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Purkinje cell degeneration (pcd) Phenotypes Caused by Mutations in the Axotomy-Induced Gene, Nna1

Science  08 Mar 2002:
Vol. 295, Issue 5561, pp. 1904-1906
DOI: 10.1126/science.1068912

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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 additionalpcd alleles (pcd 2J andpcd 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.

  • * These authors contributed equally to this work.

  • To whom correspondence should be addressed. E-mail: jian.zuo{at}stjude.org

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