Purkinje cell degeneration (pcd) phenotypes caused by mutations in the axotomy-induced gene, Nna1.
Document Type
Article
Publication Date
2002
Keywords
Animal, Axotomy, Blotting-Northern, Brain, Chromosome-Mapping, Crosses-Genetic, Female, GTP-Binding-Proteins, Gene-Expression, Genes, In-Situ-Hybridization, Male, Mice, Mice-Neurologic-Mutants, Mutation, Nerve-Degeneration, Nerve-Regeneration, Neurons, Phenotype, Purkinje-Cells, RNA-Messenger, Retina, Spermatogenesis, SUPPORT-NON-U-S-GOVT, SUPPORT-U-S-GOVT-P-H-S, Testis
First Page
1904
Last Page
1906
JAX Source
Science 2002 Mar 8; 295(5561):1904-6.
Grant
RR01183/RR/NCRR
Abstract
The classical recessive mouse mutant, Purkinje cell degeneration (pcd), exhibits adult-onset degeneration of cerebellar Purkinje neurons, retinal photoreceptors, olfactory bulb mitral neurons, and selected thalamic neurons, and has defective spermatogenesis. Here we identify Nna1 as the gene mutated in the original pcd and two additional pcd alleles (pcd2J and pcd3J). Nna1 encodes a putative nuclear protein containing a zinc carboxypeptidase domain initially identified by its induction in spinal motor neurons during axonal regeneration. The present study suggests an unexpected molecular link between neuronal degeneration and regeneration, and its results have potential implications for neurodegenerative diseases and male infertility.
Recommended Citation
Fernandez GA,
La SA,
Treadaway J,
Higdon JC,
Harris BS,
Sidman RL,
Morgan JI,
Zuo J.
Purkinje cell degeneration (pcd) phenotypes caused by mutations in the axotomy-induced gene, Nna1. Science 2002 Mar 8; 295(5561):1904-6.