Characterization of delta-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy

J Biol Chem. 1996 Dec 13;271(50):32321-9. doi: 10.1074/jbc.271.50.32321.

Abstract

The sarcoglycan complex is known to be involved in limb-girdle muscular dystrophy (LGMD) and is composed of at least three proteins: alpha-, beta-, and gamma-sarcoglycan. delta-Sarcoglycan has now been identified as a second 35-kDa sarcolemmal transmembrane glycoprotein that shares high homology with gamma-sarcoglycan and is expressed mainly in skeletal and cardiac muscle. Biochemical analysis has demonstrated that gamma- and delta-sarcoglycan are separate entities within the sarcoglycan complex and that all four sarcoglycans exist in the complex on a stoichiometrically equal basis. Immunohistochemical analysis of skeletal muscle biopsies from patients with LGMD2C, LGMD2D, and LGMD2E demonstrated a reduction of the entire sarcoglycan complex in these muscular dystrophies. Furthermore, we have mapped the human delta-sarcoglycan gene to chromosome 5q33-q34 in a region overlapping the recently linked autosomal recessive LGMD2F locus.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Chromosome Mapping
  • Cytoskeletal Proteins / chemistry*
  • Cytoskeletal Proteins / genetics
  • DNA, Complementary / chemistry
  • Humans
  • Membrane Glycoproteins / chemistry*
  • Membrane Glycoproteins / genetics
  • Models, Molecular
  • Molecular Sequence Data
  • Muscular Dystrophies / genetics
  • Muscular Dystrophies / metabolism*
  • RNA, Messenger / metabolism
  • Sarcoglycans
  • Tissue Distribution

Substances

  • Cytoskeletal Proteins
  • DNA, Complementary
  • Membrane Glycoproteins
  • RNA, Messenger
  • Sarcoglycans

Associated data

  • GENBANK/U58331