the industrial tuna fisheries around drifting FOBs. Greater understanding of the complex decision-making processes leading to this aggregation pattern and the impact of the massive release of artificial FOBs by fishermen on the spatial distribution and management of tuna is needed. 2. We analyse how the interplay between social (relationships between individuals) and non-social (responses to the environment) behaviours may affect the spatial distribution of a population in a multi-FOB environment. Taking the example of tropical tunas associating with FOBs and using differential equations and stochastic simulations, we examine how, when increasing the number of FOBs, fish aggregation dynamics and the distribution of the population among patches are affected by the population size, level of sociality and the natural retentive and/or attractive forces of FOBs on individual tuna. 3. Our model predicts that, depending on the species' level of sociality, fish will be scattered among FOBs or aggregated around a single FOB based on the number of FOBs deployed in a homogeneous oceanic region. 4. For social species, we demonstrated that the total fish catch is reduced with increasing FOBs number. Indeed, for each size of population, there are a number of FOBs minimizing the total population of fish associated with FOBs and another number of FOBs maximizing the total population of associated fish. 5. Synthesis and applications. In terms of fisheries management, the total catch volume is directly linked to the total number of floating objects (FOBs) for non-social species, and any limit on the number of sets would then result in a limit on the total catch. For social species (e.g. tuna), however, increasing the number of FOBs does not necessarily lead to an increase in the total catch, which is a non-intuitive result. Indeed, our model shows that, for specific values of the parameters, deploying a greater number of FOBs in the water (all other parameters being constant) does not necessarily help fishermen to catch more tuna, but does increase the level of fishing effort and bycatch.
Journal Of Applied Ecology (0021-8901) (Wiley-blackwell), 2013-10 , Vol. 50 , N. 5 , P. 1081-1092

Droits : 2013 The Authors. Journal of Applied Ecology, 2013 British Ecological Society
http://archimer.ifremer.fr/doc/00151/26275/24439.pdf
DOI:10.1111/1365-2664.12140
http://archimer.ifremer.fr/doc/00151/26275/

Éditeur(s) : HAL CCSD Wiley-Blackwell
Résumé : International audience
Lawsonite pseudomorphs are used to identify and distinguish the kinematic records of subduction and exhumation in blueschist-facies rocks from Syros (Cyclades; Greece). Lawsonite is a hydrous mineral that crystallizes at high-pressure and low-temperature conditions. During decompression, lawsonite is typically pseudomorphed by an aggregate dominated by epidote and paragonite. Such aggregates are easily deformable and if deformation occurs after the lawsonite breakdown, the pseudomorphs are difficult to distinguish from the matrix. The preservation of the lawsonite crystal shape, despite complete retrogression, indicates therefore that the host blueschist rock has not been affected by penetrative deformation during exhumation, thus providing indication of strain-free conditions. Therefore, tracking the lawsonite growth and destabilization along the P-T path followed by the rocks during a subduction/exhumation cycle provides information about the subduction/exhumation-related deformation. Using microstructural observations and P-T pseudosections calculated with thermocalc, it is inferred that top-to-the-south sense of shear preserved in lawsonite pseudomorph-bearing blueschists on Syros occurred during the prograde metamorphic path within the lawsonite stability field, and is therefore associated with subduction. On the contrary, the deformation with a top-to-the-north sense of shear is observed in surrounding rocks, where lawsonite pseudomorphs are deformed or apparently lacking. This deformation occurred after the lawsonite breakdown during exhumation. At the regional scale, exhumation-related deformation is heterogeneous, allowing the preservation of lawsonite pseudomorphs in significant volumes of blueschists of the central and southern Cyclades. It is argued that such successive shearing deformation events with opposite senses more likely correspond to an exhumation process driven by slab rollback, in which subduction and exhumation are not synchronous
ISSN: 0263-4929

insu-00841214
https://hal-insu.archives-ouvertes.fr/insu-00841214
DOI : 10.1111/jmg.12035

Éditeur(s) : HAL CCSD Wiley
Résumé : International audience
Haplognathia ruberrima is a cosmopolitan gnathostomulid species found in sulfur bacterial mats in mangroves in Guadeloupe (French West Indies). Haplognathia ruberrima presents a d13C value lower than all measured meiofaunal grazers and lower than the available measured food sources of this environment. This low d13C value can not be due to specific ingestion of 13C-depleted methanogenic bacteria because abundances of those bacteria are reduced in surficial and deep sediments as revealed by d13C of bacterial fatty acid. According to scanning electron microscope observations, no bacterial ectosymbionts were observed at the surface of the gnathostomulids, and transmission electronmicroscope views revealed the absence of bacterial endosymbionts. Energy-dispersive X-ray spectroscopy analysis detected low levels of sulfur (0.32%+-0.8) in biological tissues of H. ruberrima, confirming the absence of thioautotrophic bacterial symbionts in these animals. Consequently, the low d13C value of H. ruberrima can not be due to the presence of sulfur-oxidizing symbionts but more probably to the selective and exclusive consumption of free-living, sulfuroxidizing bacteria
ISSN: 0173-9565

hal-01253239
https://hal.archives-ouvertes.fr/hal-01253239
DOI : 10.1111/maec.12296

Éditeur(s) : HAL CCSD Wiley
Résumé : International audience
MR and MDHD contributed equally to this work. Summary Painful vaso-occlusive crisis, a hallmark of sickle cell anaemia, results from complex, incompletely understood mechanisms. Red blood cell (RBC) damage caused by continuous endogenous and exogenous oxidative stress may precipitate the occurrence of vaso-occlusive crises. In order to gain insight into the relevance of oxidative stress in vaso-occlusive crisis occurrence , we prospectively compared the expression levels of various oxidative markers in 32 adults with sickle cell anaemia during vaso-occlusive crisis and steady-state conditions. Compared to steady-state condition, plasma levels of free haem, advanced oxidation protein products and myeloperoxi-dase, RBC caspase-3 activity, as well as the concentrations of total, neutrophil-and RBC-derived microparticles were increased during vaso-occlusive crises, whereas the reduced glutathione content was decreased in RBCs. In addition, natural anti-band 3 autoantibodies levels decreased during crisis and were negatively correlated with the rise in plasma advanced oxidation protein products and RBC caspase-3 activity. These data showed an exacerbation of the oxidative stress during vaso-occlusive crises in sickle cell anaemia patients and strongly suggest that the higher concentration of harmful circulating RBC-derived microparticles and the reduced anti-band 3 autoantibodies levels may be both related to the recruitment of oxidized band 3 into membrane aggregates.
ISSN: 0007-1048

inserm-01476067
http://www.hal.inserm.fr/inserm-01476067
http://www.hal.inserm.fr/inserm-01476067/document
http://www.hal.inserm.fr/inserm-01476067/file/2016%2C%20Hierso%20-%20Exacerbation%20of%20oxidative%20stress%20during%20sickle%20vaso-occlusive%20crisis.pdf
DOI : 10.1111/bjh.14476

Éditeur(s) : HAL CCSD Wiley-Blackwell
Résumé : International audience
This paper aims to decipher the thermal evolution of the Montagne Noire Axial Zone (MNAZ,southern French Massif Central) gneiss core and its metasedimentary cover through determination ofP–T paths and temperature gradients. Migmatitic gneiss from the core of the dome record a clock-wise evolution culminating at 725 25 °C and 0.8 0.1 GPa with partial melting, followed by adecompression path with only minor cooling to 690 25° C and 0.4 0.1 GPa. Field structuralanalyses as well as detailed petrological observations interpreted in a petrogenetic grid indicate thatthe cover sequence experienced LP-HT metamorphism at <0.4 GPa. Apparent thermal gradientswithin the cover were determined with garnet–biotite thermometry and Raman Spectroscopy on Car-bonaceous Matter. High-temperature apparent gradients (e.g. 530 °C km1 along one transect) areexplained by late brittle–ductile extensional shearing evidenced by phyllonites that post-date peakmetamorphism. In areas where normal faults are less abundant and closely spaced, gradients of 20to 50 °C km1 are calculated. These gradients can be accounted for by a combination of domeemplacement and ductile shearing (collapse of isotherms), without additional heat input. Finally, thethermal evolution of the MNAZ is typical for many gneiss domes worldwide as well as with otherLP-HT terranes in the Variscides.
ISSN: 0263-4929

Droits : http://creativecommons.org/licenses/by-nc-nd/
insu-01290388
https://hal-insu.archives-ouvertes.fr/insu-01290388
https://hal-insu.archives-ouvertes.fr/insu-01290388/document
https://hal-insu.archives-ouvertes.fr/insu-01290388/file/jmg12188.pdf
DOI : 10.1111/jmg.12188

Éditeur(s) : HAL CCSD Wiley
Résumé : International audience
BACKGROUND: An association between education and preterm delivery has been observed in populations across Europe, but differences in methodology limit comparability. We performed a direct cross-cohort comparison of educational disparities in preterm delivery based on individual-level birth cohort data. METHODS: The study included data from 12 European cohorts from Denmark, England, France, Lithuania, the Netherlands, Norway, Italy, Portugal, and Spain. The cohorts included between 2434 and 99 655 pregnancies. The association between maternal education and preterm delivery (22-36 completed weeks of gestation) was reported as risk ratios, risk differences, and slope indexes of inequality with 95% confidence intervals (CIs). RESULTS: Singleton preterm live delivery proportion varied between 3.7% and 7.5%. There were large variations between the cohorts in the distribution of education and maternal characteristics. Nevertheless, there were similar educational differences in risk of preterm delivery in 8 of the 12 cohorts with slope index of inequality varying between 2.2 [95% CI 1.1, 3.3] and 4.0 [95% CI 1.4, 6.6] excess preterm deliveries per 100 singleton deliveries among the educationally most disadvantaged, and risk ratio between the lowest and highest education category varying from 1.4 [95% CI 1.1, 1.8] to 1.9 [95% CI 1.2, 3.1]. No associations were found in the last four cohorts. CONCLUSIONS: Educational disparities in preterm delivery were found all over Europe. Despite differences in the distributions of education and preterm delivery, the results were remarkably similar across the cohorts. For those few cohorts that did not follow the pattern, study and country characteristics did not explain the differences.
ISSN: 0269-5022

hal-01146842
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01146842
DOI : 10.1111/ppe.12185
PUBMED : 25808200

Éditeur(s) : HAL CCSD Wiley
Résumé : absent
ISSN: 1354-1013

hal-01204212
https://hal.archives-ouvertes.fr/hal-01204212
PRODINRA : 261473
PUBMED : 23996917

Éditeur(s) : HAL CCSD Wiley
Résumé : International audience
ISSN: 0905-7188

hal-00703464
https://hal.univ-antilles.fr/hal-00703464
DOI : 10.1111/j.1600-0838.2009.00944.x

Éditeur(s) : HAL CCSD Wiley
Résumé : International audience
This article documents several cases of widespread species, which usually mimic other widespread species throughout the Indo–Pacific, using endemic Marquesan species as a model and displaying endemic mimicry patterns. This discovery adds a new line of evidence to the uniqueness of the Marquesas Islands, which not only host a high number of endemic reef–fish species, but also endemic mimicry patterns.
ISSN: 0022-1112

hal-01338324
http://hal.upmc.fr/hal-01338324
http://hal.upmc.fr/hal-01338324/document
http://hal.upmc.fr/hal-01338324/file/2016_Delrieu%E2%80%90Trottin%20et%20al_When%20endemic.pdf
DOI : 10.1111/jfb.13050

Éditeur(s) : Wiley-blackwell Publishing, Inc
Résumé : Vibrio splendidus, strain LGP32, is an oyster pathogen associated with the summer mortalities affecting the production of Crassostrea gigas oysters worldwide. Vibrio splendidus LGP32 was shown to resist to up to 10 mu M Cg-Def defensin and Cg-BPI bactericidal permeability increasing protein, two antimicrobial peptides/proteins (AMPs) involved in C. gigas immunity. The resistance to both oyster Cg-Def and Cg-BPI and standard AMPs (polymyxin B, protegrin, human BPI) was dependent on the ompU gene. Indeed, upon ompU inactivation, minimal bactericidal concentrations decreased by up to fourfold. AMP resistance was restored upon ectopic expression of ompU. The susceptibility of bacterial membranes to AMP-induced damages was independent of the ompU-mediated AMP resistance. Besides its role in AMP resistance, ompU proved to be essential for the adherence of V. splendidus LGP32 to fibronectin. Interestingly, in vivo, ompU was identified as a major determinant of V. spiendidus pathogenicity in oyster experimental infections. Indeed, the V. splendidus-induced oyster mortalities dropped from 56% to 11% upon ompU mutation (Kaplan Meier survival curves, P < 0.01). Moreover, in co-infection assays, the ompU mutant was out competed by the wild-type strain with competitive indexes in the range of 0.1-0.2. From this study, ompU is required for virulence of V. splendidus. Contributing to AMP resistance, conferring adhesive properties to V. splendidus, and being essential for in vivo fitness, the OmpU porin appears as an essential effector of the C. gigas/V. splendidus interaction.
Environmental Microbiology (1462-2912) (Wiley-blackwell Publishing, Inc), 2010-04 , Vol. 12 , N. 4 , P. 951-963

Droits : 2010 Society for Applied Microbiology and Blackwell Publishing Ltd
http://archimer.ifremer.fr/doc/00003/11421/8044.pdf
DOI:10.1111/j.1462-2920.2009.02138.x
http://archimer.ifremer.fr/doc/00003/11421/

Éditeur(s) : HAL CCSD Wiley
Résumé : International audience
Within the framework of the international field campaign COPS (Convective and Orographically induced Precipitation Study), a large suite of state-of-the-art meteorological instrumentation was operated, partially combined for the first time. This includes networks of in situ and remote-sensing systems such as the Global Positioning System as well as a synergy of multi-wavelength passive and active remote-sensing instruments such as advanced radar and lidar systems. The COPS field phase was performed from 01 June to 31 August 2007 in a low-mountain area in southwestern Germany/eastern France covering the Vosges mountains, the Rhine valley and the Black Forest mountains. The collected dataset covers the entire evolution of convective precipitation events in complex terrain from their initiation, to their development and mature phase until their decay. Eighteen Intensive Observations Periods with 37 operation days and eight additional Special Observations Periods were performed, providing a comprehensive dataset covering different forcing conditions. In this article, an overview of the COPS scientific strategy, the field phase, and its first accomplishments is given. Highlights of the campaign are illustrated with several measurement examples. It is demonstrated that COPS research provides new insight into key processes leading to convection initiation and to the modification of precipitation by orography, in the improvement of quantitative precipitation forecasting by the assimilation of new observations, and in the performance of ensembles of convection-permitting models in complex terrain.
ISSN: 0035-9009

hal-00565513
https://hal.archives-ouvertes.fr/hal-00565513
DOI : 10.1002/qj.752

Éditeur(s) : HAL CCSD Wiley
Résumé : International audience
Holoprosencephaly (HPE) is the most common congenital cerebral malformation, characterized by impaired forebrain cleavage and midline facial anomalies. Heterozygous mutations in 14 genes have been associated with HPE, and are often inherited from an unaffected parent underlying complex genetic bases. It is now emerging that HPE may result from a combination of multiple genetic events, rather than from a single heterozygous mutation. To explore this hypothesis, we undertook whole exome sequencing (WES) and targeted high-throughput sequencing approaches to identify mutations in HPE subjects. We report here two HPE families in which two mutations are implicated in the disease. In the first family presenting two fetuses with alobar and semi-lobar HPE, we found mutations in two genes involved in HPE, SHH and DISP1, inherited respectively from the father and the mother. The second reported case is a family with a 9-year old girl presenting lobar HPE, harbouring two compound heterozygous mutations in DISP1. Together, these cases of digenic inheritance SHH/DISP1 and autosomal recessive HPE suggest that in some families, several genetic events are necessary to cause HPE. This study highlights the complexity of HPE inheritance and has to be taken into account by clinicians to improve HPE genetic counseling.
ISSN: 0009-9163

hal-01259228
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01259228
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01259228/document
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01259228/file/Complex%20mode%20of%20inheritance%20in%20holoprosencephaly_accepted.pdf
DOI : 10.1111/cge.12722

Éditeur(s) : HAL CCSD Wiley-Blackwell
Résumé : International audience
ISSN: 0168-6496

hal-01682106
https://hal.univ-antilles.fr/hal-01682106
DOI : 10.1111/1574-6941.12366