PT  - JOURNAL ARTICLE
AU  - Jinghua T. Chang
AU  - Scott Milligan
AU  - Yuanyuan Li
AU  - Christina E. Chew
AU  - Janey Wiggs
AU  - Neal G. Copeland
AU  - Nancy A. Jenkins
AU  - Peter A. Campochiaro
AU  - David R. Hyde
AU  - Donald J. Zack
TI  - Mammalian Homolog of <em>Drosophila retinal degeneration B</em> Rescues the Mutant Fly Phenotype
AID  - 10.1523/JNEUROSCI.17-15-05881.1997
DP  - 1997 Aug 01
TA  - The Journal of Neuroscience
PG  - 5881--5890
VI  - 17
IP  - 15
4099  - http://www.jneurosci.org/content/17/15/5881.short
4100  - http://www.jneurosci.org/content/17/15/5881.full
SO  - J. Neurosci.1997 Aug 01; 17
AB  - Mutations in the Drosophila rdgB gene, which encodes a transmembrane phosphatidylinositol transfer protein (PITP), cause a light-enhanced retinal degeneration. Cloning of mammalianrdgB 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 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 identifymrdgB as a candidate gene for retinal diseases that map to 11q13.1.