Éditeur(s) : HAL CCSD Wiley
Résumé :  
The chloroplast genome has been widely used to describe genetic diversity in plant species. Its maternal inheritance in numerous angiosperm species and low mutation rate are suitable characters when inferring historical events such as possible recolonization routes. Here we have studied chloroplast DNA variation using PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) with seven pairs of primers and four restriction enzymes in 14 populations of Vouacapoua americana (Caesalpiniaceae) a neotropical tree sampled throughout French Guiana. Population diversity (Hs), total gene diversity (Ht) and differentiation among populations (GST) were estimated using Nei's method as 0.09, 0.87 and 0.89, respectively. This is consistent with the limited gene flow associated with synzoochory in this species. The genetic structure observed in the north of French Guiana suggests that historical events such as contractions and recent recolonizations have had a large impact on the distribution of genetic diversity in this species.
ISSN: 0962-1083

hal-01032176
https://hal.archives-ouvertes.fr/hal-01032176
DOI : 10.1046/j.1365-294x.2000.01027.x

Éditeur(s) : HAL CCSD Wiley Open Access
Résumé : International audience
Assessing population connectivity is necessary to construct effective marine protected areas. This connectivity depends, among other parameters, inherently on species dispersal capacities. Isolation by distance (IBD) is one of the main modes of differentiation in marine species, above all in species presenting low dispersal abilities. This study reports the genetic structuring in the tropical hydrozoan Macrorhynchia phoenicea (sensu Postaire et al., 2016a), a brooding species, from 30 sampling sites in the Western Indian Ocean and the Tropical Southwestern Pacific, using 15 microsatellite loci. At the local scale, genet dispersal relied on asexual propagation at short distance, which was not found at larger scales. Considering one representative per clone, significant positive F-IS values (from -0.327*** to 0.411***) were found within almost all sites. Gene flow was extremely low at all spatial scales, among sites within islands (<10km distance) and among islands (100 to >11,000km distance), with significant pairwise F-ST values (from 0.035*** to 0.645***). A general pattern of IBD was found at the Indo-Pacific scale, but also within ecoregions in the Western Indian Ocean province. Clustering and network analyses identified each island as a potential independent population, while analysis of molecular variance indicated that population genetic differentiation was significant at small (within island) and intermediate (among islands within province) spatial scales. As shown by this species, a brooding life cycle might be corollary of the high population differentiation found in some coastal marine species, thwarting regular dispersal at distances more than a few kilometers and probably leading to high cryptic diversity, each island housing independent evolutionary lineages.
ISSN: 2045-7758

hal-01681593
https://hal.archives-ouvertes.fr/hal-01681593
DOI : 10.1002/ece3.3236

Éditeur(s) : Springer
Résumé : Clonality and genetic structure of the coral Pocillopora damicornis sensu lato were assessed using five microsatellites in 12 populations from four islands of the Society Archipelago (French Polynesia) sampled in June 2008. The 427 analysed specimens fell into 132 multilocus genotypes (MLGs), suggesting that asexual reproduction plays an important role in the maintenance of these populations. A haploweb analysis of ITS2 sequences of each MLG was consistent with all of them being conspecific. Genetic differentiation was detected both between and within islands, but when a single sample per MLG was included in the analyses, the populations turned out to be nearly panmictic. These observations provide further evidence of the marked variability in reproductive strategies and genetic structure of P. damicornis throughout its geographic range; comparison with results previously obtained for the congeneric species Pocillopora meandrina underlines the importance of life history traits in shaping the genetic structure of coral populations
Marine Biology (0025-3162) (Springer), 2014-03 , Vol. 161 , N. 3 , P. 531-541

Droits : Springer-Verlag Berlin Heidelberg 2013
http://archimer.ifremer.fr/doc/00171/28209/26518.pdf
DOI:10.1007/s00227-013-2355-9
http://archimer.ifremer.fr/doc/00171/28209/

Résumé : Les deux principaux objectifs de ce travail sont de proposer des outils pour la selection d'animaux résistants aux strongles gastro-intestinaux, parasites du tube digestif, et de faire progresser la compréhension des mécanismes de résistance chez la chèvre créole. La variabilité génétique du caractère de résistance au parasitisme digestif a été étudiée afin de vérifier quels critères décrivant le mieux la résistance, peuvent être utilisés pour la sélection. L'ensemble des résultats obtenus suggèrent que le critère d'excrétion d'oeufs et le critère d'éosinophilie sont les plus adaptés pour un schéma de sélection puisqu'ils possèdent une héritabillté moyenne et représentent le mieux la résistance. De plus, ils ne semblent pas en opposition avec le poids, principal critère de production. Le déterminisme génétique de la résistance aux strongles gastro-intestinaux a été étudié et a permis de mettre en évidence l'existence d'un gène majeur pour la résistance chez la population de chèvre créole. De plus, la primo-détection de qtl a permis d'identifier 13 régions du génome ayant un effet sur les critères de résistance. Les mécanismes responsables de la résistance aux strongles gastro-intestinaux ont également été à l'étude. L'ensemble des résultats met en évidence le rôle des éosinophiles dans la mise en place de la résistance aux strongles gastro-intestinaux. L'activité des immunogobulines e semblent dirigés vers les larves l3 d'haemonchus contortus et suggère la mise en place d'une réaction protectrice. Chez la chèvre créole. Ces deux mécanismes semblent donc jouer un rôle important dans la mise en place de la résistance aux strongles gastro-intestinaux
The two main objectives of this work are to propose tools for the selection of resistant animals to gastrointestinal nematodes and advance knowledge on mechanisms of resistance of creole goats. this work has analysed the genetic variability of resistance to digestive parasitism in order to determine which criteria best describes the resistance and can be use for selection. the overall results suggest that the egg excretion and the eosinophilia are the criteria most suitable for a breeding scheme because they have moderate heritability estimates and best represent the resistance. moreover, they do not seem in conflict with the weight, the main criterion of production. the genetic determinism of resistance to gastrointestinal parasites has been studied and has highlighted the existence of a major gene for resistance in creole goats. in addition, the primodetection of qtl identified 13 genomic regions that affect the resistance. the mechanisms behind the resistance to gastrointestinal parasites were also studied and first hypothesis regarding the involvment of the immune response in resistance have been made in goats. the overall results highlighted the role of eosinophils in the development of resistance to gastrointestinal nematodes. the activity of immunoglobulin e seems directed toward l3 larvae of haemonchus contortus and may be imply in the establishment of a protective response agasint nematode parasites. in creole goats, these two mechanisms seem to play an important role in the development of resistance to gastrointestinal nematode infections

http://www.theses.fr/2011AGUY0407/document

Éditeur(s) : HAL CCSD Oxford University Press (OUP)
Résumé : International audience
The newly-desribed Centropyge cocosensis has long been considered a variant of the lemonpeel pygmy angelfish C. flavissima because of their overall similarity in color patterns. DiBattista and co-authors [J. Hered. 107 (2016) 647–653] recently contested the validity of C. cocosensis, based on arguments that are challenged here.
ISSN: 0022-1503

ird-01525431
http://hal.ird.fr/ird-01525431
http://hal.ird.fr/ird-01525431/document
http://hal.ird.fr/ird-01525431/file/Letter%20to%20Editor_JHered%20p%20haL.pdf
DOI : 10.1093/jhered/esx008

Éditeur(s) : HAL CCSD Nature Publishing Group
Résumé : International audience
Epigenetics, as a DNA signature that affects gene expression and enables rapid reaction of an organism to environmental changes, is likely involved in the process of biological invasions. DNA methylation is an epigenetic mechanism common to plants and animals for regulating gene expression. In this study we show, for the first time in any marine species, significant reduction of global methylation levels during the expansive phase of a pygmy mussel (Xenostrobus securis) recent invasion in Europe (twoyear old), while in older introductions such epigenetic signature of invasion was progressively reduced. Decreased methylation was interpreted as a rapid way of increasing phenotypic plasticity that would help invasive populations to thrive. This epigenetic signature of early invasion was stronger than the expected environmental signature of environmental stress in younger populations sampled from ports, otherwise detected in a much older population (>90 year old) of the also invasive tubewormFicopomatus enigmaticus established in similar locations. Higher epigenetic than genetic diversity found in X. securis was confirmed from F. enigmaticus samples. As reported for introduced plants and vertebrates, epigenetic variation could compensate for relatively lower genetic variation caused by founder effects. These phenomena were compared with epigenetic mechanisms involved in metastasis, as parallel processes of community (biological invasion) and organism (cancer) invasions.
ISSN: 2045-2322

hal-01488962
https://hal-univ-perp.archives-ouvertes.fr/hal-01488962
https://hal-univ-perp.archives-ouvertes.fr/hal-01488962/document
https://hal-univ-perp.archives-ouvertes.fr/hal-01488962/file/Epigenetic.pdf
DOI : 10.1038/srep42193

Éditeur(s) : HAL CCSD BioMed Central
Résumé : Le régime de reproduction de Dicorynia guianensis (caesalpiniaceae), arbre de la forêt guyanaise a été étudié à l'aide des marqueurs enzymatiques. Le matériel végétal a été collecté en 1993 et 1995, sur le dispositif sylvicole de Paracou. Le taux d'allofécondation moyen de la population est élevé, tm = 0,85, stable d'une année à l'autre malgré une variation importante du taux de floraison. Le taux individuel varie entre les arbres mais aucune corrélation n'a pu être établie avec des facteurs spatiaux, densité de floraison ou distance aux plus proches voisins. L'hétérogénéité des nuages polliniques est sensible au niveau des agrégats et des arbres individuels, échelle spatiale où se déploie l'activité des insectes pollinisateurs. Nous n'avons en évidence aucune corrélation spatiale entre compositions des nuages polliniques individuels. Des distances de migration du pollen de 190 mètres ont été mise en évidence grâce aux allèles rares. Aucune différence significative du régime de reproduction de D. guianensis n'a été trouvée entre parcelles traitées et parcelles témoin du dispositif.
ISSN: 0999-193X

hal-01032370
https://hal.archives-ouvertes.fr/hal-01032370

Éditeur(s) : HAL CCSD Springer Verlag
Résumé : International audience
Introduction The Latitudinal Gradient Hypothesis (LGH) foresees that specialized metabolites are overexpressed under low latitudes, where organisms are subjected to higher herbivory pressure. The widespread macroalga Asparagopsis taxiformis is composed of six distinct genetic lineages, some of them being introduced in many regions. Objectives To study (i) metabolic fingerprints of the macroalga and (ii) its bioactivity in space and time, both as proxies of its investment in defensive traits, in order to assess links between bioactivities and metabotypes with macroalgal invasiveness. Methods 289 macroalgal individuals, from four tropical and three temperate regions, were analyzed using untargeted metabolomics and the standardized Microtox (R) assay. Results Metabotypes showed a low divergence between tropical and temperate populations, while bioactivities were higher in temperate populations. However, these phenotypes varied significantly in time, with a higher variability in tropical regions. Bioactivities were high and stable in temperate regions, whereas they were low and much variable in tropical regions. Although the introduced lineage two exhibited the highest bioactivities, this lineage could also present variable proliferation fates. Conclusion The metabolomic approach partly discriminates macroalgal populations from various geographic origins. The production of chemical defenses assessed by the bioactivity assay does not match the macroalgal genetic lineage and seems more driven by the environment. The higher content of chemical defenses in temperate versus tropical populations is not in accordance with the LGH and cannot be related to the invasiveness of the macroalgae.
ISSN: 1573-3882

hal-01681538
https://hal.archives-ouvertes.fr/hal-01681538
DOI : 10.1007/s11306-017-1169-z

Éditeur(s) : HAL CCSD BioMed Central
Résumé : International audience
Background: Ovarian failure (OF) is considered premature if it occurs before the age of 40. This study investigates the genetic aetiology underlying OF in women under the age of 40 years. Methods: We conducted an experimental prospective study performing all genome microarrays in 60 patients younger than 40 years presenting an OF revealed by a decrease of circulating Anti-Mullerian Hormone (AMH) and leading to an oocyte donation program. Results: We identified nine significant copy number variations (CNVs) including candidate genes potentially implicated in reproductive function. These genes are principally involved in cell division and chromosome segregation (SYCE1, CLASP1, CENP-A, CDC16), in ciliary development and/or function (RSPH1, KIF24), are linked with known gonadal genes or expressed in female genital tract (CSMD1, SEMA6D, KIAA1324). Conclusions: Our data strengthen the idea that microarrays should be used in combination with karyotype for aetiological assessment of patients with OF. This analysis may have a therapeutic impact as the identification of new molecular actors for gonadal development or ovarian physiology is useful for the prediction of an ovarian reserve decline and makes possible preventive fertility preservation.
ISSN: 1757-2215

hal-01390979
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01390979
DOI : 10.1186/s13048-016-0272-5
PUBMED : 27716277

Éditeur(s) : HAL CCSD Wiley
Résumé : [b]Aim[/b][br/] [br/] The phylogeographical history of Neotropical species can be difficult to reconstruct because of superimposed Neogene and Quaternary histories, and because of taxonomic uncertainty. We analysed range-wide genetic diversity in a widespread pioneer tree species, Jacaranda copaia (Aubl.) D. Don, to characterize phylogeographical structure, date the evolutionary relationships among lineages, and evaluate the role of dispersal and vicariance in establishing the present geographical range.[br/] [br/] [br/] [b]Location[/b][br/] [br/] Guiana Shield; central, southern and western Amazon Basin; Chocó region; Central America.[br/] [br/] [br/] [b]Methods[/b][br/] [br/] We analysed nine nuclear simple sequence repeat loci (nuSSR), eight chloroplast SSRs (cpSSR), and two cpDNA intergenic sequences in 341 adult trees. Genetic differentiation at nuSSRs was inferred using Bayesian clustering. Dating of chloroplast lineage divergence was obtained using a range of published mutation rates and Bayesian coalescence analyses. Population divergence dating was performed using an isolation-with-migration model for eight loci (one cp sequence and seven nuSSRs).[br/] [br/] [br/] [b]Results[/b][br/] [br/] Nuclear SSR variation identified three geographically overlapping clusters (nu-1, nu-2, nu-3). Twelve cpDNA haplotypes were clustered into two haplogroups (cp-1, cp-2) with the central Amazon harbouring the highest diversity. Molecular dating analysis suggests that cpDNA haplotype diversification started around the end of the Pliocene (2.61 Ma on average), whereas population divergence was more recent and occurred during the mid-Quaternary (point estimates between 357 and 436 ka).[br/] [br/] [br/] [b]Main conclusions[/b][br/] [br/] The genetic variation of J. copaia in the Neotropics was shaped mainly by Pleistocene events. Chloroplast diversity did not display the expected cis/trans Andean disjunction, indicating recent dispersal. Nuclear variation revealed that separate regions share a recent history, with a centre of diversity in the central Amazon Basin. The geographical pattern of diversity is congruent with the distribution of the two subspecies, J. copaia copaia and J. copaia spectabilis, and evidence of nuSSR admixture between the two taxa supports their classification as subspecies.
ISSN: 0305-0270

hal-01032410
https://hal.archives-ouvertes.fr/hal-01032410
DOI : 10.1111/j.1365-2699.2012.02797.x

Éditeur(s) : HAL CCSD Oxford University Press
Résumé : International audience
It was recently reported that the sizes of many mRNAs change when budding yeast cells exit mitosis and enter the meiotic differentiation pathway. These differences were attributed to length variations of their untranslated regions. The function of UTRs in protein translation is well established. However, the mechanism controlling the expression of distinct transcript isoforms during mitotic growth and meiotic development is unknown. In this study, we order developmentally regulated transcript isoforms according to their expression at specific stages during meiosis and gametogenesis, as compared to vegetative growth and starvation. We employ regulatory motif prediction, in vivo protein-DNA binding assays, genetic analyses and monitoring of epigenetic amino acid modification patterns to identify a novel role for Rpd3 and Ume6, two components of a histone deacetylase complex already known to repress early meiosis-specific genes in dividing cells, in mitotic repression of meiosis-specific transcript isoforms. Our findings classify developmental stage-specific early, middle and late meiotic transcript isoforms, and they point to a novel HDAC-dependent control mechanism for flexible transcript architecture during cell growth and differentiation. Since Rpd3 is highly conserved and ubiquitously expressed in many tissues, our results are likely relevant for development and disease in higher eukaryotes.
ISSN: 0305-1048

Droits : http://creativecommons.org/licenses/by/
hal-01122128
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01122128
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01122128/document
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01122128/file/The%20conserved%20histone%20deacetylase.pdf
DOI : 10.1093/nar/gku1185

Éditeur(s) : HAL CCSD Public Library of Science
Résumé : International audience
Amelotin (AMTN) is an ameloblast-secreted protein that belongs to the secretory calcium-binding phosphoprotein family, which also includes the enamel matrix proteins amelogenin, ameloblastin and enamelin. Although AMTN is supposed to play an important role in enamel formation, data were long limited to the rodents, in which it is expressed during the maturation stage. Recent comparative studies in sauropsids and amphibians revealed that (i) AMTN was expressed earlier, i.e. as soon as ameloblasts are depositing the enamel matrix, and (ii) AMTN structure was different, a change which mostly resulted from an intraexonic splicing in the large exon 8 of an ancestral mammal. The present study was performed to know whether the differences in AMTN structure and expression in rodents compared to non-mammalian tetrapods dated back to an early ancestral mammal or were acquired later in mammalian evolution. We sequenced, assembled and screened the jaw transcriptome of a neonate opossum Monodelphis domestica, a marsupial. We found two AMTN transcripts. Variant 1, representing 70.8% of AMTN transcripts, displayed the structure known in rodents, whereas variant 2 (29.2%) exhibited the nonmammalian tetrapod structure. Then, we studied AMTN expression during amelogenesis in a neonate specimen. We obtained similar data as those reported in rodents. These findings indicate that more than 180 million years ago, before the divergence of marsupials and placentals, changes occurred in AMTN function and structure. The spatiotemporal expression was delayed to the maturation stage of amelogenesis and the intraexonic splicing gave rise to isoform 1, encoded by variant 1 and lacking the RGD motif. The ancestral isoform 2, housing the RGD, was initially conserved, as demonstrated here in a marsupial, then secondarily lost in the placental lineages. These findings bring new elements towards our understanding of the non-prismatic to prismatic enamel transition that occurred at the onset of mammals.
ISSN: 1932-6203

Droits : http://creativecommons.org/licenses/by/
hal-01233552
https://hal.archives-ouvertes.fr/hal-01233552
https://hal.archives-ouvertes.fr/hal-01233552/document
https://hal.archives-ouvertes.fr/hal-01233552/file/journal.pone.0133314.pdf
DOI : 10.1371/journal.pone.0133314

Éditeur(s) : HAL CCSD Springer Verlag
Résumé : Understanding the ability of ecosystem processes to resist to and to recover from disturbances is critical to sustainable land use. However, the spatial variability of the stability has rarely been addressed. Here, we investigated the functional stability of a soil microbial process for 24 soils collected from adjacent locations from a 0.3 ha tropical rainforest plot in Paracou, French Guiana. The 24 locations were characterized regarding soil chemical and biological (microbial diversity) parameters and forest structure. The corresponding soils were submitted to an experimental transient heat disturbance during a microcosm experiment. The response of the respiration process was followed using substrate-induced respiration (SIR). The response of soil SIR to heat disturbance varied widely between samples. The variability of the SIR response increased just after the disturbance, and a global rather homogeneous decrease in SIR rates was observed 15 and 30 days after. The stability of SIR in response to heat disturbance could not be related to either the genetic or the metabolic diversity of the microbial community. The initial level of SIR before the disturbance was the soil variable that best correlated with the impact of the disturbance: the soil locations with the highest initial SIR rates were the most affected 15 and 30 days after the heat disturbance. Such a heterogeneous response suggests that the response of soil processes to a disturbance will be difficult to assess from only local-scale analyses and highlights the need for spatial explicitness in understanding biogeochemical processes.
ISSN: 1439-0108

hal-01204209
https://hal.archives-ouvertes.fr/hal-01204209
DOI : 10.1007/s11368-012-0528-7
PRODINRA : 214444

Éditeur(s) : HAL CCSD National Institute of Environmental Health Sciences
Résumé : International audience
Safe drinking water is essential for well-being. Although microbiological contamination remains the largest cause of water-related morbidity and mortality globally, chemicals in water supplies may also cause disease, and evidence of the human health consequences is limited or lacking for many of them. We aimed to summarize the state of knowledge, identify gaps in understanding, and provide recommendations for epidemiological research relating to chemicals occurring in drinking water. Assessing exposure and the health consequences of chemicals in drinking water is challenging. Exposures are typically at low concentrations, measurements in water are frequently insufficient, chemicals are present in mixtures, exposure periods are usually long, multiple exposure routes may be involved, and valid biomarkers reflecting the relevant exposure period are scarce. In addition, the magnitude of the relative risks tends to be small. Research should include well-designed epidemiological studies covering regions with contrasting contaminant levels and sufficient sample size; comprehensive evaluation of contaminant occurrence in combination with bioassays integrating the effect of complex mixtures; sufficient numbers of measurements in water to evaluate geographical and temporal variability; detailed information on personal habits resulting in exposure (e.g., ingestion, showering, swimming, diet); collection of biological samples to measure relevant biomarkers; and advanced statistical models to estimate exposure and relative risks, considering methods to address measurement error. Last, the incorporation of molecular markers of early biological effects and genetic susceptibility is essential to understand the mechanisms of action. There is a particular knowledge gap and need to evaluate human exposure and the risks of a wide range of emerging contaminants.
ISSN: 0091-6765

hal-01118530
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01118530
PUBMED : 24380896
DOI : 10.1289/ehp.1206229
PUBMEDCENTRAL : PMC3948022

Éditeur(s) : HAL CCSD
Résumé :  
Improvement of wood quality related traits is currently hampered by costly chemical and technological assays and the necessity to wait until the trees are nearly mature to evaluate wood properties. The availability of a vast quantity of genomic data opens now a new avenue to identify early selection criteria based on molecular information and therefore increase selection efficiency. Association mapping is becoming a method of choice to identify QTN (quantitative trait nucleotide) that contribute to complex trait variation. The implementation of this approach requires on the one hand knowledge of the molecular mechanisms underlying trait variation and polymorphism within candidate genes, and on the other hand the availability of phenotypically well characterized genetic material. We are developing this strategy in the frame of the French maritime pine breeding program, an economically important forest tree species in the South Western Europe. About 500 trees from the breeding population were evaluated for wood physical and chemical properties through the analysis of 2,800 half-sib progenies and 1,500 clones in 8 field tests. These same trees are being genotyped at 185 SNPs obtained from the sequencing of 41 candidate genes, and an additional set of 200 eSNPs detected in 147 EST-contigs (to be used as control). Statistical association between the breeding values of the 500 trees and their respective genotypes will be tested using mixed models accounting for relatedness among individuals of the breeding population.
IUFRO-CTIA joint conference, "Adaptation, Breeding and Conservation in the Era of Forest Tree Genomics and Environmental Change"
Québec City, Canada

hal-01032075
https://hal.archives-ouvertes.fr/hal-01032075

Éditeur(s) : HAL CCSD Taylor & Francis
Résumé : International audience
The origin of replication complex subunit ORC1 is important for DNA replication. The gene is known to encode a meiotic transcript isoform (mORC1) with an extended 5′-untranslated region (5′-UTR), which was predicted to inhibit protein translation. However, the regulatory mechanism that controls the mORC1 transcript isoform is unknown and no molecular biological evidence for a role of mORC1 in negatively regulating Orc1 protein during gametogenesis is available. By interpreting RNA profiling data obtained with growing and sporulating diploid cells, mitotic haploid cells, and a starving diploid control strain, we determined that mORC1 is a middle meiotic transcript isoform. Regulatory motif predictions and genetic experiments reveal that the activator Ndt80 and its middle sporulation element (MSE) target motif are required for the full induction of mORC1 and the divergently transcribed meiotic SMA2 locus. Furthermore, we find that the MSE-binding negative regulator Sum1 represses both mORC1 and SMA2 during mitotic growth. Finally, we demonstrate that an MSE deletion strain, which cannot induce mORC1, contains abnormally high Orc1 levels during post-meiotic stages of gametogenesis. Our results reveal the regulatory mechanism that controls mORC1, highlighting a novel developmental stage-specific role for the MSE element in bi-directional mORC1/SMA2 gene activation, and correlating mORC1 induction with declining Orc1 protein levels. Because eukaryotic genes frequently encode multiple transcripts possessing 5′-UTRs of variable length, our results are likely relevant for gene expression during development and disease in higher eukaryotes. © 2016 Taylor & Francis Group, LLC.
ISSN: 1547-6286

hal-01367153
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01367153
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01367153/document
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01367153/file/Ndt80%20activates%20the%20meiotic%20ORC1%20transcript.pdf
PUBMEDCENTRAL : PMC5013992

Éditeur(s) : HAL CCSD Wiley/Blackwell
Résumé : International audience
Microsatellites are widely used in population genetics to uncover recent evolutionary events. They are typically genotyped using capillary sequencer, which capacity is usually limited to 9, at most 12 loci for each run, and which analysis is a tedious task that is performed by hand. With the rise of next-generation sequencing (NGS), a much larger number of loci and individuals are available from sequencing: for example, on a single run of a GS Junior, 28 loci from 96 individuals are sequenced with a 30X cover. We have developed an algorithm to automatically and efficiently genotype microsatellites from a collection of reads sorted by individual (e.g. specific PCR amplifications of a locus or a collection of reads that encompass a locus of interest). As the sequencing and the PCR amplification introduce artefactual insertions or deletions, the set of reads from a single microsatellite allele shows several length variants. The algorithm infers, without alignment, the true unknown allele(s) of each individual from the observed distributions of microsatellites length of all individuals. MicNeSs, a python implementation of the algorithm, can be used to genotype any microsatellite locus from any organism and has been tested on 454 pyrosequencing data of several loci from fruit flies (a model species) and red deers (a nonmodel species). Without any parallelization, it automatically genotypes 22 loci from 441 individuals in 11 hours on a standard computer. The comparison of MicNeSs inferences to the standard method shows an excellent agreement, with some differences illustrating the pros and cons of both methods.
ISSN: 1755-098X

hal-01544754
https://hal.archives-ouvertes.fr/hal-01544754
DOI : 10.1111/1755-0998.12467

Éditeur(s) : HAL CCSD European Respiratory Society
Résumé : International audience
Telomerase reverse transcriptase (TERT) or telomerase RNA (TERC) gene mutation is a major monogenic cause of pulmonary fibrosis. Sequencing of TERT/TERC genes is proposed to patients with familial pulmonary fibrosis. Little is known about the possible predictors of this mutation and its impact on prognosis. We retrospectively analysed all the genetic diagnoses made between 2007-2014 in patients with pulmonary fibrosis. We evaluated the prevalence of TERT/TERC disease-Associated variant (DAV), factors associated with a DAV, and the impact of the DAV on survival. 237 patients with pulmonary fibrosis (153 with familial pulmonary fibrosis, 84 with telomere syndrome features without familial pulmonary fibrosis) were tested for TERT/TERC DAV. DAV was diagnosed in 40 patients (16.8%), including five with non-idiopathic interstitial pneumonia. Prevalence of TERT/TERC DAV did not significantly differ between patients with familial pulmonary fibrosis or with only telomere syndrome features (18.2% versus 16.4%). Young age, red blood cell macrocytosis, and low platelet count were associated with the presence of DAV; the probability of DAV was increased for patients 40-60 years. Transplant-free survival was lower with than without TERT/TERC DAV (4.2 versus 7.2 years; p=0.046). TERT/TERC DAV were associated with specific clinical and biological features and reduced transplantfree survival. ©ERS 2016.
ISSN: 0903-1936

hal-01467555
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01467555
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01467555/document
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01467555/file/Prevalence%20and%20characteristics%20of%20TERT.pdf
DOI : 10.1183/13993003.02115-2015

Éditeur(s) : HAL CCSD
Résumé : Le régime de reproduction de Dicorynia guianensis (caesalpiniaceae), arbre de la forêt guyanaise a été étudié à l'aide des marqueurs enzymatiques. Le matériel végétal a été collecté en 1993 et 1995, sur le dispositif sylvicole de Paracou. Le taux d'allofécondation moyen de la population est élevé, tm = 0,85, stable d'une année à l'autre malgré une variation importante du taux de floraison. Le taux individuel varie entre les arbres mais aucune corrélation n'a pu être établie avec des facteurs spatiaux, densité de floraison ou distance aux plus proches voisins. L'hétérogénéité des nuages polliniques est sensible au niveau des agrégats et des arbres individuels, échelle spatiale où se déploie l'activité des insectes pollinisateurs. Nous n'avons en évidence aucune corrélation spatiale entre compositions des nuages polliniques individuels. Des distances de migration du pollen de 190 mètres ont été mise en évidence grâce aux allèles rares. Aucune différence significative du régime de reproduction de D. guianensis n'a été trouvée entre parcelles traitées et parcelles témoin du dispositif.
Colloque BRG/USTL. Méthodologie de gestion et de conservation des ressources génétiques
Lille, France

hal-01032382
https://hal.archives-ouvertes.fr/hal-01032382

Éditeur(s) : HAL CCSD SAGE Publications (UK and US)
Résumé : International audience
In the literature, the enamelin gene ENAM has been repeatedly designated as a possible candidate for caries susceptibility. Here, we checked whether ENAM variants could increase caries susceptibility. To this aim, we sequenced coding exons and exon-intron boundaries of ENAM in 250 children with a severe caries phenotype and in 149 caries-free patients from 9 French hospital groups. In total, 23 single-nucleotide polymorphisms (SNPs) were found, but none appeared to be responsible for a direct change of ENAM function. Six SNPs had a high minor allele frequency (MAF) and 6 others were identified for the first time. Statistical and evolutionary analyses showed that none of these SNPs was associated with caries susceptibility or caries protection when studied separately and challenged with environmental factors. However, haplotype interaction analysis showed that the presence, in a same variant, of 2 exonic SNPs (rs7671281 and rs3796704; MAF 0.12 and 0.10, respectively), both changing an amino acid in the protein region encoded by exon 10 (p.I648T and p.R763Q, respectively), increased caries susceptibility 2.66-fold independent of the environmental risk factors. These findings support ENAM as a gene candidate for caries susceptibility in the studied population.
ISSN: 0022-0345

hal-01545476
https://hal.archives-ouvertes.fr/hal-01545476
DOI : 10.1177/0022034514522060