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 (
pcd
2J
and
pcd
3J
).
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.