Dissertationen zum Thema „Gènes liés à l'immunité“
Geben Sie eine Quelle nach APA, MLA, Chicago, Harvard und anderen Zitierweisen an
Machen Sie sich mit Top-36 Dissertationen für die Forschung zum Thema "Gènes liés à l'immunité" bekannt.
Neben jedem Werk im Literaturverzeichnis ist die Option "Zur Bibliographie hinzufügen" verfügbar. Nutzen Sie sie, wird Ihre bibliographische Angabe des gewählten Werkes nach der nötigen Zitierweise (APA, MLA, Harvard, Chicago, Vancouver usw.) automatisch gestaltet.
Sie können auch den vollen Text der wissenschaftlichen Publikation im PDF-Format herunterladen und eine Online-Annotation der Arbeit lesen, wenn die relevanten Parameter in den Metadaten verfügbar sind.
Sehen Sie die Dissertationen für verschiedene Spezialgebieten durch und erstellen Sie Ihre Bibliographie auf korrekte Weise.
Sukkar, Dani. „Role of Nosema cerenae and pesticides on the decline of bees : Studies using a multifactorial approach : “Tipping the scale of honeybee immune responses - The effect of pesticides on immune-stimulation mimicking Nosema spp.”“. Electronic Thesis or Diss., Université de Lorraine, 2023. http://www.theses.fr/2023LORR0086.
Der volle Inhalt der QuelleHoneybee are facing the global threat of colony collapse disorder (CCD) leading colony deaths and decline in their numbers affecting their environmental and agronomic contribution in pollination of plants and commercial crops in addition to honey production. Pesticide exposure may be of the main causes leading to CCD by weakening the immune system of honeybees and impairing their immune responses. Nosemosis diseases caused by Nosema spp. may have a significant contribution to CCD when bees are exposed to different pesticides simultaneously. Multiple risk factors are assessed in this study including the most used neonicotinoids worldwide, imidacloprid and amitraz which is the pesticide used directly in contact with honeybees to treat mite infection. Th effect of these pesticides is evaluated at the level of immune stimulation by zymosan A to mimic Nosema infection. The effect of pesticides on antimicrobial cells products, cellular responses and related genes' expression are demonstrated
Hoffmann, Thomas. „Association entre polymorphisme de gènes de l'immunité et évènements cliniques post-transplantation rénale“. Thesis, Tours, 2009. http://www.theses.fr/2009TOUR4011/document.
Der volle Inhalt der QuelleIn spite of the continuous progress in immunosuppressive therapy, a number of factors still interfere with the complete success of renal transplantation. Revealing some factors with impact on graft outcome may therefore have important consequences in clinical practice. In the work presented here, we studied 6 polymorphisms into immunity genes coding IL-12p40, PD-1, AIF-1, Lyp, TIM-1 and -3, and we assessed their association with several clinical events occurring after transplantation. We showed that the polymorphisms into IL-12p40, PD-1 and TIM-3 genes were associated with CMV infection, that the PD-1 gene polymorphism was associated with graft survival, and that the polymorphisms into AIF-1 and Lyp genes were associated with skin cancer and delayed graft function, respectively. These results suggest that it would be interesting to genetically stratify patients in order to better adapt treatments and patient care
Trudel, Pierre. „Clonage et caractérisation de gènes liés à l'activité ligninolytique chez Trametes versicolor“. Thèse, Université de Sherbrooke, 1988. http://hdl.handle.net/11143/11757.
Der volle Inhalt der QuelleBilluart, Pierre. „Localisation et identification de gènes impliqués dans les retards mentaux liés au chromosome X“. Paris 5, 1999. http://www.theses.fr/1999PA05CD02.
Der volle Inhalt der QuelleMaussion, Gilles. „Mécanismes moléculaires liés aux dérégulations de deux gènes, SLC25A12 et MARK1, associés aux troubles autistiques“. Paris 5, 2008. http://www.theses.fr/2008PA05T008.
Der volle Inhalt der QuelleAutism is a neuropsychiatric disorder diagnosed in the first years of childhood. SLC25A12 and MARK1 are genes associated to autism. I evidenced the overexpression of these genes in Brodmann Area 46 in autistic patients. SLC25A12 encodes a mitochondrial aspartate/giutamate transporter. MARK1 encodes a serine/threonine kinase regulating interactions between MAPs and microtubules. By modulating the expression of these genes, we observed modifications in the length of dendrites and in velocity of mitochondria. Variations in SLC25A12 expression modify structure of dendritic spines. Changes in MARK1 expression alter neuronal polarity. We found that CAMKIIA, RIM1 and BDNF gene expression levels are deregulated in autistic patients. These genes encode proteins involved in synaptic plasticity. In conclusion, transcriptional modifications of genes that are associated to autism induce dendritic abnormalities that consequently alter synaptic plasticity in sub-regions of central nervous system
Nguyen, Tan-Trung. „Identifier des gènes nucléaires liés au maintien de l’ADN mitochondrial chez le champignon filamenteux Podospora anserina“. Thesis, Paris 11, 2014. http://www.theses.fr/2014PA112014.
Der volle Inhalt der QuelleMitochondria play main role as adenosine triphosphate (ATP)-energy factories of the eukaryotic cells. To ensure energy production, mitochondrial DNA (mtDNA) maintenance is essential for all obligate-aerobe eukaryotic organisms. Large-scale mtDNA deletions are major causes of mitochondrial dysfunction in human diseases. Several nuclear genes implicated in mtDNA metabolism were identified and characterized in human. Nuclear-encoded factors and their activities required for mtDNA maintenance are, however largely unknown. Identification of these factors and discovery of their activities in simple model systems can contribute to the comprehension of mtDNA maintenance and of the mechanisms leading to mtDNA deletions in human. The filamentous fungus Podospora anserina is a useful model system for studying mtDNA maintenance. An S15 cytosolic ribosomal protein mutant in P. anserina, named AS1-4 mutant, shows a positive correlation with the accumulation of specific large mtDNA deletion (Δmt) at the time of death. Alteration of S15 protein might modify translation of transcripts encoding proteins related to mtDNA maintenance and indirectly cause Δmt accumulation. Polysome profiling (called translatome), a global approach giving genome-wide informations about modified transcripts on translation, was performed on AS1-4 mutant. From the data of this translatome, two candidate genes potentially related to mitochondrial DNA maintenance, the PaIML2 gene and PaYHM2 gene has been identified and functionally analyzed. The function of the PaYHM2 gene has been especially characterized in this project. This gene encodes a protein sharing 68% of identity with yeast Yhm2, a bi-functional protein as a mitochondrial carrier and as a protein with DNA-binding activity. I demonstrated that the PaYHM2 gene is essential for P. anserina, an obligate-aerobe organism and that the PaYHM2 protein localizes to mitochondria. Through mutagenesis approach, I showed that the transport function decides the essentiality of mitochondrial carrier PaYHM2 while the putative DNA binding activity of PaYHM2 protein is important for P. anserina. Furthermore, I found that the function of PaYHM2 probably participates in the cytosolic acetyl-CoA metabolism
Guarmit, Basma. „Identification de gènes liés à la carcinogénèse prostatique : comparaison de tissus humains tumoraux et non tumoraux“. Paris 11, 2010. http://www.theses.fr/2010PA11T075.
Der volle Inhalt der QuelleFernandez, Nadine. „Modulation de l'immunité antitumorale innée et acquise par transfert de gènes codant pour des immunomodulateurs ou par flt3 ligand“. Paris 11, 1998. http://www.theses.fr/1998PA11T052.
Der volle Inhalt der QuelleHirtzig, Thomas. „Recherche d'associations entre la progression vers le SIDA ou le Lupus Erythematosus et des polymorphismes de gènes humains impliqués dans l'immunité“. Paris 11, 2006. http://www.theses.fr/2006PA112271.
Der volle Inhalt der QuelleMarchand, Suzanne. „Recherche de marqueurs moléculaires liés aux gènes qui confèrent la résistance au charbon nu chez l'orge, Hordeum vulgare L“. Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape7/PQDD_0009/MQ41956.pdf.
Der volle Inhalt der QuelleDeruytter, Nathalie. „De nouveaux gènes de prédisposition au diabète auto-immun liés au complexe majeur d'histocompatibilité chez la souris Non Obese Diabetic (NOD)“. Paris 6, 2004. http://www.theses.fr/2004PA066088.
Der volle Inhalt der QuelleCarthagena, Laetitia. „Rôle des protéines de la famille TRIM dans l'immunité innée : étude de leur implication dans l'activité anti-rétrovirale des interférons“. Paris 7, 2008. http://www.theses.fr/2008PA077192.
Der volle Inhalt der QuelleTRIMSa is a restriction factor that interferes with retroviral infections in a species specific manner in primate cells. A particular case exists in owl monkey cells, which express a fusion protein between TRIM5 and cyclophilin A, TRIMCyp, interfering with HIV-1 infection. TRIMSα expression has been shown to be induced by IFN. We evaluated the implication of TRIMSα or TRIMCyp in IFN-induced anti-retroviral activities. We show that IFN enhances TRIMSa expression in human, African green monkey and macaque cells, as well as TRIMCyp expression in owl monkey cells. We show that IFN potentates restriction activity against N-MLV in human and African green monkey cells, and that TRIMSa is the mediator of this IFN-induced activity. IFN treatment of owl monkey cells induces a TRIMCyp-dependent enhancement of HIV-1 restriction, as well as a strain-tropism independent restriction of MLV independent of TRIMCyp expression. Our results indicate that TRIMSα and TRIMCyp are implicated in IFN-induced anti-retroviral responses in primate cells, and suggest the existence of an IFN-induced anti-MLV activity in owl monkey cells, which involves a factor that remains to be identified, We next examined whether the entire TRIM protein family was involved in innate immunity. We performed a systematic analysis of TRIM gene expression in human primary cells (lymphocytes, macrophages) in response to IFN. We found that 27 of the 72 human TRIM genes are either up or down-regulated after IFN treatment, and identified novel TRIM proteins that are up-regulated by ÎFN. Our results suggest the involvement of additional TRIM proteins in regulating host antiviral activities
Arista, Gautier. „Génomique comparative et fonctionnelle de familles de gènes liés au métabolisme secondaire de la vigne (Vitis vinifera) et de ses proches parents“. Thesis, Strasbourg, 2017. http://www.theses.fr/2017STRAJ010/document.
Der volle Inhalt der QuelleGrapevine (Vitis vinifera) has a particularly rich secondary metabolism, giving rise to a wide range of molecules, some of which are involved in defences against pathogens and others in the great diversity of aromas that make wines famous. Analysis of grapevine reference genome has shown a remarkable expansion of certain families of genes linked to secondary metabolism in comparison with the other plants. In this work, I have analysed gene families coding for cytochromes P450, some of them being involved in the production of aromas, genes coding for stilbene synthases (STS), endo-β-1,3-glucanases and NBS type resistance genes involved in grapevine defences. My thesis intends to propose hypothesis to explain the structural organisation of these families and therefore better understand why some of these families are amplified in the grapevine genome. Bioinformatic approaches have been used to study these different genes families. The cytochromes P450 and R genes of NBS type were manually annotated to improve the knowledge of these families of genes. The expression of endo-β-1,3-glucanases, STS and cytochromes P450 genes has been quantified using a large-scale transcriptomic approach. To this purpose, a tool has been developed during this thesis to estimate the level of genes expression from RNA- Seq data available in public databases. In the meantime, DNA resequencing data from 56 cultivars and grapevine species have been analysed to identify structural variations of CNV types within the genes with a NBS domain and the STS genes. These works showed that the amplification of the gene families of interest was not specific to the reference genome but occurred at the scale of the Vitis genus, but also to highlighted structural variations in different genomes. Regarding the STS genes, blocks of duplication and more conserved and expressed genes were identified. For the genes with NBS domain, a clustered organisation has been highlighted with some clusters varying more than others in the studied genotypes. These works contribute to a better knowledge of gene families for efficient and durable defence against pathogens and optimal aromas synthesis in grapevine. This knowledge will benefit to breeding programs currently in progress at INRA Colmar
Soler, Lucile. „Recherche in silico de gènes potentiellement liés au sexe sur le groupe de liaison LG3, chez le tilapia du Nil Oreochromis niloticus“. Thesis, Montpellier 2, 2012. http://www.theses.fr/2012MON20183/document.
Der volle Inhalt der QuelleTilapias (Oreochromis spp.) are the second most important fish group in aquaculture and a primary source of animal protein for millions of people in developing countries. Indeed, Tilapias have most of the qualities required in aquaculture such as a good growth-rate and resistance to diseases. Nevertheless, their early and constant reproduction leads to tank overpopulation and dwarfism of individuals. To overcome this, new sex controlling methods (genetics and temperature) are being studied to better understand the sex determination in tilapia. Sex determination in tilapia is complex since sex is influenced by major genetic factors (XX/XY), minor genetic factors (on an autosome: LG3, LG23) and temperature factors. Over the past years a great effort has been done to increase the genomic tools in tilapia by obtaining data on Bac End Sequences (BES), Expressed Sequence tags (EST), physical map, RH map.... The objective of our work is to identify, by in silico approaches, genes associated to sex, especially the ones located on the linkage group LG3. We divided our work in two steps. The first work is to collect heterogeneous and available information existing on tilapia using comparative genomic analyses. This step led to the creation of a comparative physical map between the complete genome of stickleback and the BES of tilapia along with a tilapia RH map. The second step is to analyse the chromosome corresponding to the LG3 (Chr3). Using methods, tools and data developed during the first step, we recreated the Chr3, annotated it and listed the genes involved in the sex cascade in Nile tilapia
Peron, Sophie. „Caractérisation moléculaire des déficits immunitaires héréditaires liés à un défaut de la commutation isotypique des immunoglobulines“. Paris 7, 2008. http://www.theses.fr/2008PA077109.
Der volle Inhalt der QuelleAntibody diversity generation occurs in two steps: the primary antibody repertoire is generated in the fetal liver and in the bone marrow by means of the v(d)j recombination process and the secondary antibody repertoire is shaped in secondary lymphoid organs. The terminal maturation of b lymphocytes occurs in the germinal centers of the secondary lymphoid organs following antigen (ag) and t-cell-driven activation. Two major events take place: class switch recombination (csr) resulting in the production of immunoglobulin (ig) of different isotypes and somatic hypermutations (shm). Defects in the terminal maturation of b cells result in ig-csr deficiencies. Ig-csr deficiencies are rare primary immunodeficiencies characterized by a defective ig-csr variably associated with defective shm. Activation-induced cytidine deaminase (aid) and uracil-n glycosylase (ung) deficiencies have established the major role of aid in antibody maturation. Meanwhile, most cases of intrinsic b-cell defects responsible for ig-csr deficiencies are not due to aid or ung deficiencies and are related to unknown molecular basis. The major aim of my thesis was to contribute to the molecular characterization of these immunodeficiencies. We have characterized two new ig-csr deficiencies: the first one is due to pms2 deficiency, the second is assosiated with defective dna repair. The ongoing delineation of inherited ig-csr deficiencies is essential from a medical point of view and contributes to a better understanding of the complex mechanisms underlying antibody maturation in humans
Couvert, Philippe. „Physiopathologie moléculaire des retards mentaux syndromiques et non spécifiques liés à des mutations du gène MECP2“. Paris 5, 2002. http://www.theses.fr/2002PA05CD07.
Der volle Inhalt der QuelleFauconnier, Alain. „L'invasine, produit du gène inv de Yersinia enterocolitica :analyse fonctionnelle de la protéine et des déterminants codés par les gènes flagellaires liés à inv“. Doctoral thesis, Universite Libre de Bruxelles, 1995. http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/212545.
Der volle Inhalt der QuelleBoudry, Pierre. „Le rôle des ARN non codants dans le contrôle de processus liés à la pathogenèse chez Clostridium difficile“. Sorbonne Paris Cité, 2015. http://www.theses.fr/2015USPCC156.
Der volle Inhalt der QuelleClostridium difficile is the cause of most frequently occurring nosocomial diarrhea worldwide. Our previously data strongly suggest the importance of RNA-based mechanisms for the control of gene expression in C. Difficile. In an effort to understand the function of the RNA chaperone protein Hfq, we constructed and characterized an Hfq-depleted strain. In accordance with observed phenotypes, the transcriptome analysis revealed pleiotropic effects of Hfq depletion on gene expression, including genes encoding proteins involved in sporulation, stress response, metabolic pathways, cell wall-associated proteins, transporters, and transcriptional regulators. Remarkably, a great number of genes of the regulon dependent on sporulation-specific sigma factor, SigK, were upregulated in the Hfq¬depleted strain. We found a regulatory RNA, named RCd1, binding Hfq with a high affinity in vitro and in vivo. Our results suggest that RCd1 control SigK expression by the inhibition of skie element excision, a sigk disrupting cryptic prophage. As an enteropathogen, C. Difficile must be exposed to multiple exogenous genetic elements in bacteriophage-rich gut communities. CRISPR-Cas systems based on non-coding RNA, allow bacteria to adapt to foreign genetic invaders. Our data revealed active expression and processing of CRISPR RNAs from multiple type I-B CRISPR arrays. Through plasmid conjugation experiments and plasmid transformation experiments in a heterologous host, Escherichia coli, we demonstrate a defensive function of the CRISPR-Cas system. Altogether, this thesis provides characterization and identification of non-coding RNA—based mechanisms in this emergent enteropathogen
Ouédraogo, Tinga Jérémy. „Construction d'une carte de liaison génétique du niébé, Vigna unguiculata L. (Walp.) et identification de marqueurs AFLP liés aux gènes de résistance au Striga gesnerioides (Willd.) Vatke“. Thesis, National Library of Canada = Bibliothèque nationale du Canada, 2001. http://www.collectionscanada.ca/obj/s4/f2/dsk3/ftp04/NQ60781.pdf.
Der volle Inhalt der QuellePontiroli, Alessandra. „Devenir de l'ADN transgénique dans les environnements liés à la plante et au sol : implications potentielles dans les transferts horizontaux de gènes entre plantes transgéniques et bactéries“. Lyon 1, 2006. http://n2t.net/ark:/47881/m6bk19s3.
Der volle Inhalt der QuelleHorizontal gene transfers (HGT) are considered as the major force of bacterial evolution, which allowed for the colonisation of most ecosystems of the biosphere. Mechanisms implied in such gene transfers are transduction, conjugation and natural transformation. Today, these mechanisms endow bacteria with an adaptive potential ensuing from different stress linked to chemical pollution by xenobiotics or massive antibiotic utilisation. HGT are also responsible for societal concerns about new technologies such as plant bioengineering, being held responsible of the dissemination of transgenes via natural transformation from transgenic plants to soil bacteria. This last HGT process is characterized by some universality, since bacteria may acquire genes of other microorganisms more or less phylogenetically related or even from eukaryotes such plants. This thesis project focused on the study of the fate of plant transgenic DNA in the environment and of its interactions with the microbiota. To this aim transplastomic tobacco plants, characterized for an extremely high transgene copy number per cell, and several complementary microbiological and molecular biological approaches have been used, to track the different levels of interaction between plant DNA and bacteria dwelling in the phytosphere or in soil. Our work allowed to determine the degree of persistence of DNA molecules released into soil by the decaying plant and of the maintenance of the DNA biological potential vis- à -vis the telluric microflora. Several ecological niches particularly favourable to horizontal gene transfer between plant and prokaryotes have been identified. This is paradigmatic in the case of decaying plant tissues (the residuesphere) which provided conditions conducive to bacterial growth and competence development. This work confirms that certains environmental conditions might be highly favourable for genetic exchange between bacteria and potentially allow the dispersion of plant transgenes towards the environmental microflora
Tollot, Marie. „Recherche de gènes fongiques codant des facteurs de transcription liés à l'établissement de la symbiose mycorhizienne à arbuscules : identification et caractérisation du gène GintSTE de Glomus intraradices“. Dijon, 2009. http://www.theses.fr/2009DIJOS006.
Der volle Inhalt der QuelleThe transcription factor GintSTE, the first STE12 homologue to be identified in a mycorrhizal fungus (Glomus intraradices), is similar to other STE12 proteins from filamentous fungi and seems to be conserved among the Glomeromycota. GintSTE is induced during spore germination and its expression increases in extraradical fungal structures upon penetration of the rhizodermis. Moreover, GintSTE can restore invasive growth of an ste12Δ yeast mutant as well as penetration of host tissues by a clste12Δ mutant of the hemibiotrophic plant pathogen Colletotrichum lindemuthianum, suggesting that symbiotic and pathogenic fungi may share common determinants for invasion of plant tissues. GintSTE could thus be involved in the control of the early symbiotic morphogenesis and in particular in the process of penetration of plant tissues by AM fungi. Sequences targeted by GintSTE have been identified from reverse one-hybrid yeast experiments. They contain regulating elements closely related to those recognized by STE12 in yeast (PRE, Pheromone Responsive Element) which are able to interact with a recombinant GintSTE protein in vitro. The organization of PRE sites indicate that GintSTE may simultaneously regulate the expression of distinct genes by interacting with distal regulating modules of enhancer type. Homologues of the yeast STE12-regulated genes involved in plasma membrane and cell wall synthesis, morphogenesis control or stress responses could be regulated by GintSTE in G. Intraradices
Makhlouf, Mélanie. „Etude du réseau de régulation de Xist/XIST : caractérisation d'un rôle conservé de YY1 dans la supression mono-allélique de ce gène“. Paris 7, 2012. http://www.theses.fr/2012PA077142.
Der volle Inhalt der QuelleIn female mammals, early embryonic development is accompanied by the transcriptional inactivation of one of the two X chromosomes. The latter process strictly relies on the monoallelic upregulation ofXist, a long non-codinig RNA. Although several Xist activating elements have been recently identified in mouse, the molecular mechanisms underlying Xist differential allelic regulation remain poorly understood. My PhD project aimed at identifying factors directly involved in the control of Xist/XIST asymmetric expression in both mouse and human. Using chromatin immunoprecipitation and RNA interference, I uncovered a key role for YY1 in the transcriptional activation ofXist. I also showed that YY1 was necessary for the proper initiation of inactivation as well as for the maintenance of Xist expression in differentiated cells. YY1 binds exclusively the active Xist alle le. This monoallelic binding appears to be DNA-methylation dependent. Importantly, the characterization of YY1 binding profiles in human cells, in addition to knockdown experiments revealed a conserved function of YY1 in human. Ultimately, our bioinformatics analysis predicted that this conservation broadens to other eutherian mammals. My PhD work allowed thé characterization of thé first transcriptional activator of Xist/XIST involved in an allelic régulation. It defines the molecular basis of a common regulatory network between placental mammals, which appeared up to now to adopt divergent strategies for achieving the establishment of a same dosage compensation mechanism
Fabre, Odile. „Rôle de l'endoribonucléase latente (RNase L) dans l'immunité innée et l'inflammation chronique lors du développement de l'insulinorésistance“. Thesis, Montpellier 1, 2013. http://www.theses.fr/2013MON13506.
Der volle Inhalt der QuelleInsulin resistance, which is characterized by the incapacity of organs involved in the energetic metabolism (adipose tissue, skeletal muscles and liver) to respond to insulin, has a central place in the pathophysiology of the metabolic complications associated to obesity. The onset of insulin resistance in obese subjects is multifactorial and the molecular mechanisms involved have not yet been completely elucidated.The mainly hyperplasic expansion of white adipose tissue leads to hypoxia and stress in adipocytes, inducing an increased release of inflammatory cytokines and free fatty acids (FFA). FFA bind and activate the toll-like receptors (TLR) of the innate immunity system, leading to the secretion of inflammatory cytokines. These FFA and cytokines, taken by the systemic circulation, contribute, with the cooperation of macrophages infiltrating the adipose tissue, to the development of a chronic low-grade inflammation. Thus, the disturbances of the energetic homeostasis, associated with an activation of the immune system cause a global impairment of insulin sensitivity of the body, with particularly deleterious effects on muscular metabolism.This study focuses on the role of an effector of innate immunity, the latent endoribonuclease (RNase L). RNase L expression is regulated by type I interferons and is activated by the 2-5A oligoadenylate. RNase L splits cellular RNA, thus leading to the specific inhibition of the expression of certain genes. In this study, we demonstrate the implication of RNase L in the control of cell differentiation and the pathogenesis of obesity-associated insulin resistance, via the regulation of inflammatory pathways in the adipose and muscular tissues
Zhang, Zhe. „In silico modeling the effect of single point mutations and rescuing the effect by small molecules binding“. Paris 7, 2013. http://www.theses.fr/2013PA077054.
Der volle Inhalt der QuelleSingle-point mutation in genome, for example, single-nucleotide polymorphism (SNP) or rare genetic mutation, is the change of a single nucleotide for another in the genome sequence. Some of them will result in an amino acid substitution in the corresponding protein sequence (missense mutations); others will not. This investigation focuses on genetic mutations resulting in a change in the amino acid sequence of the corresponding protein. This choice is motivated by the fact that missense mutations are frequently found to affect the native function of proteins by altering their structure, interaction and other properties and cause diseases. Particular disease is the Snyder-Robinson syndrome (SRS), which is an X-linked mental retardation found to be caused by missense mutations in human spermine synthase (SMS). In this thesis, a rational approach to predict the effects of missense mutations on SMS wild-type characteristics was carried. Following this work, a structure-based virtual screening of small molecules was applied to rescue the disease-causing effect by binding the small molecules to the corresponding malfunctioning SMS mutant
Zhang, Xing. „Exploring fungal virulence using C. elegans“. Thesis, Aix-Marseille, 2020. http://theses.univ-amu.fr.lama.univ-amu.fr/200924_ZHANG_406xehco6dvggp718z420kj_TH.pdf.
Der volle Inhalt der QuelleAmong the candidates were several heat-labile enterotoxins, a protein family that is expanded in the genome of D. coniospora compared to other pathogenic fungi. We focused on 3 (DcEntA-C). Expression of DcEntA and DcEntB, but not DcEntC made worms sick and more susceptible to infection. Normally, D. coniospora infection provokes the induction of expression of antimicrobial peptide genes of the nlp and cnc families. Interestingly, expression of the single enterotoxin DcEntA blocked the transcription of both nlp and cnc genes. DcEntA acted by inhibiting the nuclear translocation of the STAT transcriptional factor STA-2, required for defence gene expression. We demonstrated that this effect was specific as DcEntA induced high expression of a STA-2-independent infection-inducible gene. In contrast, worms expressing the enterotoxin DcEntB exhibited a STA-2 dependent elevation of nlp-29 expression. DcEntB was localized to the nucleolus and affected nucleolus size and morphology. The molecular basis of these differences and the relative importance of these factors during infection was explored in detail. Our result revealed the complexity of fungal virulence strategies. Overall, by dissecting the mode of action of different virulence factors, this study allowed us to understand better fungal pathogenesis and the evolutionary arms race between host and pathogen
Poonlaphdecha, Srisupaph. „Recherche et caractérisation de gènes exprimés dans les gonades et le cerveau d'Oreochromis niloticus, utilisables comme marqueurs liés au sexe pour la production de populations monosexes mâles par des approches respectueuses de l'environnement“. Thesis, Montpellier 2, 2010. http://www.theses.fr/2010MON20223.
Der volle Inhalt der QuelleKnowledge and the control of sex determination and differentiation are major challenges for tilapia production. Farming of male monosex populations avoids the negative effects of a continuous reproduction and benefits from males' fast growth. In the context of a sustainable aquaculture, alternative and ecological strategies have to be developed to control sex in tilapia without hormonal treatment. These approaches will rely on genetic and environmental treatments, such as the use of masculinising high temperatures applied during sex differentiation. The search for genes implicated in sex differentiation has been performed in both gonads and brains using the analysis of candidate genes. The objective was to develop putative markers to produce male monosex populations through consumer and environmentally friendly approaches. Temporal and organ expressions of cyp19a1a, cyp19a1b, foxl2, dmrt1, sox9, dax1 and amh were analysed in several progenies o f genetic males or females as well as in temperature-treated individuals. Their link with temperature masculinisation was also performed on the thermosensitive tilapia lines. One of the sexual dimorphic genes was amh which was found expressed in both gonads and brains during early stages of sex-differentiation. Brain amh was elevated in males when the gonads were still undifferentiated and probably before steroid synthesis took place. A precocious molecular sexing procedure was developed in tilapia using this gene. This procedure will be of great advantage for both farmers and scientists in identifying quickly male individuals and in finding reliable male monosex approaches not using hormones
Boury, Stéphane. „Développement chez le chou-fleur (Brassica oleracea var. Botrytis L. ) de techniques et méthodologies de recherche de marqueurs moléculaires génétiquement liés à des gènes d'intérêt : pertinence en création variétale (Sélection Assistée par Marqueurs)“. Brest, 2007. http://www.theses.fr/2007BRES2022.
Der volle Inhalt der QuelleCauliflower is one of the most important vegetable crops in Brittany, the leading vegetable producing area of France. The region produces 75% of the national crop. BBV (Bretagne Biotechnologie Végétale) is a centre for applied research with a mission for technology transfer from the academic research sector (close collaboration between BBV and INRA, Universities and CNRS) to the agricultural world. The creation of the centre was an initiative of vegetable growers in Brittany, supported by the local and regional authorities. Within this context, a major objective is te development of molecular markers and their application to cauliflower breeding (Marker Assisted Selection, MAS). In ibis PhD project, we used «Near-Isogenic lines» and «Bullced Segregant Analysis» for obtaining molecular markers linked to several cauliflower genes, each of them inducing malesterility (a trait winch suppress the self-fertilization of the female line during the F1 hybrid seed production). Markers closely linked to each of the 3 studied genes were obtained, and are now routinely used in breeding programs (MAS). Moreover, these 3 genes were located on the genetic map for cauliflower: ail are on the same linkage group (chromosome), and 2 of them seems to be alleles. Tins project dealt with a qualitative trait, but other work involving a QTL detection approach for a quantitative trait was also undertaken. The sum of these experiences convince us of the pertinence of applying schemes such as MABC (Marker Assisted Back-Crosses) when dealing with monogenic (or indeed oligogenic) traits in cauliflower breeding programmes. However, it will be necessary to await the emergeance of new (high throughput, low cost) technologies to be able to apply MAS to polygenic traits in cauliflower breeding. Besides te application of molecular markers to genetic linkage studies, this PhD project allowed us to acquire experience in fields such as cultivar identification and molecular detection of plant pathogens
Häfner, Sophia Julia. „Study of X-inactivation independent functions of the conserved long noncoding RNA Ftx“. Paris 7, 2014. http://www.theses.fr/2014PA077015.
Der volle Inhalt der QuelleMy PhD project focuses on the study of the long RNAnc Ftx, whose gene is located in the X chromosome inactivation center, a region rich in genes encoding long RNAncs and in charge of the inactivation process of one X chromosome in female mammals. The team has shown that the expression of Ftx favors the expression of the neighboring genes, conferring it the role of an activator of the inactivation process. Ftx is also expressed in the adult murine organism, more specifically in the brain, suggesting thus functions independent of the inactivation process. As a consequence, I focused on the potential implication of Ftx in de development and/or the functions of the brain. Ftx expression in the brain is relatively homogeneous among different regions, although it is established only during the postnatal period, between P7 and P21, when it increases suddenly. This period corresponds to an important phase of restructuring of the murine brain like myelination and synaptic reorganization. Thus it is conceivable that Ftx takes part in one of these processes. Using a cellular model based on wild-type and Ftx-deleted mouse embryonic stem cells? I developed a technique of in vitro neural differentiation. Although the lors of Ftx does not impact in a visible way on the neural differentiation potential of the cells, an analysis by microarray revealed that it causes the overexpression of several Hox genes. These combined results reinforce the initial hypothesis and lay numerous exciting tracks
Kanaan, Sami barna. „Facteurs de risque liés au chromosome X à l'origine de la prédominance des femmes dans la polyarthrite rhumatoïde“. Thesis, Aix-Marseille, 2013. http://www.theses.fr/2013AIXM4112/document.
Der volle Inhalt der QuelleAs in many autoimmune diseases, a female predominance is observed in rheumatoid arthritis (RA). The X chromosome, present in 2 copies in females, is of particular interest as it contains many genes with immune functions. In this work, we show an increase with age in copy number of some X-linked genes in peripheral blood cells of men, healthy or with RA. Importantly, this increase is not observed in women. On the other hand, when in fact females generally randomly inactivate (50:50) either the paternally-derived or the maternally-derived X chromosome, we show a skewed inactivation (≥ 80:20) in women with RA. Moreover this skewing correlates preferentially with women carrying disease susceptibility genes. Altogether, our findings highlight the importance of this fascinating chromosome in the development of autoimmunity in a step forward to better understand female predilection to autoimmune diseases
Fornuskova, Alena. „Genes of innate immunity and their significance in evolutionary ecology of free livings rodents“. Phd thesis, Université Montpellier II - Sciences et Techniques du Languedoc, 2013. http://tel.archives-ouvertes.fr/tel-01021258.
Der volle Inhalt der QuelleMuyle, Aline. „Évolution des chromosomes sexuels chez les plantes : développements méthodologiques et analyses de données NGS de Silènes“. Thesis, Lyon 1, 2015. http://www.theses.fr/2015LYO10109/document.
Der volle Inhalt der QuelleIn many organisms, sexes are determined by sex chromosomes. However, studies have been greatly limited by the paucity of sex chromosome sequences. Indeed, sequencing and assembling sex chromosomes are very challenging due to the large quantity of repetitive DNA that these chromosomes comprise. In this PhD, a probabilistic method was developed to infer sex-linked genes from RNA-seq data of a family (parents and progeny of each sex). The method, called SEX-DETector, was tested on simulated and real data and should performwell on a wide variety of sex chomosome systems. This new method was applied to Silene latifolia, a dioecious plant with XY system, for which partial sequence data on sex chromosomes are available (some of which obtained during this PhD by BAC sequencing), SEX-DETector returned ∼1300 sex-linked genes. In S. latifolia, Y genes are less expressed than their X counterparts. Dosage compensation (a mechanism that corrects for reduced dosage due to Y degeneration in males) was previously tested in S. latifolia, but different studies returned conflicting results. The analysis of the new set of sex-linked genes confirmed the existence of dosage compensation in S. latifolia, which seems to be achieved by the hyperexpression of the maternal X chromosome in males. An imprinting mechanism might underlie dosage compensation in that species. The RNAseq datawere also used to study the evolution of differential expression among sexes in S. latifolia, and revealed that in this species most changes have affected the female sex. The implications of our results for the evolution of dioecy and sex chromosomes in plants are discussed
Raess, Matthieu. „Deciphering the functional and molecular differences between MTM1 and MTMR2 to better understand two neuromuscular diseases“. Thesis, Strasbourg, 2017. http://www.theses.fr/2017STRAJ088.
Der volle Inhalt der QuelleMTM1 and MTMR2 are 2 phosphatases of phosphoinositides that belong to the myotubularin family conserved through evolution. Despite their high level of similarity, mutations in MTM1 lead to the severe XLCNM myopathy while mutations in MTMR2 lead to the CMT4B neuropathy. The molecular bases for the surprising tissue-specific functions of these ubiquitously expressed proteins was unclear. Moreover, there is no specific therapy for these diseases.I first characterized the activity of the two naturally occurring isoforms of MTMR2, that we named MTMR2-L (long) and MTMR2-S (short). I found that the functional differences between MTM1 and MTMR2 reside mostly in the N-terminal extension of MTMR2-L, and that the endogenous MTMR2-S isoform lacking this N-terminal extension behaves similarly as MTM1. Then, using the myopathic Mtm1 KO mouse and AAV-mediated expression, I showed that exogenous expression of MTMR2 isoforms, and specifically of MTMR2-S, strongly improved the muscle atrophy, muscle force and the histological hallmarks of the myopathic mice. These data reveal a first molecular basis for the functional specificities of MTM1 and MTMR2, and highlight MTMR2 as a therapeutic target for XLCNM myopathy
Liu, Yi. „Calcium-related fungal genes implicated in arbuscular mycorrhiza“. Phd thesis, Université de Bourgogne, 2012. http://tel.archives-ouvertes.fr/tel-00985826.
Der volle Inhalt der QuelleHan, Yi. „Functional analysis of glutathione and autophagy in response to oxidative stress“. Thesis, Paris 11, 2012. http://www.theses.fr/2012PA112392/document.
Der volle Inhalt der QuelleH2O2 is a recognized signal in activation of defence mechanisms in response to various stresses, and its accumulation is thus tightly controlled by plant antioxidant systems. Because H2O2 signals may be transmitted by thiol-dependent processes, glutathione status could play an important role. While the antioxidant role of this compound is long established, the importance of glutathione in signaling remains unclear. To study this question, this work exploited a stress mimic mutant, cat2, which has a defect in metabolism of peroxisomal H2O2 that conditionally leads to oxidation and accumulation of glutathione. In cat2, changes in glutathione are accompanied by activation of both salicylic acid (SA)-dependent responses and jasmonic acid (JA)-associated genes in a time-dependent manner. This up-regulation of both phytohormone signaling pathway by intracellular oxidative stress can be largely prevented by genetically blocking glutathione accumulation in a double mutant, cat2 cad2, that additionally carries a mutation in the pathway of glutathione synthesis. Contrasting phenotypes between cat2 cad2 and cat2 gr1, in which loss of GR1 activity exacerbates oxidative stress, suggest that glutathione-dependent processes couple H2O2 to activation of SA-dependent pathogenesis responses through an effect that is additional to glutathione antioxidant functions. Direct comparison of cat2 cad2 and cat2 npr1 double mutants suggests that the effects of blocking glutathione accumulation on cat2-triggered up-regulation of both SA and JA pathways are not mediated by defective NPR1 function. Autophagy has been implicated in processes such as senescence, and may interact with oxidative stress and SA signaling. To explore relationships between autophagy and oxidative stress, selected atg mutants were crossed with cat2. Phenotypic analysis revealed that SA-dependent lesion spread observed in cat2 grown in long days is similar in three cat2 atg double mutants, whereas increased peroxisomal H2O2 availability in cat2 delays an oxidative stress related-senescence triggered by atg in short days. Overall, the work suggests that (1) novel glutathione-dependent functions are important to couple intracellular H2O2 availability to the activation of both SA and JA signaling pathways and (2) H2O2 produced through photorespiration may play an antagonistic role in the early senescence phenotype observed in atg mutants
Di, Sante Jessica. „Méthylation de gènes liés au stress à travers différents tissus périphériques humains, et la pertinence pour le fonctionnement cérébral“. Thèse, 2017. http://hdl.handle.net/1866/19431.
Der volle Inhalt der QuelleBenmouissa, Saloua. „Conséquence du stress oxydatif des embryons bovins cultivés in vitro“. Thèse, 2005. http://hdl.handle.net/1866/17517.
Der volle Inhalt der Quelle