Dystrophin is transcribed in brain from a distant upstream promoter.

DOI Web Site 被引用文献4件
  • F M Boyce
    Division of Genetics, Children's Hospital, Boston, MA 02115.
  • A H Beggs
    Division of Genetics, Children's Hospital, Boston, MA 02115.
  • C Feener
    Division of Genetics, Children's Hospital, Boston, MA 02115.
  • L M Kunkel
    Division of Genetics, Children's Hospital, Boston, MA 02115.

抄録

<jats:p>Dystrophin, the protein product of the Duchenne muscular dystrophy gene, is expressed in brain as well as muscle. The role of dystrophin in the brain is not clear, though one-third of Duchenne muscular dystrophy patients exhibit some degree of mental retardation. We have isolated the genomic region encoding the alternative 5' terminus of dystrophin used in the brain. Primer extension and polymerase chain reaction assays on RNA demonstrate that this region contains an alternative promoter for dystrophin used in the brain. Physical mapping of this region indicates that this brain promoter is located greater than 90 kilobases 5' to the promoter used in muscle and 400 kilobases from exon 2 to which it is spliced. The large physical distance between the promoters, taken together with their known tissue selectivities, suggests that in certain patients a deletion of either dystrophin promoter might give rise to reduced dystrophin expression selective to brain or muscle. We have identified one such individual with specific deletion of the dystrophin muscle promoter, giving rise to Becker muscular dystrophy, and we predict that specific loss of the brain promoter may be one cause of X chromosome-linked mental retardation.</jats:p>

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