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Suppression of revertant fibers in mdx mice by expression of a functional dystrophin.

Publication ,  Journal Article
Crawford, GE; Lu, QL; Partridge, TA; Chamberlain, JS
Published in: Hum Mol Genet
November 15, 2001

Duchenne muscular dystrophy (DMD) is characterized by progressive muscle degeneration that results from the absence of dystrophin. Despite null mutations in the dystrophin gene, many DMD patients display a low percentage of dystrophin-positive fibers. These "revertant fibers" are also present in the dystrophin-deficient mdx mouse and are believed to result from alternative splicing or second mutation events that bypass the mutation and restore an open reading frame. However, it is unclear what role dystrophin and the dystrophic pathology might play in revertant fiber formation and accumulation. We have analyzed the role of dystrophin expression and the dystrophic pathology in this process by monitoring revertant fibers in transgenic mdx mice that express truncated dystrophins. We found that newborn transgenic mice displayed approximately the same number of revertant fibers as newborn mdx mice, indicating that expression of a functional dystrophin does not suppress the initiation of revertant fiber formation. Surprisingly, when the transgene encoded a functional dystrophin, revertant fibers were not detected in adult or old mdx mice. In contrast, adult transgenic mice expressing a non-functional dystrophin accumulated increasing numbers of revertant fibers, similar to mdx mice, suggesting that positive selection is required for the persistence of revertant fibers. Finally, we provide evidence that the loss of revertant dystrophin in transgenic mdx muscle fibers overexpressing a functional dystrophin results from displacement of the revertant protein by the transgene-encoded dystrophin.

Duke Scholars

Published In

Hum Mol Genet

DOI

ISSN

0964-6906

Publication Date

November 15, 2001

Volume

10

Issue

24

Start / End Page

2745 / 2750

Location

England

Related Subject Headings

  • Reverse Transcriptase Polymerase Chain Reaction
  • RNA, Messenger
  • Muscular Dystrophy, Duchenne
  • Muscle Fibers, Skeletal
  • Mice, Transgenic
  • Mice, Inbred mdx
  • Mice, Inbred C57BL
  • Mice
  • Humans
  • Genetics & Heredity
 

Citation

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Crawford, G. E., Lu, Q. L., Partridge, T. A., & Chamberlain, J. S. (2001). Suppression of revertant fibers in mdx mice by expression of a functional dystrophin. Hum Mol Genet, 10(24), 2745–2750. https://doi.org/10.1093/hmg/10.24.2745
Crawford, G. E., Q. L. Lu, T. A. Partridge, and J. S. Chamberlain. “Suppression of revertant fibers in mdx mice by expression of a functional dystrophin.Hum Mol Genet 10, no. 24 (November 15, 2001): 2745–50. https://doi.org/10.1093/hmg/10.24.2745.
Crawford GE, Lu QL, Partridge TA, Chamberlain JS. Suppression of revertant fibers in mdx mice by expression of a functional dystrophin. Hum Mol Genet. 2001 Nov 15;10(24):2745–50.
Crawford, G. E., et al. “Suppression of revertant fibers in mdx mice by expression of a functional dystrophin.Hum Mol Genet, vol. 10, no. 24, Nov. 2001, pp. 2745–50. Pubmed, doi:10.1093/hmg/10.24.2745.
Crawford GE, Lu QL, Partridge TA, Chamberlain JS. Suppression of revertant fibers in mdx mice by expression of a functional dystrophin. Hum Mol Genet. 2001 Nov 15;10(24):2745–2750.
Journal cover image

Published In

Hum Mol Genet

DOI

ISSN

0964-6906

Publication Date

November 15, 2001

Volume

10

Issue

24

Start / End Page

2745 / 2750

Location

England

Related Subject Headings

  • Reverse Transcriptase Polymerase Chain Reaction
  • RNA, Messenger
  • Muscular Dystrophy, Duchenne
  • Muscle Fibers, Skeletal
  • Mice, Transgenic
  • Mice, Inbred mdx
  • Mice, Inbred C57BL
  • Mice
  • Humans
  • Genetics & Heredity