Abstract
To elucidate the normal and pathophysiological roles of genes involved in the aetiology of muscular dystrophies, we studied the expression of dystrophin, four sarcoglycans, beta-dystroglycan and merosin during early human development. These proteins are expressed mainly in skeletal muscles while dystrophin, beta-dystroglycan, delta-sarcoglycan and merosin are in cardiac and smooth muscles. Dystrophin, beta-, delta-sarcoglycan and beta-dystroglycan are first expressed in the myotome at the 4th week of human embryogenesis, followed by gamma-sarcoglycan and merosin at the 6th week of development; alpha-sarcoglycan appears only at the level of the muscular fibre at the end of the embryonic period.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Cytoskeletal Proteins / biosynthesis
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Cytoskeletal Proteins / genetics
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Dystroglycans
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Dystrophin / biosynthesis
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Dystrophin / genetics
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Embryonic and Fetal Development
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Gene Expression Regulation, Developmental*
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Gestational Age
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Heart / embryology
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Humans
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Laminin / biosynthesis
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Laminin / genetics
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Membrane Glycoproteins / biosynthesis
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Membrane Glycoproteins / genetics
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Muscle Proteins / biosynthesis*
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Muscle Proteins / genetics
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Muscle, Skeletal / embryology
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Muscle, Skeletal / metabolism
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Muscular Dystrophies / genetics*
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Myocardium / metabolism
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Protein Structure, Tertiary
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Sarcoglycans
Substances
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Cytoskeletal Proteins
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DAG1 protein, human
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Dystrophin
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Laminin
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Membrane Glycoproteins
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Muscle Proteins
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Sarcoglycans
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Dystroglycans