Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12

Nat Genet. 1995 Nov;11(3):257-65. doi: 10.1038/ng1195-257.

Abstract

beta-Sarcoglycan, a 43 kDa dystrophin-associated glycoprotein, is an integral component of the dystrophin-glycoprotein complex. We have cloned human beta-sarcoglycan cDNA and mapped the beta-sarcoglycan gene to chromosome 4q12. Pericentromeric markers and an intragenic polymorphic CA repeat cosegregated perfectly with autosomal recessive limb-girdle muscular dystrophy in several Amish families. A Thr-to-Arg missense mutation was identified within the beta-sarcoglycan gene that leads to a dramatically reduced expression of beta-sarcoglycan in the sarcolemma and a concomitant loss of adhalin and 35 DAG, which may represent a disruption of a functional subcomplex within the dystrophin-glycoprotein complex. Thus, the beta-sarcoglycan gene is the fifth locus identified (LGMD2E) that is involved in autosomal recessive limb-girdle muscular dystrophy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Chromosome Mapping
  • Chromosomes, Human, Pair 4*
  • Cloning, Molecular
  • Cytoskeletal Proteins / analysis
  • Cytoskeletal Proteins / chemistry*
  • Cytoskeletal Proteins / deficiency
  • Cytoskeletal Proteins / genetics*
  • DNA, Complementary
  • Dystroglycans
  • Ethnic Groups / genetics
  • Humans
  • Indiana
  • Membrane Glycoproteins / analysis
  • Membrane Glycoproteins / chemistry*
  • Membrane Glycoproteins / deficiency
  • Membrane Glycoproteins / genetics*
  • Molecular Sequence Data
  • Muscular Dystrophies / genetics*
  • Mutation
  • Sarcoglycans
  • Sarcolemma / chemistry
  • Tissue Distribution

Substances

  • Cytoskeletal Proteins
  • DAG1 protein, human
  • DNA, Complementary
  • Membrane Glycoproteins
  • Sarcoglycans
  • Dystroglycans

Associated data

  • GENBANK/U29586