Mutations in the Dystrophin-Associated Protein γ-Sarcoglycan in Chromosome 13 Muscular Dystrophy

Severe childhood autosomal recessive muscular dystrophy (SCARMD) is a progressive muscle-wasting disorder common in North Africa that segregates with microsatellite markers at chromosome 13q12. Here, it is shown that a mutation in the gene encoding the 35-kilodalton dystrophin-associated glycoprotei...

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Bibliographic Details
Published in:Science (American Association for the Advancement of Science) 1995-11, Vol.270 (5237), p.819-822
Main Authors: Noguchi, Satoru, McNally, Elizabeth M., Ben Othmane, Kamel, Hagiwara, Yasuko, Mizuno, Yuji, Yoshida, Mikiharu, Yamamoto, Hideko, Bönnemann, Carsten G., Gussoni, Emanuela, Denton, Peter H., Kyriakides, Theodoros, Middleton, Lefkos, Hentati, Faycal, Ben Hamida, Mongi, Nanoka, Ikuya, Vance, Jeffery M., Kunkel, Louis M., Ozawa, Eijiro
Format: Article
Language:English
Subjects:
Amino Acid Sequence
Amino acids
Animals
Base Sequence
Biological and medical sciences
Biopsies
Chromosome Mapping
Chromosomes
Chromosomes, Human, Pair 13
Complementary DNA
Cytoskeletal Proteins
Diseases of striated muscles. Neuromuscular diseases
DNA, Complementary - genetics
Dystrophin
Dystrophin - chemistry
Dystrophin - genetics
Dystrophin - metabolism
Family (Sociological Unit)
Five prime untranslated regions
Genes
Genetic aspects
Genetic Disorders
Genetic mutation
Humans
Linkage Disequilibrium
Medical sciences
Membrane Glycoproteins - chemistry
Membrane Glycoproteins - genetics
Membrane Glycoproteins - metabolism
Molecular Sequence Data
Molecular Weight
Muscle, Skeletal - chemistry
Muscle, Skeletal - metabolism
Muscular dystrophies
Muscular Dystrophies - genetics
Muscular dystrophy
Mutation
Neurology
Phenotype
Proteins
Rabbits
Sarcoglycans
Sequence Deletion
Three prime untranslated regions
Untranslated regions
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Description
Summary:Severe childhood autosomal recessive muscular dystrophy (SCARMD) is a progressive muscle-wasting disorder common in North Africa that segregates with microsatellite markers at chromosome 13q12. Here, it is shown that a mutation in the gene encoding the 35-kilodalton dystrophin-associated glycoprotein, γ-sarcoglycan, is likely to be the primary genetic defect in this disorder. The human γ-sarcoglycan gene was mapped to chromosome 13q12, and deletions that alter its reading frame were identified in three families and one of four sporadic cases of SCARMD. These mutations not only affect γ-sarcoglycan but also disrupt the integrity of the entire sarcoglycan complex.
ISSN:0036-8075
1095-9203
DOI:10.1126/science.270.5237.819