Mammalian homolog of Drosophila retinal degeneration B rescues the mutant fly phenotype

Jinghua T. Chang, Scott Milligan, Yuanyuan Li, Christian E. Chew, Janey Wiggs, Neal G. Copeland, Nancy A. Jenkins, Peter A Campochiaro, David R. Hyde, Donald J Zack

Research output: Contribution to journalArticle

Abstract

Mutations in the Drosophila rdgB gene, which encodes a transmembrane phosphatidylinositol transfer protein (PITP), cause a light-enhanced retinal degeneration. Cloning of mammalian rdgB orthologs (mrdgB) reveal predicted proteins that are 39% identical to rdgB, with highest homology in the N- terminal PITP domain (62%) and in a region near the C terminus (65%). The human mrdgB gene spans ~12 kb and maps to 11q13.1, a locus where several retinal diseases have also been mapped. Murine mrdgB maps to a syntenic region on the proximal region of chromosome 19. MrdgB is specifically expressed in the retina and brain. In the retina, MrdgB protein is localized photoreceptor inner segments and the outer and inner plexiform layers. Expression of murine mrdgB in mutant flies fully rescues both the rdgB- dependent retinal degeneration and abnormal electroretinogram. These results suggest the existence of similarities between the invertebrate and mammalian retina that were not previously appreciated and also identify mrdgB as a candidate gene for retinal diseases that map to 11q13.1.

Original languageEnglish (US)
Pages (from-to)5881-5890
Number of pages10
JournalJournal of Neuroscience
Volume17
Issue number15
Publication statusPublished - Aug 1 1997

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Keywords

  • Phosphatidylinositol transfer protein
  • Photoreceptors
  • Phototransduction
  • Retina
  • Retinal degeneration
  • Retinal degeneration B

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Chang, J. T., Milligan, S., Li, Y., Chew, C. E., Wiggs, J., Copeland, N. G., ... Zack, D. J. (1997). Mammalian homolog of Drosophila retinal degeneration B rescues the mutant fly phenotype. Journal of Neuroscience, 17(15), 5881-5890.