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Apoptosis: final common pathway of photoreceptor death in rd, rds, and rhodopsin mutant mice.

Publication ,  Journal Article
Chang, GQ; Hao, Y; Wong, F
Published in: Neuron
October 1993

Mutations in the retinal degeneration, retinal degeneration slow(/peripherin) and rhodopsin genes cause photoreceptor degeneration in humans and mice. Although the phenotypes arising from these mutations are different, suggesting different mechanisms of pathogenesis, we present evidence that apoptosis may be the final common pathway of the disease process linking genotype to phenotype. We observed internucleosomal cleavage of retinal DNA by gel electrophoresis and fragmented DNA at the single cell level by labeling the nicked DNA ends with biotinylated poly(dU). In retinal degeneration mice, DNA fragmentation occurred during the period of photoreceptor degeneration. In retinal degeneration slow mice and in transgenic mice expressing a mutant (Pro347Ser) rhodopsin gene, DNA fragmentation occurred after normal histogenetic cell death (also apoptosis) had ceased. Since DNA fragmentation by internucleosomal cleavage is a cardinal feature of apoptosis, our data suggest that all three of these genetic mutations lead to apoptosis.

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Published In

Neuron

DOI

ISSN

0896-6273

Publication Date

October 1993

Volume

11

Issue

4

Start / End Page

595 / 605

Location

United States

Related Subject Headings

  • Rhodopsin
  • Retinal Degeneration
  • Retina
  • Photoreceptor Cells
  • Neurology & Neurosurgery
  • Mutagenesis, Site-Directed
  • Microscopy, Electron
  • Mice, Mutant Strains
  • Mice, Inbred C57BL
  • Mice
 

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Chang, G. Q., Hao, Y., & Wong, F. (1993). Apoptosis: final common pathway of photoreceptor death in rd, rds, and rhodopsin mutant mice. Neuron, 11(4), 595–605. https://doi.org/10.1016/0896-6273(93)90072-y
Chang, G. Q., Y. Hao, and F. Wong. “Apoptosis: final common pathway of photoreceptor death in rd, rds, and rhodopsin mutant mice.Neuron 11, no. 4 (October 1993): 595–605. https://doi.org/10.1016/0896-6273(93)90072-y.
Chang, G. Q., et al. “Apoptosis: final common pathway of photoreceptor death in rd, rds, and rhodopsin mutant mice.Neuron, vol. 11, no. 4, Oct. 1993, pp. 595–605. Pubmed, doi:10.1016/0896-6273(93)90072-y.
Journal cover image

Published In

Neuron

DOI

ISSN

0896-6273

Publication Date

October 1993

Volume

11

Issue

4

Start / End Page

595 / 605

Location

United States

Related Subject Headings

  • Rhodopsin
  • Retinal Degeneration
  • Retina
  • Photoreceptor Cells
  • Neurology & Neurosurgery
  • Mutagenesis, Site-Directed
  • Microscopy, Electron
  • Mice, Mutant Strains
  • Mice, Inbred C57BL
  • Mice