Article: article from journal or magazin.
Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12.
Publication types: Journal Article ; Research Support, Non-U.S. Gov't - Publication Status: ppublish
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.
Amino Acid Sequence, Base Sequence, Chromosome Mapping, Chromosomes, Human, Pair 4, Cloning, Molecular, Cytoskeletal Proteins/analysis, Cytoskeletal Proteins/chemistry, DNA, Complementary, Dystroglycans, Ethnic Groups/genetics, Humans, Indiana, Membrane Glycoproteins/analysis, Membrane Glycoproteins/chemistry, Molecular Sequence Data, Muscular Dystrophies/genetics, Mutation, Sarcoglycans, Sarcolemma/chemistry, Tissue Distribution
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