The molecular genetics of human facioscapulohumeral muscular dystrophy and the myodystrophy mouse model.
Facioscapulohumeral dystrophy is an autosomal dominant muscular dystrophy, the gene for which is localized to 4q35. It appears to be caused by deletion of tandem repeats that do not contain an expressed sequence. One current hypothesis is that the deletion affects expression of a centromeric gene (not yet identified) through a position effect. The mouse mutant, myodystrophy (myd), is a candidate model for facioscapulohumeral dystrophy. Myd has a progressive muscular dystrophy and maps to a segment of mouse chromosome 8 that is syntenic with human 4q31-4q35.
Department of Pediatrics, University of Iowa, Iowa City 52242, USA.
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Mathews
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Mills
D000818:Animals; D002648:Child; D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10; D002894:Chromosomes, Human, Pair 4; D002898:Chromosomes, Human, Pair 8; D004195:Disease Models, Animal; D005786:Gene Expression Regulation / Q000235:genetics*; D006801:Humans; D051379:Mice; D009136:Muscular Dystrophies / Q000235:genetics*; D009137:Muscular Dystrophy, Animal / Q000235:genetics*; D010641:Phenotype