title: Murine muscular dystrophy caused by a mutation in the laminin alpha 2 (Lama2) gene.
abstract: The classic murine muscular dystrophy strain, dy, was first described almost 40 years ago. We have identified the molecular basis of an allele of dy, called dy2J, by detecting a mutation in the laminin alpha 2 chain gene--the first identified mutation in laminin-2. The G to A mutation in a splice site consensus sequence causes abnormal splicing and expression of multiple mRNAs. One mRNA is translated into an alpha 2 polypeptide with a deletion in domain VI. The truncated protein apparently lacks important qualities of the wild type protein and is unable to provide sufficient muscle stability.
authors.affiliation: La Jolla Cancer Research Foundation, California 92037.
authors.forename: H
authors.initials: H
authors.lastname: Xu
authors.forename: X R
authors.initials: XR
authors.lastname: Wu
authors.forename: U M
authors.initials: UM
authors.lastname: Wewer
authors.forename: E
authors.initials: E
authors.lastname: Engvall
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D001485:Basement Membrane / Q000378:metabolism / Q000473:pathology; D002448:Cell Adhesion; D018076:DNA, Complementary / Q000235:genetics; D005260:Female; D006031:Glycosylation; D007797:Laminin / Q000172:deficiency / Q000235:genetics*; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D008817:Mice, Mutant Strains / Q000235:genetics*; D008969:Molecular Sequence Data; D009124:Muscle Proteins / Q000235:genetics*; D009132:Muscles / Q000473:pathology; D009137:Muscular Dystrophy, Animal / Q000235:genetics* / Q000473:pathology; D009419:Nerve Tissue Proteins / Q000235:genetics*; D017354:Point Mutation; D011499:Protein Processing, Post-Translational; D012326:RNA Splicing; D012333:RNA, Messenger / Q000096:biosynthesis; D017384:Sequence Deletion
chemical_list: D018076:DNA, Complementary; D007797:Laminin; D009124:Muscle Proteins; D009419:Nerve Tissue Proteins; D012333:RNA, Messenger