title: [Site specific mutagenesis by homologous recombination in embryonic stem cells].
abstract: Twenty years ago, the production of mice whose genomes have been deliberatly modified revolutionised biology. Indeed, it is now possible to eliminate a gene's expression to various levels in desired locations, and also to broadcast these genetic modifications created in vitro to the progeny. The isolation and culture of embryonic stem cells (ES) and the discovery of the mechanism of homologous recombination between two sequences of DNA in the 80's, have contributed to the development of site-directed mutagenesis. Today, site specific mutagenesis by homologous recombination in embryonic stem cells is a powerful technique and is widely used throughout the world. In parallel, new techniques to invalidate targeted genes are emerging. These genetics tools, which we will introduce, allow for a better understanding of a gene's function both in fundamental and clinical research. It is now possible to create murine models of human genetic diseases including Lesch-Nhyan syndrome, Adenomatous Polyposis and Duchenne muscular dystrophy which we will discuss as examples.
authors.affiliation: Centre de Génétique Moléculaire, CNRS, avenue de la Terrasse, 91198 Gif-sur-Yvette. ophelie.broca@psl.aphp.fr
authors.forename: O
authors.initials: O
authors.lastname: Broca
authors.forename: V
authors.initials: V
authors.lastname: Bello
mesh_terms: D001483:Base Sequence; D004247:DNA / Q000235:genetics; D053595:Embryonic Stem Cells / Q000166:cytology / Q000502:physiology*; D030342:Genetic Diseases, Inborn / Q000235:genetics; D015894:Genome, Human; D006801:Humans; D016297:Mutagenesis, Site-Directed / Q000379:methods* / Q000639:trends; D030781:Organisms, Genetically Modified; D016133:Polymerase Chain Reaction; D011995:Recombination, Genetic
chemical_list: D004247:DNA