Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
4034935 | Vision Research | 2005 | 7 Pages |
Abstract
The Purkinje cell degeneration (pcd) mouse undergoes retinal photoreceptor degeneration and Purkinje cell loss. Nna1 is postulated to be the causal gene for pcd. We show that a BAC containing the Nna1 gene rescues retinal photoreceptor loss and Purkinje cell degeneration, confirming that Nna1 loss-of-function is responsible for these phenotypes. Mutation of the zinc-binding domain within the transgene destroyed its ability to rescue neuronal loss in pcd5J homozygous mice. In conclusion, Nna1 is required for survival of retinal photoreceptors and other neuron populations that degenerate in pcd mice. A functional zinc-binding domain is crucial for Nna1 to support neuron survival.
Related Topics
Life Sciences
Neuroscience
Sensory Systems
Authors
Lisa Chakrabarti, Jeremiah Eng, Refugio A. Martinez, Stephen Jackson, Jing Huang, Daniel E. Possin, Bryce L. Sopher, Albert R. La Spada,