The structural and functional diversity of dystrophin.
Nat Genet
; 3(4): 283-91, 1993 Apr.
Article
en En
| MEDLINE
| ID: mdl-7981747
ABSTRACT
Duchenne and Becker muscular dystrophies are caused by defects of the dystrophin gene. Expression of this large X-linked gene is under elaborate transcriptional and splicing control. At least five independent promoters specify the transcription of their respective alternative first exons in a cell-specific and developmentally controlled manner. Three promoters express full-length dystrophin, while two promoters near the C terminus express the last domains in a mutually exclusive manner. Six exons of the C terminus are alternatively spliced, giving rise to several alternative forms. Genetic, biochemical and anatomical studies of dystrophin suggest that a number of distinct functions are subserved by its great structural diversity. Extensive studies of dystrophin may lead to an understanding of the cause and perhaps a rational treatment for muscular dystrophy.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Variación Genética
/
Cromosoma X
/
Distrofina
/
Distrofias Musculares
Límite:
Animals
Idioma:
En
Revista:
Nat Genet
Asunto de la revista:
GENETICA MEDICA
Año:
1993
Tipo del documento:
Article