Murine muscular dystrophy caused by a mutation in the laminin alpha 2 (Lama2) gene

Nat Genet. 1994 Nov;8(3):297-302. doi: 10.1038/ng1194-297.

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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Basement Membrane / metabolism
  • Basement Membrane / pathology
  • Cell Adhesion
  • DNA, Complementary / genetics
  • Female
  • Glycosylation
  • Laminin / deficiency
  • Laminin / genetics*
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mice, Mutant Strains / genetics*
  • Molecular Sequence Data
  • Muscle Proteins / genetics*
  • Muscles / pathology
  • Muscular Dystrophy, Animal / genetics*
  • Muscular Dystrophy, Animal / pathology
  • Nerve Tissue Proteins / genetics*
  • Point Mutation*
  • Protein Processing, Post-Translational
  • RNA Splicing
  • RNA, Messenger / biosynthesis
  • Sequence Deletion

Substances

  • DNA, Complementary
  • Laminin
  • Muscle Proteins
  • Nerve Tissue Proteins
  • RNA, Messenger

Associated data

  • GENBANK/S75315