Éditeur(s) : HAL CCSD SpringerLink
Résumé : Trinucleotide microsatellites have proven to be the markers of choice in human genetic analysis because they are easier to genotype than dinucleotides. Their development can be more time-consuming due to their lower abundance in the genome. We isolated trinucleotide microsatellites in Norway spruce (Picea abies K.) using an enrichment procedure for the genomic-library construction. Here we report on the characterisation of 85 ATC microsatellite-containing clones, from which 39 markers were developed. Many of the clones showed the occurrence of tandem repeats of higher order than the trinucleotide ones, often resembling minisatellite repeats. The sequencing of a sample of the alleles at one of the loci revealed size homoplasy due to base substitutions within the microsatellite region. The presence of ATC motifs within repetitive sequence families was observed. We found a significant relationship between the level of polymorphism and the length of the microsatellite. The levels of variability for ATC trinucleotide markers were lower than those for dinucleotides, both when tested on all loci in a set of six individuals and on a subset of loci in four natural populations. This difference is most likely attributable to lower mutation rates for trinucleotide than for dinucleotide loci. The availability of markers with different mutation rates allows one to select the proper marker set to investigate population processes on different time scales.
Theoretical and Applied Genetics

hal-01032029
https://hal.archives-ouvertes.fr/hal-01032029
DOI : 10.1007/s00122-002-0986-1

Éditeur(s) : HAL CCSD Public Library of Science
Résumé : Background. In wild plant populations, genetic divergence within continuous stands is common, sometimes at very short geographical scales. While restrictions to gene flow combined with local inbreeding and genetic drift may cause neutral differentiation among subpopulations, microgeographical variations in environmental conditions can drive adaptive divergence through natural selection at some targeted loci. Such phenomena have recurrently been observed in plant populations occurring across sharp environmental boundaries, but the interplay between selective processes and neutral genetic divergence has seldom been studied.[br/]Methods. We assessed the extent of within-stand neutral and environmentally-driven divergence in the Neotropical tree [i]Eperua falcate Aubl[/i]. (Fabaceae) through a genome-scan approach. Populations of this species grow in dense stands that cross the boundaries between starkly contrasting habitats. Within-stand phenotypic and candidate-gene divergence have already been proven, making this species a suitable model for the study of genome-wide microgeographic divergence. Thirty trees from each of two habitats (seasonally flooded swamps and well-drained plateaus) in two separate populations were genotyped using thousands of AFLPs markers. To avoid genotyping errors and increase marker reliability, each sample was genotyped twice and submitted to a rigorous procedure for data cleaning, which resulted in 1196 reliable and reproducible markers.[br/]Results. Despite the short spatial distances, we detected within-populations genetic divergence, probably caused by neutral processes, such as restrictions in gene flow. Moreover, habitat-structured subpopulations belonging to otherwise continuous stands also diverge in relation to environmental variability and habitat patchiness: we detected convincing evidence of divergent selection at the genome-wide level and for a fraction of the analyzed loci (comprised between 0.25% and 1.6%). Simulations showed that the levels of differentiation for these outliers are compatible with scenarios of strong divergent selection
ISSN: 1932-6203

hal-01204220
https://hal.archives-ouvertes.fr/hal-01204220
https://hal.archives-ouvertes.fr/hal-01204220/document
https://hal.archives-ouvertes.fr/hal-01204220/file/journal.pone.0121394.PDF
PRODINRA : 287494

Éditeur(s) : HAL CCSD
Résumé :  
The spatial genetic differentiation among European beech stands in western Germany was analysed by a new method. The genetic structure at 8 enzyme gene loci of 100 sampled populations was used as data base. The data represent authors' own results and published data from 8 different studies. For 10 geographic distance classes [h] from 0 to 500 km, the average genetic distance between the populations for each single gene locus, a gene-pool distance and the semivariances of genetic diversity gam were computed. Significant deviation from random spatial genetic structure was tested by permutation analysis. In many cases (Lap-B, Mdh-B, Mdh-C and 6Pgdh-C) the mean genetic distance between stands with spatial distance up to 200 km was significantly smaller and the genetic distance between stands with geographic distances of 200 and 400 km was significantly greater than expected for random spatial genetic structure. Similar tendencies were found for the gene-pool distance and the semivariances of diversity. Kriging, as a method for spatial interpolation, was used to draw synthetic maps of the spatial patterns of allelic frequencies and genetic diversity. The influence of postglacial recolonisation and regeneration with foreign seed material on the spatial genetic patterns are discussed
Forest genetics

hal-01032093
https://hal.archives-ouvertes.fr/hal-01032093

Éditeur(s) : HAL CCSD Public Library of Science
Résumé : International audience
BACKGROUND: Deletions of the glutathione S-transferase genes M1 and T1 (GSTM1 and GSTT1) have been studied as potential risk factors for prostate cancer. Conflicting results have been obtained. Moreover, most such studies could not discriminate heterozygous from homozygous carriers of the non-deleted alleles. OBJECTIVE: We investigated whether copy number variation (CNV) of the GSTM1 and/or GSTT1 genes contribute to the risk of prostate cancer in the Caribbean population of African descent of Guadeloupe. METHODS: In a population-based case-control study, we compared 629 prostate cancer patients and 622 control subjects. Logistic regression was used to estimate adjusted odds ratios (OR) and 95% confidence intervals (CI). Exact copy numbers of GSTM1 and GSTT1 were determined by real-time PCR. RESULTS: A higher copy number of GSTM1 was marginally associated with prostate cancer risk. Men with 2 and 3 or more GSTT1 genes were at higher risk of prostate cancer (OR: 1.55, 95% CI: 1.11-2.16 and OR: 4.89, 95% CI: 1.71-13.99, respectively; Ptrend extless0.001). Men with 3, 4 and 5 or more copies of both GSTM1 and GSTT1 genes were at higher risk of prostate cancer (OR: 2.18, 95% CI: 1.21-3.91, OR: 3.24, 95% CI: 1.63-6.46, and OR: 5.77, 95% CI: 1.40-23.84, respectively; Ptrend extless0.001). CONCLUSIONS: Copy number of GSTT1 and combined GSTM1/GSTT1 appear to be associated with prostate cancer risk in our population study with gene dose relationship. Our results support the hypothesis that variations in copy number of GSTT1 modulate the risk of prostate cancer.
ISSN: 1932-6203

hal-01063905
https://hal.archives-ouvertes.fr/hal-01063905
DOI : 10.1371/journal.pone.0107275
PUBMED : 25198353

Éditeur(s) : Elsevier
Résumé : injection of non-specific dsRNA initiates a broad-spectrum innate antiviral immune response in the Pacific white shrimp, Litopenaeus vannamei, however, the receptor involved in recognition of this by-product of viral infections remains unknown. In vertebrates, dsRNA sensing is mediated by a class of Toll-like receptors (TLRs) and results in activation of the interferon system. Because a TLR (lToll) was recently characterized in L. vannamei, we investigated its potential role in dsRNA recognition. We showed that injection of non-specific RNA duplexes did not modify lToll gene expression. A reverse genetic approach was therefore implemented to study its role in vivo. Silencing of lToll did not impair the ability of nonspecific dsRNA to trigger protection from white spot syndrome virus and did not increase the shrimp susceptibility to viral infection, when compared to controls. In contrast, gene-specific dsRNA injected to specifically silence lToll expression activated an antiviral response. These data strongly suggest that shrimp lToll plays no role in dsRNA-induced antiviral immunity. (C) 2009 Elsevier Ltd. All rights reserved.
Developmental & Comparative Immunology (0145-305X) (Elsevier), 2009-07 , Vol. 33 , N. 7 , P. 806-810

Droits : 2009 Elsevier Ltd All rights reserved.
http://archimer.ifremer.fr/doc/2009/publication-6428.pdf
DOI:10.1016/j.dci.2009.02.005
http://archimer.ifremer.fr/doc/00000/6428/

Éditeur(s) : HAL CCSD Nature Publishing Group
Résumé : International audience
Genetic recombination occurs during meiosis, the key developmental programme of gametogenesis. Recombination in mammals has been recently linked to the activity of a histone H3 methyltransferase, PR domain containing 9 (PRDM9), the product of the only known speciation-associated gene in mammals. PRDM9 is thought to determine the preferred recombination sites--recombination hotspots--through sequence-specific binding of its highly polymorphic multi-Zn-finger domain. Nevertheless, Prdm9 knockout mice are proficient at initiating recombination. Here we map and analyse the genome-wide distribution of recombination initiation sites in Prdm9 knockout mice and in two mouse strains with different Prdm9 alleles and their F(1) hybrid. We show that PRDM9 determines the positions of practically all hotspots in the mouse genome, with the exception of the pseudo-autosomal region (PAR)--the only area of the genome that undergoes recombination in 100% of cells. Surprisingly, hotspots are still observed in Prdm9 knockout mice, and as in wild type, these hotspots are found at H3 lysine 4 (H3K4) trimethylation marks. However, in the absence of PRDM9, most recombination is initiated at promoters and at other sites of PRDM9-independent H3K4 trimethylation. Such sites are rarely targeted in wild-type mice, indicating an unexpected role of the PRDM9 protein in sequestering the recombination machinery away from gene-promoter regions and other functional genomic elements.
ISSN: 0028-0836

hal-00877666
https://hal.archives-ouvertes.fr/hal-00877666
DOI : 10.1038/nature11089
PUBMED : 22660327

Éditeur(s) : HAL CCSD Elsevier
Résumé : International audience
Here we show that copper substitution in perovskite-type barium strontium cobalt copper oxide (BSCC) membranes confers extremely high oxygen fluxes well beyond the state of art, reaching 27.5 ml cm−2 min−1at 950 °C. A key feature of BSCC is the formation of a mixed matrix catalyst-perovskite membrane caused by the segregation of copper, leading to the formation of an intergranular network of copper-rich oxide between perovskite grains. BSCC membranes delivered pressure normalised oxygen flux (i.e. permeance) of up to 86 times higher, above pressure difference of 18 kPa, as compared to best perovskite membrane, BBSC, due to the catalytic effect of segregated copper oxide. Unlike conventional dual-phase membranes which contain ion and electron conducting phases, this work shows for the first time perovskite-type membranes consisting of a mixed matrix of oxygen ion/electron conducting (perovskite) and catalytic (copper oxide) phases, thus paving the way to the development of high performance membranes for oxygen separation from air for clean energy applications. © 2016 Elsevier B.V.
ISSN: 0376-7388

hal-01683219
https://hal.univ-antilles.fr/hal-01683219
DOI : 10.1016/j.memsci.2016.12.035

Éditeur(s) : HAL CCSD Elsevier Masson
Résumé : National audience
La détection d’Aspergillus dans le liquide bronchiolo-alvéolaire (LBA) est un des critères du diagnostic probable ou prouvé de l’aspergillose invasive (AI). Parallèlement à l’examen mycologique (ED et/ou culture) et à la détection de l’antigène galactomannane (GM) identifiés comme critères EORTC/MSG du diagnostic d’AI probable (de Pauw 2008), la PCR sur prélèvements pulmonaires est devenue un argument majeur du diagnostic de routine. Plusieurs méthodes d’amplification ont été publiées et l’objectif de ce travail était d’évaluer les performances de 2 cibles d’amplification : le gène mitochondrial d’A. fumigatus (AFmito) et l’ARN ribosomal 28S. Entre 01/2012 et 10/2015, 324 LBA ont été prospectivement collectés et analysés sur le plan mycologique (ED et culture) et ont bénéficié d’une détermination du GM (EIA Platelia assay Biorad, seuil à 1,0 si mesure isolée dans le LBA, ou 0,8 si associée à une mesure dans le sérum > 0,5) et d’une PCR AFmito. Puis rétrospectivement, un test PCR 28S a été effectué sur les ADN extraits disponibles (312/324). Selon les critères EORTC/MSG modifiés de 2008, les patients testés étaient classés comme suit : 1 AI prouvée, 47 AI probables et 11 AI possibles. Les autres patients étaient considérés comme 11 colonisés, et 256 non infectés. Les sensibilités du GM dans le LBA, de la PCR 28S et de la PCR AFmito étaient de 58 %, 61 % et 50 %, respectivement. La sensibilité de l’examen mycologique (ED ± culture) était de 33 %. La spécificité du GM dans le LBA, des PCR 28S et AFmito PCR et de la culture étaient de 94 %, 97 %, 97 % et 98 %, respectivement. Les valeurs prédictives négatives étaient de 93 %, 95 %, 92 % et 89 %, respectivement. La concordance entre les 2 PCR était de 97 % (cœfficient kappa 0,84), alors qu’elle était de 88 % (kappa 0,40) entre la PCR 28S et le GM dans le LBA, et de 88 % (kappa 0,43) entre la PCR AFmito PCR et le GM dans le LBA. En conclusion, la PCR 28S a présenté la meilleure performance pour la détection moléculaire d’Aspergillus dans le LBA comparativement à la PCR AFmito. La combinaison de la PCR 28S et de la détection du GM dans le LBA permet d’atteindre une sensibilité de 80 % tout en conservant une excellente spécificité (91 %)
ISSN: 1156-5233

hal-01334068
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01334068
DOI : 10.1016/j.mycmed.2016.04.048

Éditeur(s) : HAL CCSD Elsevier
Résumé : International audience
Mitochondrial DNA integrity is ensured by several nuclear-encoded proteins in vertebrates, and a number of mtDNA alterations in human diseases, including deletions and duplications, have been suspected to result from errors in the mitochondrial recombination pathway. However, the presence of the latter system is still a matter of controversy as RecA proteins display various functions in vitro. In Escherichia coli, RecA plays a central role in homologous recombination by pairing and transferring a single strand to a homologous duplex DNA. To address indirectly the issue of a mitochondrial recombination pathway in vivo, we have constructed a chimeric gene containing an N terminal mitochondrial targeting sequence and the E. coli RecA gene. Cells were transfected by the recombinant plasmid, then tested for their mtDNA repair upon bleomycin treatment. We found an increased repair rate of the mitochondrial DNA in cells expressing RecA as compared to control cells. These results indicate that the transfected cells display an improved mtDNA repair replication pathway due to the exogenous RecA, likely in synergy with an endogenous rate-limiting mitochondrial recombination pathway.
ISSN: 0027-5107

hal-01680533
https://hal.univ-antilles.fr/hal-01680533
PUBMED : 11356332

Éditeur(s) : HAL CCSD Oxford University Press (OUP)
Résumé : International audience
Prostate cancer disparities have been reported in men of African descent who show the highest incidence, mortality, compared with other ethnic groups. Few studies have explored the genetic and environmental factors for prostate cancer in men of African ancestry. The glutathione-S-transferases family conjugates carcinogens before their excretion and is expressed in prostate tissue. This study addressed the role of GSTM1 and GSTT1 deletions on prostate cancer risk in populations of African descent. This multi-institutional case-control study gathered data from the Genetic Susceptibility to Environmental Carcinogens (GSEC) database, the African-Caribbean Cancer Consortium (AC3) and Men of African Descent and Carcinoma of the Prostate Consortium (MADCaP). The analysis included 10 studies (1715 cases and 2363 controls), five in African-Americans, three in African-Caribbean and two in African men. Both the GSTM1 and the GSTT1 deletions showed significant inverse associations with prostate cancer [odds ratio (OR): 0.90, 95% confidence interval (CI) 0.83-0.97 and OR 0.88, 95% CI: 0.82-0.96, respectively]. The association was restricted to Caribbean and African populations. A significant positive association was observed between GSTM1 deletion and prostate cancer in smokers in African-American studies (OR: 1.28, 95% CI: 1.01-1.56), whereas a reduced risk was observed in never-smokers (OR: 0.66, 95% CI: 0.46-0.95). The risk of prostate cancer increased across quartiles of pack-years among subjects carrying the deletion of GSTM1 but not among subjects carrying a functional GSTM1. Gene-environment interaction between smoking and GSTM1 may be involved in the etiology of prostate cancer in populations of African descent.
ISSN: 0143-3334

hal-00682901
https://hal.archives-ouvertes.fr/hal-00682901
DOI : 10.1093/carcin/bgr119
PUBMED : 21705483

Éditeur(s) : HAL CCSD Frontiers
Résumé : International audience
Important set of studies have demonstrated the endocrine disrupting activity of Bisphenol A (BPA). The present work aimed at defining estrogenic-like activity of several BPA structural analogs, including BPS, BPF, BPAF, and BPAP, on 4- or 7-day post-fertilization (dpf) zebrafish larva as an in vivo model. We measured the induction level of the estrogen-sensitive marker cyp19a1b gene (Aromatase B), expressed in the brain, using three different in situ/in vivo strategies: (1) Quantification of cyp19a1b transcripts using RT-qPCR in wild type 7-dpf larva brains exposed to bisphenols; (2) Detection and distribution of cyp19a1b transcripts using in situ hybridization on 7-dpf brain sections (hypothalamus); and (3) Quantification of the cyp19a1b promoter activity in live cyp19a1b-GFP transgenic zebrafish (EASZY assay) at 4-dpf larval stage. These three different experimental approaches demonstrated that BPS, BPF, or BPAF exposure, similarly to BPA, significantly activates the expression of the estrogenic marker in the brain of developing zebrafish. In vitro experiments using both reporter gene assay in a glial cell context and competitive ligand binding assays strongly suggested that up-regulation of cyp19a1b is largely mediated by the zebrafish estrogen nuclear receptor alpha (zfERα). Importantly, and in contrast to other tested bisphenol A analogs, the bisphenol AP (BPAP) did not show estrogenic activity in our model
ISSN: 1662-4548

hal-01299976
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01299976
PUBMED : 27047331
DOI : 10.3389/fnins.2016.00112
PUBMEDCENTRAL : PMC4805609

Éditeur(s) : HAL CCSD Oxford University Press (OUP)
Résumé : International audience
About 1-6% of the genetic ancestry of modern humans today originates from admixture with archaic humans. It has recently been shown that autosomal genomic regions with a reduced proportion of Neanderthal and Denisovan ancestries (NA and DA) are significantly enriched in genes that are more expressed in testis than in other tissues. To determine whether a cellular segregation pattern would exist, we combined maps of archaic introgression with a cross-analysis of three transcriptomic datasets deciphering the transcriptional landscape of human gonadal cell types. We reveal that the regions deficient in both NA and DA contain a significant enrichment of genes transcribed in meiotic germ cells. The interbreeding of anatomically modern humans with archaic humans may have introduced archaic-derived alleles that contributed to genetic incompatibilities affecting meiosis that were subsequently purged by natural selection.
ISSN: 0737-4038

hal-01578587
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01578587
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01578587/document
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01578587/file/J%C3%A9gou%20et%20al%20-%20Meiotic%20Genes%20Are%20Enriched.pdf
DOI : 10.1093/molbev/msx141

Éditeur(s) : HAL CCSD Wiley-Blackwell
Résumé : International audience
Heterocyclic aromatic amines (HAA) are formed in cooked meat, poultry and fish but also arise in tobacco smoke and exhaust gases. HAA are potential human carcinogens, which require metabolic activation to exert their genotoxicity. Human tissues can bioactivate HAA to produce reactive intermediates that bind to DNA. HAA DNA adduct formation occurs in human hepatocytes; however, the potential of HAA to form DNA adducts has not been investigated in human T lymphocytes. In this study, we investigated the ability of human T lymphocytes activated with PMA/Ionomycin or CD3/CD28 to express functional CYP1 activity and bioactivate three major HAA: 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine (PhIP), 2-amino-3,8-dimethylimidazo[4,5-f]quinoxaline (MeIQx), and 2-amino-9H-pyrido[2,3-b]indole (AαC) to form DNA adducts. Adducts were measured by ultraperformance liquid chromatography-electrospray ionization/multistage scan mass spectrometry. The highest level of DNA adducts occurred for AαC (16 adducts per 109 nucleotides), followed by PhIP (9 adducts per 109 nucleotides). In contrast, DNA adducts formed from MeIQx and the structurally related aromatic amine 4-aminobiphenyl, a known human carcinogen, were below the limit of detection (< 3 adducts per 109 nucleotides). Moreover, we demonstrate that AαC is a potent inducer of CYP1A1 and CYP1B1 activity through a transcriptional mechanism involving the AhR pathway. Overall, our results highlight the capacity of activated human T lymphocytes to more efficiently bioactivate AαC to form DNA adducts than other prominent HAA or 4-ABP. Environ. Mol. Mutagen. 57:656-667, 2016.
ISSN: 0893-6692

hal-01400486
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01400486
DOI : 10.1002/em.22059
PUBMED : 27801952

Éditeur(s) : HAL CCSD
Résumé : Due to their phylogenetic position outside from Bilateria, cnidarians and ctenophores are key phyla to understanding the origin and early evolution of molecular mechanisms, cell types, or body plan features at the level of Metazoa. Unlike other non-bilaterian phyla (sponges and placozoans), they possess neurons and muscle cells. The first part of my work relates to the problem of the origin of the metazoan nervous system. Recent studies have suggested a dual origin for nerve cells, with ctenophore neurons having emerged independently from those of cnidarians and bilaterians. This hypothesis relies on phylogenomic analyses supporting ctenophores as sister-group to all other metazoans, and on the purported absence in ctenophores of almost all well-known neuro-transmission systems, including the cholinergic system. Refuting this claim, I present substantial evidence in favour of acetylcholine (Ach) being used in the ctenophore Pleurobrachia pileus as an extra-cellular messenger, including within the nervous system. This conclusion arises from the conjunction of multiple approaches at the molecular scale (orthology analyses, Ach immuno-localisation, gene in situ hybridisation), at the cellular scale (calcium imaging on muscle cells exposed to Ach) and at the organism scale (pharmacological treatments with an Ach analogue and Ach antagonists). In the second part of my thesis, I address the conservation of molecular mechanisms involved in the control of cellular proliferation. Notably, the Hippo pathway is known for its role in bilaterians in the negative control of cellular proliferation. I show that components of this pathway are conserved in Pleurobrachia pileus and in Clytia hemisphaerica and that the nuclear vs. cytoplasmic localisation of the transcriptional co-factor Yorkie is correlated to the extent of proliferation within C. hemisphaerica tissues. Finally, RNAseq differential gene expression analyses along a cellular conveyor belt of the C. hemisphaerica medusa suggests a tendency for conservation of function among a set of genes whose mammalian orthologues have documented roles in the arrest of cellular proliferation.
Les Cnidaires et les Cténaires sont deux embranchements extérieurs aux Bilatériens qui, de par leur position phylogénétique, constituent des modèles d'étude cruciaux pour comprendre l'origine et l'évolution de mécanismes moléculaires ou encore de types cellulaires à grande échelle chez les Métazoaires. Ils sont les deux seuls embranchements non-Bilatériens à posséder des cellules nerveuses ainsi que des cellules musculaires. La première partie de mon travail de thèse s'inscrit dans le contexte de la compréhension de l'origine du système nerveux des Métazoaires. Des études récentes suggèrent une origine double du système nerveux ; ainsi celui des Cténaires aurait été acquis de manière convergente par rapport à celui des Cnidaires et des Bilatériens. Cela repose sur des données récentes de phylogénomique proposant les Cténaires en tant que groupe-frère de tous les autres Métazoaires et sur l'absence supposée chez les Cténaires de quasiment tous les systèmes de neurotransmission connus y compris le système cholinergique. A l'encontre de ces hypothèses, j'ai pu mettre en évidence l'existence d'un système cholinergique chez le Cténaire Pleurobrachia pileus ainsi que son étroite association avec le système nerveux. Cette conclusion repose sur une multiplicité d'approches à l'échelle moléculaire (analyses d'orthologie, immunolocalisation, hybridations in situ), cellulaire (imagerie calcique) et de l'organisme (approche pharmacologique). Dans la seconde partie de ma thèse, j'aborde la question de la conservation des mécanismes moléculaires impliqués dans le contrôle de la prolifération cellulaire à l'échelle des Métazoaires. J'ai pu mettre en évidence la conservation des acteurs.
https://tel.archives-ouvertes.fr/tel-01633223

NNT : 2015PA066629
tel-01633223
https://tel.archives-ouvertes.fr/tel-01633223
https://tel.archives-ouvertes.fr/tel-01633223v2/document
https://tel.archives-ouvertes.fr/tel-01633223/file/2015PA066629.pdf

Éditeur(s) : HAL CCSD Society for Molecular Biology and Evolution
Résumé : International audience
Microsatellites (SSRs) are highly susceptible to expansions and contractions. When located in a coding sequence, the insertion or the deletion of a single unit for a mono-, di-, tetra-, or penta(nucleotide)-SSR creates a frameshift. As a consequence, one would expect to find only very few of these SSRs in coding sequences because of their strong deleterious potential. Unexpectedly, genomes contain many coding SSRs of all types. Here, we report on a study of their evolution in a phylogenetic context using the genomes of four primates: human, chimpanzee, orangutan, and macaque. In a set of 5,015 orthologous genes unambiguously aligned among the four species, we show that, except for tri- and hexa-SSRs, for which insertions and deletions are frequently observed, SSRs in coding regions evolve mainly by substitutions. We show that the rate of substitution in all types of coding SSRs is typically two times higher than in the rest of coding sequences. Additionally, we observe that although numerous coding SSRs are created and lost by substitutions in the lineages, their numbers remain constant. This last observation suggests that the coding SSRs have reached equilibrium. We hypothesize that this equilibrium involves a combination of mutation, drift, and selection. We thus estimated the fitness cost of mono-SSRs and show that it increases with the number of units. We finally show that the cost of coding mono-SSRs greatly varies from function to function, suggesting that the strength of the selection that acts against them can be correlated to gene functions.
ISSN: 1759-6653

hal-01544762
https://hal.archives-ouvertes.fr/hal-01544762
DOI : 10.1093/gbe/evt003

Éditeur(s) : HAL CCSD Elsevier
Résumé : International audience
BACKGROUND & AIMS: Nutrients influence non-alcoholic fatty liver disease. Essential fatty acids deficiency promotes various syndromes, including hepatic steatosis, through increased de novo lipogenesis. The mechanisms underlying such increased lipogenic response remain unidentified. METHODS: We used wild type mice and mice lacking Liver X Receptors to perform a nutrigenomic study that aimed at examining the role of these transcription factors. RESULTS: We showed that, in the absence of Liver X Receptors, essential fatty acids deficiency does not promote steatosis. Consistent with this, Liver X Receptors are required for the elevated expression of genes involved in lipogenesis in response to essential fatty acids deficiency. CONCLUSIONS: This work identifies, for the first time, the central role of Liver X Receptors in steatosis induced by essential fatty acids deficiency.
ISSN: 0168-8278

inserm-00872314
http://www.hal.inserm.fr/inserm-00872314
DOI : 10.1016/j.jhep.2013.01.006
PUBMED : 23333450

Éditeur(s) : HAL CCSD Public Library of Science
Résumé : International audience
The scleractinian coral Pocillopora damicornis type β is known to present a mixed reproduction mode: through sexual reproduction, new genotypes are created, while asexual reproduction insures their propagation. In order to investigate the relative proportion of each reproduction mode in P. damicornis type β populations from Reunion Island, Indian Ocean, clonal propagation along the west coast was assessed through four sampling sites with increasing geographical distance between sites. Coral colonies were sampled either exhaustively, randomly or haphazardly within each site, and genotypic diversity was assessed using 13 microsatellite loci over a total of 510 P. damicornis type β determined a posteriori from their mtDNA haplotype (a 840 bp sequenced fragment of the Open Reading Frame). Overall, 47% of all the sampled colonies presented the same multi-locus genotype (MLG), a superclone, suggesting that asexual propagation is extremely important in Reunion Island. Within each site, numerous MLGs were shared by several colonies, suggesting local clonal propagation through fragmentation. Moreover, some of these MLGs were found to be shared among several sites located 40 km apart. While asexual reproduction by fragmentation seems unlikely over long distances, our results suggest a production of parthenogenetic larvae. Despite shared MLGs, two differentiated clusters were enclosed among populations of the west coast of Reunion Island, revealing the necessity to set up appropriate managing strategies at a local scale.
ISSN: 1932-6203

hal-01450078
http://hal.univ-reunion.fr/hal-01450078
DOI : 10.1371/journal.pone.0169692

Résumé : La drépanocytose est une hémoglobinopathie aux formes et aux sévérités cliniques très hétérogènes qui affectent de nombreux organes chez les patients touchés. Pour cette raison le terme de syndrome drépanocytaire majeur est généralement employé. Tous les syndromes drépanocytaires majeurs ont en commun une mutation ponctuelle du gène β-globine appelée mutation βs . Cette mutation βs conduit à la synthèse de la protéine d'hémoglobine S (HbS) caractérisée par sa capacité à polymériser dans sa forme désoxygénée. La polymérisation de l'HbS est l'élément déclencheur de la falciformation du globule rouge et conduit à de nombreuses altérations hématologiques et hémorhéologiques. Ces dernières sont à l'origine de troubles de l'hémodynamique, de l'oxygénation sanguine et de la perfusion tissulaire en oxygène. Il en résulte de nombreuses complications aigues (crise vaso-occlusive, accident vasculaire cérébral, syndrome thoracique aigu etc.) et/ou chroniques (glomérulopathie, ostéonécrose de la tête fémorale etc.) causés par un défaut d'oxygénation des tissus.
Sickle cell anemia is a hemoglobinopathy forms and severities very heterogeneous clinical affecting many organs in affected patients. For this reason the term major sickle cell syndrome is generally used. All major sickle cell syndromes have a common point mutation in the gene called β-globin mutation βs. This βs mutation leads to the synthesis of the protein hemoglobin S (HbS) is characterized by its ability to polymerize in its deoxygenated form. The polymerization of HbS is the trigger for the sickling of red blood cells and leads to many Hematological and hemorheological. These are at the origin of disorders hemodynamics, blood oxygenation and tissue perfusion with oxygen. This results in many acute complications (vaso-occlusive crisis, stroke, acute chest syndrome, etc..) And / or chronic (glomerulopathy, osteonecrosis of the femoral head etc.). Caused by a defect of tissue oxygenation.

http://www.theses.fr/2012AGUY0563/document

Éditeur(s) : HAL CCSD
Résumé : Volatile-rich, silica-undersaturated alkaline lavas record the important role of fluids during fluid-rock and magma-rock interactions in the mantle, which are key processes to understand the dynamics of the convective mantle and lithosphere-asthenosphere interactions in intracontinental settings. The aim of this thesis is to bring new constraints on the genesis of alkaline magmas by characterizing the crystallization conditions, the source and the partial melting processes taking part in the genesis of olivine nephelinites, pyroxene nephelinites and basanites from the Jbel Saghro volcanic field in the Moroccan Anti Atlas.The petrological and geochemical study of rocks and minerals coupled with the analysis of fluid inclusions constrains the pre-eruptive conditions of Saghro nephelinites to 1.7–2.2 GPa and ~1350 °C. Minerals show that nephelinitic magmas are rich in volatile elements (Cl, F, S), and fluid inclusions indicate that magmas were saturated with a CO2-rich fluid at pressures > 590 MPa. The various mineralogical assemblages and the presence of peridotite xenoliths suggest a rapid ascent for olivine nephelinites and more complex processes at depth for pyroxene nephelinites.Fractional crystallization and partial melting modelling of Saghro mafic lavas indicate that they are low-degree melts (0.6–2.5 %) of an amphibole-bearing carbonated peridotite enriched in incompatible elements, at the garnet-spinel transition (~80–85 km). Saghro nephelinites display a temporal evolution with a slight increase of the degree of melting and a decrease of the amount of residual amphibole from the oldest (olivine nephelinites, 9.6 Ma) to the most recent (pyroxene nephelinites, 2.9 Ma). Basanites form a system that is independent from nephelinites and are slightly higher-degree melts. Important variations in their chemical composition suggest variable amounts of fractional crystallization during ascent.The peculiar characteristics of Saghro nephelinites and basanites (enrichment in incompatible elements, negative anomalies in K, Zr, Hf and Ti, high Ca/Al and Zr/Hf ratios) indicate that their source was affected by carbonatitic metasomatism. The influence of this metasomatism is stronger for pyroxene nephelinites than for olivine nephelinites. These results suggest fluid-rock interactions beneath the Northwest African Craton, leading to the formation of a metasomatized mantle by CO2-rich carbonatitic components at the lithosphere-asthenosphere transition. The origin of the metasomatism inducing source enrichment and the formation of amphibole veins could be attributed to the melting of relict subducted oceanic lithosphere. The relatively low melting temperatures (< 1350 °C) suggest the absence of a thermal anomaly beneath the Jbel Saghro, and thus support a lithosphere delamination model as precursor of Saghro volca0,3nism. However, the increasing degree of partial melting over time, also observed in the Middle Atlas, together with the isotopic and geochemical similarities with Canary Islands alkaline lavas does not allow us to discard the influence of a deviation of the Canary mantle plume beneath northwest Africa.
Les laves alcalines sous-saturées riches en éléments volatils sont les marqueurs du rôle important des fluides dans le manteau et des interactions fluide-roche et magma-roche, processus clés pour comprendre la dynamique du manteau convectif et les interactions asthénosphère-lithosphère en domaine intracontinental. L’objectif de cette thèse est d’apporter de nouvelles contraintes sur la genèse des magmas alcalins en caractérisant les conditions de cristallisation, la source et les processus de fusion partielle à l’origine des néphélinites à olivine, des néphélinites à pyroxène et des basanites du champ volcanique du Jbel Saghro dans l’Anti-Atlas marocain.L’étude pétrologique et géochimique des roches et des minéraux, couplée à l’analyse des inclusions fluides a permis de contraindre les conditions pré-éruptives des néphélinites de Saghro à 1.7–2.2 GPa et ~1350 °C. Les minéraux montrent que les magmas néphélinitiques sont riches en éléments volatils (Cl, F, S), et les inclusions fluides indiquent que les magmas étaient saturés en fluide riche en CO2 à des pressions > 590 MPa. Les différents assemblages minéralogiques des néphélinites et la présence de xénolites péridotitiques suggèrent une ascension rapide des néphélinites à olivine et des processus plus complexes en profondeur pour les néphélinites à pyroxène.La modélisation des processus de cristallisation fractionnée et de fusion partielle des laves mafiques de Saghro a permis de déterminer qu’elles sont issues de faibles taux de fusion partielle (0.6–2.5 %) d’une péridotite carbonatée enrichie en éléments incompatibles, au niveau de la transition grenat–spinelle (~80–85 km) et en présence d’amphibole. Les néphélinites de Saghro montrent une évolution temporelle avec une légère augmentation du taux de fusion et une diminution de la quantité d’amphibole au résidu des plus anciennes (néphélinites à olivine, 9.6 Ma) aux plus récentes (néphélinites à pyroxène, 2.9 Ma). Les basanites forment un système indépendant des néphélinites et sont issues de taux de fusion plus élevés. Les fortes variations dans leur composition chimique suggèrent qu’elles ont subi de la cristallisation fractionnée lors de leur ascension.Les caractéristiques particulières des néphélinites et basanites de Saghro (enrichissement en éléments incompatibles, anomalies négatives en K, Zr, Hf et Ti, rapports Ca/Al et Zr/Hf élevés) indiquent que leur source a subi un métasomatisme principalement carbonatitique. L’influence de ce métasomatisme est plus forte pour les néphélinites à pyroxène que pour les néphélinites à olivine, impliquant une évolution temporelle de l’intensité du métasomatisme. Ces résultats suggèrent des interactions fluide-roche sous le craton Nord-Ouest Africain, entraînant la formation d'un manteau métasomatisé par des composants carbonatitiques riches en CO2 au niveau de la transition lithosphère-asthénosphère. L’origine du métasomatisme provoquant l’enrichissement de la source et la formation de veines d’amphibole pourrait être liée à la fusion de reliquats de croûte océanique subductée. Les températures de fusion relativement faibles (< 1350 °C) suggèrent l’absence d’anomalie thermique sous le Jbel Saghro, et favorisent donc un modèle de délamination de la lithosphère comme initiateur du volcanisme. Cependant, l’augmentation du taux de fusion partielle au cours du temps, également observée dans le Moyen Atlas, et les similitudes isotopiques et géochimiques avec les laves alcalines des îles Canaries ne permettent pas d’exclure une influence du panache des Canaries sur la source du volcanisme alcalin du Jbel Saghro.
https://tel.archives-ouvertes.fr/tel-01615888

NNT : 2015MONTS070
tel-01615888
https://tel.archives-ouvertes.fr/tel-01615888
https://tel.archives-ouvertes.fr/tel-01615888/document
https://tel.archives-ouvertes.fr/tel-01615888/file/53752_CHAMBOREDON_2015_archivage_cor.pdf

Éditeur(s) : HAL CCSD MDPI
Résumé : International audience
Marine ecosystems cover about 70% of the planet surface and are still an underexploited source of useful metabolites. Among microbes, filamentous fungi are captivating organisms used for the production of many chemical classes of secondary metabolites bound to be used in various fields of industrial application. The present study was focused on the collection, isolation, screening and genotyping of pigmented filamentous fungi isolated from tropical marine environments around La Réunion Island, Indian Ocean. About 150 micromycetes were revived and isolated from 14 marine samples (sediments, living corals, coral rubble, sea water and hard substrates) collected in four different locations. Forty-two colored fungal isolates belonging to 16 families, 25 genera and 31 species were further studied depending on their ability to produce pigments and thus subjected to molecular identification. From gene sequence analysis, the most frequently identified colored fungi belong to the widespread Penicillium, Talaromyces and Aspergillus genera in the family Trichocomaceae (11 species), then followed by the family Hypocreaceae (three species). This study demonstrates that marine biotopes in La Réunion Island, Indian Ocean, from coral reefs to underwater slopes of this volcanic island, shelter numerous species of micromycetes, from common or uncommon genera. This unstudied biodiversity comes along with the ability for some fungal marine inhabitants, to produce a range of pigments and hues.
ISSN: 2309-608X

hal-01657071
http://hal.univ-reunion.fr/hal-01657071
http://hal.univ-reunion.fr/hal-01657071/document
http://hal.univ-reunion.fr/hal-01657071/file/14-%20Fouillaud%20et%20al.%2C%20J.%20of%20Fungi%202017.pdf
DOI : 10.3390/jof3030036