Abstract
Despite the discovery of the deletion on the long arm of the chromosome 4 specific for facioscapulohumeral muscular dystrophy (FSHD), the identity of the gene responsible for the disease still remains a mystery. In this review we focus on two genes, DUX4 and DUX4c, encoded by the D4Z4 repeats present in the 4q35 locus, which is affected in the disease.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Animals
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Chromosomes, Human, Pair 4 / genetics*
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DNA, Intergenic / genetics*
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Gene Deletion
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Genetic Predisposition to Disease / genetics*
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Homeodomain Proteins / genetics
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Humans
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Muscular Dystrophy, Facioscapulohumeral / genetics*
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Muscular Dystrophy, Facioscapulohumeral / metabolism
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Muscular Dystrophy, Facioscapulohumeral / physiopathology
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Mutation / genetics*
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Protein Isoforms / genetics
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Pseudogenes / genetics*
Substances
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DNA, Intergenic
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DUX4L1 protein, human
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Homeodomain Proteins
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Protein Isoforms