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Littérature scientifique sur le sujet « Gènes dominants »
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Articles de revues sur le sujet "Gènes dominants"
Philippe, Pierre. « L'apparentement génétique au Québec : risques pour la descendance ». Anthropologie et Sociétés 9, no 3 (10 septembre 2003) : 177–95. http://dx.doi.org/10.7202/006294ar.
Texte intégralSabbagh, Margot. « Mieux s’y retrouver grâce à la génétique des robes ». Le Nouveau Praticien Vétérinaire équine 17, no 59 (2023) : 8–18. http://dx.doi.org/10.1051/npvequi/2024007.
Texte intégralBélair, Guy. « Histoire de la nématologie au Québec : ce n’est qu’un début ! » Phytoprotection 89, no 2-3 (20 novembre 2009) : 99–101. http://dx.doi.org/10.7202/038237ar.
Texte intégralBOICHARD, Didier, C. GROHS, C. DANCHIN-BURGE et A. CAPITAN. « Les anomalies génétiques : définition, origine, transmission et évolution, mode d'action ». INRA Productions Animales 29, no 5 (9 janvier 2020) : 297–306. http://dx.doi.org/10.20870/productions-animales.2016.29.5.2997.
Texte intégralStellzig-Eisenhauer, Angelika, Eva Decker, Philipp Meyer-Marcotty, Christiane Rau, Britta S. Fiebig, Wolfram Kress, Kathrin Saar et al. « Défaut primaire d’éruption (DPE). Analyse génétique clinique et moléculaire ». L'Orthodontie Française 84, no 3 (septembre 2013) : 241–50. http://dx.doi.org/10.1051/orthodfr/2013055.
Texte intégralMULSANT, P. « Glossaire général ». INRAE Productions Animales 24, no 4 (8 septembre 2011) : 405–8. http://dx.doi.org/10.20870/productions-animales.2011.24.4.3273.
Texte intégralBachner, L. « La chasse au gène de la polykystose rénale autosomique dominante ». médecine/sciences 6, no 9 (1990) : 904. http://dx.doi.org/10.4267/10608/4258.
Texte intégralBANNEROT, Hubert, Joseph-Martin BELL, Bernard BOSC et Robert CAMUT. « Un gène dominant de stérilité mâle chez le haricot (Phaseolus vulgaris L.) ». Agronomie 7, no 8 (1987) : 563–66. http://dx.doi.org/10.1051/agro:19870802.
Texte intégralTIXIER-BOICHARD, M. « Polymorphismes moléculaires et phénotypes ». INRAE Productions Animales 13, HS (22 décembre 2000) : 55–61. http://dx.doi.org/10.20870/productions-animales.2000.13.hs.3811.
Texte intégralMacarez, R., P. Amati-Bonneau, X. Burelle, M. Vanimschoot, C. Dot, P. Ocamica, J. L. Kovalski et F. May. « Nouvelle mutation du gène OPA1 responsable d’une atrophie optique dominante isolée chez deux frères ». Journal Français d'Ophtalmologie 30, no 2 (février 2007) : 161–64. http://dx.doi.org/10.1016/s0181-5512(07)89567-2.
Texte intégralThèses sur le sujet "Gènes dominants"
Jourdain, Jeanlin. « Détection et caractérisation de variants génétiques affectant la fertilité ou la durée de gestation chez les bovins en valorisant des bases de données populationnelles ». Electronic Thesis or Diss., université Paris-Saclay, 2024. http://www.theses.fr/2024UPASB028.
Texte intégralAbstract: The ability of animals to reproduce is a key factor in herd management, leading to the induction of lactation and the birth of calves for the market or for replacement. Over the past 80 years, cattle fertility has declined sharply as a result of selection that has long focused on production traits. The aim of my thesis was to exploit the large French databases - consisting of 7 million births per year, traceability, and performance information on these animals, supplemented by 2 million genotypes on SNP arrays and the sequences of complete genome of 5,000 bulls - to identify loci influencing different aspects of male and female fertility and gestation length. By developing a mapping method based on the study of linkage disequilibrium between markers from different chromosomes in large families, 12 interchromosomal rearrangements were identified. They affect the fertility of carrier sires, their daughters and various fitness traits. Some twenty recessive loci have also been revealed by conducting case/control approaches on groups of animals with contrasting phenotypes, strongly impacting male or female fertility. Hundreds of thousands of matings between genotyped animals have made it possible to study the interactions of parental genomes on insemination outcomes, and to initiate studies on compatibility between animals. Finally, works on gestation length in 16 French breeds has added to our knowledge on the heritability and variability of this trait, and described the risks associated with selection for shorter gestations. All these results show that cattle can be used as a model for genetic research, thanks to the data routinely generated on the farm. They should also be used in genetic selection to improve animal fertility, a key factor in the sustainability of cattle farming
Dhaenens, Claire-Marie. « "Etude de l'effet trans-dominant de la mutation du gène de la dystrophie myotonique (type 1) sur l'épissage des gènes MBNL1 et Tau" ». Lille 2, 2006. http://www.theses.fr/2006LIL2S029.
Texte intégralMalaguti, Giulia. « Analyses théoriques de l'expansion des familles de gènes impliqués dans des maladies dominantes ». Thesis, Paris 6, 2014. http://www.theses.fr/2014PA066319/document.
Texte intégralGene families implicated in cancer and other genetic diseases have been greatly expanded through two rounds of whole-genome duplication (WGD) that occurred at the onset of jawed vertebrates. However, such gene duplicates are expected to lead to an enhanced susceptibility to genetic diseases, and thus their retention represents an evolutionary puzzle from a natural selection perspective. In this thesis, we have expanded classical population genetics models to reveal the non-adaptive mechanism through which such potentially deleterious ohnologs (WGD-duplicated genes) were retained in the vertebrate genomes. We have solved a deterministic haploid model, we have considered extensions to diploid genotypes, and we have analyzed population size effects and the impact of positive selection through a stochastic approach. The results demonstrate, consistently with available human cancer genome data, that ohnologs prone to dominant deleterious mutations are indirectly selected through purifying selection in post-WGD species, arisen through the ploidy incompatibility between post-WGD individuals and the rest of the pre-WGD population. Extending advanced Bayesian inference methods to quantify direct and indirect causal effects, we have found further supporting evidences for the direct role of the gene susceptibility to deleterious mutations on ohnolog retention. Our findings rationalize the evolutionary mechanism responsible for the expansion of ohnologs prone to dominant deleterious mutations, highlighting the role of WGD-induced speciation. Our extension of Bayesian inference methods paves the way for the identification of direct causal relationships in a huge variety of problems
Le, May Cédric. « Rôle du récepteur nucléaire PPAR alpha dans la régulation du métabolisme énergétique hépatique et l'effet transcriptionnel des acides gras ». Paris 7, 2004. http://www.theses.fr/2004PA077111.
Texte intégralLarvor, Lydie. « Etude de formes familiales autosomiques dominantes de la maladie de Parkinson ». Lille 2, 2008. http://www.theses.fr/2008LIL2S033.
Texte intégralBillant, Olivier. « Utilisation de la levure S. cerevisiae pour déchiffrer les mécanismes de l'effet dominant-négatif affectant la famille de gènes suppresseurs de tumeurs p53, p63 et p73 ». Thesis, Brest, 2016. http://www.theses.fr/2016BRES0055/document.
Texte intégralP53 is a ubiquitous tumor suppressor gene that prevents damaged cells from proliferating. Following DNA damage or cellular stress, p53 induces a cell cycle arrest and initiates an attempt to repair the lesions. If the repair fails, p53 triggers the apoptosis of the cell. p53 shares a high homology with two other tumor suppressor genes: p63 and p73. Together they form a family of transcription factors, which are actively protecting the organism from tumor development. This defense network is enriched by multiple N-terminal and C-terminal isoforms of p53, p63 and p73. The loss of p53, p63 and p73 tumor suppression function is a key step of cancer progression. Mutants of p53 and isoforms of p53, p63 and p73 often exhibit a dominant-negative behavior resulting in the loss of p53 tumor suppression activity. However, the extent of the dominant-negative effect within p53 family remains unclear. The mechanisms behind the dominant-negative effect are also debated due to the recent emergence of a prion-like hypothesis. Finally, the dominant-negative effect of p53 family members could be involved in other pathologies such as p63-related developmental syndromes During this PhD, I studied the functional consequences of hotspot mutations of p53 and of the main isoforms of the p53 family on the transcriptional activity of p53, p63 and p73. Using the naïve eukaryotic model S. cerevisiae we have demonstrated that the dominant-negative effect of mutants and isoforms of the p53 family relies on the formation of hetero-tetramers between functional and non-functional members of the family but not on a prion-like mechanism. In addition, certain p53 mutants are able to interfere with p63 and p73 isoforms though a mechanism that is only partially based on tetramerization. Of note, we obtained preliminary results suggesting that mutants of p63, which are involved in EEC, ADULT and NSCL1 developmental syndromes, behave like dominant-negative hotspot mutants of p53. The identification of the mechanisms of the dominant-negative effect occurring within p53 family could lead to new therapeutic targets both in cancer and in rare developmental syndromes.1 EEC : ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome, ADULT : acro-dermato-ungual-lacrimal-tooth syndrome, NSCL : non-syndromic cleft lip
Arnould, David. « Reconditionnement musculaire dans un modèle murin de myopathie centronucléaire autosomique dominante par inactivation du gène myostatine ». Thesis, Lyon, 2018. http://www.theses.fr/2018LYSES008/document.
Texte intégralAutosomal dominant centronuclear myopathy (AD-CNM) is a rare congenital muscle disease caused by mutations predominantly found in the dynamin 2 gene (DNM2). The clinical features generally reported are progressive muscle atrophy and weakness. To date, no treatment is available. The mouse model for AD-CNM harboring a mutation of the dynamin-2 gene (KI-Dnm2R465W/+) reproduces some of the human clinical features, notably muscle atrophy and weakness. Mstn, is a master negative regulator of skeletal muscle mass. We hypothesized that inactivation of mstn could limit muscle atrophy and weakness reported in the AD-CNM mouse model (KI-dnm2R465W/+). To test this hypothesis, we intercrossed KI-Dnm2R465W/+ mice with mice inactivated for mstn (KO-mstn) to generate a double mutated lineage (KIKO). The present study demonstrates that mstn gene inactivation allows for an improvement of muscle weight and volume, prevents muscle weakness and motor skill alterations. Our data also reveal that inactivation of mstn essentially downregulates some actors implicated in the catabolic ubiquitin-proteasome system. Furthermore, we show that inactivation of mstn decreases the frequency of of histological abnormalities characteristical in KI mice. We hypothesize that these abnormalities could be due to an alteration of mitochondrial function and network. The perspective to this work is to verify this hypothesis in the mouse model, which will contribute to a better understanding of the physiopathological mechanisms and can open new insight in the therapeutical approach to AD-CNM
Delettre-Cribaillet, Cécile. « Génétique des dystrophies héréditaires de la rétine : identification du gène responsable de l'atrophie optique dominante OPA1 ». Montpellier 1, 2002. http://www.theses.fr/2002MON1T002.
Texte intégralGuillet, Virginie. « Métabolisme énergétique mitochondrial dans les neuropathies héréditaires associées aux mutations des gènes OPA1 et MFN2 ». Phd thesis, Université d'Angers, 2009. http://tel.archives-ouvertes.fr/tel-00459846.
Texte intégralMata, Xavier. « Analyse structurale et fonctionnelle de gènes voisins du "locus" de l'α-lactalbumine caprine : application à la recherche d'éléments "cis"-régulateurs à effet dominant ». Limoges, 2003. http://www.theses.fr/2003LIMO0033.
Texte intégralThe recent use of large genomic fragment (BACs or YACs) has allowed to avoid this "position effect". This has been observed with a vector that was developed in our laboratory that consists of a 160 kb goat BAC insert (BAC 41) encompassing the a-lactalbumin gene, suggesting the occurrence of dominant cis-regulatory elements. The aim of this thesis was to further analyse this insert. Transgenic experiments using a derived shorter BAC of 60 kb allowed us to localise these regulatory elements in a 5' distal region of the a-lactalbumin locus. In this region two loci were identified: the cyclin T1 and FLJ20436. Characterisation of these genes revealed that they were functional within the BAC 41 and ubiquitously expressed. Surprisingly, the use of the cyclin T1 promoter in transgenics resulted in an ubiquitous expression unexpectedly high only in male germ cells. FLJ20436 pre-mRNA has a very complex splicing pattern that is conserved during evolution. These observations led us to suspect the occurrence of two chromatin domains separating these ubiquitously expressed genes from the a-lactalbumin one. Structural analysis of these genes has allowed to define a precise restriction map of the BAC 41 and to precise the location of the potential border region within the two chromatin domains. Search for cis-regulatory elements within this region was initiated. There identification and association with the a-lactalbumin promoter should contribute to the creation of efficient mammary specific expression vectors
Actes de conférences sur le sujet "Gènes dominants"
Lafont, J., J. H. Catherine, M. Lejeune, U. Ordioni, R. Lan et F. Campana. « Manifestations buccales de la sclérose tubéreuse de Bourneville ». Dans 66ème Congrès de la SFCO. Les Ulis, France : EDP Sciences, 2020. http://dx.doi.org/10.1051/sfco/20206603014.
Texte intégral