title: Spontaneous muscular dystrophy caused by a retrotransposal insertion in the mouse laminin alpha2 chain gene.
abstract: We identified a novel spontaneous mouse model of human congenital muscular dystrophy with laminin alpha2 chain deficiency, named dy(Pas)/dy(Pas). Homozygous animals rapidly developed a progressive muscular dystrophy leading to premature death. Immunohistological and biochemical analyses demonstrated the absence of laminin alpha2 chain expression in skeletal muscle. Analysis of the laminin alpha2 chain cDNA showed the insertion of the long terminal repeat of an intracisternal A-particle gene. In addition, a 6.1 kb insertion composed of retrotransposon elements was identified in the Lama2 sequence. The dy(Pas)/dy(Pas) mouse is thus the first spontaneous mutant with a complete laminin alpha2 chain deficiency in which the mutation has been identified.
authors.affiliation: INSERM U523, Institut de Myologie, IFR 'Coeur Muscle et Vaisseaux' no 14, Groupe Hospitalier Pitié-Salpêtrière, 47 Boulevard de l'hôpital, 75651, Paris Cedex 13, France.
authors.forename: Sylvie
authors.initials: S
authors.lastname: Besse
authors.forename: Valérie
authors.initials: V
authors.lastname: Allamand
authors.forename: Jean-Thomas
authors.initials: JT
authors.lastname: Vilquin
authors.forename: Zhenlin
authors.initials: Z
authors.lastname: Li
authors.forename: Christophe
authors.initials: C
authors.lastname: Poirier
authors.forename: Nicolas
authors.initials: N
authors.lastname: Vignier
authors.forename: Hisae
authors.initials: H
authors.lastname: Hori
authors.forename: Jean-Louis
authors.initials: JL
authors.lastname: Guénet
authors.forename: Pascale
authors.initials: P
authors.lastname: Guicheney
mesh_terms: D000818:Animals; D001483:Base Sequence; D015153:Blotting, Western; D004251:DNA Transposable Elements / Q000235:genetics; D018076:DNA, Complementary / Q000032:analysis; D004195:Disease Models, Animal; D005455:Fluorescent Antibody Technique / Q000379:methods; D006720:Homozygote; D006801:Humans; D007797:Laminin / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism; D051379:Mice; D008817:Mice, Mutant Strains; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000473:pathology; D009136:Muscular Dystrophies / Q000151:congenital / Q000235:genetics* / Q000378:metabolism; D009137:Muscular Dystrophy, Animal / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D010641:Phenotype; D018626:Retroelements / Q000235:genetics* / Q000502:physiology; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D017422:Sequence Analysis, DNA / Q000379:methods
chemical_list: D004251:DNA Transposable Elements; D018076:DNA, Complementary; D007797:Laminin; D018626:Retroelements; C102645:laminin alpha 2