title: Differentiation of pluripotent stem cells to muscle fiber to model Duchenne muscular dystrophy.
abstract: During embryonic development, skeletal muscles arise from somites, which derive from the presomitic mesoderm (PSM). Using PSM development as a guide, we establish conditions for the differentiation of monolayer cultures of mouse embryonic stem (ES) cells into PSM-like cells without the introduction of transgenes or cell sorting. We show that primary and secondary skeletal myogenesis can be recapitulated in vitro from the PSM-like cells, providing an efficient, serum-free protocol for the generation of striated, contractile fibers from mouse and human pluripotent cells. The mouse ES cells also differentiate into Pax7(+) cells with satellite cell characteristics, including the ability to form dystrophin(+) fibers when grafted into muscles of dystrophin-deficient mdx mice, a model of Duchenne muscular dystrophy (DMD). Fibers derived from ES cells of mdx mice exhibit an abnormal branched phenotype resembling that described in vivo, thus providing an attractive model to study the origin of the pathological defects associated with DMD.
authors.affiliation: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS (UMR 7104), Inserm U964, Université de Strasbourg, Illkirch Graffenstaden, France.|Stowers Institute for Medical Research, Kansas City, Missouri, USA.|Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts, USA.|Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.|Harvard Stem Cell Institute, Boston, Massachusetts, USA.
authors.forename: Jérome
authors.initials: J
authors.lastname: Chal
authors.affiliation: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS (UMR 7104), Inserm U964, Université de Strasbourg, Illkirch Graffenstaden, France.
authors.forename: Masayuki
authors.initials: M
authors.lastname: Oginuma
authors.affiliation: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS (UMR 7104), Inserm U964, Université de Strasbourg, Illkirch Graffenstaden, France.
authors.forename: Ziad
authors.initials: Z
authors.lastname: Al Tanoury
authors.affiliation: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS (UMR 7104), Inserm U964, Université de Strasbourg, Illkirch Graffenstaden, France.
authors.forename: Bénédicte
authors.initials: B
authors.lastname: Gobert
authors.affiliation: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS (UMR 7104), Inserm U964, Université de Strasbourg, Illkirch Graffenstaden, France.
authors.forename: Olga
authors.initials: O
authors.lastname: Sumara
authors.affiliation: Anagenesis Biotechnologies, Parc d'innovation, Illkirch Graffenstaden, France.
authors.forename: Aurore
authors.initials: A
authors.lastname: Hick
authors.affiliation: Anagenesis Biotechnologies, Parc d'innovation, Illkirch Graffenstaden, France.
authors.forename: Fanny
authors.initials: F
authors.lastname: Bousson
authors.affiliation: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS (UMR 7104), Inserm U964, Université de Strasbourg, Illkirch Graffenstaden, France.
authors.forename: Yasmine
authors.initials: Y
authors.lastname: Zidouni
authors.affiliation: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS (UMR 7104), Inserm U964, Université de Strasbourg, Illkirch Graffenstaden, France.
authors.forename: Caroline
authors.initials: C
authors.lastname: Mursch
authors.affiliation: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS (UMR 7104), Inserm U964, Université de Strasbourg, Illkirch Graffenstaden, France.
authors.forename: Philippe
authors.initials: P
authors.lastname: Moncuquet
authors.affiliation: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS (UMR 7104), Inserm U964, Université de Strasbourg, Illkirch Graffenstaden, France.
authors.forename: Olivier
authors.initials: O
authors.lastname: Tassy
authors.affiliation: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS (UMR 7104), Inserm U964, Université de Strasbourg, Illkirch Graffenstaden, France.
authors.forename: Stéphane
authors.initials: S
authors.lastname: Vincent
authors.affiliation: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS (UMR 7104), Inserm U964, Université de Strasbourg, Illkirch Graffenstaden, France.
authors.forename: Ayako
authors.initials: A
authors.lastname: Miyanari
authors.affiliation: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS (UMR 7104), Inserm U964, Université de Strasbourg, Illkirch Graffenstaden, France.
authors.forename: Agata
authors.initials: A
authors.lastname: Bera
authors.affiliation: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS (UMR 7104), Inserm U964, Université de Strasbourg, Illkirch Graffenstaden, France.
authors.forename: Jean-Marie
authors.initials: JM
authors.lastname: Garnier
authors.affiliation: Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts, USA.|Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.|Harvard Stem Cell Institute, Boston, Massachusetts, USA.
authors.forename: Getzabel
authors.initials: G
authors.lastname: Guevara
authors.affiliation: Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts, USA.|Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.|Harvard Stem Cell Institute, Boston, Massachusetts, USA.
authors.forename: Marie
authors.initials: M
authors.lastname: Hestin
authors.affiliation: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS (UMR 7104), Inserm U964, Université de Strasbourg, Illkirch Graffenstaden, France.
authors.forename: Leif
authors.initials: L
authors.lastname: Kennedy
authors.affiliation: UPMC Paris 06, UMRS 787, INSERM, Avenir team, Pitié-Salpêtrière, Paris, France.|Institut de Myologie, Paris, France.
authors.forename: Shinichiro
authors.initials: S
authors.lastname: Hayashi
authors.affiliation: UPMC Paris 06, UMRS 787, INSERM, Avenir team, Pitié-Salpêtrière, Paris, France.|Institut de Myologie, Paris, France.
authors.forename: Bernadette
authors.initials: B
authors.lastname: Drayton
authors.affiliation: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS (UMR 7104), Inserm U964, Université de Strasbourg, Illkirch Graffenstaden, France.
authors.forename: Thomas
authors.initials: T
authors.lastname: Cherrier
authors.affiliation: Institut Pasteur, CNRS URA 2578, Paris, France.
authors.forename: Barbara
authors.initials: B
authors.lastname: Gayraud-Morel
authors.affiliation: Division of Genetics and Genomics Boston Children's Hospital, Boston, Massachusetts, USA.
authors.forename: Emanuela
authors.identifier: http://orcid.org/0000-0002-9915-3677
authors.initials: E
authors.lastname: Gussoni
authors.affiliation: UPMC Paris 06, UMRS 787, INSERM, Avenir team, Pitié-Salpêtrière, Paris, France.|Institut de Myologie, Paris, France.
authors.forename: Frédéric
authors.initials: F
authors.lastname: Relaix
authors.affiliation: Institut Pasteur, CNRS URA 2578, Paris, France.
authors.forename: Shahragim
authors.initials: S
authors.lastname: Tajbakhsh
authors.affiliation: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS (UMR 7104), Inserm U964, Université de Strasbourg, Illkirch Graffenstaden, France.|Stowers Institute for Medical Research, Kansas City, Missouri, USA.|Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts, USA.|Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.|Harvard Stem Cell Institute, Boston, Massachusetts, USA.|Howard Hughes Medical Institute, Kansas City, Missouri, USA.
authors.forename: Olivier
authors.initials: O
authors.lastname: Pourquié
mesh_terms: D000818:Animals; D002454:Cell Differentiation; D002478:Cells, Cultured; D004195:Disease Models, Animal; D051379:Mice; D008822:Mice, Transgenic; D018485:Muscle Fibers, Skeletal / Q000473:pathology*; D020388:Muscular Dystrophy, Duchenne / Q000473:pathology*; D039904:Pluripotent Stem Cells / Q000473:pathology*