期刊
VISION RESEARCH
卷 48, 期 19, 页码 1999-2005出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.visres.2008.05.026
关键词
retinal photoreceptor degeneration; zinc-dependent carboxypeptidase; genetic rescue; Purkinje cell degeneration
资金
- NIH [EY14997, EY78106, EY01730]
- MRDDRC Center Grant [P30 HD02274]
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 pcd(5J) 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. (c) 2008 Elsevier Ltd. All rights reserved.
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