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Critical Reviews™ in Eukaryotic Gene Expression
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ISSN Imprimir: 1045-4403
ISSN On-line: 2162-6502

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Critical Reviews™ in Eukaryotic Gene Expression

DOI: 10.1615/CritRevEukarGeneExpr.v19.i2.10
pages 89-108

Expression of Members of the Dystrophin, Dystrobrevin, and Dystrotelin Superfamily

Sabrina V. Bohm
King's College London, Department of Medical & Molecular Genetics, London, UK
Roland G. Roberts
King's College London, Department of Medical & Molecular Genetics, London, UK

RESUMO

The dystrophin/dystrobrevin/dystrotelin superfamily is marked by a common constellation of domains whose juxtaposition is tightly constrained in all three subfamilies. These domains comprise a cluster of four closely packed EF hands, a ZZ domain, and two coiled-coil regions. In addition, the dystrophin and dystrobrevin branches share one or two binding sites for members of the syntrophin family of adaptor proteins, and the dystrophins and some dystrotelins share a WW domain. Much of the exon structure of the genes encoding these domains is also shared, confirming the monophyletic status of the superfamily. Almost all animals have at least one member of each branch, with multiple paralogous members of the dystrophin and dystrobrevin branches in the vertebrates. Thus, in humans, 6 genes, 19 promoters, and 10 alternatively spliced exons conspire to generate a staggering array of proteins, with at least one in almost every tissue of the body. This review aims to summarize what is known of this complexity of expression of members of the dystrophin/dystrobrevin/dystrotelin superfamily across the animal kingdom. The widespread expression in adult vertebrates, together with elaborate and dynamic patterns during development, paints a picture of a superfamily whose fundamental biological function is still poorly understood.


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