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Mammalian Homolog of Drosophila Retinal Degeneration B Rescues the Mutant Fly Phenotype

  1. Author:
    Chang, J. H. T.
    Milligan, S.
    Li, Y. Y.
    Chew, C. E.
    Wiggs, J.
    Copeland, N. G.
    Jenkins, N. A.
    Campochiaro, P. A.
    Hyde, D. R.
    Zack, D. J.

  2. Author Address

    Zack DJ JOHNS HOPKINS UNIV SCH MED WILMER EYE INST 600 N WOLFE ST 809 MAUMENEE BALTIMORE, MD 21287 USA JOHNS HOPKINS UNIV SCH MED WILMER EYE INST BALTIMORE, MD 21287 USA JOHNS HOPKINS UNIV SCH MED DEPT NEUROSCI BALTIMORE, MD 21287 USA JOHNS HOPKINS UNIV SCH MED DEPT MOL BIOL & GENET BALTIMORE, MD 21287 USA UNIV NOTRE DAME DEPT BIOL SCI NOTRE DAME, IN 46556 USA TUFTS UNIV SCH MED NEW ENGLAND EYE CTR BOSTON, MA 02111 USA NCI FREDERICK CANC RES & DEV CTR ABL MAMMALIAN GENET LAB FREDERICK, MD 21702 USA
    1. Year: 1997
  2. Journal: Journal of Neuroscience
    1. 17
    2. 15
    3. Pages: 5881-5890
  4. Type of Article: Article
  1. 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 similar to 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 to 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. [References: 56]

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